Handbook of Children With Special Health Care Needs

Handbook of Children with Special
Health Care Needs
David Hollar
Editor
Handbook of Children
with Special Health Care
Needs
1C
Editor
David Hollar
University of North Carolina
Chapel Hill
NC, USA
ISBN 978-1-4614-2334-8 ISBN 978-1-4614-2335-5 (eBook)

DOI 10.1007/978-1-4614-2335-5
Springer New York Dordrecht Heidelberg London
Library of Congress Control Number: 2012940410
Springer Science+Business Media New York 2012
All rights reserved. This work may not be translated or copied in whole or in part without the
written permission of the publisher (Springer Science+Business Media, LLC, 233 Spring Street,
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they are not identified as such, is not to be taken as an expression of opinion as to whether or not
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Printed on acid-free paper
Springer is part of Springer Science+Business Media (www.springer.com)
For all of our and your children, everywhere, and per Antoine
de Saint-Exuperys Le Petit Prince dedication to Leon Werth,
for each of us and you, when we were (are) children.
Preface
Children with special health care needs (CSHCN), including children with
disabilities, represent approximately 20% of all children. They comprise a
considerable extent of human variation, with their principal general distinguishing characteristic being that they need additional educational, health,
medical, and assistive services so that they can live optimal lives. Whereas
some of their conditions are severe, drastically limiting their potential, they
are children, and we are committed to developing research and services that
will help them to have happy, successful lives and to become leaders in our
society.
In this book, 41 international experts on CSHCN have prepared chapters describing various aspects of disability policy, research, treatments, and
interventions. The purpose of this handbook is to provide the many researchers, policy developers, consumer advocates, and families of CSHCN with
resources to further their work. The topics are by no means exhaustive nor
cover every type of disability or special health care need. Furthermore, the
chapters are provided in no particular order of importance, although I have
arranged them in a general flow of thematic areas, starting with policy, progressing through various conditions and contextual approaches for interventions, and concluding with special topics and the important emphasis on the
medical home, the continuous, lifelong tracking of health and development
that is critical for positive health outcomes of CSHCN, even for all of us.
Donna Petersen gets us started with an overview of CSHCN and public
health policy in Chap.1. In Chap.2, Carol Page and Patricia Quattlebaum
describe severe communication disorders and their treatment, conditions
which affect many children but which may or may not attenuate with child
development.
Andrew Martin follows in Chap. 3 with a comprehensive discussion of
a major behavioral condition, Attention Deficit Hyperactivity Disorder
(ADHD), which is increasing worldwide. Martin interweaves this discussion with intervention applications that involve the rich educational research
literature on promoting childrens positive psychological self-worth. Sunil
Karande complements this chapter with a strong medical perspective on
ADHD diagnosis and treatment in Chap.4.
Ann I. Alriksson-Schmidt and Judy K. Thibadeau from CDC provide
Chap. 5 on mobility limitations in CSHCN. Chaps. 69 address sensory
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disabilities starting with Irma M. Munoz-Baell, Carlos Alvarez-Dardet,

M.Teresa Ruiz, and Emilio Ferreiro-Lago, who present deaf education from
a deaf culture advocacy perspective (Chap.6). Jugnoo Rahi and Lola Solebo
describe childhood eye disorders and visual impairment (Chap. 7), then
Diane Whitaker and Elana Scheiner present specific approaches to evaluating infants and school children for visual disabilities (Chap.8). Dental health
often is overlooked for CSHCN, so Nancy J. Murray and Mary Anderson
Hartley discuss oral health access issues for CSHCN in Chap.9.
Tuberculosis often is overlooked among major, deadly diseases despite
the facts that it kills more children than most other diseases combined and
that approximately 30% of humans have been exposed to the bacterium. In
Chap.10, Elisabetta Walters, Elizabeth Lutge, and Robert P. Gie provide a
sobering description of tuberculosis among children in southern Africa and
issues involved in testing, diagnosing, and long-term treatment of the disease.
In Chap. 11, Yann Mikaeloff discusses diagnosis and treatments for
CSHCN with multiple sclerosis. In Chap.12, Jacquelyn Bertrand and Elizabeth Parra Dang from CDC provide a thorough overview of diagnosis and
treatment issues for fetal alcohol spectrum disorders, which vary in extent but
impact affected children for their entire lives.
Chapters1315 cover newborn screening for genetic, metabolic, and birth
defect conditions. Bent Nrgaard Pedersen and David Michael Hougaard
begin with a comprehensive discussion of newborn-screening programs and
how laboratory tandem mass spectrometry and pediatrician follow-up visits
can rapidly diagnosis and treat genetic and metabolic disorders following the
heel stick blood test that is collected at birth for newborn infants in many
countries. David Hollar discusses many of the various types of genetic and
metabolic conditions in Chap.14, most importantly listing resources for these
conditions, including the very useful online Mendelian Inheritance in Man
(OMIM) website, initially developed by Dr. Viktor McKusick and currently
updated daily by Johns Hopkins University and the United States National
Library of Medicine National Center for Biotechnology Information. Hollar
continues in Chap. 15 with birth defects screened by the National Birth
Defects Prevention Network, and he provides an unusual fusion of psychological and biological development that serves as a basis for trying to understand the origins of many types of disabilities.
For studying CSHCN, Willi Horner-Johnson and Kathleen Newton
(Chap. 16) describe several major databases with information on CSHCN
that have been useful for studying public health and policy issues, with
many of these databases being publicly available in a deidentified format by
request. Jennifer L. Rowland covers an emerging important topic, secondary
conditions in youth with disabilities (Chap.17), secondary conditions being
generally defined as physical and/or psychological conditions that arise due
to the childs primary disability condition or due to others misperceptions or
environmental barriers to the primary disability.
In Chap.18, Jo Ann Ford, Judson Workman, Navid Masoudi, Mary Huber,
Theresa Mayer, and Karel Pancocha discuss risk factors faced by adolescents
with disabilities, most notably substance abuse, and they provide a unique
perspective on school-based prevention programming with their prevention
Preface
ix
Preface
through alternative learning styles (PALS) curriculum. I had the privilege of

working with this group and this curriculum during 20012003.
David Hollar and Arun Karpur describe proper approaches with examples for conducting research involving CSHCN, especially protecting study
participants rights and confidentiality, in Chap. 19. In Chap. 20, Chad A.
Rose, Stephen Allison, and Cynthia G. Simpson discuss the critical topic of
bullying, for which many CSHCN are victimized, and they evaluate various
approaches to reduce risks for bullying.
Finishing the handbook, Renee M. Turchi and Marie Y. Mann emphasize the medical home concept and continuity of care for CSHCN and their
families in order to have optimal health outcomes. Hollar concludes a brief
Chap.22 with a summary of major concepts from the chapters. We hope that
you will find the information in this handbook useful for advocating positive
health and life outcomes for CSHCN.
This handbook resulted from outstanding teamwork among an international group of coauthors, all experts on Children with Special Health Care
Needs (CSHCN) within the overlapping fields of public health, education,
and medicine. I thank each of them for sharing their expertise. I thank editors
Khristine Queja and Diana Alkema at Springer for originally suggesting the
idea for this handbook, editors Bill Tucker andIan Marvinney for facilitating early implementation of the project, and Kathryn Hiler and Shreya Bhattacharya for proofing and final formatting of the handbook. Many thanks go to
John Hattie, Dennis Moore, Sanjay Asrani, and numerous colleagues with the
Disability and Maternal and Child Health Divisions of the American Public
Health Association as well as Springers Maternal and Child Health Journal
for topic suggestions and recommendations of coauthors for the handbook. I
express special gratitude to my family, Brooke, Paige, Virginia, and Roselyn,
for their faith, patience, support, and interest in this project.
August, 2011
David Hollar
Contents
1 P
olicy: Its History, Intentions, and Consequences for Children
with Special Health Care Needs 1
Donna Petersen
2 S
evere Communication Disorders 23
Carol A. Page and Patricia D. Quattlebaum
3 A
ttention-Deficit/Hyperactivity Disorder (ADHD),
Perceived Competence, and Self-Worth: Evidence
and Implications for Students and Practitioners 47
Andrew J. Martin
4 Q
uality of Life in Children Diagnosed with Specific Learning
Disability or Attention-Deficit/Hyperactivity Disorder 73
Sunil Karande
5 C
hildren and Adolescents with Mobility Limitations 87
Ann I. Alriksson-Schmidt and Judy K. Thibadeau
6 R
ethinking Deaf Learners Education:
A Human Rights Issue 107
Irma M. Munoz-Baell, Carlos Alvarez-Dardet,
M. Teresa Ruiz-Cantero, and Emilio Ferreiro-Lago
7 C
hildhood Eye Disorders and Visual Impairment 131
Jugnoo S. Rahi and A. Lola Solebo
8 E
valuating School-Aged Children with Visual Disabilities 153
Diane B. Whitaker and Elana M. Scheiner
9 O
ral Health Access Issues for Children
Nancy J. Murray and Mary Anderson Hartley
10 Tuberculosis: The Special Needs of Children 189
Elisabetta Walters, Elizabeth Lutge, and Robert P. Gie
11 Children with Multiple Sclerosis 213
Yann Mikaeloff
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xii
12 F
etal Alcohol Spectrum Disorders: Review of Teratogenicity,
Diagnosis and Treatment Issues 231
Jacquelyn Bertrand and Elizabeth Parra Dang
13 N
ewborn Screening for Congenital Disorders in Routine
and Research 259
Bent Nrgaard Pedersen and David Michael Hougaard
14 G
enetic and Metabolic Conditions for Children
David Hollar
15 D
evelopment from Conception through Adolescence:
Physiological and Psychosocial Factors Impacting Children
David Hollar
16 U
sing Population-Based Survey Data to Monitor the Health
of Children and Youth with Special Health Care Needs
and Disabilities 307
Willi Horner-Johnson and Kathleen Newton
17 S
econdary Conditions in Youth with Disabilities 335
Jennifer L. Rowland
18 A
ccessible Substance Abuse Prevention for All Children 353
Jo Ann Ford, Judson Workman, Navid Masoudi,
Mary Huber, Theresa Mayer, and Karel Pancocha
19 R
esearch Methods and Epidemiology for Children
David Hollar and Arun Karpur
20 A
ddressing Bullying Among Students with Disabilities
Within a Multi-Tier Educational Environment 383
Chad A. Rose, Stephen Allison, and Cynthia G. Simpson
21 B
uilding a Medical Home for Children and Youth
Renee M. Turchi and Marie Y. Mann
22 E
pilogue: Advancing Health Outcomes
and Social Participation for CSHCN 419
David Hollar
Glossary 423
Index 425
Contents
Author Information
Stephen Allison, MD, Ph.D. is the Clinical Director of the Child and Adolescent Mental Health Service at the teaching hospital of Flinders University
in South Australia. He trained as a psychiatrist and works in the pediatric consultation liaison service at Flinders Medical Centre in Adelaide. His clinical
practice includes the multidisciplinary assessment and collaborative care of
CSHCN across pediatric and educational settings. He has a particular interest
in the development of supportive networks for the families of children with
disabilities. His research has focused on the predictors of suicide risk among
high-school students and school effects on adolescent depression. These
studies have been funded within national programs for suicide prevention and
improving primary care in Australia. More recently he has been part of a collaborative group investigating school bullying as a risk factor for depression
and poorer health-related quality of life. The group is developing coordinated
school and clinical approaches for the treatment of adolescent depression in
the context of bullying victimization. He has published numerous program
evaluations in mental health and is involved in the national benchmarking of
child and adolescent mental health in Australia.
Ann I. Alriksson-Schmidt, Ph.D., MSPH is a developmental psychologist
at the National Center on Birth Defects and Developmental Disabilities at
the Centers for Disease Control and Prevention. Her main research interests
involve children and adolescents with disabilities, in particular disabilities
that limit mobility. Most of her recent work has focused on individuals growing up with spina bifida. Dr. Alriksson-Schmidt has spent the last 5 years
of her career at Centers for Disease Control and Prevention but in 2010 she
accepted a position at the Department of Orthopedics at Lund University in
her native Sweden.
Carlos Alvarez-Dardet, Ph.D. is Professor of Public Health at the University of Alicante, and Director of the Public Policies and Health Observatory.
At present, his main interests include social justice and minorities rights. He
served as President of the Spanish Public Health Association (19901994),
President of the European Public Health Association (19941997), and Editor
in Chief of the Journal of Epidemiology and Community Health (19982008).
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xiv
Jacquelyn Bertrand, MD, Ph.D. is a child psychologist with the Centers

for Disease Control and Prevention (CDC), National Center on Birth Defects
and Developmental Disabilities, Fetal Alcohol Syndrome Prevention Team.
She earned her undergraduate degrees at the University of Massachusetts,
received her research training at the University of Connecticut, and completed her clinical training at Emory University. Dr. Bertrand has conducted
federally funded research on the neurodevelopment of children, including
children with genetic disorders, children exposed to environmental toxins,
and children with prenatal exposure to alcohol. Since 1996, she has worked at
the Centers for Disease Control and Prevention conducting original research,
providing oversight to funded projects and participating in policy efforts to
improve the understanding, identification, and treatment of children with
developmental disabilities. Dr. Bertrand has published many scientific articles and presented nationally and internationally on developmental disabilities including Fetal Alcohol Spectrum Disorders. Finally, Dr. Bertrand is a
member of several local and national committees devoted to improving prevention of prenatal exposure to alcohol, and improving the lives of affected
children and their families.
Elizabeth Parra Dang, MD, MPH is a behavioral scientist with the Centers for Disease Control and Prevention (CDC), National Center on Birth
Defects and Developmental Disabilities, Fetal Alcohol Syndrome Prevention
Team. Elizabeth began working in the area of fetal alcohol spectrum disorders (FASDs) in 2001 and since that time, has served as the technical monitor
for various projects involving the prevention of FASDs through health education, health communication, and program implementation and evaluation. In
addition, Elizabeth is involved in various health communication initiatives
for the FAS Prevention Team. Elizabeth also serves on the Advisory Council
of the Georgia chapter of the National Organization on Fetal Alcohol Syndrome (NOFAS). Prior to working with the FAS Prevention Team, Elizabeth
worked in CDCs National Immunization Program, CDCs National Center
for Injury Prevention and Control, and with the Indian Health Service in the
area of injury prevention. Elizabeth has a B.A. in Psychology from Oglethorpe University and an M.P.H. in Behavioral Science from Emory Universitys
Rollins School of Public Health.
Emilio Ferreiro-Lago, Ph.D. is currently responsible for the coordination
of the Spanish Sign Language Policy Unit at the CNSE Foundation for the
Suppression of Communication Barriers, a Spanish R&D NGO. His recent
work focuses primarily on deaf bilingual education and the normative aspects
of sign language promotion. Trained as a Generalist Teacher for primary education at the University of Vigo, he has worked in Deaf advocacy service for
the past 20 years. From 2003 to 2006, he was Vice-President of the Spanish
National Confederation of Deaf People.
Jo Ann Ford, MRC is the Associate Director, and a cofounder, of the Substance Abuse Resources and Disability Issues (SARDI) program at Wright
State Universitys Boonshoft School of Medicine in Dayton, OH. She has a
Masters degree in Rehabilitation Counseling from Wright State University
Author Information
Author Information
xv
and a Bachelors degree in Education from Bowling Green State University in

OH. Ms. Ford has served as Principle Investigator on several projects relating
to HIV, disability, and/or substance abuse prevention and treatment. She has
written and cowritten a number of consumer-oriented manuals, brochures,
and other materials as well as manuals and transcripts for professionals.
Previously, she has worked as a counselor in adolescent inpatient substance
abuse treatment and adult outpatient substance abuse treatment. She has also
served as a counselor in an intervention program for DUI offenders and as a
prevention educator in a number of community-based programs. She also has
worked in a number of rehabilitation settings providing work adjustment and
personal adjustment services to people with disabilities. Her interests include
substance abuse and violence issues for women with disabilities; developing
alternative treatment programming for people with different learning needs,
and health care for people with disabilities.
Robert P. Gie, MD is professor and a principal specialist in the Department
of Pediatrics and Child Health at Stellenbosch University, South Africa. He
is the head of the Pediatric Intensive Care Unit and Pediatric Pulmonology.
His research interest is the diagnosis and treatment of childhood intrathoracic
tuberculosis. He has published three books, seven chapters in books and more
than 140 articles in peer-reviewed journals.
Mary Anderson Hartley, BA is the manager of the Disability Healthcare
Initiative at ACHIEVA, working on access, policy, and education solutions
for individuals with disabilities. Mary is the mother of a child with autism.
A graduate of Ohio Universitys Honors Tutorial College, she has spent the
majority of her career in corporate and university research, in business and
community projects to facilitate problem solving. Since 2004, ACHIEVA has
been successfully working on access solutions to increase care for children
and adults with disabilities in Pennsylvania. The Disability Healthcare Initiative works with a stakeholder group comprised individuals with disabilities and their families, dental professionals, government agencies, educators,
insurance companies, foundations, and advocates. Information about the Disability Healthcare Initiative can be found at http://www.achieva.info/disabilityhealthcareinitiative.php.
David W. Hollar, Jr., Ph.D., MS (David_Hollar@med.unc.edu) is an Assistant Professor in the University of North Carolina School of Medicine, Chapel Hill. His focal areas are epidemiological research on risk behaviors and
diagnostic health conditions for persons with disabilities, using secondary
longitudinal clinical and public health databases. Prior to UNC, he was a
faculty member, project manager, and evaluation specialist for HRSA and
AHRQ-funded electronic medical records projects for children with genetic
or metabolic conditions at the University of Tennessee Graduate School of
Medicine in Knoxville. He received the Ph.D. from UNC-Greensboro, where
he received the graduate schools outstanding dissertation award in 1997,
as well as MS and BS degrees in Molecular Biology and Biology (Honors),
respectively from Vanderbilt University and UNC-Chapel Hill. He completed
postdoctoral research at the National Institute on Disability and Rehabilita-
xvi
tion Research (NIDRR)-funded Rehabilitation Research and Training Center

on Substance Use and Employment located at Wright State University, Dayton, Ohio. He has extensive training and applied experience with multivariate
statistical analyses and mathematical modeling, including Structural Equation Modeling and Hierarchical Linear Modeling. He has contributed to both
Healthy People 2010 and 2020, Disability and Secondary Conditions, and
is an active member of the American Public Health Association (Disability
Section), and the editorial board of the Maternal and Child Health Journal,
published by Springer.
Willi Horner-Johnson, Ph.D. is a Research Assistant Professor of Public
Health and Preventive Medicine at OHSU. Her research is focused on health
promotion for people with disabilities and on studying disability-related disparities in health and access to care. Dr. Horner-Johnson has served as Epidemiologist for the Oregon Office on Disability and Health since 2002. In this
role, she recently presented data from the Oregon Healthy Teens survey on
health risks and health needs among youth with disabilities and chronic conditions. She is currently Principal Investigator of Project Intersect: Addressing Health Disparities at the Intersection of Race, Ethnicity, and Disability,
funded by a cooperative agreement between the National Center on Birth
Defects and Developmental Disabilities and the Association of University
Centers on Disabilities. She is also directing a subaward from the University of New Hampshire for the Health and Health Care Disparities among
Individuals with Disabilities project funded by the National Institute on Disability and Rehabilitation Research. Dr. Horner-Johnsons other research
interests include measurement of health-related quality of life among adults
with disabilities. In the past, she has conducted research and training on
attitudes toward and maltreatment of people with disabilities. Dr. HornerJohnson received her Ph.D. in Community Psychology from the University
of Illinois at Chicago and completed a postdoctoral fellowship in disabilities
and health at OHSU. Since coming to OHSU, she has been active in the public health field in Oregon and nationally. In 2009, she received a New Investigator Award from the Disability Section of the American Public Health
Association.
David Michael Hougaard, MD, D.Sci. is a physician and research scientist
with the Section of Neonatal Screening and Hormones, Department of Clinical Biochemistry and Immunology, Statens Serum Institut, Artillerivej, Denmark. He is head of the section on Neonatal Screening and Hormones. He has
extensive experience with newborn screening and tandem mass spectrometry,
and he has published widely on these topics.
Mary Huber, Ph.D. is Director of Research and Evaluation at the National
Center on Family Homelessness in Needham, MA. She was formerly a
research fellow for the University of Michigans Addiction Research Center
(UMARC). She received her Ph.D. in Educational Psychology from the University of Washington and completed a postdoctoral fellowship in Medical
Rehabilitation Research in the Department of Physical Medicine and Rehabilitation at the University of Michigan in 1997. She worked for Solution
Author Information
Author Information
xvii
Point, a health care outcomes company, as a methodologist providing technical support to hospitals and health care organizations. Her graduate work has
been a combination of her clinical interests and background in the rehabilitation of persons with disabilities and her technical expertise in measurement,
statistics and research design. She has had numerous consulting positions
including Washington Research Institute, National Rehabilitation Hospital
Research Center, and Paralyzed Veterans of America. The focus of her publications has been in the areas of psychosocial aspects of disability, health
outcomes, and improving research methods within the health care field.
Sunil Karande, MD (Pediatrics), DCH, FIAP is Professor of Pediatrics and
In-Charge of the Learning Disability Clinic at the Department of Pediatrics,
Seth Gordhandas Sunderdas Medical College and King Edward VII Memorial Hospital, Mumbai, India which is also his alma mater. He has been working in the field of learning disabilities for the last 12 years and has published
12 original articles and three Editorials related to this field in peer-reviewed
journals which are indexed on Pub Med/Medline. His recent research is on
quality of life of children with specific learning disabilities and on recollections of learning-disabled adolescents of their schooling years. Since 2007
he has been a Fellow of the International Academy for Research in Learning
Disabilities, USA. In the year 2009, he was elected as a Fellow of Indian
Academy of Pediatrics. Since the year 2008, he is an Associate Editor of the
Indian Journal of Pediatrics. For the year 2011, he is a National Advisory
Board Member of Indian Pediatrics, the official journal of the Indian Academy of Pediatrics. Over the years he has been a Reviewer for several international journals such as Acta Paediatrica, African Health Sciences, American
Journal of Medical Genetics, BMC Family Practice, BMC Infectious Diseases, BMC Pediatrics, British Journal of Clinical Pharmacology, Child and
Adolescent Psychiatry and Mental Health, Emerging Infectious Diseases,
European Journal of Pediatrics, Italian Journal of Pediatrics, Patient Education and Counseling Pediatrics, and Pediatric Rehabilitation; and for several Indian journals such as Indian Journal of Community Medicine, Indian
Journal of Medical Research, Indian Journal of Medical Sciences, Indian
Journal of Pediatrics, Indian Pediatrics, International Journal of Ayurveda
Research, Journal of Postgraduate Medicine and Neurology India (karandesunil@yahoo.com; Tel (Office): 91-22-24107559; 91-22-65182624).
Arun Karpur, M.B.B.S., MD, M.P.H. is a medical doctor from India and
has a Masters degree in Public Health (Epidemiology Major) from University of South Florida, Tampa, Florida. Dr. Karpur is currently working as
Extension Faculty for the Model Transition Project, within the Employment
and Disability Institute, ILR School at Cornell University. Previously, Dr.
Karpur worked as a Research Faculty in the Department of Child and Family
Studies at the Florida Mental Health Institute, University of South Florida.
His current research interests include program evaluation of transition programs, impact assessment of various strategies in transition, and longitudinal
analysis of existing administrative databases to follow postsecondary outcomes for young people with disabilities. Dr. Karpur has also developed several transition-tracking systems for youth with disabilities, e.g., Transition
xviii
of Adulthood Program Information System (TAPIS), Transition Evaluation

Tracker. Dr. Karpur currently holds a license to practice medicine in India. He
worked in the areas of reproductive and child health, infectious disease epidemiology, and HIV/AIDS prevention and care research in India. He represented the India team at International AIDS Conference in Barcelona, Spain,
2002.
Elizabeth Lutge, MD, Ph.D. is a medical doctor with postgraduate qualifications in epidemiology and public health, and is a Fellow of the College of
Public Health Medicine of South Africa. She works as a senior researcher at
the Health Systems Trust, a nongovernmental organization engaged in health
systems research and development in South Africa (Elizabeth@hst.org.za
(www.hst.org.za).
Marie Y. Mann, MD, MPH, FAAP is a pediatrician, program administrator, and research scientist with the Genetic Services Branch, Maternal and
Child Health Bureau, United States Health Resources Services Administration (HRSA). She has extensive experience in pediatric health care and has
published widely on public health advocacy for CSHCN. She has overseen
projects related to the development of medical homes across the United
States, including improved access to health care services, advancement of
newborn-screening programs, and utilization of electronic medical records
to enhance health care system interoperabilities. Dr. Mann is a fellow of the
American Academy of Pediatrics and is active in numerous national public
health organizations.
Andrew J. Martin, Ph.D. is Professorial Research Fellow in the Faculty of
Education and Social Work at the University of Sydney. His research interests include motivation, engagement, achievement, and quantitative research
methods. Requests for further information about Chap. 3 can be made to
Professor Andrew J. Martin, Faculty of Education and Social Work, A35
Education Building, University of Sydney, NSW 2006, Australia. E-Mail:
andrew.martin@sydney.edu.au. Phone:+61 2 9351 6273. Fax:+61 2 9351
2606.
Navid Masoudi, Ph.D. has a doctorate in inclusive education for children
with Down syndrome from Queens University Belfast. She also holds a BS
and an M.A. in Speech and Language Pathology from Tehran University of
Social Welfare Rehabilitation Sciences. She had 8 years experience of working as a therapist and 2 years as a university clinical supervisor before she
started her Ph.D. program. Her interest in inclusive education stemmed from
working with children with Down syndrome during her career both in special and mainstream schools in her homeland, Iran. She received a full academic scholarship from Queens University Belfast for her Ph.D. study. Dr.
Masoudi has conducted research in various areas including phonological features of stop consonants production in youth with hearing loss, inclusive education for children with Down syndrome, alcohol and drug abuse prevention
among middle-school students, and unsuccessful case closure in Vocational
Rehabilitation Services. The paper on unsuccessful case closure in Vocational
Rehabilitation Service, in which she was a coauthor, was accepted to be published in Journal of Applied Rehabilitation Counseling (2011).
Author Information
Author Information
xix
Theresa Mayer, M.Ed. is a consultant with the PALS program at SARDI,

Wright State University. She has a Bachelors degree from Ohio State University in special education and a Masters degree from The University of
Northern Colorado in the education of the multihandicapped. She taught students who were multihandicapped for 8 years. She quit teaching after being
involved in an automobile accident, which caused a spinal cord injury. After
the accident, Ms. Mayer spent several years in rehabilitation rebuilding her
strength. She then spent her time raising her children, coordinating an afterschool enrichment program, doing disability awareness programs for the different schools, and working with a committee on accessibility to make her
local community more accessible to people with disabilities. Ms. Mayer has
been a strong advocate for people with disabilities and has worked with several projects in a variety of capacities to assure appropriateness of research,
training, and dissemination activities.
Yann Mikaeloff, MD, Ph.D. is a pediatrician and researcher who specializes
in neuropediatrics with Hpital Bicetre, the medical faculty of the University
of Paris-Sud, and the INSERM research center on epidemiology in France.
He has published extensively on multiple sclerosis and other neuropathological conditions experienced by CSHCN (yann.mikaeloff@bct.aphp.fr).
Irma M. Munoz-Baell, Ph.D. is a Senior Lecturer in General Linguistics
and a public health researcher at the University of Alicante. With a diverse
background in philosophy and arts, language pathology and therapy, and
public health in United Kingdom and Spain, she has more than 80 conference
presentations and published works. Her research interests at present focus on
the health of minority language/disadvantaged groups; with an emphasis on
the intersection of deaf bilingual education, inclusive education and school
health promotion at the national and international levels; the implications in
public policies of the social/human-rights-based model of disability; and sign
linguistics.
Nancy J. Murray, M.Ed. is the president of The Arc of Greater Pittsburgh.
She has 30 years of experience in the disabilities field in the areas of public
policy, advocacy, supports coordination, medical care, and state government
serving people with disabilities and their families. She has conducted hundreds of seminars/workshops and has written numerous articles for families
and professionals on disability issues. Nancy received her bachelors degree
in psychology from Gettysburg College and her masters in child development from the University of Pittsburgh. Nancy is the mother of two adults
with intellectual disabilities.
Kathleen Newton, MPH, BS is a student in the Oregon Masters of Public
Health Program, Epidemiology and Biostatistics track, at Oregon Health &
Science University in Portland, Oregon. She has completed coursework in
Disability and Public Health and in Maternal and Child Health. She is currently a research intern with the Oregon Hemophilia Treatment Center. Ms.
Newton has worked as a program evaluator and research assistant in childrens health, mental health, and child health policy research.
xx
Carol A. Page, Ph.D. is the Director of the South Carolina Assistive

Technology Program at the USC School of Medicine, Center for Disability Resources. She received her Ph.D. degree in speech-language pathology
from the University of South Carolina and her assistive technology practitioner certificate from the Rehabilitation Engineering and Assistive Technology
Society of North America. She has extensive experience in providing literacy
and augmentative and alternative communication trainings, demonstrations,
and consultations to children and adults with disabilities and special needs.
Karel Pancocha, Ph.D. is an assistant professor in the Department of Special Education at Masaryk University, Brno, Czech Republic. During 2009,
he was a Fullbright Scholar studying substance use risk factors among individuals with disabilities at the Wright State University Boonshoft School
of Medicine, where he conducted research with Dr. Dennis Moore and Ms.
Jo Ann Ford. Dr. Pancocha has used the PALS prevention activities at the
Kocianka Elementary School in the Czech Republic.
Bent Nrgaard Pedersen, MD got his MD from Aarhus University in 1965.
After 5 years of clinical positions he was employed at Department of Clinical
Biochemistry, Rigshospitalet, University of Copenhagen, where he got his
specialist license in laboratory medicine in 1976 and received his Doctorate of Medical Science from Copenhagen University in 1976. In 1996, he
became the first Professor in Biochemical Screening at Copenhagen University. After an employment as Consultant and Head of Department at Department of Clinical Biochemistry at Sonderborg Hospital (19761983) he was
offered the position as Head of Department of Clinical Biochemistry at Statens Serum Institute in Copehagen (1984 to retirement in 2008). Nrgaard
Pedersen has been in charge of the Danish Neonatal-Screening Program since
1984, but also the Prenatal-Screening Program since the early 1970s. From
the early 1970s his main research has been in fetal and maternal pathophysiology as documented by his more than 320 peer-reviewed publications. In
neonatal screening, Dr. Nrgaard Pedersen has developed many new immunoassays and has been a pioneer in biobank studies looking for new marker
for old and new disorders. He has been a key person for use and regulation
of the Danish Newborn-Screening Biobank and his setup has been a model
worldwide. In July 2010, he was awarded the Guthrie Price 2009. He retired
in 2008, but he is still part-time employed at Statens Serum Institute and
actively involved in several national and international studies.
Donna Petersen, MHS, ScD is Dean of the College of Public Health and
Professor of Global Health at the University of South Florida. She earned her
masters and doctoral degrees in maternal and child health from the Johns
Hopkins School of Public Health. She has held faculty and senior leadership positions at the University of Alabama at Birmingham School of Public
Health, at the University of Minnesota, School of Public Health and was
Director of the Division of Family Health at the Minnesota Department of
Health. She is the author of numerous publications, book chapters and a
textbook on needs assessment in public health. She is a frequent lecturer on
topics related to maternal and child health, health care reform, and systems
Author Information
Author Information
xxi
change and leadership, and has provided extensive technical assistance and
training to more than 25 state health departments in the areas of needs assessment, data system development, systems-level accountability and the development of population-based indicators. She has served on numerous boards,
commissions and task forces and is currently Editor-in-Chief of the Maternal
and Child Health Journal, immediate Past-President of the National Board of
Public Health Examiners and Chair of the Education Committee for the Association of Schools of Public Health. She is also leading the undergraduate
public health learning outcomes project for ASPH and serves on the Council on Education for Public Health. Locally, she is a member of the Tampa
Bay Partnerships Health Task Force and the Hillsborough County Health
Care Advisory Board. She has been honored for her work by the American Public Health Association, the Association of Teachers of Maternal and
Child Health, the National Healthy Mothers, Healthy Babies Coalition, Delta
Omega National Public Health Honor Society, and the National Coalition for
Excellence in MCH Epidemiology.
Patricia D. Quattlebaum, M.S.P., CCC-SLP received her Master of
Speech-Language Pathology degree from the University of South Carolina.
Her work experience includes teaching at both the undergraduate and graduate levels, direct service provision in community clinics, and supervision of
practicum students. She has been a member of the interdisciplinary assessment team at the USC School of Medicines Developmental Pediatric Clinic
for many years and is a staff member at the South Carolina Assistive Technology Program. Throughout her career, she has actively promoted the use
of augmentative communication in children with severe speech and language
delays, and she coauthored A Practical Guide to Augmentative and Alternative Communication in 1999.
Jugnoo Rahi, MSc, Ph.D., FRCOphth is a practicing ophthalmologist who
holds academic and clinical posts at the University College London Institute of Child Health (UCL ICH)/Great Ormond Street Hospital (GOS) and
the UCL Institute of Ophthalmology (IO)/Moorfields Eye Hospital (MEH).
Professor Rahi has established a multidisciplinary epidemiological research
group within UCL which is taking forward research on eye disease and visual
impairment in childhood and on chronic complex eye diseases of adult onset
which originate in early life, with a research portfolio encompassing classical, life-course and genetic epidemiology, and health services research. She
has also contributed to national-level ophthalmic research through her roles
as epidemiologist to the British Ophthalmic Surveillance Unit and member of
key committees of the Royal College of Ophthalmologists.
Chad A. Rose, Ph.D. is an assistant professor of special education in the
Department of Language, Literacy and Special Populations at Sam Houston
State University. Prior to his employment at Sam Houston State University,
Dr. Rose served as a secondary special education teacher in the Fort Wayne
Community School System (Indiana) for 5 years. Dr. Rose received a BS in
elementary education and MS in special education from the University of
Saint Francis (Fort Wayne, IN), and a Ph.D. in special education from the
xxii
University of Illinois at Urbana-Champaign. His research focuses on unique

predictive and protective factors associated with the involvement of students
with disabilities in the bully dynamic and bully prevention efforts within a
multi-tiered framework. He has published book chapters and recent articles
in Remedial and Special Education and Educational Psychology exploring
the interplay between special education identification and bully perpetration
and victimization. Dr. Rose was nominated as the Higher Education Consortium for Special Education Virtual Intern, William Chandler Bagley Scholar,
Albin and Young Scholar in 2009, and he was the recipient of the University
of Saint Francis Distinguished Young Alumnus award in 2010.
Jennifer L. Rowland, Ph.D., PT, MPH is an Assistant Professor in the
Department of Disability and Human Development at the University of Illinois
at Chicago. Dr. Rowland is a licensed physical therapist, and her research and
teaching focuses on secondary condition prevention for people with disabling
conditions as well as for those aging into disability. She has received funding
from the Christopher and Dana Reeve Foundation, the National Institute on
Disability and Rehabilitation Research, and the Midwest Roybal Center for
Health Promotion at the University of Illinois at Chicago to investigate the
benefits of exercise and health promotion on daily living and independence
for people with disabling conditions. Dr. Rowland has held several leadership
positions with the Disability Section of the American Public Health Association, and she has been widely recognized for her research into secondary
conditions confronting persons with disabilities.
M. Teresa Ruiz-Cantero, Ph.D. is Professor of Public Health at the University of Alicante, and Director of the Public Health Research Group at the
University of Alicante. She is currently directing several research projects
financed by public agencies. Her main research interests at present include
disabilities, gender health inequalities, and epidemiology of chronic diseases.
Elana Scheiner, OD is in private practice in Apex, NC. She provides lowvision care to the Governor Morehead School for the Blind, Duke Eye
Center, North Carolina Division of Services for the Blind and adults and children with visual impairments throughout the state. Dr. Scheiner graduated
from the New England College of Optometry in Boston, MA and completed
her residency training in visual rehabilitation at the West Haven VA in West
Haven, CT. She is a member of the American Optometric Association Low
Vision Section as well as the North Carolina State Optometric Society. Her
contact email is mieoptic@mac.com.
Cynthia G. Simpson, Ph.D. has more than 18 years of experience in the
public and private sector as a preschool teacher, special education teacher,
elementary teacher, educational diagnostician, and administrator. She is currently in the higher education sector. She maintains an active role in the education and childcare industry and as an educational consultant in the areas of
assessment and inclusive practices. Her professional responsibilities include
serving on the National Council for Accreditation of Teacher Education
(NCATE)/National Association of Young Children (NAEYC) Review Panel,
as well as holding the position of State Advisor to the Texas Educational
Author Information
Author Information
xxiii
Diagnostician Association. She also represents college teachers as the Vice

President of Legislative Affairs for Texas Association of College Teachers.
Cynthia has many publications to her credit and is a featured speaker at the
international, national, and state level. She is currently an associate professor in the College of Education at Sam Houston State University where she
teaches courses in assessment and Special Education. Cynthia has received
numerous honors and awards and was recently awarded the 2008 Susan Phillips Gorin Award, the highest honor that can be bestowed on a professional
member of the Council for Exceptional Children by its student membership.
Her honors also include the 2007 Katheryn Varner Award (awarded by Texas
Council for Exceptional Children) and the 2009 Wilma Jo Bush Award. Cynthia received her doctoral degree from Texas A&M University and her undergraduate degree from Texas State UniversitySan Marcos.
Lola Solebo, BSc., MRCOphth is a trainee ophthalmologist with an interest
in pediatric ophthalmic epidemiology. Her research, based at UCL Institute of
Child Health, was on congenital and infantile cataract. As the coordinator for
a national prospective epidemiological study of outcomes following cataract
surgery in children 2-years-old, she impacted on local-level clinical policy
on the management of these children, and managed a national collaborative
research network made up of more than 160 consultant ophthalmic surgeons.
She has also been involved in national clinical policy through contributions
to the Department of Health National Screening Committee.
Judy K. Thibadeau, MN, RN works as a Health Scientist in the National
Center on Birth Defects and Developmental Disabilities, Centers for Disease
Control and Prevention. She coordinates the National Spina Bifida Program
which encompasses projects and research to improve the lives of individuals
affected by spina bifida and their families. Her activities include: research in
the areas of transition, care coordination, incontinence, and the natural history of spina bifida in children; the development of a Spina Bifida Electronic
Medical Record; the development and implementation of a National Spina
Bifida Patient Registry; and the development of a lifecourse logic model for
transition with the goals of health, independence, and participation.
Renee M. Turchi, MD, MPH, FAAP completed her undergraduate work
at Cornell University and medical school at Medical College of Pennsylvania. Dr. Turchi completed residency and chief residency at St. Christophers Hospital for Children in Philadelphia. Subsequently, she attended the
Robert Wood Johnson Clinical Scholars Program at Johns Hopkins University where she conferred her Masters in Public Health. Her research and
clinical work focus on children and youth with special health care needs
(CYSHCN). Renee is faculty at Drexel University School of Public Health
and Drexel University College of Medicine. In addition, she is the Director
of the Pennsylvania Medical Home Program (EPIC IC), a statewide quality
improvement program for pediatric practices across Pennsylvania. Dr. Turchi
is Medical Director of Special Programs at St. Christophers Hospital for
Children, where she oversees grants and program development and practices.
Her research and clinical work around care coordination and CSHCN have
been presented and published in multiple national forums. Dr. Turchi is a
xxiv
fellow of the American Academy of Pediatrics and the AAP Subcommittee

on Children with Disabilities, and she serves on the Executive Board, Family
Voices, a major advocacy group for CSHCN.
Elisabetta Walters, MD is a medical doctor with postgraduate qualifications in pediatrics, and is a Fellow of the College of Pediatricians of South
Africa. She works as a researcher at the Desmond Tutu TB Centre at Stellenbosch University, South Africa, a leading institution in the area of tuberculosis research. She conducted and published her MMed research study in the
field of pediatric HIV and TB, which remain the focus of her current research
(ewal@sun.ac.za (www.sun.ac.za/tb).
Diane Beaseley Whitaker, OD is a comprehensive optometrist with a specialization in low-vision rehabilitation and is an Assistant Professor of Ophthalmology and Service Chief for Low Vision Rehabilitation at the Duke
University Eye Center, Durham, North Carolina. Dr. Whitaker graduated from
the University of Houston College of Optometry and completed externship
training at Womack Army Medical Center and Cape Fear Eye Associates, PA.
Her experience includes low-vision training at the Lighthouse for the Blind
in Houston, Texas, and she provided low-vision services at the University of
North Carolina at Chapel Hill Department of Ophthalmology. Dr. Whitaker
also has extensive experience with refractive and cataract surgery care. She
is a member of the American Optometric Association Low Vision Section
and the North Carolina State Optometric Society. Dr. Whitaker is interested
in research designed to measure outcomes of low vision intervention and the
psychosocial aspects of visual disability. Specifically, she is interested in the
impact of early detection and treatment for clinical and subclinical depression
on the vision rehabilitation process.
Judson W. Workman, MS received his B.A. in Psychology from Wright
State University and his MS in Industrial/Organizational Psychology from
the University of Akron. He has worked as the research manager for the Team
Training and Spatial Orientation Laboratories within the Department of Psychology at WSU. He is currently a Research Associate with WSUs SARDI
Program within the Boonshoft School of Medicine. At SARDI, Mr. Workman
has worked as a program evaluator for several community-based projects providing Hepatitis C risk reduction, HIV prevention, and substance abuse treatment. He is also the program coordinator of the PALS program, an alcohol,
tobacco and other drug (ATOD) prevention program targeting middle-school
youth with alternative learning styles as well as students with disabilities.
He is currently a Registered Applicant with the Ohio Chemical Dependency
Credentialing Board, pursuing his prevention specialist credential. He has
published articles and conducted numerous presentations on topics including
leadership emergence in small-group settings; training methods for complex
skill development; substance abuse prevention education; and the evaluation
of the PALS substance abuse prevention program. His interests include the
integration of substance abuse prevention materials with HIV and Hepatitis
C risk reduction information. His goal is to meet the prevention and service
needs of underserved populations including minorities, women experiencing
domestic violence, and youth with disabilities/alternative learning styles.
Author Information
Policy: Its History, Intentions,

and Consequences for Children
with Special Health Care Needs
Donna Petersen
Abstract
Children who have special health care needs are a vulnerable population
developmentally, socially, and politically. The programs and services they
depend on to promote their optimal growth and development are subject
to the vagaries of public policy and its often inexplicable development
process. At the same time, children with special health care needs stand to
benefit greatly from policies that enable the provision of services and supports to them and their families. In this chapter, we will describe policy,
the evolution of policies for this population of children over time in a
variety of arenas, policy themes, and future avenues for policy direction.
Abbreviations
AMA
American Medical Association
EPSDT Early Periodic Screening, Diagnosis, and Treatment
IDEA
Individuals with Disabilities Education Act
IFSP Individualized Family Service Plan
OBRA Omnibus Budget Reconciliation Act
PKU Phenylketonuria
PL Public Law
SCHIP State Childrens Health Insurance Program
1.1Introduction
Policy, in general, is simply the statement of a
principle to guide decisions and actions toward
a particular objective. Policy represents a decision process where choices and modes of action
D. Petersen ()
University of South Florida, 13210 Bruce B. Downs
Boulevard, MDC 56, Tampa, FL 33612, USA
e-mail: dpeters@health.usf.edu
are made from numerous alternatives (MerriamWebster 2010). This appears straightforward but
the development of public policy is typically
anything but. In theory, policy is formulated in
a rational cycle beginning with the setting of the
agenda (or the identification of an issue or problem) followed by the formulation of the policy
(development of the strategy or solution), adoption, implementation, and evaluation. In reality,
policy development is often haphazard, compelled, or influenced by advancements in scien-
D. Hollar (ed.), Handbook of Children with Special Health Care Needs,

DOI 10.1007/978-1-4614-2335-5_1, Springer Science+Business Media New York 2012
tific knowledge, advocacy on the part of various

constituents, fiscal opportunities or constraints,
and political exigencies. Policy may achieve its
results and affect important social change, it may
fall short of its intentions, or it may create unintended consequences that necessitate further
policy development or amendments to existing
policy. We see all of this and more in a review of
major policy initiatives for the population of children with special health care needs in the United
States over the past century. As the overarching
responsibility for this population of children rests
within the federal-state partnership for maternal and child health services authorized under
TitleV of the Social Security Act, we approach
this review within this context. Many policies
and laws exist within the realms of education and
child welfare in addition to public health but none
has the broad mandate of TitleV, to assure the
health of all children (U.S. Congress 1981).
The following review will consider a chronology over the past century of policy debates and
actions for the population of children with special health care needs, addressing myriad health,
education, child welfare and related service and
system needs, highlighting persistent themes and
the varying roles of governmental agencies, providers, advocates, and parents. The chapter will
revisit the policy themes revealed through this
review and conclude with a discussion of future
avenues for policy action.
1.2Policy Roots
The idea that children could constitute a compelling societal interest emerged in the United States
in the middle to late-nineteenth century. The first
childrens hospital in the nation opened in Philadelphia in 1855 and others soon followed in Boston and New York. In 1860, Dr. Abraham Jacobi,
now known as the father of pediatrics, opened
the first childrens clinic at the New York Medical College, though it took nearly 20 years, until
1879 for him and others to persuade the American Medical Association (AMA) to establish a
Section on the Diseases of Children. Jacobi went
on to help develop the American Pediatric So-
D. Petersen
ciety in 1888, serving as its first president and,

in 1897, the State of Minnesota became the first
state to appropriate funds and organize a program
for handicapped children (Alexander etal. 2002).
These efforts, perhaps isolated, still represented
important movements toward the idea that the
health and well-being of children was of public
interest and coupled with other movements (the
advent of milk stations and settlement houses in
large urban areas, and growing concerns over the
institutionalization of dependent and neglected
children in orphanages) likely encouraged President Theodore Roosevelt to convene the First
White House Conference on Dependent Children
in 1909.
The outcomes of this conference were sweeping and led to a number of important policy initiatives, most notably the creation of the Childrens Bureau in the U.S. Department of Labor in
1912, the first organized effort at the federal level
directed at the well-being of children (American
Academy of Pediatrics 2002; Sheps and Alexander 2001; Lesser 1985; Miller 1988). Although
today we view this policy act as prescient in
establishing the foundation for decades of focused attention to the needs of children it was not
without controversy. Whether the well-being of
the nations children was a societal responsibility or strictly the purview of parental discretion
was hotly debated. In addition, concerns over the
federal government meddling in affairs rightly
left to the states further contributed to the 6 year
debate over enactment of the Childrens Bureau.
In the end, the act was propelled by the social
reformers of the progressive era who argued that
the health and vigor of children was important
for the progress of society (Takanishi 1978). Lillian Wald speaking in support of the act noted
whereas the Federal Government concerned
itself with the conservation of material wealth,
mines and forests, hogs and lobsters, and had
long since established bureaus to supply information concerning them, citizens who desired
instruction and guidance for the conservation
and protection of the children of the nation had
no responsible governmental body to which to
appeal (Wald 1971, pp. 757758). In the end,
those supporting a societal role and a federal role
1 Policy: Its History, Intentions, and Consequences for Children with Special Health Care Needs
in promoting the interests of children prevailed,

but the scope of the Childrens Bureau was limited; neither authorization nor appropriation was
given for the direct provision of services. Instead,
the Childrens Bureau was charged to investigate
and report upon all matters pertaining to the welfare of children and child life among all classes
of our people, which they did with great gusto,
investigating infant mortality, child labor, desertion, juvenile delinquency, illegal transportation
of children, and sex offenses against children
(U.S. Statutes 19111912). The systematic collection and reporting of data through a series of
rigorous studies enabled the leaders of the Childrens Bureau to advocate for a series of policies,
enacted by Congress, around each of these issues
(Magee 1985). In doing so, these leaders established the idea of data-based decision making
in matters of child health and welfare, what we
see continued today in the statutory requirements
under TitleV for states to conduct periodic needs
assessments and establish programs and policies
based on these data for the promotion and protection of the health of children and families (U.S.
Congress 1989).
1.3Policy Takes Shape

1.3.1The Sheppard Towner Act
of 1921
The investigative work of the Childrens Bureau
supported the passage of the Sheppard-Towner
Act in 1921, which provided the first federal
grants-in-aid to states to support health and related services for mothers and infants (U.S. Congress 1921; Margolis etal. 1997). Like the initial
creation of the Childrens Bureau, this act was
fraught with controversy, again over the same issues (parental rights and states rights) but heightened by the clear intent of the law to support the
establishment of offices within each state for the
organization of services to families. Roundly denounced as socialistic, yet it was passed, likely
due to the fact that it was the first piece of national legislation to be proposed following the
passage of the nineteenth amendment which gave
women the right to vote and members feared that

this new voting bloc would not treat kindly congressional representatives who did not support
issues of clear interest to women (Brosco 2010).
Sheppard-Towner was important in that it
established the principle of public responsibility for the nations children, even going so far
as to require that services be made available to
all residents of the state, and further accelerated the establishment of offices of maternal
and child health in state health departments (in
some cases even leading to the creation of state
health departments in which to house such an
office). A concerted lobbying effort on the parts
of the AMA (against governmental interference
in the private practice of medicine), the Catholic Church (concerned about competition with
Catholic Charities) and the Public Health Service
(against medical services organized by the Department of Labor) ultimately brought down the
Sheppard-Towner Act. In fact, the AMAs opposition to the act despite strong support from its
pediatric section led the pediatricians to split off
and form the American Academy of Pediatrics
which today remains one of the strongest advocacy organizations for childrens health issues in
the nation.
Though ultimately repealed in 1929, the idea
that the federal government could support states
through a grants-in-aid program was firmly rooted and the Childrens Bureau continued to investigate and report on providing data that enabled the Bureau to continue to advocate around
conditions of children, particularly following the
stock market crash of 1929 and the Great Depression. The U.S. Secretary of Labor, Frances
Perkins, sent the then-director of the Childrens
Bureau, Katharine Lenroot, to assure that language specific to the needs of children was included in the Social Security Act being drafted by
the Committee on Economic Security convened
by President Franklin Roosevelt (Witte 1963).
Though the authorizing language was simple and
concise, TitleV firmly established what had been
put in motion by the Childrens Bureau and later
through the Sheppard-Towner Act: grants-in-aid
to states to support maternal and child health services.
1.3.2Maternal and Child Health

Services, Title V of the Social
Security Act of 1935
While children with special health care needs
benefit from any policy directed at children, they
did not emerge as a particular policy focus until
the enactment of the Social Security Act in 1935,
within which TitleV explicitly created Crippled
Childrens Services programs and instructed
states to insure services for locating crippled
children as well as providing services and facilities for diagnosis, hospitalization and aftercare
(Hitchcock and Mulvihill 2010; U.S. Congress
1935). The funding formula for the Crippled
Childrens Services component of TitleV included an equal share to each state as well as an allotment based on the number of children served,
providing an incentive to reach more children. In
addition, states were to provide for cooperation
with medical, health, nursing and welfare groups
and organizations, and with the state vocational
agency (Lesser 1985). Two policy principles are
worth highlighting here, the first being the initial directive to, in essence, locate and treat what
were then referred to as crippled children, suggesting that the initial focus was on those conditions that were easily identifiable, e.g., orthopedic conditions, cleft lip, and palate, etc. The second is the recognition, even at this early date, that
children with special health care needs would of
necessity encounter various organizations, professionals and programs in their attempts to receive needed services and supports, and that it
would be this particular agency that would serve
the necessary coordinating role among them all.
While the debate over societal responsibility for
children may have continued to rage, the suffering brought about by the Great Depression could
not be ignored, nor could the needs of what were
widely recognized as particularly vulnerable and
dependent children, those with handicapping
conditions. The societal safety net for children
with special health care needs was thus born with
the enactment of Title V of the Social Security
Act in 1935. It is further worth noting that TitleV
also included a provision for direct funding to
the Childrens Bureau, beyond that provided di-
D. Petersen
rectly to states, for demonstration projects to be

conducted in cooperation with the states. This
very important provision, together with the required state match, helped cement the idea of a
federal-state partnership in continuing to advance
knowledge around the effectiveness of various
interventions. These Part B funds not only supported demonstration projects, but over time enabled the development of training programs and
research efforts, both important to programs for
children with special health care needs.
TitleV funding greatly accelerated the development of state programs for crippled children,
the development of child health clinics, and training programs for specialists needed to serve these
populations. Having a focus within each state on
these children coupled with ongoing data collection by the Childrens Bureau led to the recognition that there were other conditions, less
overtly obvious than orthopedic impairments that
deserved similar attention. In 1937, Martha May
Eliot, the then-director of the Crippled Childrens
program within the Childrens Bureau argued
specifically for children with rheumatic fever,
rheumatic heart disease, and vision and hearing impairments as part of an attempt to create
a national health program for mothers and children. Though any national health program was
vigorously opposed by the AMA, the Childrens
Bureau still managed to secure an increased appropriation through Title V to care for children
with rheumatic heart disease. This policy act
marked an important advancement in programs
for crippled children that now included attention
to chronic illnesses as well as physical handicaps
(Hitchcock and Mulvihill 2010).
1.3.3Aid to Dependent Children,

Title IV of the Social Security
Act of 1935
In helping to craft the Social Security Act in 1935,
the leaders of the Childrens Bureau also sought,
in addition to organizing maternal and child
health services, to provide income assistance to
children impoverished in the Great Depression.
Title IV of the Social Security Act, Aid to De-
pendent Children, was designed to provide cash

payments to mothers who needed support for
their dependent children (Schmidt and Wallace
1994). The Social Security Act also served as the
vehicle for the first federal legislation designed
to promote welfare services for children needing special care, i.e., homeless, dependent and
neglected children and children in danger of becoming delinquent (Oglesby 1988). The ChildWelfare Services language appeared in Part3 of
TitleV (Parts1 and 2 containing language around
maternal and child health and crippled childrens
services, respectively). Part4 of TitleV provided
support to states to enhance programs of vocational rehabilitation for the physically disabled.
Unlike the fierce debates that marked the enactment of the Childrens Bureau in 1912 and the
Sheppard-Towner Act in 1921, there was strong
and broad-based support for TitleIV and V as indeed there was for the entire Social Security Act.
The confluence of economic, social, and political realities associated with the Great Depression
necessitated that the federal government take
action. Issues of states rights were less prominent as were issues of individual freedoms and
parental rights. Even the AMA acquiesced, as
they were likely more concerned about fending
off continuing attempts to create a national health
insurance program (Witte 1963).
The Social Security Act provided needed supports to a variety of constituent groups in the
areas of income maintenance, social services and
health but did not include a true national health
insurance program. Despite various efforts over
the years to establish such a program, advocates
succeeded only in piecemeal approaches, like
that described above. TitleV was amended during the Second World War to provide emergency
maternity and infancy services to the wives of
enlisted servicemen, which had the unintended
consequences of greatly improving hospital maternity care and establishing the principle of payment to hospitals for the actual costs of services
delivered. Though the program was terminated at
the end of the war, it successfully engaged the
federal government, state health departments,
hospitals, and providers in a national effort to
provide publicly funded medical care to a large
population of women and children (Alexander

etal. 2002).
1.3.4Mental Retardation
The White House Conference on Children in
1950 (following the first successful conference
in 1909, similar conferences were held every decade) focused on mental retardation and like earlier White House Conferences, the deliberations
eventually led to new policy. The Childrens Bureau began to award funds for community mental health programs in the early-1950s (Schmidt
and Wallace 1994) and in 1957, Congress again
increased the appropriation to TitleV, this time
earmarking funds for clinical demonstration programs to serve children with mental retardation
(Alexander etal. 2002). By 1963, Congress had
created the first categorical program for the mentally retarded in PL 88-164, the Mental Retardation Facilities and Community Mental Health
Centers Construction Act with an emphasis on
community facilities for the care and treatment
of this population (Oglesby 1988). These actions
marked the second advancement in the population of children served by state programs for crippled children as they now attended to issues relating to developmental disorders, in this case, mental retardation. Attention to children with mental
retardation was further facilitated by the development of a test for phenylketonuria, or PKU, the
identification and subsequent treatment of which
could prevent mental retardation. This scientific
breakthrough led eventually to newborn screening programs for a variety of inborn errors of metabolism and other detectable genetic disorders
toward the prevention of their negative sequela.
Today, state health departments can screen for
up to 30 core disorders and an additional 26 secondary conditions (American College of Medical Genetics 2006). The ability to detect PKU in
blood drawn from a newborn further expanded
the role of state Title V programs for crippled
children both by encouraging a broadening of the
programs focus to all newborns and by requiring follow-up for all those screened positive in
order to optimize the benefit of the screening test.
Follow-up included referrals for further diagnostic testing and if positive, links to nutritional
supplementation products, preventive care, and
anticipatory guidance.
1.3.5Developmental Disabilities
Councils
The idea that some crippling conditions could
be prevented was heralded as a significant scientific advance but also raised some discomforting
questions about persons whose conditions were
not prevented and whether as a society, the safety
net was providing sufficient support to them. Resource limitations often force sometimes painful
policy discussions about the relative merits of
investing in treatment for persons with existing conditions versus preventive approaches for
future generations. Perhaps as a result of these
discussions, the Developmental Disabilities Service and Facilities Construction Act was passed
in 1970, creating Developmental Disabilities
Councils in each state designed to advocate for
and organize supports on behalf of persons with
developmental disabilities. At that time, the definition was broadened from mental retardation to
include other neurologic conditions that require
long-term care. In related amendments to the
Social Security Act, funds were appropriated to
create University Affiliated Programs to provide
community-based care and a locus for training
specialty providers in the interdisciplinary care
of children and adults with developmental disabilities and complex medical conditions (Oglesby 1988).
1.3.6Medicare, Medicaid, and

Amendments to the Social
Security Act of 1965
Later amendments to TitleV to establish Maternal and Infant Care and Children and Youth projects (PL 89-87) further established the principle
of comprehensive service provision to defined
populations. Interestingly, these amendments
D. Petersen
were made at the same time as the laws creating

Medicare and Medicaid (TitleXVIII and XIX, respectively) were added to the Social Security Act
in 1965 as part of President Lyndon Johnsons
War on Poverty and the Great Society movement.
Though Medicaid provided the greatest opportunity for improving access to health care for lowincome and disabled children by providing health
care coverage, the law did not speak to the need
for comprehensive care as did the amendments to
TitleV creating the Children and Youth Projects;
Medicaid benefits were in fact limited primarily
to acute medical care services and did not include
preventive care. In addition, Medicaid eligibility
was initially linked to eligibility for Aid to Families with Dependent Children, an often stricter
eligibility standard than that observed by many
state TitleV programs. Here we see policy action
creating opportunities for, but also challenges to,
state TitleV programs which now had to find the
means to coordinate with a large and important
new program but with a rather narrow focus,
given the complexity of childrens health issues
and the variety of their needs.
1.3.7Head Start
In addition to providing health care coverage to
the elderly and low-income women and children
through Medicare and Medicaid, the War on
Poverty and the Great Society movement also focused generally on eliminating poverty. The Economic Opportunity Act of 1964 included a single
line authorizing a new program focused on early
childhood. Project Head Start was launched in
1965 as a summer program for low-income children between the ages of 3 and 5 years and quickly grew due to its wide popularity. Head Start was
legislated in 1967 as TitleV-A of the Economic
Opportunity and Community Partnership Act. In
addition to its focus on intellectual stimulation,
Head Start programs included a focus on health
and provided mechanisms for referrals to medical and dental services, nutritional evaluations,
speech and developmental assessments, and vision and hearing screenings (Administration of
Children and Families 2010; Stubbs 1994). In

addition to providing some of the earliest forms
of early intervention for children at risk of developmental delays, as of 1974 Head Start sites were
mandated to enroll and integrate at least 10% of
children with handicaps in their service populations, meeting to some extent the needs of this
population directly (Stubbs 1994). Also important as a policy innovation, Head Start encouraged parental involvement in every aspect of the
programs child development activities, health
services, program planning, and operations.
1.3.8Early Periodic Screening,

Diagnosis, and Treatment
(EPSDT)
In response to concerns over Medicaids limited
impact on children, in 1967, the Johnson administration submitted amendments to both TitlesXIX
(Medicaid) and V (Crippled Childrens Services)
of the Social Security Act to create the Early
and Periodic Screening, Diagnosis and Treatment Program, better known as EPSDT. EPSDT
called for comprehensive physical and developmental exams, vision and hearing screening,
laboratory tests, dental referral, immunizations,
and payments for services covered by the state to
increasing numbers of eligible children according to a periodicity schedule designed to conform
to accepted standards of care (Saunders 1988).
EPSDT encouraged states to locate and treat children eligible for Medicaid coverage and incentivized providers through enhanced reimbursements
to include the full array of screening, diagnosis,
and treatment provisions required in the law. At
the same time, it is also likely that the enactment
of Medicaid and the EPSDT provisions resulted
in the expansion of community-based clinics and
that the link to the TitleV program for crippled
children may have led to the growth in publicly organized and financed specialty clinics,
fragmenting the overall health care system into
pieces, one set for healthy children with private
insurance, another set for low-income children
with special health care needs.
1.3.9Supplemental Security Income,

Title XVI of the Social Security
Act
In 1974, the Supplemental Security Income childhood disability program (TitleXVI of the Social
Security Act) began providing cash payments to
low-income children with chronic and persistent
disabilities. In addition, receipt of such cash payments in nearly every state also conferred Medicaid eligibility. In 1976, responsibility for the
coordination of services for these children was
given to the state Title V programs; each child
was to have an Individualized Service Plan or
ISP that described the services needed and how
they would be coordinated. Though the program
covered children only up to the age of 7 years,
it provided important coverage for health care
through Medicaid, a direct connection to services
available through the state Crippled Childrens
Services program and cash payments to defray
other hidden costs of caring for children with disabilities. In 1981, when this program was folded
into the MCH Services Block Grant, coverage
was extended to children up to the age of 16 years
(Farel 1997).
1.3.10PL 94-142, Education

for All Handicapped Children
Act of 1975
Expanding definitions of handicapping conditions in children, greater success at early identification, diagnosis and treatment, efforts to
keep children at home whenever possible, and
recognition by the courts of the rights of handicapped children led to what has been termed a
revolution in educational opportunities for children previously excluded from such opportunities. PL 94-142, the Education for All Handicapped Children Act enacted in 1975 required
states to provide a free and appropriate public
education to all handicapped children between
the ages of 3 and 21 years, without regard to
income or the severity of the condition. Such
education included individualized instruction
designed to meet the childs needs and related

services necessary to enable the child to benefit from the specialized instructional program.
Eligible children included those children who
were mentally retarded, seriously emotionally
disturbed, speech, vision or hearing impaired,
orthopedically impaired, multihandicapped, or
learning disabled. Related services included
school health services, physical therapy, occupational therapy, counseling services, medical services for diagnostic and evaluation purposes, and counseling and training for parents
(Farel 1997; U.S. Department of Health and
Human Services 1981). Each child was to have
an Individualized Education Plan or IEP that
spelled out the particular instructional and related service needs for that child. As was the
case with Head Start the policy provisions linking development and education to health services likely provided access to children who
had not previously enjoyed access to health
care, yet the law did not require coordination
with existing health programs (Ireys and Nelson 1992; Blackman 1994).
PL 94-142 launched several important policy
initiatives. States were to establish child find
systems in order to locate, identify and evaluate every handicapped child in the state; evaluations were to be conducted in a nondiscriminatory manner; parents were given fundamental
due process rights over the evaluation, placement and provision of services for their children;
training was required for personnel involved in
services to this population of children; and, services under the law were to be provided to every
child, whether in public or private schools or facilities. The related services provision was also
noteworthy in that it required states to establish
mechanisms not only for the specialized instructional services required but for those additional
services and supports necessary for children to
benefit from the instruction. This provided an
important impetus for further coordination and
collaboration among education, welfare, Medicaid, and state Crippled Childrens Services programs, each of whom had different roles to play
with regard to children with special health care
needs (Blackman 1994).
D. Petersen
1.3.11Omnibus Budget
Reconciliation Act of 1981
A major policy shift took place in the early years
of the Reagan administration, largely fueled by a
powerful states rights agenda and the desire of
the former governor to limit federal involvement
in state decision making. With Congressional
support, 21 separate federal programs were consolidated into four block grants, one of which was
focused on maternal and child health. The Maternal and Child Health Services Block Grant consolidated the original Maternal and Child Health
and Crippled Childrens Services components
of TitleV with separate grants for Supplemental
Security Income Disabled Childrens Services,
Hemophilia, Sudden Infant Death Syndrome,
Prevention of Lead-Based Paint Poisoning, Genetic Diseases, and Adolescent Health Services
(Oglesby 1988). Federal regulations around this
new collection of programs were minimal, allowing states significant latitude in decision making
based on the states particular needs. In keeping
with this spirit, the overall funds were reduced
20% on the assumption that states would be more
efficient if they did not have to meet cumbersome
federal requirements. One unintended consequence of these two policy directivesone, to reduce federal reporting requirements and the other
to reduce fundingwas the significant reduction
of data and assessment capacity in state programs
and the subsequent diminution of the ability to investigate and report, the very essence of what
had allowed the Childrens Bureau to be so successful in its legislative advocacy. In addition, the
absence of reporting requirements coupled with
the lack of a required state plan led some state
administrators to divert funds away from core
maternal and child health mission areas. Perhaps
as an indirect result, the emphasis of the federal
government and states in the 1980s was on infant mortality and prenatal care for women, both
of which could be monitored through birth and
death records maintained by state offices of vital
statistics and therefore used by advocates to hold
the government accountable. The chronic lack of
population-based data on children with handicapping conditions, however, did not stop advocates
from urging more services, better coordination,

and support for children and their families.
1.3.12Baby Doe
US policy around parental rights was put to the
test during the Reagan administration as a result
of the passage of the Baby Doe amendment to
the Child Abuse Act by Congress in 1984 (Moss
1987). Surgeon General C Everett Koop, a pediatric surgeon, argued before Congress that it was
inappropriate to withhold life-saving treatment
from seriously ill newborns regardless of the parents wishes or beliefs. Several highly publicized
cases of such withholding of treatment fueled the
debate and while parents rights advocates argued
against the legislation, it ultimately passed. The
law amended the definition of child abuse to include the deliberate withholding of fluids, food,
and medically indicated treatment from disabled
infants and required reporting of such abuse (via
telephone hotlines installed in hospitals) and legal
action to stop the abuse if necessary (Moss 1987).
Organized opposition by hospitals, pediatricians
and parents ultimately led to the law being struck
down by the United States Supreme Court but in
the meantime, parents forced to accept treatment
for their seriously ill or handicapped newborns
against their wishes questioned where the state
was as these children grew and needed continued
services and supports? (Alexander et al. 1999)
This tension between the interests of parents and
the interests of the state has been a common element in policy discourse around this population
of children for decades. In addition, the technological advances that allowed seriously ill newborns to survive and the enthusiasm with which
sophisticated medical services were provided
were typically not followed by concomitant interest in the other services and supports families
needed to survive over the lifetime of the child.
Beyond the need for related therapies, families
also found themselves needing home health care,
transportation, home modifications, training, financial assistance, and respite careservices
which were not only not covered by private or
public insurance programs but were often neither
available in the community nor easily accessed

(U.S. Department of Health and Human Services
1981).
1.3.13Medicaid Home and

Community-Based Waivers
Families with children with complex medical
conditions who required hospitalization could,
in some states, have income eligibility for Medicaid waived in order to obtain coverage for extended hospitalizations. However, at the time of
discharge, income guidelines were reapplied and
many families lost coverage. The result was that
children were left in the hospital, institutionalized if you will, because their parents could not
afford to keep them at home. Congress rectified
this situation with amendments to Medicaid in
the early-1980s allowing states to waive income
eligibility for severely ill children if the cost of
home-based services would not exceed those
projected for a long-term care facility. Named
after Katie Beckett, whose mother championed
the need for these reforms, home, and community-based waivers allowed thousands of children
to remain with their families rather than be institutionalized (Nelson 1994).
1.3.14From Crippled Children to

Children with Special Health
Care Needs
An important policy shift occurred in the mid1980s beginning with the change in the name
of the TitleV programs for Crippled Childrens
Services to programs for Children with Special
Health Care needs in recognition of both the
breadth and depth of the population, its characteristics and its needs. Two back-to-back conferences and a report from the U.S. Surgeon General on children with special health care needs
highlighted the importance of families, private
providers and public programs coming together
to comprehensively address the needs of children
with special health care needs, and their families
at the community level. Concern over increas-
10
ing categorization and fragmentation of services

led to the call for a national agenda for familycentered care that was community based, coordinated and culturally competent and that would
encourage greater cooperation and collaboration
between and among various sectors in order to
assure children services necessary for their optimal growth and development in the least restrictive environment (Farel 1997; Hutchins 1997).
The report further emphasized communication
among providers toward more comprehensive
care and greater involvement of families in
health and education programming (Ireys 1988).
In this way, the policy directive shifted importantly from a focus on specific services for a select group of children (those who were crippled
or handicapped) to a broader interpretation of responsibility to develop systems and supports for
an entire population of children who may need
such services at various points in their lives regardless of diagnosis or condition (Nelson 1994).
1.3.15PL 99-457, Reauthorization

of the Education for All
Handicapped Children Act
Encouraged in part by the apparent success of PL
94-142 and an emerging body of evidence around
early brain development, Congress amended the
Education for All Handicapped Children Act in
1986 through PL 99-457 to include incentives
for states to serve all children with handicapping
conditions between the ages of 3 and 5 years
through organized preschool programs, known as
Part B and encouraged states to apply for funds
to develop more extensive early intervention programs with the goal of eventually serving children from birth, known as Part H (Farel 1997). In
1990, consistent with similar changes in related
legislation (e.g., TitleV) the word handicapped
was removed and the act was renamed the Individuals with Disabilities Education Act (IDEA).
The early intervention component for infants and
toddlers was strengthened and by 1995, every
state extended eligibility from birth. States could
choose the lead agency for PartH (typically, education, health, or social services) and were also
D. Petersen
required to establish interagency coordinating

councils with significant involvement of parents.
Each child served through the early intervention
program was to have an Individualized Family
Service Plan, or IFSP, defining clear goals and
services to be provided by the health, education,
and social service sectors. Like in PL 94-142,
parents had clear due process rights and states
were required to create mechanisms to assure
prompt resolution of disputes.
1.3.16Healthy People
In 1979, the U.S. Surgeon General issued the report Healthy People and the first set of health
objectives for the nation, intended to be achieved
by 1990 (U.S. Department of Health and Human
Services 1979, 1980). Healthy People advanced
the notion of health promotion and disease prevention, largely in response to the epidemiologic
shift from a predominantly infectious diseasebased morbidity pattern in the United States to an
increasingly dominant chronic-disease pattern.
Belief that many chronic illnesses were due to
lifestyle factors (i.e., behaviors not conducive to
good health such as smoking, poor diet, lack of
exercise, and excessive use of alcohol and other
substances) led to a new focus on health promotion. This first set of national objectives included
several related to maternal and child health but
none related to the population of children with
special health care needs, not surprising given the
focus on improving the health status of the general population.
Despite the renewed attention to children with
special health care needs during the 1980s, the
national health objectives for the year 2000, issued in 1990, Healthy People 2000 still did not
include any specific objectives for this population (U.S. Department of Health and Human
Services 1990). Healthy People 2000 was substantially more comprehensive than the original Healthy People, expanding from 5 areas of
emphasis to 22 and including new areas around
chronic illness, the prevention of birth defects
and mental health but the focus remained on disease prevention and health promotion, consistent
with its overall intent. Not until Healthy People

2010 would we see a specific statement around
children with special health care needs.
1.3.17Omnibus Budget
Reconciliation Act of 1989
Though children with special health care needs
did not appear as a focal population in the national health objectives crafted in the late-1980s,
they were prominently featured in several important policy directives in 1989. Calls from the
Surgeon General, advocates for children including those with special health care needs and even
states seeking greater controls led Congress to
make significant changes to TitleV in the Omnibus Budget Reconciliation Act of 1989 or
OBRA 89 (U.S. Congress 1989). Noteworthy,
states were now required to conduct comprehensive statewide assessments of need every 5
years and develop clear priorities and plans for
the use of Title V funds; they were required to
allocate at least 30% of the appropriation and
the associated state match to children with special health care needs; and they were required to
focus these funds on developing family-centered,
community-based, coordinated systems of care
for children with special health care needs and
their families. These amendments restored to the
legislative base critical investigate and report
requirements, a focus on children with special
health care needs, and accountability. Congress
also amended Medicaid to require all states to
cover pregnant women and children up to age
of 6 years at 133% of the federal poverty level,
providing an important source of health care financing for young children with special health
care needs during critical periods of development
when early intervention efforts can be most effective. In addition, OBRA 89 required that any
medically necessary service required for treating a condition, identified through an EPSDT
screen had to be provided, even if the service
was not otherwise covered under the state plan
(Farel 1997). To facilitate EPSDT enrollment and
the provision of such services, TitleV programs
were mandated to coordinate with Medicaid,
11
and the Secretary of the Department of Health

and Human Services was directed to develop a
simple application for use by multiple programs
including Medicaid and TitleV, WIC and Head
Start among others (Margolis etal. 1997).
1.3.18Medical Homes
The 1980s also saw the rise of a movement toward medical homes for children. Though first
mentioned in an American Academy of Pediatrics publication in 1967, it was not until Dr. Calvin Sia fully implemented the concept in Hawaii
that the idea took hold (Sia and Peter 1988; Sia
etal. 2004). The medical home model arose out
of the frustration families and providers experienced when attempting to organize comprehensive health and related services for their children.
Children with special health care needs often had
relatively good access to high-quality specialty
care but had difficulty obtaining routine primary and preventive care. Children with multiple
conditions often needed the services of multiple
specialists and assuring relevant communication
among them was a task often left to parents, ill
equipped to translate highly technical information. Add to this the need to further coordinate
among various therapists, school-based services
and other supports such as transportation, translation, and respite care and the fact that many of
these services were arranged or paid for by different programs, or not at all, and the situation for
families often became overwhelming.
Consistent with the historical role of pediatric societies in advocating for needed policy reforms, the American Academy of Pediatrics issued its first public policy statement on medical
homes in 1992. This policy statement suggested
that accessible, continuous, comprehensive,
family-centered, coordinated, compassionate
and culturally effective care must be provided by
a designated physician, further suggesting that
such physicians be reimbursed appropriately for
assuming this important role in the care of children with special health care needs (American
Academy of Pediatrics 1992, 2002). Till date,
the lack of adequate reimbursement continues to
12
challenge physicians willing to provide medical

homes, yet calls for support of medical homes
appear in the policy agendas of advocacy groups
and governmental agency documents. Indeed,
the groundswell of support from the Academy of
Pediatrics, the Association of Maternal and Child
Health Programs, Family Voices and the federal
Maternal and Child Health Bureau likely led to
children with special health care needs finally appearing in the decanal health objectives for the
nation in 2000.
1.3.19Healthy People 2010

In recognition of the potential for comprehensive,
coordinated services to promote optimal growth,
development and health of children and youth
with special health care needs, Healthy People
2010, the third iteration of health objectives for
the nation, for the first time included an explicit
focus on children with special health care needs
2000). Two objectives, 16-22 and 16-23 spoke
directly to this population. 16-22, a developmental objective, seeks an increase in the proportion
of children with special health care needs who
have access to a medical home and 16-23 seeks
to increase the proportion of Territories and
States that have service systems for children with
special health care needs (U.S. Department of
Health and Human Services 2000). A third objective, 6-9, seeks to increase the proportion of
children and youth with disabilities who spend at
least 80% of their time in regular education programs reinforcing the need to link children and
youth with disabilities to appropriate educational
opportunities in order to promote their optimal
development.
1.3.20Transition Services
Improvements in screening, diagnosis, and treatment over several decades dramatically changed
the survival patterns of children with chronic illnesses and disabilities many of whom not only
lived into adolescence but into adulthood. This
D. Petersen
shift has been noted by the inclusion of the word

youth or adolescence in program eligibility
language and has led to expansions in vocational
rehabilitation programs and the development of
transition programs for youth. Adolescents in
general have additional developmental issues,
most prominent of which is the need to pursue
independence, that are just as true for those with
special health care needs as they are for those
youth without such needs. In addition, while an
array of services and supports have been developed over the years for children with special
health care needs in the medical, health, education, and social services arenas, few similar
services have been established for adolescents
and even fewer for adults. Transition programs
designed to promote successful transition from
adolescence to adulthood for this population thus
have the added burden of assuring transition to
adult health care, a transition that is complicated
for adults with complex medical conditions that
are of pediatric origin and for which adult health
care providers have not been trained (Okinow
1994).
In addition to the disconnect between pediatric and adult health care, which is a real problem
for adolescents and young adults with special
health care needs, the lack of continuous health
care coverage is an equally serious concern.
Finding a source of health insurance to cover the
often costly array of specialty care needed is a
challenge and there is virtually no support for
the related services often required, such as various therapies, transportation, mental health, or
home modifications. In addition, the challenge
of finding meaningful employment and the need
for a comprehensive coordinated system of care
for this population becomes acutely apparent
(Okinow 1994).
1.3.21State Childrens Health

Insurance Program, Title XXI
of the Social Security Act
In 1997, following failed attempts at national
health care reform, advocates succeeded in persuading Congress to support an expansion of
health care coverage for children. Designed as a

federal-state partnership, State Childrens Health
Insurance Program (SCHIP) was the largest expansion of publicly funded insurance since the
enactment of Medicare and Medicaid in the 1960s
and was intended to provide coverage for children
from families with incomes too high to allow them
to qualify for Medicaid. Like other similar programs, states were given latitude in determining
eligibility requirements, benefits packages, and
administrative policies within broad federal guidelines and could link the programs to Medicaid or
administer them separately. States were allowed
to include comprehensive care coverage under
SCHIP as a state option, though even with such
coverage, benefit gaps remain for children with
special health care needs covered under SCHIP
programs (Rosenbaum 2008). While SCHIP (now
known simply as Childrens Health Insurance Program or CHIP) increased health insurance coverage for children overall, the benefit package was
less generous than that of most state Medicaid
programs and did not include dental health, mental
health, or enabling transportation coverage, often
essential to children with special health care needs
(Markus et al. 2004). If connected to the states
Medicaid program, a wider array of services were
typically made available and existing agreements
between the state Medicaid program and the state
TitleV program were simply extended to children
now covered under SCHIP. If the program were
administered separately, state Title V programs
had one more agency to deal with in attempting to
secure coverage for basic services needed by children with special health care needs. Regardless of
the extent of eligibility or the generosity of coverage, TitleV programs remained the one source of
flexible funding that allowed for investments in
support of primary and specialty care systems for
children (Markus etal. 2004). This is important in
the policy milieu for children with special health
care needs because even if universal health care
coverage can be achieved in the United States,
there remains a need to build systems, coordinated services, train providers, set standards and
maintain accountability, all activities within the
purview of TitleV, the only legislation directed at
the entire population of children.
13
1.3.22Patient Protection and

Affordable Care Act
After decades of attempts to reform the nations
health care system toward something more accessible, more affordable, and more accountable,
the 111th Congress enacted the Patient Protection
and Affordable Care Act of 2010 (U.S. Congress
2010). This act contains provisions that should
benefit children with special health care needs and
their families including denying coverage for preexisting conditions, removing annual and lifetime
benefit caps, and extending coverage of children
on family policies to the age of 26 years. The Affordable Care Act further requires provision of
preventive services with no cost sharing and very
importantly for children with special health care
needs, requires maintenance of current eligibility criteria and enrollment procedures for Medicaid and CHIP, which remain the major sources of
health insurance coverage for children in the United States. The no wrong door policy is intended
to reduce the administrative burden on families
who often must apply separately to various programs to eventually find the one that works for
them by allowing a single application for multiple
programs which includes the children with special
health care needs screener developed for the National Survey of Children with Special Health Care
Needs. This added feature should more quickly
identify children in need of special services and
promote continuity across funders. The act further creates consumer assistance programs to help
with enrollment, benefits counseling, education
on rights and responsibilities, and help filing complaints and appeals. This feature could also be of
benefit to families struggling to get timely, quality
services for their children (Association of Maternal and Child Health Programs 2010).
What is not yet known is the extent to which
the Affordable Care Act can and will address the
persistent inadequacies in the nations patchwork system for children with special health care
needs: the problems of underinsurance, eligibility cutoffs, insufficient benefits, and the lack of
coordination among complex system elements
(Association of Maternal and Child Health Programs 2010).
14
1.4Policy Themes
Though we owe a huge debt of gratitude to the visionary leaders who forged a pathway for a comprehensive system of services for children with
special health care needs over 75 years ago, we
have not yet realized their vision. The policy development and formulation process is influenced
by various factors, some of which compete and
are subject to debate and compromise. In the case
of children with special health care needs, advancements in science, technology and medical
care, evolving notions of the rights of parents and
the responsibilities of the state and the nature of
public programs designed to address specific issues of concern to policy-makers and the public,
all shape the development and implementation of
policy. Policy has developed for this population in
an often haphazard way, within related but often
disconnected sectors, organized through different
laws administered through different federal agencies, with differing eligibility requirements, benefits and rights, implemented by individual states
with varying degrees of enthusiasm, and with different sometimes competing constituencies. Till
date, we do not have the single authority for a
comprehensive system called for over the years
in numerous scientific, professional and advocacy documents, and instead have to work within
disparate policy frameworks to affect some type
of local service system that supports children and
families. In this section we will examine some
of the factors contributing to this state of affairs,
from the way the population has been defined
and enumerated, to issues of states rights, individual rights and the preponderance of categorical (or vertical) policies versus comprehensive
(or horizontal) policies.
1.4.1Defining the Population

of Children with Special Health
Care Needs
Over the past 100 years, the ways in which this
population has been defined has shaped policy.
Initially concerned with orthopedic conditions
like those associated with polio, and in the wake
D. Petersen
of the growth of childrens hospitals and the development of pediatrics as a subspecialty of medicine, programs were designed to locate and treat
conditions associated with crippling in children,
hence the name Crippled Childrens Services.
States were given monetary incentives to find
more children. Later, advancements in medicine
suggested that children with various diseases
that led to chronic conditions, such as rheumatic
heart fever, should also be treated and the desire
for children to be intellectually stimulated and
educated earlier warranted vision and hearing
screening programs be added. State Crippled
Childrens Services programs typically had lists
of covered conditions, those for which clinical,
hospital and rehabilitative services would be provided and many state established clinics for the
purposes of identifying, screening and diagnosing children in order to render them eligible for
services. The enactment of Medicaid and subsequent EPSDT provisions established another
mechanism for finding eligible children and
providing comprehensive services to meet their
needs. Education policy defined handicapped
children as those who needed assistance to learn
and established a third system to find children
eligible for services.
As the policy landscape became more complex and families were forced to navigate an
ever-complicated labyrinth of programs, children with a greater variety of conditions sought
assistance from state TitleV programs and case
management or care coordination services were
expanded in the array of available supports.
Technological advances that enabled smaller and
earlier babies to survive led to high-risk infant
follow-up programs which further fueled the
idea that not only were there children with obvious conditions that impaired normal growth and
development but that there were also children at
risk for such conditions. The initial notion of at
risk linked to medical conditions at birth eventually grew to include social and environmental
risk, taking into account a growing body of evidence linking adolescent parenthood, inadequate
education, poor housing, and other conditions
associated with poverty to physical and developmental conditions of children.
By 1981, the Select Panel for the Promotion

of Child Health defined chronically impaired
children as those who were chronically ill, physically handicapped, mentally retarded, emotionally disturbed, or multihandicapped, reflecting
the accepted notion that impairments of children
included physical, medical, social, and emotional challenges (U.S. Department of Health and
Human Services 1981). Various experts argued
that definitions based on diagnosable conditions
were too restrictive and that children should be
defined by their functional abilities or limitations
regardless of diagnosis (Stein and Jessop 1982;
Perrin etal. 1993). Today, the definition of children with special health care needs promulgated
by the federal Maternal and Child Health Bureau
is very broad: those who have or are at increased
risk for a chronic physical, developmental, behavioral, or emotional condition and who also
require health and related services of a type or
amount beyond that required by children generally (McPherson etal. 1998, p.138).
1.4.2The Epidemiology of Children

and the National Survey
Varying with the definition in favor at any given
moment have been the enumerations of the population of children with special health care needs.
The literature suggests that from less than 2%
(Palfrey et al. 1994) to more than 30% (Newacheck and Taylor 1992) of the population can
be so identified depending on the definition
used. States, the federal government and advocacy groups found it challenging to champion the
needs of the population without an agreed upon
definition or reliable data on the nature and scope
of the population. The lack of an overall comprehensive picture of the population of children with
or at risk of handicapping conditions may have
contributed to the continued categorical approach
of advocates and agencies alike. In 1998, the federal Maternal and Child Health Bureau rectified
this situation in a dramatic way by launching the
National Survey of Children with Special Health
Care Needs (van Dyck etal. 2002). The random
15
digit dial household survey uses a screener to

determine if there are children in the home that
meet the inclusion criteria and samples 750850
families per state: the screener asks parents to
report if they have one or more children in the
home with a health problem expected to last at
least 12 months and requiring prescription medications, more services than most children, special therapies, and limiting the childs ability to
do most things children can do.
The survey was first completed in 2001, again
in 20052006 and again in 20092010 and has
generated a wealth of information on the prevalence of chronic conditions among the nations
children and on how families negotiate and utilize complex service systems. Interview questions cover such areas as the extent to which children with special health care needs have medical
homes, adequate health insurance, and access to
needed services. Other topics include functional
difficulties, care coordination, satisfaction with
care, and transition services. Prevalence estimates are generated for the nation as a whole
and for each state; the 20052006 survey indicated that 13.9% of children in the United States
have a special health care need and that 21.8% of
households with children have at least one child
with a special health care need (U.S. Department
of Health and Human Services 2008). Having a
regular and robust source of data on the population of children with special health care needs has
been extremely helpful in developing state and
national plans, coordinating across agencies and
sectors, and advocating for needed services in
health and education reform policy debates.
1.4.3States Rights and the Rights

of Individuals
Since the founding of our union, issues of states
rights have arisen in every national social policy
discussion. The U.S. Constitution does not give
the executive or legislative branches of government the power to regulate public health; that authority is left principally to the states (Teitelbaum
and Wilensky 2007). Given this, what is the appropriate role of the federal government in ensur-
16
ing basic rights, services or standards given the

preeminence of states in most of these matters?
The federal government can and does provide
incentives for states to carry out policy it deems
important. However, states retain the ability to
pick and choose what and how they implement
in the health, education and social services policy
arenas. As such, children with special health care
needs and their families will find it relatively
easier or more difficult to secure the services
they need to function optimally simply depending on the state they reside in. The 1981 report
of the Select Panel for the Promotion of Child
Health (U.S. Department of Health and Human
Services 1981) noted striking inequities in the
services provided to handicapped children across
states. Covered services tended to follow historical patterns with every state covering orthopedic
or plastic surgery but few covering otitis media
treatment despite the benefit to childrens educational achievement and development (U.S. Department of Health and Human Services 1981).
In addition, the report noted inequities in eligibility for the various programs depended on by children with special health care needs. Even with
expansions in Medicaid eligibility and the rules
governing EPSDT, some states linked Title V
eligibility to Medicaid while others included a
broader array of children. Even with generous
eligibility and extensive covered services, the
availability of providers varies enormously as do
attitudes around interagency cooperation or the
sharing of information. Despite repeated calls for
a central federal authority for services for children with special health care needs, such a policy
has yet to be enacted in the United States, likely
due to states rights concerns. These same issues
have arisen in response to the Affordable Care
Act of 2010. Several states have sued on constitutional grounds arguing that the law oversteps
federal authority in matters constitutionally left
to the states. In a similar vein, individual rights
activists have argued against the Affordable Care
Act provisions mandating individual coverage.
Relatedly, these policy debates raise the issue
of whether Americans view health care as a right
and if so, how far they will go to enable everyone to exercise that rightmandating health care
D. Petersen
coverage and requiring states to regulate insurance markets and cover community-based preventive services are necessary to ensure benefits
to all. Mandating coverage as has already been
stated infringes on the rights of individuals, an
equally powerful policy thread in American history. Where children with special health care
needs are considered, the collision between right
to life arguments (carried to their logical conclusion with the Baby Doe Amendments of 1984)
and the right to health care for those kept alive
becomes glaringly apparent. This is an interesting contradiction between what some may see
as the rights of individuals to choose life and the
same rights of those individuals to reject publicly
organized and financed health care. We have yet
to resolve this seeming contradiction through
there are those who argue that too much is given
to vulnerable populations creating dependency
that is not productive for the individuals involved
nor society as a whole.
1.4.4Categorical (Vertical) Programs

Versus Comprehensive
(Horizontal) Programs
It is abundantly evident that the way the U.S.
Congress is organized, the way lawmakers are
elected and the way the U.S. Constitution gives
responsibilities to states promotes a tendency to
favor narrowly crafted legislation around a single
issue or constituency group over comprehensive
approaches to addressing broad societal issues. In
this review of policy developed for children with
special health care needs which is by no means
exhaustive, we see policies in health care financing, public education, early intervention, disability rights, case management, home-based care,
income maintenance, and specialized health care
delivery. With few exceptions these policies are
categorical in nature, addressing a single issue or
single focus with specific eligibility criteria and
benefits and no required coordination with other
related programs. This pattern of policy development creates opportunities for children and youth
with special health care needs to be sure, but it
also creates a virtual nightmare for parents who
must negotiate an overly complex labyrinth of

programs to locate and access needed services
and supports, only to discover at the end of the
search that there is no program to provide what
is actually needed by the family. A personal anecdote may be illustrative: as the director of a
states program for children with special health
care needs, I was presented with a case of a child
with Prader-Willi syndrome who lived with his
family at the intersection of two state highways
in a small rural town. The parents had been worn
ragged in their efforts to keep their son from
running into the road and being hit by a car or
tractor-trailer. The family had adequate health
insurance; they had a solid team of primary and
specialty care providers; they had an IEP that included special transportation to and from school;
they had an excellent case manager; they even
had access to respite care. What they needed was
a fence. Drawing upon the statutory provisions of
TitleV and our own state law which required me
to provide services and supports necessary to assure the optimal growth and development of children with handicapping conditions, I persuaded
our budget officer to approve the purchase of
fencing material. (The excellent case manager
can already negotiate free labor from a local
fencing contractor.) While this story has a happy
ending, it took too many years, too many phone
calls, and too many frantic moments for this family to secure the relief they needed.
The passage of the Social Security Act in 1935
created a focus within each state on the population of what were then called crippled children
and for 30 years, state Crippled Childrens Services programs were the sole source of efforts to
organize, deliver, and fund services for children
with crippling conditions. Over time, the conditions recognized by these programs evolved with
advances in science and greater sophistication in
diagnosis, treatment, and rehabilitation but in the
context of tension between the federal and state
governments, states were given a fair amount of
latitude to determine eligibility for services and
the nature of services to be provided. In the 1960s
and 1970s, a series of policy actions were taken
that provided opportunities but also complicated
the landscape for children with special health
17
care needs. Medicaid provided a source of financing, but to a limited population for a narrow
set of medical services; education policies mandated a free and appropriate education in the least
restrictive environment for all handicapped children and also mandated provision of related services that would enable children to benefit from
the individualized instruction required, most of
which were health services. EPSDT amendments
to Medicaid legislation directed that eligible
children be found, screened and treated for any
diagnosis eligible in the state plan. These policies, while clearly of major importance for children with special health care needs were silent
on the need to coordinate among them, named
no central overriding authority, strained state
budgets and created a complex set of categorical
programs that were difficult for families to understand and navigate. State TitleV programs, as
the historic champion for children with special
health care needs, were further challenged to find
ways to coordinate this complex array of services
for children. Where TitleV Crippled Childrens
Services programs were originally intended to
promote, improve and deliver services, these programs found themselves increasingly serving as
mediators between agencies with new responsibilities (often categorical), as translators between
programs and providers, as referral agents and
case managers for families, and as the program of
last resort, plugging holes in the evolving, fragile
system of care. The lack of a single authority with
responsibility for creating a comprehensive horizontal program approach to meeting the needs of
children in a holistic manner, has contributed to
the fragmentation that exists across the array of
vertical, single-focused programs, each of which
results in a separate bureaucracy, constituency
and funding stream with specific eligibility, and
program service components.
To illustrate this problem again from the familys perspective, a child could be receiving health
insurance coverage through the states Medicaid
program and case management and related services from the state TitleV program, as intended
by statutory language in both laws. The child
may have received diagnostic services from the
TitleV program and should have some type of in-
18
dividualized care plan developed with the parents

and the case manager. If the child is of preschool
age, there is also an IFSP intended to cover all the
health and related services, education, and social
services needed by the developing child and family. This IFSP is prepared with full involvement
of the family and all involved agencies and ideally includes the primary care provider, though
the participation of the pediatrician is challenging due to the lack of reimbursement for the
medical home part of the care provided. If the
child is receiving Supplemental Security Income,
which may be providing the link to Medicaid
eligibility, the child also has an ISP as required
by federal law, also involving TitleV. Once the
child reaches school age, the IFSP becomes an
IEP which is still intended to cover education and
related services but does not likely cover social
service needs or family needs. In this all too common scenario, families are forced to interact with
multiple agencies, comply with multiple administrative requirements and may still not receive
all the services and supports necessary. As a case
in point, despite repeated calls, families still report a lack of access to needed mental health
services, dental care, transportation, respite care,
and home modifications.
Many children with special health care needs
live in families with private insurance and incomes that render them ineligible for many of the
public programs described here. These families
still face similar challenges, however, because
private insurance typically does not cover all
services necessary to meet the childs needs. The
recent national survey of children with special
health care needs revealed that privately insured
children were more likely to be underinsured
than those with public coverage (Kogan et al.
2010). According to 12.7% of families surveyed,
private insurance did not offer benefits or cover
services needed by their children and 9.3% reported that their insurance carrier did not allow
the child to see needed providers. An earlier
investigation noted that behavioral health, durable medical equipment, and ancillary therapies
(physical, occupational, and speech) were the
least available through private insurance coverage either because they were not covered services
D. Petersen
or because other exclusions would prevent children from receiving services even if they were
covered under the policy (i.e., service needed to
attain not restore function, or the condition was
developmental and not due to an illness or injury;
Fox etal. 2002).
The Patient Protection and Affordable Care
Act of 2010 includes some important provisions
that could ameliorate many of these challenges
and create not only more functional systems of
care but more efficient ones. Decades of health
reform debates have either ignored the issues
of children with special health care needs or assumed that provisions for children in general
would cover this population as well. Regardless
of whether the focus is all children or those with
special health care needs, health reform policy
proposals have struggled to meet the demands of
providing affordable health care coverage to the
entire population while also ensuring the depth of
benefits necessary to provide comprehensive services to improve health. Even if these two policy
imperatives could be met, the equally compelling need to assure that services are organized in
a functional system that works for children and
families is rarely part of the policy compromise
(Halfon and Hochstein 1997).
That families need health insurance for their
children to avoid catastrophic medical bills and
possible bankruptcy is obvious and the necessary
part of the quality health care access issue, but it
is not sufficient. Health and related services need
to be organized and financed in ways that reduce
burdens on families and on providers seeking to
provide optimal care for the best outcomes. Debates around national and even state-level health
reform strategies have not always recognized that
the complex needs of vulnerable children require
particular attention and that such attention can reveal important facts about the system as a whole.
The myriad policy directives that have evolved
over the past century speak to the challenges of
meeting the humanitarian desire to provide assistance to children with special health care needs
and their families within the constraints of various ideologies. Recent discussions preceding and
subsequent to passage of the Affordable Care Act
have centered on many of these issues: states
rights, individual rights to autonomy and medical

practice, independence against protection from
financial loss, promotion of health, and quality of life for individuals and communities. The
role of public sector programs like those created
through policy actions to serve specific needs of
vulnerable children are also being questioned;
within the promise of comprehensive health care
extended to everyone, will there still be a need
for programs that provide service enhancements,
enabling services, family support or care coordination? Many advocates for children with special
health care needs still believe such efforts will be
necessary to realize the benefits of health care
coverage.
1.5Future Avenues for Policy

Development for Children with
Special Health Care Needs
Thirty years ago, the Select Panel on Better
Health for our Children called for high-level
system leadership to assure comprehensive
collaboration between families and community teams of professionals, providing needed
services, coordinated and fully communicated
across and among system components (U.S. Department of Health and Human Services 1981).
The Select Panel also observed that this would
be difficult to achieve if not guided by a single
overriding authority. As has been discussed
here, they noted the emergence of myriad programs from within the health, education and
child welfare sectors with conflicting or overlapping purposes, persistent gaps in coverage
(dental care, mental health, nutritional support,
transportation costs, loss of work for parents,
etc.), disconnected to other elements of the system, and lacking leadership.
Dr. Henry Ireys writing in the journal Pediatrics after the passage of OBRA 1989 noted that
children with special health care needs programs
have the potential to create true systems of care
but only if they develop effective working relationships between their agencies and a broad
range of groups including community-based pediatricians, parent led advocacy groups, tertiary
19
care centers and related public programs (Ireys

and Nelson 1992, p.321). He further goes on to
suggest that, as was the case in 1935, state TitleV
programs today are the only available agent for
organizing a coherent system of care for children
with special health care needs and their families
(Ireys and Nelson 1992, p. 326). Even with the
passage of the Affordable Care Act of 2010 (and
amid hopes that it will survive the various state,
interest group and partisan challenges to it and
be implemented as designed), the words of Dr.
Debra Klein Walker penned over 15 years ago are
still true: children with special health care needs
and their families continue to face conflicting
and inadequate financing structures, inconsistent
legal mandates in education and health, bureaucratic and organizational barriers at all levels of
government, inadequacies in personnel recruitment and training, and minimal public commitment (Walker 1994, pp.752753).
The need for continued policy action on behalf of children and youth with special health
care needs and their families remains critically
important, particularly in times of economic distress, and social change on a grand scale such as
we are witnessing at the beginning of the second
decade of the twenty-first century. We can look
for guidance back to the 1987 Surgeon Generals
report on Children with Special Health Care
Needs in which then Surgeon General C. Everett Koop stated: I am asking families to actively
participate in caring for their children and to help
shape health care policy and programs; states to
implement systems of care which support the
strengths and needs of families, to assure the
input of families at all levels of care, and to assure the adequate preparation of professionals for
new collaborative roles; private health care providers to develop systems which meet the needs
of families and which encourage their independence, by forging strong linkages between primary, secondary and tertiary levels of care, and; the
health care financing sector to assure that all children with special health care needs have access to
quality health care, and that support services are
adequately funded to enable families to care for
their children in their own homes and communities (Koop 1987).
20
Though now nearly 25 years old, this call for

a comprehensive, well-functioning and efficient
system has not yet been realized. Perhaps it is because the system still lacks a single overriding
federal authority with the ability to arrange services and supports based on the expressed needs
of the population. Given persistent concerns over
states rights, absent a central federal authority,
related policies should at least point to one another and states should be required through some
central organizing authority to create comprehensive, coordinated, efficient, and accountable
systems of care.
Pediatrician, social reformer, and parent advocates have long argued that if systems were designed for children and youth with special health
care needs first, they would work for all children.
Instead, decades of attempts to assure coverage
for all children continue to fall short for those
children who need more than routine care. Children and youth come in and out of systems for
those with special health care needs, developmental delays, learning disabilities and, increasingly,
neurodevelopmental disorders such as autism,
and autism spectrum disorders. Whatever systems
emerge, they must be nimble enough to respond
to these and other challenges, both those related
to the population being served and those related to
the providers who serve them. Policy makers and
advocates still have much work to do to realize the
vision of those early visionary leaders while addressing the challenges that we are facing today.
References
Administration of Children and Families, U.S. Department of Health and Human Services Office of Public
Affairs Fact Sheet, Head Start Bureau. (2010). http://
www.acf.hhs.gov/programs/ohs/index.html. Accessed
28 Dec 2010.
Alexander, G. R., Petersen, D. J., & Allen, M. E. (1999).
Life on the edge: preterm births at the limit of viabilitycommitted to their survival, are we equally committed to their prevention and long-term care? The
Medicolegal Ob/Gyn Newsletter, 8(4), 1, 1821 (West
Virginia: American Society of Forensic Obstetricians
and Gynecologists).
Alexander, G. R., Petersen, D. J., Pass, M. A., Slay, M.,
Chadwick, C., & Shumpert, N. (2002). Maternal and
child health/public health milestones, history and
D. Petersen
philosophy and the MCH timeline. Birmingham: The
MCH Leadership Skills Training Institute, Department of Maternal and Child Health, University of Alabama at Birmingham. www.mchb.hrsa.gov/timeline/.
Accessed 13 Dec 2010.
American Academy of Pediatrics, Ad Hoc Task Force on
Definition of the Medical Home. (1992). The medical
home. Pediatrics, 90(5), 774.
American Academy of Pediatrics Policy Statement, Medical Home Initiatives for Children with special health
care Needs Project Advisory Committee. (2002). The
medical home. Pediatrics, 110(1), 184186.
American College of Medical Genetics commissioned
by the U.S. Department of Health and Human Services, Health Resources and Services Administration. (2006). Newborn screening: Towards a uniform
screening panel and system. Genetics Medical, 8(5
Suppl), S12S252.
Association of Maternal and Child Health Programs Fact
Sheet. (2010). Health care reform. Whats in it for
children with special health care needs. www.amchp.
org. Accessed 14 Dec 2010.
Blackman, J. A. (1994). Screening and early identification. In H. M. Wallace, R. P. Nelson, & P. J. Sweeney
(Eds), Maternal and child health practices (4th ed.).
Oakland: Third Party Publishing.
Brosco, J. P. (2010). Locating the future in the past: A
history of maternal and child health programs in the
US. Washington: Maternal and Child Health Bureau.
Farel, A. M. (1997). Children with special health care
needs. In J. Kotch (Ed.), Maternal and child health:
Programs, problems and policy in public health.
Gaithersburg: Aspen.
Fox, H. B., McManus, M. A., & Reichmann, M. B. (2002).
The strengths and weaknesses of private health insurance coverage for children with special health care
needs. Washington: MCH policy research center.
www.mchpolicy.org. Accessed 23 Dec 2010.
Halfon, N., & Hochstein, M. (1997). Developing a system
of care for all: what the needs of vulnerable children
tell us. In R. K. Stein (Ed.), Health care for children:
Whats right, whats wrong, whats next. New York:
United Hospital Fund of New York.
Hitchcock, L. I., & Mulvihill, B. (2010). The early years
of Title V: Extending and improving care for children
with special health care needs 19351941. Maternal
and Child Health Journal, 15, 139147.
Hutchins, V. L. (1997). A history of child health and pediatrics in the United States. In R. K. Stein (Ed.), Health
care for children: Whats right, whats wrong, whats
next. New York: United Hospital Fund of New York.
Ireys, H. T. (1988). Description of the population (of children with special health care needs). In H. M. Wallace,
G. M. Ryan, & A. C. Oglesby (Eds.), Maternal and
child health practices (3rd ed.). Oakland: Third Party
Publishing.
Ireys, H. T., & Nelson, R. P. (1992). New federal policy
for children with special health care needs: Implications for pediatricians. Pediatrics, 90, 321327.
Kogan, M. D., Newacheck, P. W., Blumberg, S. J., Ghandour, R. M., Singh, G. K., Strickland, B. B., & van
Dyck, P. C. (2010). Underinsurance among children in
the United States. New England Journal of Medicine,
363(9), 841851.
Koop, C. E. (1987). Surgeon generals report on children with special health care needs. U.S. Department
of Health and Human Services (HRS/D/MC 872).
Washington: U.S. Government Printing Office.
Lesser, A. J. (1985). The origin and development of maternal and child health programs in the United States.
American Journal of Public Health, 75(6), 590598.
Magee, E. M., & Pratt, M. W. (1985). 19351985: 50
years of US federal support to promote the health of
mothers, children and handicapped children in America. Vienna: Information Sciences Research Institute.
Margolis, L. H., Cole, G. P., & Kotch, J. B. (1997). Historical foundations of maternal and child health. In J.
Kotch (Ed.), Maternal and child health: Programs,
problems and policy in public health. Gaithersburg:
Aspen.
Markus, A. S., Rosenbaum, S., & Cyprien, S. (2004).
SCHIP-enrolled children with special health care
needs: an assessment of coordination efforts between
state SCHIP and Title V programs. Washington: Kaiser Commission on Medicaid and the Uninsured, Kaiser Family Foundation.
McPherson, M., Arango, P., Fox, H., Lauver, C., McManus, M., Newacheck, P., Perrin, J., Shonkoff, J., &
Strickland, B. (1998). A new definition of children
with special health care needs. Pediatrics, 102(1),
137140.
Merriam-Webster. (2010). www.Merriam-Webster.com.
Miller, C. A. (1988). Development of MCH service and
policy in the United States. In H. M. Wallace, G. M.
Ryan, & A. C. Oglesby (Eds.), Maternal and child
health practices (3rd ed.). Oakland: Third Party
Publishing.
Moss, K. (1987). The Baby Doe legislation: Its rise and
fall. Policy Studies Journal, 15(4), 629651.
Nelson, R. P. (1994). The legislative base of programs for
children with special health care needs. In H. M. Wallace, R. P. Nelson, & P. J. Sweeney (Eds.), Maternal
and child health practices (4th ed.). Oakland: Third
Party Publishing.
Newacheck, P., & Taylor, W. (1992). Prevalence and
impact of childhood chronic conditions. American
Journal of Public Health, 82, 364371.
Oglesby, A. C. (1988). Systems for care for children
with special health care needs. In H. M. Wallace,
G. M. Ryan, & A. C. Oglesby (Eds.), Maternal and
child health practices (3rd ed.). Oakland: Third Party
Publishing.
Okinow, N. A. (1994). Transition of youth with special
health care needs. In H. M. Wallace, R. P. Nelson, &
P. J. Sweeney (Eds.), Maternal and child health practices (4th ed.). Oakland: Third Party Publishing.
Palfrey J. S., Haynie, M., Porter, S., Fenton, T., Cooperman-Vincent, P., Shaw, D., Johnson, B., Bierle, T., &
21
Walker, D. K. (1994). Prevalence of medical technology assistance among children in Massachusetts

in 1987 and 1990. Public Health Reports, 109(2),
226233.
Perrin, E. C., Newacheck, P., Pless, I. B., Drotar, D.,
Gortmaker, S. L., Leventhal, J., Perrin, J. M., Stein,
R. E., Walker, D. K., & Weitzman, M. (1993). Issues
involved in the definition and classification of chronic
health conditions. Pediatrics, 91(4), 787793.
Rosenbaum, S. (2008). CMS medicaid regulations: Implications for children with special health care needs.
Washington: George Washington University, School
of Public Health and Health Care Services.
Saunders, S. E. (1988). Medicaid and maternal and child
health, and programs for children with special health
care needs. In H. M. Wallace, G. M. Ryan, & A. C.
Oglesby (Eds.), Maternal and child health practices
(3rd ed.). Oakland: Third Party Publishing.
Schmidt, W. M., & Wallace, H. M. (1994). The development of health services for mothers and children in the
United States. In H. M. Wallace, R. P. Nelson, & P. J.
Sweeney (Eds.), Maternal and child health practices
(4th ed.). Oakland: Third Party Publishing.
Sheps, M. P., & Alexander, G. R. (2001). Landmark federal MCH legislation. Deltaomega classics series.
www.deltaomega.com. Accessed 21 Jan 2011.
Sia, C. J., & Peter, M. I. (1988). The medical home comes
of age. Hawaii Medical Journal, 47(9), 409410.
Sia, C. Tonniges, T. F., Osterhus, E., & Taba, S. (2004).
History of the medical home concept. Pediatrics,
113(5 Suppl), 14731478.
Stein, R., & Jessop, D. (1982). A non-categorical approach
to chronic childhood illness. Public Health Reports,
97, 354362.
Stubbs, P. (1994). The head start program. In H. M. Wallace, R. P. Nelson, & P. J. Sweeney (Eds.), Maternal
and child health practices (4th ed.). Oakland: Third
Party Publishing.
Takanishi, R. (1978). Childhood as a social issue: historical roots of contemporary child advocacy movements.
Journal of Social Issues, 34, 828.
Teitelbaum, J. B., & Wilensky, S. E. (2007). Essentials
of health policy and law. Sudbury: Jones and Bartlett.
U.S. Congress. (1912). The Childrens Bureau Act PL
92-116.
U.S. Congress. (1921). The Maternal and Infancy (Sheppard-Towner) Act PL 67-97.
U.S. Congress. (1935). The Social Security Act PL
74-271, Title V Grants to States for Maternal and
Child Welfare, Part 1Maternal and Child Health
Services, Part 2Crippled Childrens Services.
U.S. Congress. (1981). Omnibus Budget Reconciliation
Act of 1981 PL 97-35, Maternal and Child Health Services Block Grant.
U.S. Congress. (1989). Omnibus Budget Reconciliation
Act of 1989 PL 101-239, Maternal and Child Health
Block Grant Program.
U.S. Congress. (2010). Patient Protection and Affordable
Health Care Act, Public Law 111-148. http://thomas.
loc.gov/cgi-.
22
U.S. Department of Health and Human Services. (1990).
Healthy people 2000: National health promotion and
disease prevention objectives. DHHS (PHS) Publication (No.91-50212).
Healthy people 2010: Understanding and improving
health (2nd ed.). Washington: U.S. Government Printing Office.
U.S. Department of Health and Human Services, Health
Resources and Services Administration, Maternal and
Child Health Bureau. (2008). The national survey of
children with special health care needs chartbook
20052006. Rockville: U.S. Department of Health and
Human Services.
U.S. Department of Health and Human Services, Public
Health Service. (1979). Healthy people: The surgeon
generals report on health promotion and disease
prevention. Washington: U.S. Government Printing
Office.
U.S. Department of Health and Human Services, Public
Health Service. (1980). Promoting health/preventing
disease: Objectives for the nation. Washington: U.S.
Government Printing Office.
D. Petersen
U.S. Department of Health and Human Services, The
Select Panel for the Promotion of Child Health.
(1981). Better health for our children: A national
strategy. Washington: DHHS (PHS) Publication
(No.79-55071).
U.S. Statutes 62 Congress 2 Sess. (19111912) Pt 1
(Chap.73, pp.7980).
van Dyck, P. C., McPherson, M., Strickland, B. B., Nesseler, K., Blumberg, S. J., Cynamon, M. L., & Newacheck, P. W. (2002). The national survey of children
with special health care needs. Ambulatory Pediatrics,
2, 2937.
Wald, L. (1971). The house on Henry Street. In R. H.
J. Bremner (Ed.), Children and youth in America, a
documentary history (Vol. II). Cambridge: Harvard
University Press.
Walker, D. K. (1994). Children with special health care
needs in schools. In H. M. Wallace, R. P. Nelson, &
P. J. Sweeney (Eds.), Maternal and child health practices (4th ed.). Oakland: Third Party Publishing.
Witte, E. E. (1963). The development of the Social Security Act. Madison: University of Wisconsin Press.
Severe Communication Disorders
Carol A. Page and Patricia D. Quattlebaum
Abstract
Communicating confidently is the cornerstone of a positive self-image, and

we recognize that severe communication disorder is an example of a phrase
that will be interpreted differently in different contexts. Our intent in this
chapter is not to diminish the impact of less debilitating communication disorders, but our focus will be on the small but significant minority of children
who have such severe difficulties that they either cannot communicate via
speech or are at risk to have significant limitations in this area. This area of
practice is known as augmentative and alternative communication (AAC).
For children with severe communication difficulties, AAC is a powerful
outlet for celebrating the fundamental human connection that all children
need to thrive. Healthcare providers are in a unique position to help identify
and support children with severe communication disorders, and this begins
with helping caregivers access AAC services for these children. Research
has consistently shown that the use of AAC strategies does not interfere
with the development of speech. Further, when the childs caregivers use
AAC strategies to support language development, the outcomes improve.
Abbreviations
AAC Augmentative and Alternative Communication

AJSLP American Journal of Speech-Language Pathology
ASHA American Speech-Language Hearing Association
IDEA Individuals with Disabilities Education Act
JSLHR Journal of Speech, Language, and Hearing Research
C. A. Page ()
Center for Disability Resources, Department of Pediatrics,
University of South Carolina School of Medicine,
8301 Farrow Road, Columbia, SC 29203, USA
e-mail: carolpageslp@gmail.com
P. D. Quattlebaum
Center for Disability Resources, Pediatric School
of Psychology, 3612 Landmark Drive, Suite A,
Columbia, SC 29204, USA
e-mail: quattlep@yahoo.com
23
24
C. A. Page and P. D. Quattlebaum
PLPublic Law
SLPSpeech-Language Pathologist
2.1Introduction
The traditional articulation therapy may be the
first image that comes to mind when the field
of speech-language pathology is mentioned, and
this role is important. While misarticulation of r
or s sounds might not seem to represent a serious problem, this can negatively affect a childs
self-esteem and thereby limit his potential in life.
Communicating confidently is a cornerstone of a
positive self-image, and we recognize that severe
communication disorder is an example of a phrase
that will be interpreted differently in different
contexts. In the field of speech-language pathology, severity ratings are based upon clinical judgment rather than an absolute numeric standard or
severity rating scale such as those used in ranking
the level of intellectual disability. Our intent in
this chapter is not to diminish the impact of less
debilitating communication disorders, but our
focus will be on the small but significant minority
of children who have such severe difficulties that
they either cannot communicate via speech or are
at risk to have significant limitations in this area.
This area of practice is known as augmentative
and alternative communication (AAC).
Severe communication disorders may result
from acquired injuries and illness or from developmental conditions. Whether acquired or
congenital, the language, phonology/articulation,
and voice disorders can each or in combination
limit communication to such a degree that AAC
is needed. For example, a child might have such
severe dysarthria (oral muscle weakness) resulting from a head injury or treatment for cancer
that both articulation and voice are profoundly
impaired. AAC may be needed for this child
throughout his or her life span. In contrast, the
child who has apraxia (oral motor planning problems) associated with autism, may be unintelligible and require AAC for several years. Both of
these children will have traditional articulation
therapy as a component of their intervention plan,
and they must also be supported by strategies that
address the broader picture of communication.
Except in cases involving a short-term medical

intervention (as in a tracheostomy tube), the exact
course of speech development and AAC intervention will be unique to the child. Some children will
use AAC for a relatively short time, and for others
AAC will be the primary mode of communication
into adulthood. While the course is uncertain, the
consequences of inadequate communication skill
intervention are more predictable. Children who
are not supported in communication development
may misbehave, become depressed and/or socially isolated (Light etal. 2003).
The foundation of AAC rests upon the conviction that all individuals can and do communicate
(National Joint Commission for the Communication Needs of Persons with Severe Disabilities 1992). Further, successful communication
interventions for children are the responsibility of every communication partner, not just the
speech-language pathologist (SLP). The reader
of this chapter will gain an understanding of:
The definition and scope of AAC
The population of children who benefits from
AAC
The difference between AAC and other learning, symbol, and picture tasks
The components of successful AAC assessments
The components of successful AAC interventions
2.1.1What is AAC?
The American Speech-Language-Hearing Association (ASHA) has defined AAC as follows:
AAC involves attempts to study and when necessary compensate for, temporarily or permanently, the impairments, activity limitations, and participation restrictions of individuals with severe
disorders of speech-language production and/or
comprehension. These may include spoken and
written modes of communication (ASHA 2005).
Whether through speech, behaviors, gestures,
writing, etc., the human communication is a
uniquely complex and dynamic activity. The crucial link is a shared symbol system that allows
both partners to construct messages and jointly
interpret meaning (Fig.2.1).
25
2 Severe Communication Disorders

Sender:
Receiver:
Shared Meaning
Expressive
Receptive
Fig. 2.1 Essential elements for human communication.

This figure illustrates the three basic components of
human communication
Typical or normal communicators have a

large repertoire of communication options (e.g.,
facial expressions, body posture, gestures, eye
gaze, vocalizations, speech, writing, computers, telephones, etc). Individuals who have severe communication difficulties will also require
combinations of communication modalities to
promote functional and effective communication
in all environments. Therefore, best practice in
AAC includes developing a multimodal communication system. A child could be taught to use
signs, picture symbols and a voice output device
to communicate in various contexts. AAC devices are more available now than ever before.
Mainstream technology has streamlined the process of acquiring touch screen tablets and handheld devices with AAC software or apps. This is
an exciting development, but these are not for
everyone with a severe communication disorder
(Gosnell etal. 2011).
Sometimes family members question the need
for AAC because they feel that they know what
their loved ones need even with minimal communicative interaction. For example, children who
have supportive caregivers may be able to communicate adequately using basic strategies such as
reaching and utilizing facial expressions because
family members often report that they know what
their loved ones need even with minimal communicative interaction. Individuals outside the family typically have much more trouble interpreting
idiosyncratic signals. When unfamiliar communication partners encounter a child who cannot
communicate using traditional symbol systems,
they may not understand the message. AAC is the
bridge that enables children with severe communication difficulties to learn higher-level language
skills and to interact with individuals outside the
family. AAC should be viewed as an essential
component of intervention programs that provide
a foundation to support the learning, communica-
tion, social and emotional development of children, and strengthen their relationships with family members and others in the community.
2.1.2Language Development
Spoken language is the natural course of development for most children. In those who do not
develop speech, a brain difference or disorder
usually exists. Paul (2007, p.11) summarized the
research on brain structure and function related
to developmental language impairments: It is
important to realize that no one pattern of brain
architecture has been consistently shown in all
individuals with language impairment. Instead,
these structural differences appear to act as risk
factors for language difficulty. Conversely, a
child with an acquired speech and language impairment will have the area of damage identified
by various imaging tests.
Communication intervention takes a somewhat different form when children are not speaking, but the typical course of spoken language
development provides the starting point as AAC
planning begins. There are a number of language
development models. Some focus more on the
childs innate language capability. The fact that
children around the world follow a similar sequence of cooing, to babbling to speech supports
these theories. Other theories focus more on the
need for interaction with communication partners
as the springboard for language development.
An appreciation of the contributions of each of
these models has gained wide acceptance (Nelson
2010). The following example (Table2.1) shows
the parallels between spoken language development and language development that are supported with AAC. This comparison illustrates that just
as language development evolves rapidly when
typical children are young, the AAC interventions
evolve and change as childrens needs change.
2.1.3The Impact of AAC on Speech

Production
The use of AAC is not new to the twentyfirst century. Helen Keller was one of the first and most
26
Table 2.1 Spoken language development versus supporting language development using AAC
Language Learning
Attribute
Timing
Spoken Language (Typical Development) AAC Correlate

From birth, vocalizations are interpreted
as communication
From birth, vocalizations are interpreted as

communication. Whenever the child is at
risk for significant communication difficulties, AAC is considered
Earliest interactions
Presymbolic communication is valued
Presymbolic communication is valued and
and supported
supported
Example: Parents respond to babbling as Example: Looking toward an object by
if the child is saying words. This focused chance is interpreted as communication.
This focused reinforcement teaches the
reinforcement of word-like utterances
child how to use eye gaze as communicagives rise to true words
tion of a word
Utterance length
Language evolves from single words to
Symbols are sequenced to produce phrases
phrases and then sentences
and sentences. Adults model the use of
AAC strategies
Scope of communication Children cry, point, vocalize, use words, Children are encouraged to use a variety of
modalities so that they can communicate in
possibilities
etc. to communicate. As they get older,
many contexts. (Speech, gestures, objects,
they phone, write, type, text, and email
writing, etc.)
Children learn about emotions as their parSocial-emotional
Children learn about emotions as their
ents teach them these words (happy, bored,
maturation
parents teach them these words (happy,
etc.). They develop emotional regulation
bored, etc.). They develop emotional
regulation and empathy through observa- and empathy through observations of others
tions of others and through conversations and through conversations. Adults continue
to model AAC strategies
As children learn to use AAC, they are
Behavioral presentation
As children learn to speak, they are
expected to use symbols/signals rather than
expected to use words rather than whinwhining, tantrums, etc. to communicate
ing, tantrums, etc. to communicate
Specific rate-enhancing strategies are
Rate of message exchange Younger children process and produce
messages more slowly and develop skill taught and these may be different for differin more rapid communication exchanges ent situations. Residual speech is encouraged because this is always more efficient
over time
than AAC
AAC progress can be slower especially
Rate of progress
In young children, speech and language
when children have cognitive impairments.
skills advance rapidly in the preschool
years and more subtle refinements evolve Systems are modeled, taught, and refined
into adulthood to support communication
naturally even into adulthood
with new partners and in new contexts
famous AAC users. She expressed herself by

signing letters of the alphabet against the palm of
her communication partners hand to begin her
entrance as an interacting and contributing member of society. The success story of Helen Keller
is often perceived as an isolated incident. In reality, the world of AAC has exploded both theoretically and technologically since then with most of
the growth occurring over the past few decades.
Along with most things that develop quickly,
many misconceptions exist. A common misconception among SLPs, parents, and even some
physicians is that giving a child an AAC system
will lead to a disruption or impairment in natural speech production. The research studies have
looked at the impact of AAC upon children of
different ages and diagnoses. A meta-analysis of
these studies by Millar etal. (2006) revealed that
AAC does not impede natural speech production.
A growing body of research is continuing to provide compelling evidence to share with families
when such concerns arise. AAC looks different,
but it does not decrease the likelihood of speech
production (Table2.2).
Another misconception is that AAC is only
for children who have failed to make progress in
27

Table 2.2 The impact of AAC interventions on language acquisition
Study
The impact of augmentative and alternative communication on the speech
production of individuals with developmental disabilities: A research review
(Millar etal. 2006; JSLHR)
Effects of augmentative and alternative
communication intervention on speech
production in children with autism: A
systematic review (Schlosser and Wendt
2008; AJSLP)
Participants
Meta-analysis of six studies involving 27 individuals, most of whom had
intellectual disabilities
and/or autism
Nine single-subject
designs and two group
studies with 98 total
participants
traditional speech-language therapy. Parents and

clinicians do not need to choose between teaching
speech production and teaching AAC strategies.
If deemed appropriate, traditional speech therapy
may be pursued while a child uses an AAC system. In fact, AAC can stimulate verbal expression for many children. AAC is best viewed as a
bridge to optimal communication and thereby an
avenue for promoting cognitive, emotional, and
social development.
2.2Early Intervention
A childs preschool years provide an unparalleled opportunity to nurture all aspects of development during this critical period of rapid learning. The results of a study by Binger and Light
(2006) revealed that 12% of 8,742 preschoolers
who were receiving special education required
AAC. Children who had developmental delays,
autism spectrum disorders, speech-language
impairments, and multiple disabilities were the
most likely to need AAC. Clearly, significant
numbers of preschoolers around the United
States will need this type of communication intervention.
Many parents wonder about the old advice that
toddlers will grow out of speech and language
delays. In fact, there are anecdotal reports of individuals who did not begin talking until they were
three years old or older, and then matured into
adults with typical speech. Children who seem
to have specific language impairment and then
respond quickly to intervention are the very ones
who lend credibility to the notion that speech
Outcome
None of the subjects had decreased speech
production, 11% showed no change and
89% showed increased speech production
AAC interventions did not impede speech
production. Subjects made modest gains in
speech
will eventually develop. Yet even when speech

develops, many late talkers will continue to have
subtle language problems (Rescorla 2009). The
biggest concern is that it is not possible to predict with absolute certainty which young children
will talk and which will not. This is true both for
children who seem typical except for the absence
of speech and those who have other developmental issues such as autism.
A brief period of watchful waiting would be
appropriate when the child is developing normally
in all other areas. When there are other developmental concerns or the communication delay appears to be severe, the risks of limiting acceptable
communication options to only natural speech are
significant and could impact the childs development in many areas. For example, children who
cannot communicate in other ways may tantrum,
become withdrawn, fail to establish friendships,
and become academic underachievers when they
enter school. Children who speak increasingly
use words as they mature and children who need
AAC may use vocalizations, gestures, and symbols for regulating behavior and to support socialemotional maturation (Table 2.1). The urgency
of optimizing the childs learning potential and
social/emotional development requires exploration of AAC options whenever (a) communication delays are evident or (b) the childs history
suggests that he may be at risk for severe speechlanguage impairment. Caregivers need to understand that the choice is NOT between speech and
AAC. Rather the choice is whether to work only
on speech without knowing how quickly (or even
if) this will be a viable expressive option for the
child who is at risk of severe communication
28
difficulties or to support language development

using every means possible.
Table2.1 outlines the difference between spoken language development and language development in children who use AAC. The primary
difference is that in children at risk for severe
communication difficulties, there is a greater
therapeutic focus on reinforcing all vocalizations, watching for subtle signals such as small
gestures, modeling the use of AAC systems, and
providing many opportunities to practice multiple communication modalities such as signs and
picture symbols. The child will progress from
single symbols to combinations and will move
from a less developed communication system
(e.g., crying) to a more symbolic level. The rate
of progress varies for both spoken language development and language development of an AAC
user; however, progress may be slower for those
with cognitive impairments.
Given that predictions about speech development are not completely reliable, the most helpful approach healthcare providers can take when
discussing a childs communication difficulties is
to guide parents toward an appreciation that intervention programs that combine augmentative
communication strategies along with a focus on
improved articulation will be the most successful. The child who does begin to talk has not lost
anything, and the child with persistent, severe
speech production problems has the tremendous
advantage of being able to interact with others to
access the knowledge that will promote greater
academic and social success.
2.3Diagnoses Associated with

Severe Communication
Disorders
2.3.1Medical
A number of medical conditions have comorbid severe communication disorders and may
lead SLPs toward consideration of an augmentative communication system. While some children have a single risk factor, others will have
multiple risk factors that can combine to have a
more profound impact on speech production. An

example is a child who has an intellectual disability, hypotonia, and a behavioral presentation
that affects learning. This youngster is at greater
risk for lasting communication difficulties than
the child who has a single risk factor. However,
a single risk factor can have a devastating effect
such as with the child in our practice who contracted meningitis in infancy. When he was six
years old, he had average scores on nonverbal
cognitive measures. This child had received several years of speech-language intervention and
was able to produce just one speech sound: uh.
A shift in his therapy goals to include a focus on
AAC was urgently needed.
In contrast to children such as the one with
meningitis who had a definitive medical diagnosis, there are other children with severe speech
impairments who present with a normal neurodevelopmental course and without a specific
medical etiology to explain the communication
disorder. Both groups of children needed high
quality, evidence-based interventions including
implementation of AAC strategies.
2.3.2Medical Necessity
The potential outcome is the same for children
with a medical diagnosis that explains their
disability and those without a medical diagnosis: they are not able to participate optimally in
their medical care or in any other aspect of the
daily routine if they are not able to convey their
thoughts, ask questions and answer questions.
When speech is defined as the ability to communicate with others, it is clear that individuals who
are unable to communicate adequately improve
or regain the ability to speak when appropriate
augmentative communication interventions are
in place. This is true both when the etiology of
the speech problem is evident and when it is not.
2.3.3Behavior
From an early age, children use behavior to
communicate. The infant who cries when he is
29
hungry gets reinforced for this behavior: parents

provide sustenance. As children get a little older,
parents learn to differentiate their cries and more
reliably predict whether the child needs a bottle,
a diaper change, or to be held. The expectation
for typically developing children is that they will
advance from crying to more sophisticated communication strategies. They will learn to reach
for objects or vocalize to get their needs met.
When their efforts to vocalize receive a lot of attention, they begin to practice this more and then
begin to produce word approximations.
Children who are not able to progress from
crying to words may persist in crying and add
other undesirable behaviors to get what they want.
For example, the child who screams and hits may
learn that this behavior is a way of asking to be removed from situations he does not like. Research
has documented that communication disorders
and behavior disorders coexist between 33 and
67% of the time (Gidan 1991; Prizant etal. 1990).
While the cause-effect relationship is not well
established, the treatment for behavior disorders
must incorporate communication intervention as
a component of a broader intervention plan that
may also include counseling, behavior modification techniques, and medication management.
2.3.3.1Autism and Intellectual

Disabilities
The behavioral difficulties that can be associated
with autism and intellectual disabilities deserve
special consideration. Both of these diagnoses encompass a broad spectrum of developmental issues which may or may not include limited speech
production. Children with milder forms of these
disabilities may have excellent speech intelligibility and functional language skills. However, there
are many who will have significant articulation
and language impairments. When limited speech
capability coexists with a tendency to be easily
upset, the result can be severe behavioral problems that are difficult to treat. Children may resort
to aggression, tantrums, self-stimulatory behavior,
or excessive whining when they do not have other
methods for getting what they want (Mirenda
2005). These behaviors are not unique to children
with autism and intellectual disabilities, but when
children have multiple diagnoses it can be more

difficult to determine what triggers the maladaptive behavior and equally challenging to plan successful interventions. The research on interventions for children who have autism spectrum disorders, intellectual disabilities, or both shows that
using AAC to support language development and
social communication in these children has the
potential to have a positive effect on both behavior
and communication (Romski and Sevcik 2003).
2.3.4Identification and Assessment

A childs ability to succeed in the classroom,
to develop friendships, and ultimately to obtain
meaningful employment is directly linked to
communication skills. For children with severe
communication disorders, reaching these goals
begins with a thorough communication skills assessment. This process can be set in motion by
the primary healthcare provider who monitors
health and development and guides families toward resources and services in the community.
2.3.5Healthcare Providers Roles and

Responsibilities
Children who have health issues that impact development often have accompanying speech and
language disorders. Physicians and other pediatric healthcare providers play a significant role in
monitoring a childs speech and language skills
and making recommendations for screenings and,
if indicated, full communication assessments.
Knowledge of developmental norms and
guidelines for making referrals to SLPs is vital.
Language development begins within the first
few months of life. A newborn baby is exposed
to the rhythm or prosody of the speech of others
and begins to orient to sounds and then voices in
the environment. As early as four to six months,
the children attempt to babble, an important precursor to speech. Children speak their first words
around 1012 months of age and begin putting novel two-word phrases together at 1824
months. Even young infants who are not bab-
30
bling when expected and show little interest in

social interaction may need speech and language
services. Those who have more severe delays are
potential candidates for AAC.
National and some state programs such as
BabyNet, which serves newborns and children
up to three years old, may provide speech-language therapy services at no charge. Child Find
is the federally mandated public school program
that focuses on identifying children three- to sixyear old with disabilities. Public schools provide
speech and language therapy services for children who qualify in first grade up to the age of 21
(IDEA P.L. 108446 2004). Private speechlanguage therapy services are also available in many
communities.
Healthcare providers need to be aware of SLPs
in their area who are trained to use AAC intervention and strategies to support communication
development. In addition, it is helpful to prepare
parents for the array of interventions, including
AAC, which the SLP may suggest. This focuses
the caregivers on the idea of supporting communication development rather than focusing solely
on speech production. Further, this alerts the SLP
that the expectations for this child include the
possibility of AAC interventions so that this is
explored early in the relationship with the family.
Physicians are sometimes asked to play a
unique role when children need AAC to support
the idea of communication as interaction: third
party payers sometimes require a prescription
from the childs primary care provider when
purchase of a voice output device is being considered. The cost of these devices ranges from
US$100 to as much as US$16,000. Therefore,
the physician who is writing the prescription
needs to have confidence that the SLP who is
recommending the voice output device has made
an appropriate selection that will meet the childs
needs for several years.
2.3.6SLPs Assessment Roles and

Responsibilities
When a communication disorder is either suspected or present, a referral to an SLP is indicat-
ed. While SLPs are not the only source of communication stimulation for a child, these professionals have the training to help support both the
child and those who interact with the child. This
support targets not just how the child sounds and
what words he says but also how well he uses his
knowledge in the everyday routine.
Communication assessment of children who
have some speech: Many children who have
AAC needs will have at least some residual
speech that can and must be nurtured. These children may be able to participate in aspects of a test
protocol that includes standardized testing. The
testing will encompass the following areas:
2.3.6.1Language
Language assessments typically include components that measure five areas: morphology
(grammar), phonology (speech sounds), syntax
(word order/sentence length), semantics (vocabulary/meaning), and pragmatics (social language
use). Children with autism spectrum disorders
(ASD) have the most difficulty with the communication-social component of language (Mirenda
and Iacono 2009). Children with very severe
communication impairments may have difficulty
in all of these areas of language.
Pragmatics deserves special attention because
the ultimate goal is for children to become independent, socially appropriate, and appealing
communicators. This area is the interface of
speech and language skills with daily routines
and familiar and unfamiliar communication partners. Pragmatics is a key consideration in the
development of AAC systems that are effective
and contribute to improved quality of life. Even
though there are standardized tests for pragmatic
skills, these are not normed for children with
severe communication disorders. Therefore the
SLP will assess pragmatic language through informal observations and caregiver interviews.
2.3.6.2Articulation
This is often the most obvious area of communication impairment. Standardized testing includes
administration of tests designed to elicit production of all the speech sounds of English. Children
who have a very limited speech sound repertoire
31
may be asked to imitate very simple words or

single consonant or vowel sounds. An interesting
phenomenon that has a profound effect on speech
intelligibility is the inconsistency that is evident
with apraxia of speech which is a disorder of
motor speech programming. Children with this
disorder often cannot imitate the sounds that they
produce regularly in their spontaneous speech attempts. Those who have motor weakness (dysarthria) will consistently have difficulty producing
sounds clearly. Children may also have a resonance disorder (hyponasality or hypernasality).
Oral structure and function impairments may result in constant or profuse drooling, which may
be remediated with positioning techniques, lipstrengthening exercises, heightening increased
attention to maintaining a closed-mouth posture,
or prescription drugs such as Robinul. Severe
oral structural impairments can drastically affect
articulation skills and may need to be addressed
with surgery. Like many other aspects of communication, children may have combinations of
developmental speech sound errors and apraxia,
dysarthria, and/or oral structural impairments.
2.3.6.3Fluency
A fluency disorder is characterized by deviations in continuity, smoothness, rhythm, and/or
effort with which phonologic, lexical, morphologic, and/or syntactic language units are spoken (ASHA 1999). When children with Down
syndrome, Fragile X, Moya Moya disease, and
traumatic brain injury have severe communication disorders, stuttering may be a concomitant
feature (Van Borsel etal. 2006; Van Borsel and
Vanryckeghem 2000).
2.3.6.4Voice
Voice disorders involve complications in one or
more aspects of vocal quality (hoarseness, stridency, breathiness), pitch (frequency), loudness,
and/or duration (length of time speaking on a single breath), given an individuals age and/or gender (ASHA 1993). Generalized neuromuscular
impairments can have an impact on breath support for residual speech in children with severe
communication disorders. Maximizing postural
integrity through improved seating systems may
increase breath support for longer utterances.

Amplification of residual speech in children who
speak softly may decrease breathiness that arises
from the childs efforts to shout to be heard.
2.3.6.5Vision and Hearing

Determining if there are sensory deficits that
could impact the use of an AAC system is essential. Referrals for vision and hearing assessment
may be suggested before determining the best
AAC device for the child.
2.3.6.6Motor Skills
Optimal positioning is paramount to gesture and
sign language or accessing a communication device and an SLP may refer the child for a seating
and positioning assessment prior to beginning
AAC device trials to ensure a childs optimal access to an AAC device.
2.4AAC Assessment
In contrast to the relative objectivity of standardized testing, AAC assessment has many more
informal, subjective components. A number of
resources have excellent information on planning
and conducting this type of assessment (Beukelman and Mirenda 2005; Hegde and Pomaville
2008). Unlike standardized testing which may be
completed more quickly, a comprehensive AAC
assessment may not be completed within the first
appointment.
Assessing the communication skills of children
who have limited language is frequently a challenge. These children use little or no speech, and
they are often described as prelinguistic. Some
of them may show little interest in playful interactions and others may have physical disabilities
or sensory deficits that have limited their access
to the world around them. With children who are
functioning at this level, the merits of standardized testing are debatable when all the test items
are too hard for the child. Obviously, there are
agencies that require test scores even when standardized testing seems counterproductive.
Another concern about standardized testing
with children who are prelinguistic is that we are
32
often left knowing more about what they cannot

do than what they can do. Without some idea of
what the child is communicating in less conventional ways, we do not have an appropriate starting point for intervention. Further, the energy
expended in charting the absence of skills reinforces the sadness and pessimism that caregivers may already be feeling. Every skill the child
demonstrates is a valuable skill, and beginning
with a functional assessment of all the ways a
child communicates is the most effective way
to help caregivers fully appreciate their childs
potential. Donnellan (1984, p. 141) introduced
the Criterion of the Least Dangerous Assumption, which suggests that it is best to assume all
individuals have something to communicate, but
have severe difficulty doing so. To err on the side
of assuming competence is to set the stage for
creating positive outcomes. Notice the difference
between focusing on what a child cannot do and
what a child can do:
The child is nonverbal, only answers limited
yes/no questions with head movement, and
cannot access (point to) pictures of objects
indicating wants and needs, compared to,
The child can nod/shake his head yes/no to
concrete questions about objects to meet wants
and needs, uses eye gaze for direct selection
of a photo indicating a want/need from a field
of eight photos positioned approximately 18
inches away from him.
2.4.1History
Collaboration with teachers, occupational therapists, physical therapists, teachers of the visually impaired, and input from the parents and
the child with the communication disorder are
critical for the decision-making process (Angelo
2000; Parette et al. 2001; Kintsch and DePaula
2002; Beukelman and Mirenda 2005). Reports of
what has been tried in the past and insights regarding what strategies and equipment did or did
not meet the communication needs are valuable.
As with any speechlanguage assessment, the results of medical, educational, vision, and hearing
assessments will be important elements of the assessment plan for these children.
2.4.2Ecological Inventory
When a standardized test must be administered
to satisfy an agencys eligibility requirements,
the SLP can still support the development of
appropriate goals by supplementing the test results with what is variously called an ecological inventory, a routine-based assessment or
a functional assessment. Using an ecological
inventory for obtaining subjective, pragmatic
information can provide far more information
than structured standardized tests for children
with severe communication disabilities. The interview component of an ecological inventory
often infuses caregivers and interventionists
with greater optimism about the childs potential and that alone is reason enough to focus
on this to obtain baseline data for intervention
planning.
A typical ecological inventory (Nalty and
Quattlebaum 1998) will include the following
questions:
How does the individual communicate now
(gestures, signs, eye gaze, vocalizations, limited verbalizations, object symbols, picture
symbols)?
What are the childs favorite activities, objects,
places, people, and foods?
When does the child try to interact with others
the most?
Where does the child communicate now?
What environmental barriers exist? Does one
communication device or system work better
in one environment than another?
Does the child fatigue quickly? Under what
conditions, if any, can the fatigue be minimized?
Who does the child interact with (e.g., friends,
siblings, teachers, medical personnel, etc.)?
What communication partner barriers exist? Is
one communication partner reluctant to a new
way of communicating or to learn new technology? Will one partner need more training
than another?
33

Table 2.3 Example of an ecological inventory for a morning routine
Daily Routine
Ms. Smith was interviewed about the typical daily routine to better learn about the types of communication symbols
Jarrod is using at home. She described a typical school morning as follows:
7:00 a.m. Ms. Smith walks into Jarrods room to wake him up. He will sit up and look around briefly. Then he
will look at his mother, make eye contact and smile. Ms. Smith helps him get off of his bed. Then he
takes her hand to lead her to the bathroom. Ms. Smith puts him on the toilet. Jarrod wears pull-ups. He
does not indicate that he wants a clean pull-up. He takes his pull-up off later in the day, but he does not
usually do this first thing in the morning. Ms. Smith washes Jarrods face and brushes his teeth. Jarrod
can provide some assistance with this
7:15 a.m. Ms. Smith gets Jarrod dressed. His father selects his clothes for him. Jarrod can assist with parts of the
dressing routine
7:20 a.m. Jarrod goes downstairs on his own accord. He will get a banana or some grapes for himself. When
Ms. Smith comes into the room, she will offer him something to eat. If he does not want what she has
offered, he will begin pointing to things. He will push items away until he gets what he wants. If Jarrod
wants more, he repeats the same routine of pointing toward the cabinet that has what he wants. Jarrod
walks away when he is finished
7:40 a.m. When Jarrod sees everyone going to the door, he gets his jacket and goes to the door. After they arrive
at school, he will occasionally wave goodbye
Jarrods parents provided the following list of activities and objects he likes: bathing/water play, swinging, sliding
on the slide, walking around holding objects, fruit, chicken nuggets, and running
How does the child learn best? Is the child a

visual or auditory learner?
What aspects of the childs current communication system work well?
The basic goals of an in-depth interview about
the daily routine are to determine what the child
is doing to participate in routines and what the
child likes to do (Table2.3). This ecological inventory of the morning routine showed that Jarrod uses eye contact and smiling to interact with
family members. He can point to show that he
knows where his favorite foods are kept, and he
makes selections by pushing away objects/foods
that he does not want. The interview also revealed that there are some additional opportunities for increasing Jarrods communication skills.
For example, pauses could be used to encourage
him to signal that he knows what is coming next
in a routine, and he could be taught to do more
choice making when objects are presented to
him.
An analysis of Jarrods interactions revealed
numerous deliberate attempts to communicate.
Some children will not show as much evidence of
interest in communicating. Ideas for interventions
for children who are not yet showing much intentional communication are available in the book
by Korsten etal. (2007). The authors outline strat-
egies for objectively identifying a childs sensory

preferences and then using these preferences to
develop higher-level communication skills.
2.4.3Feature Matching
Feature matching describes the process of determining what communication system would be
best to explore. The major aspects to consider
when beginning a feature match are the childs
current level of skills, daily needs, current communication system, and future communication
needs. It eliminates the chance of selecting a
device based on its popularity or an ambiguous
determination of being the best one. The website created by AbleData (http://www.abledata.
com/abledata.cfm?pageid=19337) lists many
assistive technology products including AAC
products and their features. The best communication device or system will always be the one that
has the features that meet the needs arising from
the childs disabilities. Determining the optimal
feature matches begins with looking at the individual assessment objectives and their associated
features. The childs assessment team uses selection criteria to match the features to the childs
needs based on their abilities (Table2.4).
34
Table 2.4 Feature matching

Objective
Shared symbol
system
Feature
Unaided: Signs and gestures
Aided: Objects, photographs, graphics,
and/or text
Development of a
Single-meaning pictures: One symbol has
language system
one meaning representing one word or an
entire thought
Semantic compaction: Symbols combined
to generate vocabulary
Spelling: Letters combined to create
words
Vocabulary: Core vocabulary of common,
Construction of
messages to interact frequently used words combined with
personal vocabulary
with others
Access to commu- Direct selection:
nication symbols
Message activated by pushing against the
device surface or using eye gaze
Keyguard to prevent accidental activation
of letter and picture symbols
Indirect selection/switch scanning:
Step, linear, row/column, block
Minimizing visual impairments:
High contrast settings
Zoom and magnifying options
Large display communication devices
Auditory scanning
Selection Criteria
Choose one or more types of symbols that are
consistent with the childs cognitive and literacy
capabilities to nurture multimodal communication
Choose one or more language system(s) that are
consistent with the childs cognitive and literacy
capabilities
Choose meaningful vocabulary to motivate the

child to communicate. A resource is
http://aac.unl.edu/vocabulary.html
Choose selection method that child can reliably
use to efficiently access communication symbols
Abbreviation expansion, word prediction, and
phrase prediction can minimize fatigue
Choose one- or two-switch scanning method that
maximizes the childs reliable movements and is
consistent with the childs cognitive capabilities
Choose background and foreground color, text
and symbol size that allow the child to see and
discriminate between symbols
Choose auditory options so child can choose communication symbols based on using hearing
Minimizing hearing impairments:

Amplification
Access to communication device
Choose amplification level so the child can hear

the voice output
Visual activation cues
Choose visual activation cues so the child can see
what communication messages are selected
Carrying case/shoulder strap: For children Choose a carrying system that allows the child to
who are ambulatory
independently carry the communication device
while ambulating
Choose a mounting system that provides access
Mounting systems: Fasten device to a
to the communication device while the child is
stand or to a wheelchair or bed for chilseated or lying in bed
dren who are non-ambulatory
A final major consideration for a feature

match is the childs future communication needs.
While meeting the childs present communication needs is paramount, addressing the communication needs of the future plays a critical role
in determining intervention goals and objectives
and in selecting communication devices. For
example, a child with a degenerative condition
may need to practice eye gaze access to a dy-
namic display communication device if other

forms of access are expected to deteriorate.
2.5AAC Devices
Although there is great diversity within specific
diagnoses, a specific diagnosis does not indicate the need for a specific device. Device tri-
als are an integral part of the feature matching

process. Determining the best communication
system includes a trial period for the child to use
the device during daily routines and collecting
data to support the recommendation for a specific device. Communication devices can be borrowed from most vendors or from State Tech Act
programs (http://www.resna.org/content/index.
php?pid=132). Many of these programs offer
free AAC device loans and have a device demonstration center. AAC device vendors can often
make arrangements such as rent-to-own, rent, or
a free loan to an AAC professional. In addition,
most vendors will assist the SLP through programming demonstrations or providing information about training webinars or teleconferences.
Communication equipment is often referred to
by its level of technology using three primary categories: low, mid, and high. The words low, or
mid may appear to indicate that these communication devices lack effectiveness, are easy for
all AAC users to learn or require less knowledge
on the part of the team working with the child,
but this is not the case. Again, the most appropriate device is the one that has the features the
child needs. As progress is made, documenting
the AAC users skill with low- or mid-tech devices supports funding requests for more advanced
systems. Regardless of the level of technology,
it is important that communication devices are
recommended based on the results of a thorough
assessment and feature match.
Low-tech includes communication boards
and booklets. Low-tech devices are relatively inexpensive to purchase, or can be quick and easy to
construct and are typically easy to modify. Many
consider it prudent to introduce low-tech communication devices during the assessment process to
kickstart the intervention process, obtain useful
information about issues related to feature matching and as a backup for mid- to high-tech devices.
Mid-tech communication devices require
battery power for operation, cost more than lowtech devices and require communication partners
to have at least a cursory knowledge of how to
program, operate, and maintain the communication device. Human voices are digitally recorded
on mid-tech devices.
35
High-tech communication devices typically

provide a larger vocabulary than low- and midtech devices. Many high-tech devices include
digitized and/or computer-generated synthesized
speech. The training required and the programming and maintenance of the devices can be
more involved than low- and mid-tech devices.
However, when feature matching shows a need
for a high-tech communication device, the impact of these devices in meeting the communication needs of severely multiply-disabled children
cannot be overemphasized.
Readily available mainstream handheld devices with Apple, Android, or Windows operating systems are increasing in popularity and have
AAC software or apps. However the software or
apps may not be robust enough to meet all the
childs communication needs. Vendor support
and training, device warranties and device durability must be taken into consideration. As with
all AAC devices, trial use and careful documentation of effectiveness continues to be important
components of an AAC assessment.
2.6Standardized Tests, Observation,

and Reports from Significant
Others
Standard scores, percentile ranks, and age equivalents are valuable objective data to be reported
in a summary. Descriptive data from standardized tests are reported if the child is very young
or severely delayed in the area of expressive or
receptive communication skills.
The importance of subjective information cannot be overstated for children with severe communication disabilities. Informal observations
are made before, during, and after the standardized testing process. These descriptions should
include comments about the childs response to
new people and objects in their environment,
to structured versus nonstructured tasks, and to
motivating and nonmotivating items or activities. Spontaneous communication in the form of
gestures, facial expressions, body posture, and
vocalizations should be documented. Parents,
school staff, and significant others can be given
36
questionnaires to fill out prior to the assessment.

These questionnaires will include space for the
childs medical history, descriptions of the childs
current communication and participation in the
daily routine, information about motor skills and
reports of behavioral issues that may exist. The
feedback from the questionnaires provides great
insight regarding the childs communication
skills during a typical week. Parents and other
team members will be interviewed further on the
day the child is assessed.
2.6.1Summary of Findings
The summary of all the information gathered
through formal and informal testing is compiled
into a report. This report provides the physician,
parents, therapists, school staff, early interventionists, and others with detailed information
about the childs communication skills, communication goals and objectives, strategies that
facilitate communication and any recommended
AAC devices. Sometimes ongoing therapeutic
trials of AAC strategies and equipment are recommended.
2.6.2Prognosis for Success

Successful outcomes in AAC are specific to each
user, and the traditional language development
paradigm is not always the best model for measuring success. For some children, success might
mean increased participation in an activity or in
interactions with familiar partners. The prognosis for success is based on many factors, and
the childs health status, motivation and support
from others are the foundations for this determination. Strengths in all three areas are not always
needed for successful outcomes, but a pattern of
strengths leads to more reliable predictions about
future outcomes.
2.6.2.1Extrinsic Indicators
Children with severe communication disorders
need considerable support from family, school
staff, and therapists to learn new communica-
tion skills. Using a team approach to intervention

maximizes the benefits to the child, and team
members learn from each other. The parents play
a powerful role in the team. All the other team
members must remember that parents have developed the interaction style they use with their
child in response to the childs communication
efforts, and the parentchild interaction style
may have been profoundly affected by the childs
health issues. It is not uncommon for family
members and other communication partners to
reduce the communication demands on a child
with severe or multiple disabilities as they focus
on the complex process of meeting the childs
basic needs. The communication partners may
have developed a pattern of speaking for the
child and making decisions for him. The parents
ability to shift their focus as the childs health stabilizes so that they can incorporate therapy objectives during everyday routines is an indicator
for a positive outcome. Likewise, when teachers,
early interventionists, shadows, or aides think
creatively about how best to facilitate the childs
communication skills throughout the school day,
the prognosis is more positive. If it is possible
for the childs SLP to cotreat with other team
members, this has the benefits of modeling communicationstimulation techniques for the other
interventionists while reducing any confusion the
child may experience when seeing multiple therapists in separate appointments. This empowers
all adults who interact regularly with the child to
model language using the AAC system.
2.6.2.2Intrinsic Indicators
When a child realizes the power of communication and is motivated to be an active participant
in learning language and engage with communication partners, the prognosis for improvement is
good. Some children experience the frustration
of attempting to communicate through limited
vocalizations, unnoticed or misunderstood gestures or body postures or misinterpreted attempts
to localize with eyes or head position. This can
lead to learned helplessness and being a passive
observer rather than active participant. Some of
these children focus on pleasing others rather
than actively learning a symbol system or how to
use language to meet some of their needs. Unless

the child can be engaged regularly and experience the power of being an active participant in
the communication exchange, the prognosis remains guarded.
2.6.3Stable Versus Progressive

Medical Condition
The childs diagnosis of a stable medical condition plus positive extrinsic and intrinsic indicators suggests a successful outcome in improving
communication skills. However, children who
have medical diagnoses that will lead to developmental regression also need AAC interventions. In these circumstances, the childs ability
to learn or maintain communication skills may be
impacted by increased fatigue, impaired access to
the communication device and pain or sickness
associated with a declining medical condition.
A multimodality communication system can be
implemented to prepare the children for a mode
of communication they will need to rely on more
heavily in the future. For example, a child may be
a proficient communicator with eye gaze, facial
expressions, gestures, signs and a communication
device today, but it is anticipated that eye gaze,
facial expressions, and a communication device
will be the best modes of communication as the
disease process progresses. The SLP will monitor
the childs changing needs and make changes to
his communication system to increase the likelihood of ongoing communication success during
the disease progression.
2.7AAC Intervention
Intervention for AAC use is the next critical step
after the assessment. This is the culmination of
the information collected during the assessment
put into practical application. Intervention begins
with writing functional communication goals.
AAC intervention must be based on evidence
that has been established by research and clinical
and educational practice (ASHA 2005). Although
basic therapeutic concepts have been described
37
in the literature, the features of each communication system remain specific to the individual
user. Communication goals should be culturally
and linguistically appropriate and should include
a strong commitment from family members. Research shows that when the users of electronic
communication devices have the opportunity to
practice frequently with caregivers who show
that they value this type of communication, the
intervention is much more successful (Dada and
Alant 2009; Romski and Sevcik 2003). Modeling
the use of the AAC system is known as Aided
Language Stimulation or Augmented Input
Strategies.
In some respects, AAC interventions for severe communication disorders mirror medical
models of intervention for chronic medical conditions such as diabetes, high blood pressure, and
sickle cell anemia. The patients with these conditions and their health care providers share the
goal of optimal management of the symptoms.
Plans for treatment are made with the understanding that while the disease cannot be cured,
appropriate treatment can (a) help patients live
the most normal lives possible and (b) decrease
complications and costs in the future. Intervention for severe communication disorders can be
viewed within a similar framework. SLPs carefully evaluate the communication abilities and
potential of each child, consider the childs support network and prescribe appropriate interventions. Following this, SLPs work with the child
and all of the childs caregivers to maximize the
childs success with the AAC interventions that
are suggested.
As the intervention begins, it is crucial to help
the team distinguish between AAC and other
learning, symbol, and picture tasks. As parents,
teachers, and other interventionists work with
children who have severe speech impairments,
they ask these children to do what all children
are expected to do: demonstrate what they know
so that adults can measure their knowledge. The
childs responses can take many forms depending
upon any motor difficulties or cognitive delays
that may be present. Some children will look at
the object as it is named to signal that they recognize it. Others may be asked to point to pictures
38
or to use an adapted keyboard to type the answer

to a question.
The difference between AAC and other types
of learning activities must be clarified from the
outset because this confusion can create significant problems for both the AAC user and those
who interact with him. A common misconception
is that any activity done with pictures is the
same thing as AAC. In fact, pictures are used for
many different purposes in the classroom and at
home to meet cognitive/academic goals such as:
Learning family members names
Learning new vocabulary
Reading comprehension
Matching
Sorting
Understanding the daily schedule
Learning the written form of the childs name
from seeing this matched with the photo
The key difference in AAC is that accessing
the pictures is NOT the goal; real, meaningful interaction in a natural, spontaneous conversational
context is the goal. An analogy is that a car is a
tool that takes you to the beach, but the car is not
the same thing as the vacation. In the same way,
AAC is a tool that takes you into social interactions. The focus is on using pictures to engage
another human being rather than on using pictures to demonstrate knowledge.
In our experience, this confusion between
how picture symbols are used in AAC and how
pictures can facilitate other types of learning is
quite persistent. For example, picture identification is a skill that children are taught from a
young age. Parents want their children to recognize pictures of family members and to identify
pictures in storybooks. Increased adeptness in
this skill is associated with increases in cognitive
skills, and so picture identification is a way that
parents can celebrate their childrens achievements. When families are asked to use pictures to
nurture communication, they often need a lot of
support and training as they shift from a focus on
eliciting responses in a teaching format to using
objects, pictures, etc. to nurture improved social
communication skills.
Using pictures and other symbols to communicate is a skill that has to be taught, and we
suspect that it is the teaching component of AAC

that so quickly gets interventionists off track. The
natural tendency is to go back to using pictures
to demonstrate receptive skills and knowledge.
Using pictures for expressive communication
requires creativity and an unwavering focus on
the goal: achieving social communication that is
meaningful by broadening the scope of interactions beyond simplistic demonstration of knowledge and allowing the AAC user to develop the
unique personhood that stems from the ability to
express his thoughts. Failure to understand how
to use symbols to support communication has
major consequences; children who have had to
point to pictures over and over again in learning tasks need an entirely different type of experience in order to recognize the value of using
pictures to develop connections with the people
around them. The focus shifts from demonstration of knowledge to demonstration of a desire
to engage other people both in the ideas that are
interesting to the AAC user and in discussions of
the ideas that interests others.
2.7.1Vocabulary Selection for an AAC

System
The goal for vocabulary selection is to provide
a means for the child to interact with others to
participate fully in home, school, and community
environments (ASHA 1993). Selection of motivating vocabulary is crucial if the child is expected to improve his communication skills. This
means that the childs interests are considered
first, and the vocabulary should include a variety
of word types. While nouns provide the child opportunities to meet basic wants and needs, the vocabulary is not varied enough to allow the child
to learn or experience the benefits of using a rich
communication system to meet social and emotional needs.
Vocabulary development is as closely linked
to social and emotional development as it is to
language development. As they mature, children
are expected to talk about their unhappiness rather than engage in misbehavior. Parents of typically developing children spend a great deal of
39
time and energy supporting this aspect of development at least until their children are old enough
to live independently. A number of reports indicate that children with delayed language skills
show an increased prevalence of problem behaviors. (Chamberlain etal. 1993; Pinborough-Zimmerman etal. 2007; Prizant etal. 1990; Sigafoos
2000). Therefore it is not surprising that even
when early intervention has taken place, children with severe communication disorders may
have behavior problems that must be addressed.
Concerns may include ADHD, frustration, tantrums, aggression, withdrawal, or combinations
of these. Careful vocabulary selection can provide acceptable communication to replace these
problem or challenging behaviors. The research
is compelling, and it shows that improved communication skills can dramatically improve behavior (Sigafoos etal. 2009; Wacker etal. 2002).
Vocabulary selection should rely heavily on
what is known as core vocabulary. Core vocabulary consists of a few hundred words that
make up about 80% of what typical speakers say
(Baker etal. 2000). Most of the core vocabulary
words are not easy to represent with pictures or
objects so the symbols for them may have to be
taught. These words include pronouns, verbs,
articles, adjectives, and demonstratives. If a
childs beginning AAC system offers a limited
amount of messages on the communication device, core vocabulary can maximize available
message space by providing a small vocabulary
set that generalizes across communication environments. Further, core vocabulary facilitates
generative language skills (Cannon and Edmond
2009). Generative language provides opportunities to express fuller meaning as a result of putting words together. For example: a child using
a voice-output communication device can send
one prerecorded message Lets go to McDonalds, or send two prerecorded messages go
and eat. The sentence indicates only one
meaning, whereas combining words allows the
child to begin an interaction with their communication partner who will then ask, Where do
you want to go to eat? This allows the child
to experience new things by asking for different dining places over time. An additional ben-
efit is that the child learns the rules of syntax by

combining words to create different meanings.
Careful consideration should be given to storing
sentences that address more urgent or frequent
needs as single messages. These may include I
need help, Please ask yes/no questions, or
Its not on my communication board/device.
For other messages, access to the core vocabulary should be the priority.
2.7.2Routine-Based Interventions
Routine-based interventions begin with the information obtained from the ecological inventory. This information is used for introducing
many opportunities for the child to communicate
throughout the day during typical activities. The
vocabulary may be available in one or more types
of symbols or devices and is conducive to communication exchanges throughout the day.
2.7.3Writing Individualized Education

Plans (IEPs) for AAC Use in the
Classroom
The Individuals with Disabilities Education Act
(IDEA 2004) states that the need for assistive
technology must be considered for every child
with a disability. Assistive Technology devices
are defined in IDEA 2004 (300.5) as any item,
piece of equipment, or product system, whether
acquired commercially off the shelf, modified, or
customized, that is used to increase, maintain, or
improve functional capabilities of children with
disabilities. One type of assistive technology is
AAC devices. IDEA 2004 ( 300.6) defines an
assistive technology service as any service that
directly assists an individual with a disability
in the selection, acquisition, or use of an assistive technology device. The service includes a
functional evaluation in the childs natural environment; providing acquisition to an assistive
technology device; customization, maintenance,
and repair of the device; coordinating therapies,
interventions, and services with current education and rehabilitation plans; and training the
40
child who uses the device and the childs communication partners. IDEA 2004 (300.105) also
describes each schools responsibility to provide
assistive technology devices or services if these
are required as a part of the childs special education, related services, or supplementary aids and
services.
If the IEP team determines that AAC is needed, then the components of this intervention must
be described in the childs IEP. To ensure the use
of AAC in the classroom, the team documents the
childs communication, academic and functional
needs along with the childs strengths. A statement is included in the IEP about the childs academic achievement and functional performance,
including how the childs disability affects participation and progress in the general education
curriculum.
Based on this information, measurable annual educational and functional goals and objectives are written in the childs IEP (Downey etal.
2004). An academic goal should be written to
include the area of need; the direction of change;
the level of attainment (Wright and Laffin 2001);
and how the AAC device relates to a functional
task. For example, the present level of academic
achievement and functional performance may
show that the child uses varying vocalizations to
get attention, greet others, to protest and to answer
simple yes and no questions. The child also uses
eye gaze to indicate a desire for things in the immediate environment. With a new focus on AAC,
the child has begun to demonstrate some success
using eye gaze to select one of four choices for
activities and can push a single-message voice
output device with the left hand. An example of
a short-term objective is: During group singing
time, the child will use a single-message, voiceoutput device to participate with peers in the repeated chorus 90% of the time as observed during 10 random trials. Another example could be:
Using a portable eye gaze frame, the child will
indicate a preference between four choices 80%
of the time in five random trials. Notice that the
focus of these objectives is on relating the use
of the technology to a functional outcome. The
equipment should not be viewed as an end in itself, but rather a means to an end.
2.7.4SLPs Intervention Roles

and Responsibilities
The American Speech-Language Hearing Association has prepared a position statement on the
roles and responsibilities of SLPs with respect
to AAC. It states that providing AAC services is
within an SLPs scope of practice. SLPs should
acquire training and resources to serve those
who may benefit from AAC; assess and provide
functional treatment with a multi-disciplinary
team approach; use a multimodality approach;
document outcomes; and recognize and support
the way an AAC user prefers to communicate
to maintain and promote quality of life (ASHA
2005). SLPs should have knowledge of typical
developmental stages and skills, conduct comprehensive assessments, identify strategies and implement a comprehensive intervention plan, and
assess effectiveness of the AAC system (ASHA
2002). If the SLP has not had adequate training
in AAC practice, he or she must refer to another
professional who can provide quality services.
2.7.4.1Creating/Providing
Communication Systems
Because AAC is consumer driven, the type of
symbols, layout of symbols, language system,
and level of technology are determined individually for each child and are components of the
communication system. More than one low-tech
communication system can be created to meet the
communication needs across different environments. Typically, the childs SLP is responsible
for the construction of low-tech communication
systems or securing equipment loans for mid- or
high-tech system trials. Low-tech communication devices can be constructed and provided
immediately so that higher-level communication
skills are nurtured in advance of a more sophisticated communication system that may be needed.
Sometimes AAC devices are purchased just
before students transition into new programs and
at other times the parents may purchase devices
without the type of assessment or device trial described as best practice. This has occurred with
increasing frequency as mainstream devices have
become more popular as less expensive alterna-
tives to dedicated AAC devices. As a result, there

may be different opinions about what device best
meets the childs needs. At these times, utmost
diplomacy and regard for each team members
contribution is important in determining how
existing devices fit into the childs multimodal
communication system.
2.7.4.2Educating Communication
Partners
The success of a childs communication system
increases when SLPs teach parents, teachers,
teaching assistants, other therapists and aids how
to encourage the childs functional use of the
communication system throughout the day. The
SLP should also teach these partners to model the
use of the communication system and learn programming basics for mid- and high-tech devices.
Team participation and feedback are essential as
changes and updates to the available vocabulary
and symbol layout are necessary as the child
learns a new communication system.
2.7.4.3Therapeutic AAC Device Trials
Upon using the AAC device consistently for several days, the child may begin to interact with the
device less and less or refuse to use the device.
Some children may not be able to express themselves well enough to give an adequate explanation for this rejection. There are many reasons that
the device may be neglected or refused. The device may be too heavy, or the symbols may be too
small, too complex, too abstract or unmotivating.
Perhaps the communication partners are not modeling and encouraging the use of the device during the naturally occurring activities. The SLP will
want to contact the team members to discuss their
impressions of why the child is resistant to using
the communication device and implement changes
based on observation and feedback from them.
Documenting the level of success the child has
using the device provides data to share with funding sources. Providing data on several different
AAC device trials informs funding sources that
the device is recommended based on evidence of
being the optimal fit for a particular childs communication needs and not because it is the only
one tried or the one deemed best in the market.
41
2.7.4.4Funding and Letters of Medical

Necessity (LMN)
Professionals who support children with communication disorders can reach consensus on the
premises that (a) communication is a fundamental element of human existence, (b) without communication, interactions that nurture basic health
are not possible, and (c) electronic communication devices are a reasonable response whenever
all lower-tech options have been considered and
proven inadequate. Usually vigorous efforts are
needed to secure funding for these more costly
devices. Assisting with funding requests requires
dedication and a significant time commitment of
the SLP.
In addition to the traditional speech and language evaluation and report, Medicaid and other
third party payers also require the SLP to write a
letter of medical necessity (LMN). The LMN incorporates specific information about the childs
communication skills and how AAC equipment is
able to meet those needs and is sent to the physician to request a physicians order for a particular
AAC device. The LMN and the physicians order
are used for applying for funding and justifying
the request through a variety of payer sources. If
the initial funding request is denied, an appeal
letter is written with additional justification.
School districts are required to provide communication devices for a child if they are deemed
necessary for the child to receive a Free and Appropriate Public Education (FAPE). Schools may
purchase an AAC device through their budget or
through available federal or state grants. It is not
unusual for schools to be reluctant to send electronic AAC devices home with children. If the
AAC device is written in the IEP as required tool
for the child to complete homework, then the device must be sent home with the child to ensure a
FAPE. A limited number of federal or state grants
may be available to schools to purchase AAC devices.
As a result of funding constraints that agencies face, some may feel compelled to divide
communication into components that relate to
home, school, medical settings, etc. or to develop
specific guidelines that place constraints on funding based on variables such as age and type of
42
disability. However, it is not possible for SLPs to

ethically restrict communication opportunities to
a specific environment.
If it is appropriate for the child to use a mid- to
high-tech AAC device beyond the school setting
(e.g., the home and the community), insurance
or Medicaid funding may be investigated. Insurance options must be explored prior to seeking Medicaid funding as Medicaid is the payer
of last resort. To receive Medicaid funding, the
child must be eligible for Medicaid and the AAC
device must be deemed medically necessary. Private avenues of funding include church groups,
service clubs such as Lions Club, Sertoma Club,
and Shriners, local charities and private pay.
While the value of communication cannot be
overstated as it relates to the potential for participation in the daily routine and communicating health concerns, fiscal responsibility is an
equally important consideration. The purchase
of an electronic AAC device is appropriate only
when there is compelling documentation of the
other strategies and techniques that have been
tried and have proven inadequate. It is reasonable
to assume that more expensive communication
devices would require extensive documentation
that explains why less expensive alternatives are
inadequate and that these requests would be scrutinized very carefully.
2.8Parents Roles
and Responsibilities
Parents whose children have severe communication disorders are thrust into systems and services that can be confusing and overwhelming.
For some parents to be successful participants in
AAC implementation, they may need an initial
period for mourning and acceptance (SeligmanWine 2007). Team members have to respect this
journey and support both parents and children as
they move through the grief process.
It is not possible to predict how quickly parents will move toward acceptance of AAC systems, and research shows that parent involvement
varies greatly during AAC assessment and implementation (Bailey etal. 2006). Some basic respon-
sibilities that parents face when their child first

receives an AAC device include programming,
participating in vocabulary selection, facilitating
device use across settings, modeling device use,
troubleshooting device problems, and the daily
upkeep and cleaning of the device. Parents must
also allocate the time and effort required for these
activities as they continue to support their childs
development in other areas. They will benefit
from referral to support groups or possibly individual counseling as they balance all the demands
of raising a child with special needs.
2.8.1Parent Participation in AAC

Training
Training is often available from the childs SLP
and device vendors and through workshops, conferences, seminars, and webinars held by specialists in the field. The parents goal will be learning
how to maximize naturally occurring communication interactions through modeling the use
of the device in motivating activities. They also
need to learn to program and maintain electronic
communication devices, make decisions about
appropriate vocabulary, and recognize possible
signs of need for small or large changes to a communication system. Acquiring this amount of information and skill may seem overwhelming at
first, but it can be learned over time.
2.8.2Creating Opportunities for AAC

Use Across Environments
Training the child to use AAC strategies in the
home and community requires that parents become familiar with the AAC objectives and how
to apply them during naturally occurring activities. Parents also need to educate other family
members and significant others in the community
about how best to communicate with their child.
Including a message on the childs communication device stating how the child communicates
and how others may best communicate with the
child may be beneficial. Children always require
many opportunities to practice communication
43
skills to facilitate communication in and across

environments. For example, a child may learn to
use his communication system at home to talk
with his parents about his experiences in school
(Bailey etal. 2006).
2.8.3Advocating for the Child

A parents ability to advocate for their childs
right to communicate, obtain an AAC assessment
and AAC intervention requires knowledge of federal and state laws and policies and procedures.
The onus is often on the parent to become selfeducated about their childrens rights and available services and resources. Schools, state tech
act programs, early intervention agencies, and
support groups can be valuable resources for this
information. A parent may need to remind professionals to include them as part of their childs
assessment team, as participants in device selection, and as participants in vocabulary selection
on the communication device.
Transition planning Specific transitions during the childs development may trigger consideration of an AAC reassessment. Examples are
moving to a new school or home or when the
developmental picture changes significantly.
Parents will need to meet with the childs school
team before and after changes take place to
ensure that the AAC system travels with the child
and continues to meet the communication needs
of the child. An excellent resource for supporting
older students is Transition Strategies for Adolescents & Young Adults Who Use AAC (McNaughton and Beukelman 2010).
2.8.4Updating
An AAC system should provide a means for allowing a child to meet his communication needs now
and in the future. Ongoing monitoring is needed to
determine if the AAC system is providing a means
for the child to engage meaningfully in social relationships and participate in activities with success
(Beukelman and Mirenda 2005). The monitoring
and updating of an AAC system is dynamic in nature and therefore never ends. The AAC systems
used by children typically need updating each
time a significant school transition occurs or when
there is a significant change in development. As
the childs communication and literacy skills improve, the AAC system will again need updating.
A successful AAC system is based on the needs
identified during the assessment and provides a
means to expand and thereby enhance the quality
of social interactions and activities commensurate
with the childs typically developing peers.
2.9Literacy, Language, and AAC

It has been suggested that children with developmental speech/language impairments are at a
higher risk for reading disabilities than typical
peers with no history of speech/language impairment (Schuele 2004, p.176). Factors that may
positively influence a childs literacy skills are
plenty of opportunities to practice reading and
writing, exposure to topics of interest to the child,
regular exposure to peers who read and write,
and many experiences of success while reading
and writing (Special Education TechnologyBritish Columbia 2008).
A child with a severe communication disability may begin communicating with AAC
using single word messages only which should
be drawn from core vocabulary lists. Often, initial communication focuses on the use of single
nouns or verbs. If single-word messages are selected to nurture symbol sequencing, the child
has the opportunity to combine single symbols
to demonstrate an understanding of semantics,
combine symbols to communicate phrases, or
sentences that may increase the specificity of
meaning, promote generative language and develop knowledge of syntax. Syntax refers to how
words are combined and is important for both
communication and literacy skills. For example,
the child may initially use the communication
system to express juice. With practice, the
child may combine single words to convey specific information about the juice such as want
juice, no juice, or more juice. This skill can
44
be extended to literacy as the child learns to read

and perhaps write or type juice and other words
that can be combined with juice.
The increased number of opportunities for
communication using high-tech communication
devices also facilitates literacy skills through
interfaces with other technology. Operating systems in high-tech communication devices often
include word processing, phone, and internet
with e-mail and instant messaging capabilities.
The child can write and communicate with others
while using his specific access method to practice
literacy skills in these motivating activities using
a combination of video, photographs, graphics,
whole words, and individual letters for spelling.
2.10Discharge from Intervention

SLPs are prepared to nurture the childs language skills, both through direct services and
through training teachers and families. Planning
for discharge from formal intervention should
be part of the initial assessment. The IEP team
determines the criteria for discharging the child
from speech-language pathology intervention
through analysis of (a) the communication skills
acquired by the child, (b) the level of independence the child has achieved, (c) the adequacy of
training and followthrough of teachers, parents,
and child for maintaining and updating the communication system as needed, (d) the ability of
teachers, parents, and/or the child to determine
and request a reassessment if the need is present. Discharge should be a natural evolution of a
carefully planned intervention program. In most
instances, when children have severe communication disorders, the parents should be prepared
for the possibility that the child may need additional services in the future.
2.11Summary
For children with severe communication difficulties, AAC is a powerful outlet for celebrating
the fundamental human connection that all children need to thrive. Healthcare providers are in a
unique position to help identify and support children with severe communication disorders, and
this begins with helping the caregivers to access
AAC services for these children. Research has
consistently shown that the use of AAC strategies does not interfere with the development of
speech. Further, when the childs caregivers use
AAC strategies to support language development, the outcomes improve. All children who
have significant developmental delays and those
who may be at risk of severe communication difficulties should have high quality interventions
that are proven to enhance communication skills,
and AAC strategies are in this category.
References
American Speech-Language-Hearing Association (ASHA).
(2002). Augmentative and alternative communication:
Knowledge and skills for service delivery. ASHA Supplement 22, 97106.
American Speech-Language-Hearing Association (ASHA).
(2005). Roles and responsibilities of speech-language
pathologists with respect to alternative communication:
Position statement. ASHA Supplement 25, 12.
American Speech-Language-Hearing Association (ASHA)
Special Interest Division 4: Fluency and Fluency Disorders. (1999). Terminology pertaining to fluency and
fluency disorders: Guidelines. ASHA, 41(Suppl. 19),
2936.
Angelo, D. H. (2000). Impact of augmentative and alternative communication devices on families. Augmentative and Alternative Communication, 16(1), 3747.
ASHA Ad Hoc Committee on Service Delivery in the
Schools. (1993). Definitions of communication disorders and variations. ASHA, 35(Suppl. 10), 4041.
Bailey, R. L., Parette Jr., H. P., Stoner, J. B., Angell, M.
E., Carroll, K. (2006). Family members perceptions of augmentative and alternative communication
device use. Language, Speech, and Hearing Services
in Schools, 37, 5060.
Baker, B., Hill, K., Devylder, R. (2000). Core vocabulary
is the same across environments. Paper presented at
a meeting of the Technology and Persons with Disabilities Conference. California State University,
Northridge.
http://www.csun.edu/cod/conf/2000/
proceedings/0259Baker.htm.
Beukelman, D. R. & Mirenda, P. (2005). Augmentative
and alternative communication: Supporting children
and adults with complex communication needs (3rd
ed.). Baltimore: Brookes.
Binger, C., & Light, J. (2006). Demographics of preschoolers who require AAC. Language, Speech, and
Hearing Services in Schools, 37, 200208.

Cannon, B., & Edmond, G. (2009). A few good words:
Using core vocabulary to support nonverbal students.
ASHA Leader, 14(5), 2022.
Chamberlain, L., Chung, M. C., Jenner, L. (1993). Preliminary findings on communication and challenging behavior in learning difficulty. British Journal of
Developmental Disabilities, 39(77), 118125.
Dada, S., & Alant, E. (2009). The effect of aided language
stimulation on vocabulary acquisition in children with
little or no functional speech. American Journal of
Speech-Language Pathology, 18, 5064.
Donnellan, A. M. (1984). The criterion of the least dangerous assumption. Behavioral Disorders, 9, 141150.
Downey, D., Daugherty, P., Helt. S., Daugherty, D. (2004).
Integrating AAC into the classroom: Low-tech strategies. ASHA Leader, 36, 67.
Gidan, J. J. (1991). School children with emotional problems and communication deficits: Implications for
speech-language pathologists. Language, Speech, and
Gosnell, J., Costello, J., Shane, H. (2011). There isnt
always an app for that. Perspectives on Augmentative
and Alternative Communication, 20(1), 7.
Hegde, M. N., & Pomaville, F. (2008). Assessment of
communication disorders in children: Resources and
protocols. San Diego: Plural Publishing.
Kintsch, A., & DePaula, R. (2002). A framework
for the adoption of assistive technology. http://
www.cs.colorado.edu/l3d/clever/assets/pdf/akSWAAAC02.pdf. Accessed 11 June 2004.
Korsten, J. E., Foss, T. V., Mayer Berry, L. (2007). Every
move counts, clicks and chats (EMC3) sensory-based
approach: Communication and assistive technology.
Lees Summit: EMC.
Individuals With Disabilities Education Act of 2004
(2004) Pub. L. No. 108446, 300.34 et seq.
Light, J. C., Arnold, K. B., Clark, E. A. (2003). Finding a
place in the Social circle of life: The development
of sociorelational competency by individuals who use
AAC. In J. C. Light, D. R. Beukelman, & J. Reichle
(Eds.), Communication competence for individuals
who use AAC: From research to effective practice
(pp.361397). Baltimore: Brookes.
McNaughton, D. B., & Beukelman, D. R. (2010). Transition strategies for adolescents & young adults who use
AAC. Baltimore: Brookes.
Millar, D. C., Light, J. C., Schlosser, R. W. (2006). The
impact of augmentative and alternative communication intervention on the speech production of individuals with developmental disabilities: A research review.
Journal of Speech, Language, and Hearing Research,
49, 248264.
Mirenda, P. (2005). AAC for communication and behavior
support with individuals with autism. Paper presented
at the Annual Convention of the American SpeechLanguage-Hearing Association, San Diego, CA.
Mirenda, P., & Iacono, T. (2009). Autism spectrum disorders and AAC. Baltimore: Brookes.
Nalty, L., & Quattlebaum, P. (1998). A practical guide to
augmentative and alternative communication: Assess-
45
ment and intervention strategies. Greenville: Super
Duper.
National Joint Commission for the Communication Needs
of Persons with Severe Disabilities. (1992). Guidelines for meeting the communication needs of persons
with severe disabilities (Guidelines). www.asha.org/
njc.
Nelson, N. W. (2010). Language and literacy disorders:
Infancy through adolescence. Boston: Allyn & Bacon.
Parette, H. P., Huer, M. B., Brotherson, M. J. (2001).
Related service personnel perceptions of team AAC
decision-making across cultures. Education and
Training in Mental Retardation and Developmental
Disabilities, 36, 6982.
Paul, R. (2007). Language disorders from infancy through
adolescence: Assessment and intervention (3rd ed.,
p.11). St. Louis: Mosby.
Pinborough-Zimmerman, J., Satterfield, R., Miller, J.,
Hossain, S., McMahon, W. (2007). Communication
disorders: Prevalence and comorbid intellectual disability, autism, and emotional/behavioral disorders.
American Journal of Speech-Language Pathology, 16,
359367.
Prizant, B. M., Audet, L. R., Burke, G. M., Hummel, L.
J., Maher, S. R., Theadore, G. (1990). Communication
disorders and emotional/behavioral disorders in children and adolescents. Journal of Speech and Hearing
Disorders, 55, 179182.
Rescorla, L. (2009). Age 17 language and reading outcomes in late-talking toddlers: Support for a dimensional perspective on language delay. Journal of
Speech, Language, and Hearing Research, 52, 16.
Romski, M. & Sevcik, R. A. (2003). Augmented language input: Enhancing communication development.
In J. Light, D. Beukelman, & J. Reichle, Communicative competence for children who use AAC: From
research to effective practice (pp. 147162). Baltimore: Brookes.
Schlosser, R., & Wendt, O. (2008). Effects of augmentative and alternative communication intervention on
speech production in children with autism: A systematic review. American Journal of Speech-Language
Pathology, 17(3), 21230.
Schuele, C. M. (2004). The impact of developmental
speech and language impairments on the acquisition of
literacy skills. Mental Retardation and Developmental
Disabilities Research Reviews, 10(3), 176183.
Seligman-Wine, J. (2007). Supporting families of children who use AAC. ASHA Leader, 12(10), 1719.
Sigafoos, J. (2000). Communication development and
aberrant behavior in children with developmental disabilities. Education and Training in Mental Retardation and Developmental Disabilities, 35(2), 168176.
Sigafoos, J., OReilly, M. F., Lancioni, G. E. (2009).
Functional communication training in choice-making
interventions for the treatment of problem behavior
in individuals with autism spectrum disorders. In P.
Mirenda & T. Iacono (Eds.), Autism spectrum disorders and AAC (pp.333354). Baltimore: Brookes.
46
Special Education Technology-British Columbia. (2008).
Literacy and AAC. Supporting people who use
AAC strategies: In the home, school, & community
(4th ed., pp. 3538). Special Education TechnologyBritish Columbia: Vancouver.
Van Borsel, J., & Vanryckeghem, M. (2000). Dysfluency
and phonic tics in Tourette syndrome: A case report.
Journal of Communication Disorders, 33, 227240.
Van Borsel, J., Moeyaert, J., Mostaert, C., Rosseel, R.,
van Loo, E., van Renterghem, T. (2006). Prevalence of
stuttering in regular and special school populations in

Belgium based on teacher perceptions. Folia Phoniatrica et Logopaedica, 58, 289302.
Wacker, D. P, Berg, W. K., Harding, J. W. (2002). Replacing socially unacceptable behavior with acceptable
communication responses. In J. Reichle, D. R. Beukelman, & J. C. Light (Eds.), Exemplary practices
for beginning communicators: implications for AAC.
(pp.97122). Baltimore: Brookes.
Wright, A., & Laffin, K. (2001). A guide for writing IEPs.
Madison: Department of Public Instruction.
Attention-Deficit/Hyperactivity
Disorder (ADHD), Perceived
Competence, and Self-Worth:
Evidence and Implications for
Students and Practitioners
Andrew J. Martin
Abstract
Perceived competence and self-worth have received extensive attention

in relation to mainstream students. Relatively less attention has been
given to perceived competence and self-worth in relation to students with
special needs. The present chapter does so with specific focus on students
with Attention-Deficit/Hyperactivity Disorder (ADHD), their functioning in the academic domain, and extensions of findings to students with
learning disabilities more generally. The research focusing on students
with ADHD identifies numerous factors underpinning their perceived academic competence and self-worth. These factors hold direct implications
for strategies practitioners can use to develop more positive conceptions
of self. Through genuinely addressing psycho-educational, interpersonal,
and academic factors relevant to perceived competence and self-worth,
there are clear intrapsychic and educational benefits to be gained by students with ADHDand by practitioners seeking to improve their academic functioning. Addressing some, most, or all of these factors places the
students with ADHD in a stronger position to achieve to their potential and
feel more positive and optimistic about learning and about themselves.
Abbreviations
ABA Applied Behavior Analysis

ADHD
Attention-Deficit/Hyperactivity Disorder
BFLPE Big-Fish-Little-Pond Effect
BIP Behavior Intervention Plan
DSM-IV Diagnostic and Statistical Manual of Mental Disorders, Version 4
LD Learning Disability(ies)
PB Personal Best
PBI Personal Best Index
A. J. Martin ()
Faculty of Education and Social Work, University of
Sydney, A35 Education Building, NSW 2006, Australia
e-mail: andrew.martin@sydney.edu.au
47
48
3.1Introduction
Psycho-educational factors play a significant role
in students academic, cognitive, social, and personal development (Bandura 1986, 1997; Covington 1992; Deci and Ryan 2000; Eccles 1983;
Marsh 2007; Martin 2007; Pintrich 2003; Weiner
1986, 1994; Wigfield 1994). These factors include, inter alia, self-esteem, subjective competence, self-concept, and self-efficacy (Marsh
2007; Martin 2007)collectively referred to
here as perceived competence and self-worth.
Perceived competence and self-worth have received extensive attention in relation to mainstream students (e.g., see Covington 1992;
Marsh 2007; Martin 2007). Relatively less attention has been given to perceived competence
and self-worth in relation to students with special
needs. The present chapter does so with specific
focus on students with Attention-Deficit/Hyperactivity Disorder (ADHD) and their functioning
in the academic domain.
The purposes of the present chapter are fourfold. First, it seeks to define ADHD, its alignment
with other learning disabilities (LD), and findings
in relation to prevalence, etiology, symptoms, and
consequences. Second, it seeks to identify issues
relevant to perceived competence and self-worth
and implications for the academic development
of students with ADHD. Third, it addresses the
issues of comorbidity in the context of perceived
competence and self-worth concerns. Fourth, it
suggests various intervention approaches for addressing ADHD symptoms and for enhancing the
perceived competence and self-worth of students
with ADHDand LD more generally. Importantly, these interventions are not only relevant
to educational practitioners dealing with students
with ADHD and LD, but also to medical and
allied health professionals seeking to enhance
the educational and other outcomes of students
whose learning and achievement are adversely
affected by their condition.
A. J. Martin
3.2ADHD, Definitions, Prevalence,

Causes, and Consequences
To appropriately frame the present discussion
of ADHD and perceived competence and selfworth, it is first important to locate the disorder
within the broader context of LD, summarize
epidemiology and etiology, describe models and
frameworks that have been advanced to explain
the condition, and recognize various comorbidities that not only intersect ADHD symptoms but
also shape various dimensions of students perceived competence and self-worth.
3.2.1Learning Disabilities and ADHD

Learning disabilities (LD) encompass cognitive,
attentional, and behavioral deficits that hold implications for diverse aspects of childrens development (Coplin and Morgan 1988; Tabassam
and Grainger 2002). These deficits considerably
overlap deficits typical of ADHD (Cantwell and
Baker 1991; Pisecco et al. 1996; Reason 1999;
Tabassam and Grainger 2002). It is estimated
that approximately one-third of students with LD
have ADHD (Hallahan 1989; Robins 1992). Of
particular relevance to the present discussion,
relative to mainstream students, those with LD
report significantly lower self-concept. For example, it has been suggested that approximately
81% of LD students report lower self-concepts
than typically achieving students (Chapman
1988; see also Durrant et al. 1990). Thus, although the bulk of this discussion focuses on
students with ADHD, there is sufficient variance
in behavior, cognition, and affect shared across
LD and ADHD to tentatively generalize from
ADHD to LD. Supporting this proposition, data
in Carmichael etal. (1997) showed that coexisting ADHD was found in 4180% of students diagnosed with LD while McKinney etal. (1993)
found co-occurrence up to 63%. Commenting
on these figures, Tabassam and Grainger (2002)
concluded that many students with LD also experience ADHD (p142).
3 Attention-Deficit/Hyperactivity Disorder (ADHD), Perceived Competence
3.2.2Epidemiology
ADHD is defined as a persistent pattern of inattention and/or hyperactivityimpulsivity that
is more frequent and severe than typically observed in individuals at a comparable level of
development (American Psychiatric Association,
Diagnostic and Statistical Manual of Mental Disorders, Version 4 (DSM-IV) 1994, p48). Three
subtypes have been identified: predominantly hyperactive-impulsive type, predominantly inattentive type, and combined type (American Psychiatric Association 1994). There tends to be broad
agreement on prevalence statistics of approximately 35% amongst children (Purdie et al.
2002), with approximately 5070% of childhood
ADHD cases persisting into adolescence (Barkley 1990; Barkley et al. 1990; MacLeod and
Prior 1996; Mannuzza and Klein 2000; Robin
1999; Shaw-Zirt et al. 2005). Amongst adults,
it is suggested that approximately 25% experience ADHD symptoms at a clinical level (Gaub
and Carlson 1997; Sagvolden and Archer 1989;
Williams etal. 1999). The factors associated with
persistent patterns of ADHD through to adolescence and adulthood are discussed in the following sections.
3.2.3Etiology
Numerous causes of ADHD have been proposed.
Biological factors receive the most support, with
ADHD a result of biological/genetic predisposition (Barkley 1990; Hynd et al. 1991). There
are also genetic/epigenetic/environmental interactions (see below). Other causes cited include
parental/home factors, including parental mental
health and parenting practices (Williams et al.
1999; but note that poor parenting can result
from the challenges of parenting a child with
ADHD, Barkley 1985), physical dysfunction,
difficult birth, and adverse early life and social
experiences (Williams et al. 1999). The social
construction of ADHD has been suggested, with
the rise in ADHD diagnoses (see Diller 1998)
49
said to be due to shifts in socio-cultural values

and standards of acceptable behavior (Marks
1999). Similarly, educational constructions of
ADHD position ADHD behaviors and symptoms
as a response to disengaging and unmotivating
curriculum and pedagogy (Breggin 1998; Stein
1999). Other factorsthough, not receiving substantial or consistent support (Barkley 1990)
include food additives, sugar overload, and nutritional deficits.
3.2.4Models and Symptoms

A widely recognized model of ADHD is the one
proposed by Barkley (1997a, b) which posits
behavioral inhibition as the central impairment.
Barkley links the problems with behavioral inhibition to four executive neuropsychological abilities: working memory (holding information in
mind, forethought, sense of time); internalization
of speech (reflecting on behavior, self-questioning, self-instruction); self-regulation of affect,
motivation, and arousal (self-control, perspective
taking, goal-directed action); and reconstitution
(accurate and efficient communication of information). Consequently, impairments in these
four executive functions lead to difficulties with
motor control, task-irrelevant responses, inability
to execute goal-directed behavior, and problems
re-engaging in tasks after being disrupted (Purdie
etal. 2002).
Models centering more on biology include
those proposed by Hunt and colleagues. Hunt
et al. (1994) proposed that ADHD is a function of disturbances in one or more of the following neurotransmitter and neurofunctional
systems: Dopamine (cognition), norepinephrine
(arousal), and serotonin (inhibition and reward).
Other models of ADHD tend to focus more on
symptoms encompassing poor attention span, decreased problem solving skills, inaccurate coding
of information to working and long-term memory, low frustration tolerance, problems with organization and self-regulation (e.g., Wagner 2000),
and interpersonal difficulties (Kendall 2000).
50
3.2.5Comorbidity
ADHD is comorbid with other conditions and
disorders. For example, relatively high levels of
oppositional defiance disorder/conduct disorder
are evident among students with ADHD (Ostrander et al. 2006). Higher rates and levels of
depression have also been found (Angold et al.
1999; Blackman etal. 2005; Crystal etal. 2001),
and the condition has been associated with relatively poorer long-term psychiatric outcomes
(Ollendick and King 1994), suicide, aggression,
and psychiatric hospitalization (Lewinsohn etal.
1993; Treuting and Hinshaw 2001). Interestingly, however, some research has shown that
when externalizing items are removed from
depression inventories, the depression scores of
children with ADHD do not differ significantly
from comparison groups (Hoza et al. 1993; see
also Norvell and Towle 1986). This suggests that
correlations between ADHD and depression may
be spurious, at least in part. Moreover, in studies
of university/college students with ADHD, there
is research that has failed to find disproportionate rates of depression or psychological distress
(Bertot 2002; Heiligenstein etal. 1999).
3.2.6Effects and Consequences

ADHD has effects across the spectrum of child
and adolescent development (Barkley etal. 1996;
Cantwell 1996; Murphy and Barkley 1996). Indeed, Barkley (1997a) points out that the neurobiological bases of ADHD creates major deficits
in normal development that create a cascade of
secondary problems throughout the individuals
executive system.
However, it is the intersection with the academic domain that seems to pose most difficulties. The tasks and requirements presented to
children and young people at school require the
very functions that ADHD seems to most impair.
Accordingly, research demonstrates poor performance in mental arithmetic (Mariani and Barkley
1997; Pennington and Ozonoff 1996), elevated
rates of dyslexia (Harpin 2005), academic motivation deficits (Oosterlaan and Sergeant 1998),
A. J. Martin
underachievement (Heiligenstein and Keeling

1995), misbehavior (Fergusson etal. 1996), and
significantly lower grade point average (Heiligenstein etal. 1999).
In nonacademic domains and in some cases,
across the lifespan, ADHD is associated with
poor peer relations (Barkley 1998; Harpin 2005;
Hinshaw 1994), poorer quality of life (Greenwald-Mayes 2002), delinquency (Krueger and
Kendall 2001), lower occupational rank and psycho-social adjustment (Slomkowski etal. 1995).
However, children with ADHD who are free of
hyperactivity in adolescence tend to display few
academic and social difficulties and do not demonstrate deviant adjustment patterns (Mannuzza
etal. 1988).
3.3ADHD, Perceived Competence,

and Self-Worth
In the context of these chronic and acute academic and other difficulties, there is a need to
consider the psycho-educational factors that intersect ADHD. Across a vast body of literature,
psycho-educational factors are shown to play a
central role in students academic development
(e.g., see Marsh 2007; Pintrich 2003; Schunk and
Miller 2002). As foreshadowed at the beginning
of the chapter, the psycho-educational factors
under focus here are self-esteem, subjective competence, self-concept, and self-efficacy (Marsh
2007; Martin 2007)collectively referred to as
perceived competence and self-worth. Indeed,
Kewleys (1999; see also Harpin 2005) model
detailing the stages of ADHD has childrens selfconceptions as a foundational stage of development.
3.3.1Difficulties Assessing Perceived

Competence and Self-Worth
Before examining perceived competence and
self-worth in students with ADHD, it is appropriate to recognize some of the difficulties researchers have reported in collecting data on self-conceptions of children with ADHD. Over the past
two decades, there have been concerns about the

reliability and validity of self-report data collected from children and young people with ADHD
(Landau etal. 1991). For example, some research
has suggested low agreement between self-report
and behavior ratings of ADHD symptoms (Loeber et al. 1991; however, other work suggests
self-reports are more accurate when children are
medicated; Milich etal. 1989). It is also the case
that because the overt behavior of ADHD is so
readily observable and usually of central interest,
there has not been such an interest in self-report
data (Hoza etal. 1993). Hence, the following discussion of perceived competence and self-worth
must be considered against the relatively limited
work into the phenomena.
3.3.2Models of Perceived
Competence and Self-Worth in
the Context of ADHD
Some researchers have outlined processes and
dynamics relevant to perceived competence and
ADHD. Pisecco etal. (2001) have described how
childrens early school experiences create a foundation for their perceptions of academic competence that then shapes their academic development. Cast in this light, the academic difficulties
experienced by students with ADHD adversely
affect their academic self-conceptions. In similar
vein, Chapman (1988) outlined a self-perpetuating cycle such that students with negative selfconceptions view future academic achievement
as unlikely and give up quickly on difficult academic tasks. This sets in train a helpless pattern
of perceived competence and academic efficacy.
Krueger and Kendell (2001) further suggest that
the challenging behaviors and orientations exhibited by students with ADHD render it difficult for
even tolerant parents and teachers to respond in
positive and accepting ways. This negative interpersonal reciprocity adversely affects the development of the childs emerging self.
Others have articulated developmental perspectives on perceived competence. Vital to these
developmental models is the fact that ADHD
emerges at a time when conceptions of self are
51
crystallizing (Harter 1993). In the early stages

of school, the conceptions of self tend to be unidimensional and transient (Cicchetti and Toth
1995; Harter 1982). At about 8 years, the children
begin to attribute success and failure to personal
characteristics, and their sense of competence begins to be linked more specifically (rather than
diffusely) to interactions with their environment
(Dweck and Leggett 1988; Harter and Whitesell
1989). It is also at this stage that ADHD symptoms and effects become more salient and with
attributions of poor academic outcomes to self,
perceived competence begins to suffer. From
here, childrens self-conceptions become more
stable and global (Harter 1999) and they become increasingly aware of how they compare
with others (Dumas and Pelletier 1999; Dweck
and Leggett 1988). Also at this stage, childrens
self-conceptions become more aligned with how
others are oriented to them (Eccles etal. 1993).
Taken together, as others become negatively oriented to poor academic performance and problematic behavior and as children with ADHD
become increasingly aware of their academic
standing relative to others, it is not surprising that
they develop negative appraisals of self.
Motivational models of ADHD have also
been advanced. Douglas (1983, 1985), for example, suggests that students with ADHD experience more task-relevant frustration and do
not exert the effort required for completion of
difficult tasks (see also Milich and Greenwell
1991; Milich and Okazaki 1991). In abandoning
tasks sooner than other students, they solve fewer
problems, and thus progressively cut themselves
off from possible academic success. Limited access to success provides an insufficient basis for
the development of perceived competence and
self-worth (Martin 2007).
Explanations of perceived competence
couched in terms of identity formation and stigmatization offer another perspective on the developing self and ADHD. Research by Krueger
and Kendall (2001) found that students with
ADHD described themselves in terms of their
ADHD symptoms and tended not to hold a sense
of identity distinct from the disorder. They did
not see ADHD as a disability that was the cause
52
of many academic (and other) difficulties. Rather, they saw symptoms and difficulties as part
of their core self. Interestingly, Krueger and
Kendall found that students would defend their
ADHD symptoms as though they were defending
aspects of their core being. According to Kruger
and Kendell, this underscores the importance of
understanding and addressing perceived competence and self-worth in children and adolescents
with ADHD.
3.3.3ADHD and Levels of Perceived

Competence and Self-Worth
the Intuitive Findings
In the context of these models, it might reasonably be predicted that children and young people
with ADHD will evince lower levels of perceived
competence and self-worth. As intuitive as this
prediction may appear, the evidence is somewhat
mixed (Edbom etal. 2008). Here, the intuitive
findings are discussed. Further below, somewhat
counter-intuitive findings are discussed, along
with a rationale to explain the conflicting results.
Tabassam and Grainger (2002) found students
with ADHD reported markedly lower academic
self-concept and academic self-efficacy compared with peers achieving at typical levels.
Similarly, Dumas and Pelletier (1999) found that
children with ADHD evinced lower levels of perceived scholastic competence. Further down the
track, it has been found that university/college
students with ADHD symptoms demonstrate
poorer functioning in respect to college adjustment (Shaw-Zirt etal. 2005).
Evidence also suggests deficits in perceived
competence in nonacademic (e.g., perceived social competence) and general self (e.g., self-esteem) domains. For example, Ostrander and colleagues (Ostrander et al. 2006) found that children with ADHD presented with lower perceived
social competenceas has also been found with
university/college students with ADHD symptoms (Shaw-Zirt et al. 2005). Edbom and colleagues found that children with high scores on
ADHD symptoms also reflected low score profiles on general self-esteem factors (Edbom etal.
A. J. Martin
2008). Similarly, lower self-esteem is reported by

adolescents who had been diagnosed with ADHD
in childhood (Slomkowski etal. 1995)a finding consistent with Treuting and Hinshaw (2001).
Indeed, Dooling-Litfin and Rosen (1997) found
that university/college students who had been
labeled ADHD in childhood reported lower selfesteem as university/college students (see also
Hechtman etal. 1980). However, counter to this,
others have found that lower levels of perceived
competence tend to be restricted to the academic
domain and not the nonacademic domain (Chapman 1988; Harter etal. 1998).
In considering these generally negative effects
of ADHD on various indicators of perceived
competence, Weiss and Hechtman (1986) concluded that the actual symptoms of ADHD are
less problematic than the psycho-social problems
in childhood and adolescence resulting from the
ADHD symptoms.
3.3.4ADHD, Comorbidity, and

Perceived Competence,
and Self-worth
It is evident that perceived competence and selfworth vary not only as a direct function of ADHD
(and its symptoms) but also as a function of comorbidity. Research suggests different patterns
of comorbidity are linked with different patterns
of self-conceptions (Hoza etal. 2004). Similarly,
across various ADHD comorbidity profiles, children with ADHD who also have internalizing
symptoms are found to be lower in self-esteem
(Bussing et al. 2000). Others have found that
approximately half the variance shared between
ADHD and depression is mediated by perceived
competence (Ostrander et al. 2006). Related to
this is work finding a similar mediating role for
self-esteem between ADHD and substance abuse
and deviant peer choice (Emery etal. 1993; Gordon and Caltabiano 1996; Moore etal. 1996). In
fact, Hoza etal. (2004) suggest that one reason
ADHD is not directly linked to lowered selfesteem is because depressive symptoms are confounding findings; after controlling for depressive symptoms, self-esteem differences are not
so evident (see also Hoza etal. 1993). Contrary

to these general findings, however, is work finding no difference in self-esteem as a function of
psychopathology (Slomkowski etal. 1995).
3.3.5ADHD and Levels of Perceived

Competence and Self-worth
the Counter-Intuitive Findings
As noted above, counter to the somewhat expected connection between ADHD and lower
levels of perceived competence are findings suggesting that perceived competence is not significantly different from that found in the nonclinical
populationand that in some studies, perceived
competence amongst students with ADHD may
in fact be elevated. This latter pattern of effects is
referred to as positive illusion.
Hoza etal. (2002; see also Edens 1999; Gresham etal. 2000; Hoza etal. 2004) have suggested
that perceived competence is most appropriately
determined by assessing against external criteria that index actual competence. In doing so, it
is then possible to assess whether students with
ADHD are under- or over-rating themselves relative to objective criteria. Simply comparing their
absolute levels of perceived competence against
nonclinical populations or with no regard for the
criteria on which they rate themselves is relatively meaningless. Essentially, then, it is the accuracy of their perceived competence that is, the
critical issue.
Applying this approach to assessing perceived
competence, Hoza etal. (2004) found that children with ADHD were more likely than comparison children to overrate their competence
relative to an adult (e.g., teacher, parent) report.
More strikingly, these children made the greatest
overestimations of competence in their areas of
greatest deficit (see also Hoza etal. 1993, 2002).
Of pertinence to the present discussion, lowachieving students with ADHD were most likely
to inflate their estimates in the academic domain
(Hoza etal. 2002).
This led Hoza etal. (2002, 2004) to consider
positive illusion as an explanation for these inflated self-estimates and that this positive illusion
53
served a self-protective function to help students

with ADHD cope with their deficits. This follows
from Taylor and Browns (1988) thesis that overly positive self-appraisals are characteristic of
normal human thought and can be adaptive under
circumstances of adversity. According to Taylor
and Brown, positive illusion may assist individuals to persist after failure and setback. In this
context, positive illusion may be considered an
adaptive defensive mechanism for students with
ADHD who are faced with academic setback
and failure and must find a way to cope through
these events (Hoza et al. 2004; but see Ohan
and Johnston 2002, who found no such selfprotection in the academic domain). According
to Hoza et al. (1993), accurate self-perceptions
may be too distressing and debilitating for these
students and overestimations are an effective
means of ego-protection. Hoza and colleagues
recommended further work investigating the
consequences of positive illusion amongst children with ADHD. Also in need of further work
is the issue of whether overestimations actually
serve an ego-protective function. Indeed, work
along these lines is also important because some
researchers have not found evidence of positive
illusion amongst children with ADHD (Slomkowski et al. 1995), whilst others have argued
for the importance of accurate self-perceptions
for healthy human development and functioning
(Colvin etal. 1995).
3.4Treatment and Intervention for

ADHD Symptoms
In this section, the issue of treatment and intervention for ADHD symptoms is addressed. In
the more detailed section to follow, the issue of
treatment as relevant to perceived competence
and self-worth is addressed. Treatment and intervention generally take the following forms:
pharmacological, behavioral, cognitive-behavioral, parental, educational and classroom, allied
health-related, and combined/multi-modal. In the
case of perceived competence and self-worth, the
psycho-educational intervention is also emphasized.
54
3.4.1Pharmacological Intervention
Pharmacological intervention (typically in the
form of stimulants) is the most common form of
intervention (Barkley 1990; Purdie et al. 2002)
with substantial increases in medication rates
over the past three decades (Barkley 1990; Bennett etal. 1999; Hoagwood etal. 2000; Pelham
and Hoza 1987; Purdie etal. 2002; Rapport etal.
1993; Swanson etal. 1993). Whilst being an effective frontline approach to symptom management, there are not such direct gains in academic
performanceunderscoring the need to also
intervene on other fronts (e.g., educational, see
Sect.3.4.3). Indeed, there is concern that an overreliance on pharmacological intervention delays
the implementation of needed nonpharmacological intervention (Purdie etal. 2002; Swanson
etal. 1993) and the issue of medication continues
to be debated (Breggin 1999; DeGrandpre 2000;
Diller 1998; Mayes et al. 2009; Purdie et al.
2002). More recently, research has focused on
intervention that can take place alongside pharmacological approaches. For example, work into
cognitive training and ADHD seeking to improve
executive functioning (e.g., working memory)
has suggested that cognitive training can augment pharmacological intervention and that both
intervention approaches do better than either one
alone (Holmes etal. 2009); specifically, medication was found to improve visual-spatial memory
while cognitive training evinced gains in working memory (but neither assisted IQ). More recent research has explored organic or natural
supplements, with recent interest in the merits
of fatty acids. Early findings have been somewhat encouraging (Richardson and Montgomery
2005; Sinn and Bryan 2007), but further research
is warranted to establish the consistency of these
and other potentially beneficial effects.
3.4.2Behavioral, Cognitive,
and Cognitive-Behavioral
Intervention
Behavioral, cognitive, and cognitive-behavioral
interventions are also common. Behavioral inter-
A. J. Martin
vention emphasizes positive reinforcement and

negative reinforcement to promote and reduce
desirable and undesirable behavior respectively
(Damico and Armstrong 1996). Reviews of behavioral treatments suggest they can be effective
in promoting behavior important for classroom
learning (Fiore etal. 1993). Cognitive intervention includes approaches such as cognitive and
brain training exercises that target aspects of
executive functioning. As indicated above, research suggests that cognitive training can augment pharmacological intervention and that both
intervention approaches do better than either one
alone (Holmes etal. 2009). Cognitive-behavioral
intervention addresses self-talk, self-instruction,
and self-monitoring in the course of learning and
problem solving. These are developed with a
view to enhancing self-control and control over
impulsive behavior. Cognitive-behavioral intervention has been found to yield short-term benefits but there has been some difficulty generalizing the efficacy of acquired cognitive-behavioral
strategies across different settings (Ervin et al.
1996; Purdie etal. 2002).
3.4.3Educational and Classroom

Intervention
Educational and classroom intervention addresses deficient academic skills (e.g., literacy,
numeracy), classroom structure (e.g., seating,
noise levels, visual distractions), and effective
use of time (e.g., breaks between tasks, extending the time allowed on tasks and tests). Other
educational accommodations include decreased
academic workload, individualized/differentiated instruction, daily planners, reading tests
aloud, and using scribes during testsall aimed
at cultivating more facilitating academic conditions that optimize opportunities to achieve to
potential (Frame et al. 2003). At a classroom
level, intervention involves consistent and predictable daily and lesson routines, a classroom
relatively uncluttered and orderly, clear and concise instructions and requirements that do not
tax working memory, monitoring progress and
comprehension rather than waiting for requests
for assistance, proactive discipline (anticipating

problems) rather than reactive discipline (reacting to problems), and logical and measured consequences (Charles 2005; Lougy etal. 2007). Although educational and classroom intervention is
effective, relatively few studies include academic
outcome measures (DuPaul and Eckert 1997) and
so more research is needed here.
3.4.4Parental (Home-based)
Intervention
Parental intervention typically involves promoting or enhancing parenting skills, often through
parent training programs. Skills under focus predominantly involve those that can bring about
behavior change in the child. Findings suggest
parent training programs can be effective in improving parenting skills and child compliance
(Anastopoulos etal. 1991; Pisterman etal. 1989;
Purdie et al. 2002). Other work has found that
stable psychological status of the family and a
nurturing and supportive family environment
can lead to more positive adolescent outcomes
following ADHD in childhood (Barkley 1990;
Cantwell and Baker 1988; Krueger and Kendall
2001).
3.4.5Allied Health Intervention

Allied health interventions focus on promoting
healthy lifestyles and habits that individually and
cumulatively seek to assist in managing ADHD
symptoms. These include fostering healthy sleep
routines, nutrition, achieving optimal weight,
adherence to medication plans, and exercise and
physical activity (Brunette 1995; Frame et al.
2003). There tends to be less research into these
factors (Frame et al. 2003) and what research
has been conducted tends to yield mixed results
(Purdie et al. 2002). Notwithstanding this, it is
reasonable to posit that health-related intervention can establish facilitative conditions that
enhance the efficacy of other interventions that
have a broader evidence base.
55
3.4.6Combined/Multi-Modal
Intervention
Combined/multi-modal intervention involves
more than one of the aforementioned intervention approachestypically comprising stimulant medication plus one or more of behavioral,
cognitive-behavioral, parental, educational, and
allied health-related intervention. Ervin et al.
(1996) report that combined intervention is likely to lead to better outcomeshowever, others
report that combined treatment is not markedly
better than stimulant intervention alone (Abikoff
and Gittelman 1985).
3.4.7Summary of Interventions and

Treatments for ADHD Symptoms
A useful summary of ADHD interventions is that
provided by the meta-analytic work of Purdie
et al. (2002) who considered all forms of intervention against ADHD symptoms and various
academic and nonacademic outcomes. In terms
of ADHD symptoms (hyperactivity, inattention, impulsivity), and in rank order, pharmacological intervention was generally the most
effective, followed by nonacademic intervention (e.g., behavioral, social skills training) for
hyperactivity. In terms of domain-specific outcomes (behavioral, social, cognitive, personal/
emotional), and in rank order, pharmacological
(followed by combined/multimodal) intervention
was the most effective for behavioral outcomes;
combined/multi-modal (followed by pharmacological) intervention was the most effective for
social outcomes; academic (followed by pharmacological) intervention was the most effective for
cognitive outcomes; and, all five (pharmacological, academic, nonacademic, parental, and combined/multi-modal) interventions were generally
equally effective for personal/emotional (e.g.,
self-esteem) outcomes. Table3.1 also presents a
summary of major findings and synthesizes key
points in the above discussion.
56
A. J. Martin
Table 3.1 Summary of intervention for ADHD symptoms and self-worth

Target
Intervention
Examples
ADHD Symptoms
Pharmacological
Stimulant medication; organic substances; for example, fatty acids
Allied health
Diet; exercise; sleep
Behavioral
Consequences; behavior plans
Cognitive
Cognitive or brain training
Cognitive-behavioral Self-talk; self-control; self-monitoring
Educational
Tutoring in school subjects; literacy and numeracy instruction; extra
time for tasks, decreased workload
Classroom
Seating; organized environment; clear and consistent rules and
instructions; proactive discipline
Parental (home)
Parenting skills training; supportive home and family
Combined/
Various combinations of two or more of above
Multi-modal
Self-worth and PerConstructive
Adjusting rules; logistic accommodations; fair more than equal;
ceived Competence
philosophy
importance of interpersonal relationships; respect
Fear of failure
Mistakes as diagnostic feedback to improve; self-worth not tied to
academic performance
Constructive orienta- Effort leads to improvement (does not reflect on ability); quality of
tion to effort
effort may need priority at times
Competition
Focus on task at hand more than on comparative performance
Personal Bests (PBs) Strive toward own standard of excellence; Personal Best Index (PBI)
Implicit theories
Competence and skill can be developed
Balance between
Set work that is, a touch ahead of where student is at (do not dumb
challenge and skill
down work; do not assign work excessively advanced for students
current level)
Attribution retraining Emphasize effort (how hard student tries), strategy (the way student
and control
tries), and attitude (how student thinks about school, schoolwork,
and self) in academic life
Behavioral principles Applied behavior analysis (ABA); behavior intervention plans (BIP)
Academic resilience Skills and resources needed to deal with everyday academic
and buoyancy
challenges (buoyancy) and more significant academic adversity
(resilience)
Adaptability
Regulating behavior, cognition, and affect in response to new, changing, or uncertain circumstances
Connective
Interpersonal (teacher-student relationship), substantive (student conInstruction
nection to subject matter), and pedagogical (student connection to
how subject matter taught) connections in class
3.5Treatment of ADHD as Relevant

to Perceived Competence and
Self-Worth
Of particular interest in this discussion is the role
of intervention in enhancing perceived competence and self-worth for children and young people with ADHD. As with intervention and treatment for ADHD symptoms, the interventions
targeting perceived competence and self-worth
range from pharmacological through to cognitive-behavioral and educational. Additionally,
as indicated earlier, intervention for perceived

competence and self-worth also involves psychoeducational approaches. In this discussion, the
focus is on two intervention approaches: pharmacological (because this is the most common
form of intervention for ADHD) and psychoeducational (because this is the domain in which
perceived competence and self-worth are directly
located). Alongside efforts to address perceived
competence and self-worth, Bussing etal. (2000)
recommended that intervention also be aimed at
raising a childs level of functioning. In line with
this advice, the interventions described below are

aimed at addressing, developing, and sustaining
childrens perceived competence and self-worth
directly or by way of enhanced academic functioning.
3.5.1Pharmacological Intervention
and Perceived Competence and
Self-worth
To the extent that ADHD symptoms create academic difficulties that negatively impact perceived competence and self-worth, it follows
that pharmacology shown to minimize these
symptoms (Greenhill and Osman 1999; Klein
and Wander 1995; Swanson etal. 1995) may also
assist perceived competence and self-worth. Indeed, there is research to support this contention.
Medication of children and young people with
ADHD has been associated with positive shifts
in self-acceptance (Cohen and Thompson 1982).
Other work comparing medicated and nonmedicated children with ADHD demonstrated higher
levels of self-esteem in the former group (Alston
and Romney 1992; Frankel et al. 1996; Hechtman etal. 1984). Similar work found children on
stimulants reported feeling more intelligent and
more popular than children not receiving medication (Frankel etal. 1999). More nuanced research
has found moderating factors differentially affect the link between medication and perceived
competence. For example, improvements in selfesteem have been found for long-term treatment
compared to short-term treatment (Kelly et al.
1989). Additionally, Frankel etal. (1999) found
a positive correlation between dosage and selfesteem.
Frankel et al. (1999) discussed two possible
explanations for the significant effects of medication on perceived competence and self-worth.
The first is that domain-relevant behavior is
under greater control (Whalen et al. 1981); this
control leads to improved functioning and improved interactions with others (Whalen et al.
1991). Together, these have the effect of elevating a childs perceived competence and self-
57
worth. The second explanation is that medication

allows for improved internal control and internal
sensation. Because measures of self-esteem assess how one feels, higher levels of self-esteem
would be expected in medicated samples compared to unmedicated samples. In some support
of this notion is the positive correlation between
dosage and self-esteem (Frankel etal. 1999).
Notably, however, other research into the effects of medication is more equivocal. For example, although Bussing et al. (2000) did not
find reduced self-esteem associated with medicationat the same time, they did not find elevated
levels. Also, whereas DuPaul and colleagues
found low medication doses associated with
improved behavioral self-concept, most children showed no overall change in self-concept
(DuPaul etal. 1996).
3.5.2Psycho-Educational Intervention
for Perceived Competence and
Self-Worth
Researchers and theorists centrally locate perceived competence and self-worth within the
psycho-educational domain (Covington 1992;
Marsh 2007; Pintrich 2003; Schunk and Miller 2002). It follows, then, that efforts aimed at
addressing students perceived competence and
self-worth must appropriately emphasize psychoeducational intervention approaches (Martin
2005, 2008a, b; OMara et al. 2006). Here, the
intervention relevant to psycho-educational processes and constructs encompasses: constructive
philosophy towards and about ADHD; effectively dealing with fear of failure and competition;
constructive orientations toward effort; harnessing personal bests (PBs); developing adaptive
implicit theories; attaining an appropriate balance between task challenge and student skill;
attribution retraining; effective application of
behavioral principles; academic resilience and
academic buoyancy; academic adaptability; and
quality interpersonal relationships. Each of these
is discussed in turn.
58
3.5.2.1A Constructive Philosophy

Towards and About ADHD
It has been suggested that the success (or otherwise) of strategies aimed at assisting students
with ADHD is underpinned by ones philosophy toward and about ADHD and students with
ADHD. For this reason, a constructive philosophy is the first of the intervention strategies raised
here. The reality is that students with ADHD are
not always easy to manage and without a core
constructive orientation toward the condition
and students with it, the intervention is unlikely
to be optimally effective and coercive cycles of
relationships may well arise (Lougy etal. 2007;
see also Charles 2005). According to Lougy and
colleagues, a constructive philosophy toward
ADHD encompasses the following: (a) for some
students, there is a need to modify rules and make
logistic adjustments, (b) different situations may
need different rules and expectations for different
students, (c) making things fair is more important than making things equal, because different
students have different needs, (d) the squeaky
wheel does need the oil, (e) an early intervention and action approach is more effective than a
wait-to-fail approach, (f) this condition does not
define the student or his/her worth, nor does it
need to be predictive of future life effectiveness,
(g) through some common sense and minor accommodations (e.g., more desk space, more time,
more structure and clarity, and front-and-center
seating), classroom life can be much improved,
(h) the condition will not get in the way of a good
interpersonal relationship between teacher and
student, and (i) respect for the teacher is earned
through the teacher showing respect for the student.
3.5.2.2Effectively Dealing with Fear of
Failure
In many academic settings, students self-worth
is very much a function of their ability to achieve
(Covington 1992). Accordingly, as the likelihood
of poor performance increases (as is often the
case for students with ADHD in their passage
through school; Harpin 2005; Heiligenstein etal.
1999; Heiligenstein and Keeling 1995; Mariani and Barkley 1997; Pennington and Ozonoff
A. J. Martin
1996), so too does the potential threat to the students self-worth (Covington 1992; Martin and
Marsh 2003). Such conditions lay a foundation
for a fear of failure (Martin and Marsh 2003) and
in response to this fear, the students come to maneuver in maladaptive ways to protect their selfworth (Martin etal. 2001a, b, 2003).
Martin (2005) proposes two ways to address
students fear of failure. The first relates to how
mistakes, poor performance, and failure are dealt
with in the classroom. Fear of failure tends to be
low or nonexistent in contexts where students
view mistakes as important diagnostic information about how to improve next time (Covington 1998). In being oriented to mistakes in this
way, they tend not to see mistakes as reflecting
on them as a person (Martin 2001, 2002a, b,
2003; Martin and Marsh 2003). Fear of failure
can also be tackled by reducing the link between students achievement and their worth as
a person (Covington 1992, 1997; Martin 2001,
2002a, b, 2003; Martin et al. 2001a, b, 2003;
Thompson 1994). One way to do this is to emphasize effort, strategy, and attitude in students
academic lives whilst reducing the emphasis on
performance outcomes themselves. Ongoing interactions regarding academic performance can
emphasize effort, strategy, and attitude as the
key elements and not so much levels of ability.
Thus, positive performance outcomes are interpreted in terms of sufficient effort, attitude, and
strategyand negative performance outcomes
are seen in terms of insufficient effort, strategy,
and attitude. In this way, the link between ability
and performance outcomes is diminishedand
by implication, so too is the threat to self-worth.
Hence, the more educators reactions to student
achievement are confined to student behavior,
strategy, and effort (and not their ability or their
person), the less the students will feel their worth
is under threat.
3.5.2.3Constructive Orientations to
Effort
Related to this, research and theory have suggested that how hard a student tries can hold
implications for their sense of intelligence.
Hence, the application of effort can be seen by
some students as a dangerous practice because

it can imply (in their minds) that they lack ability. Research has shown that students who fail
with relatively less effort are viewed by other
students as more competent than failing students
who invest relatively more effort (Covington
1992, 1998). This raises a difficult bind because
the teachers value expenditure of effort but students see it as a potential threat to their ability
and consequent worth (Covington and Omelich
1979). This double-edged dimension of effort
holds implications for intervention. Simply asking a student to try harder may be threatening
and lead them to conclude that they lack ability. Moreover, if the student performs poorly
after expending effort, it can further erode their
perceived competence and self-worth. Instead,
focusing intervention on the quality of effort
more than the quantity of effort can be a way of
assisting students who view effort expenditure
as an ego-threatening practice (Covington 1998;
McNabb 1991); students are less inclined to see
that the quality of their effort reflects on their
ability (McNabb 1991). Thus, in the early stages
of reengaging underachieving students, focusing
on the quality of effort may be preferablewith
a view to elevating both quality and quantity of
effort as perceived competence and self-worth
find surer footing.
3.5.2.4Dealing More Effectively with

Competition
Competition is another factor that can exacerbate problematic constructions of effort and
motivation. Competition, particularly for underachieving students (such as those with ADHD),
is often feared (Martin and Marsh 2003). Covington (1992) described competition as a zerosum game: for some students to win, the others
must lose. As discussed above, losing can
reflect poorly on a students core identity and
sense of worth (Covington 1992). This touches
on a phenomenon referred to as the Big-FishLittle-Pond Effect (BFLPE) in which lower
performing students in environments reflecting
higher aggregate performance levels (e.g., a low
performing student in a high performing class
or school) can experience a decline in academic
59
self-concept (Marsh etal. 2008). Through a social comparison process, they deem themselves
inadequate compared to higher performing students in the same class or school (Marsh et al.
2006). By implication, the students with ADHD
performing at a lower level than other students
in the class may experience declines in academic
self-concept (importantly, high performing students in academically-selective schools/classes
can also experience a decline in self-concept).
However, because competition is a major pillar
of most schools and school systems, it is essential that students learn to effectively cope under
competitive regimes that will inevitably comprise some students of a higher level of academic
performance. Research suggests that students
can cope better in competitive systems through
a greater focus on the task and activity at hand
(and not on how one is competing on the task
or activity), reducing students tendency to compare themselves with others, and more personalized standards and benchmarks for excellence.
Collectively, these bring into consideration recent promising work into PBs.
3.5.2.5Harnessing Personal Bests (PBs)

A PB approach to learning involves a student
aiming to do as well or better than their previous
best. This can be in terms of a mark or it may be
a PB in the way they do things, such as being
more organized for a major assignment. Martin
(2006b) identified academic PBs as a potentially
effective means of enhancing students academic trajectories and longer term outcomesand
subsequent work has confirmed this for students
with ADHD (Martin 2012b). A four-factor PB
modelcomprising goals that are specific, challenging, competitively self-referenced, and selfimprovement focusedhas been empirically
validated (Martin 2006b). Martin also recommended use of a PB Index (PBI) when reporting to students and parents. Typically, the primary quantification of students performance
at school in a given term or year is through
their relative grading and/or ranking. That is,
their grade in Math, for example, often is determined relative to other students performance
in that subject. A sole focus on relative grading
60
immediately confines success to a handful

and relegates relatively lower performances or
failure to many, and it is through this process
that school becomes a constant sifting of winners and losersand when a student decides
that he or she is one of the losers, numerous problematic motivation dynamics can take
hold. Students with ADHD are considered part
of this problematic motivational terrain (Martin
2012b). The PBI is a personalized measure and
because of this, it is possible for a student who
had never scored high in relative terms to receive a high PBI if he or she performed better,
was more engaged in the subject, or more skillful than previously. In sum, not everyone can
be given an A in a relative grading system,
but everyone can strive for an A in their PBI.
Particularly for underachieving students such as
those with ADHD and other LD, this is vital for
a sense of academic hope and optimism (Martin
2012b). In Appendix is a sample PBI score sheet
the educators can use to quantify a students personal progress on a number of key dimensions
relevant to academic outcomes.
3.5.2.6Adjusting Students Implicit

Theories
Implicit theories refer to the beliefs the students
hold about the nature of intelligence. These implicit theories can impact perceived competence
and self-worth. Students can see intelligence as
something that is fixed or something that is incremental (Dweck 1991). To the extent that students
with ADHD see their intelligence as something
that is fixed they will feel incompetent in the
face of academic challenge and relative to their
peers. To the extent that they see intelligence as
something that can be improved upon, they will
engage more meaningfully with academic challenge and persist in the face of difficulty (Dweck
1991). Intervention, then, is directed at promoting an incremental view of intelligence. To foster
incremental views of intelligence, it is important
to communicate to students that intelligence can
be developed further. This proposition is best
tested when students are encouraged to seek
out tasks and activities that are challenging but
achievablethrough this, they develop the skills
A. J. Martin
needed to meet these challenges. When they meet

these challenges successfully and there is evidence of skill development, it is then important
for them to reflect on the lesson learntnamely, that intelligence can be developed (McNabb
1991). In the process, their level of perceived
competence is also facilitated (Martin 2005).
3.5.2.7Attaining an Appropriate
Balance Between Challenge and
Skill
Careful calibration of task challenge and student
skill is another way to reduce the frequency of
poor performance, maximize opportunities for
success, and foster adaptive levels of perceived
competence and self-worth. It has been found
that students are optimally engaged in tasks when
their level of skill appropriately matches the
task challenge. In early work, Vygotsky (1978)
defined this as the zone of proximal development. More recently, Csikszentmihalyi (1982,
1985, 1990; Jackson and Csikszentmihalyi
1999) described this as flow. Where students
skill level exceeds the task challenge, they feel
relaxed at first but soon become bored and disengaged. When the level of challenge markedly
exceeds students skill, they feel anxious. When
students skill is low and the challenge is low,
they are apathetic. It is the latter two that are particularly relevant to students with ADHD in that
(a) tasks overly exceeding the level of skill create
fear and anxiety and (b) tasks dumbed-down
that ultimately drive down a students skill, result
in meaningless academic engagement, disempowerment, and apathy.
As the framework suggests, it is fundamental
that these students are presented with challenges
that are appropriately matched to their skillideally, a touch beyond their current level of skill
(Jackson and Csikszentmihalyi 1999). As described above, PBs are an effective way of directly doing this. Essentially, PBs attain the optimal
balance between challenge and skill needed to
extend the student whilst also maximizing their
potential for academic success. Under these conditions, perceived competence, based on genuine
advancement, is potentiated.
3.5.2.8Attribution Retraining and

Enhancing Control
Attribution retraining is another means of effectively addressing perceived competence and selfworth. Attributions refer to the causes to which
individuals attribute success and failure (Weiner
1994). Of relevance to the present discussion,
causes of success and failure can be seen as internal (e.g., effort) or external (e.g., luck). Thus,
students may attribute poor performance to a lack
of effort or bad luck. Research suggests that the
attributions students make to success and failure holds implications for their motivation and
perceived competence (Weiner 1994). Interestingly, attribution research amongst students with
ADHD has assessed not only traditional academic factors such as effort, but also these students attributions to medication. Each of these is
briefly discussed.
Attribution research focusing on medication
has explored the extent to which children with
ADHD attribute academic outcomes to their
medication. Some results suggest that children
with ADHD choose medication least often (from
the available options suggested to them) as an
explanation of general success on tasks (Milich
etal. 1989; Pelham etal. 1992). In similar vein,
Ialongo et al. (1994) found little evidence that
medication resulted in a change in childrens
general attributional style (Ialongo et al. 1994).
However, other results from Treuting and Hinshaw (2001) suggest that children tend to attribute positive ADHD-related outcomes to medication and poor ADHD-related outcomes to a lack
of medication. Based on mixed findings such as
these, it has been recommended that children be
informed that medication will help functioning
but is not the only factor determining success
just as a lack of medication does not guarantee
a negative outcome (Levine 1990; Treuting and
Hinshaw 2001).
Importantly, of potentially greater importance
in Treuting and Hinshaws (2001) study was the
fact that the attributions to effort were associated
with greater self-esteem. This supports seminal
theorizing by Diener and Dweck (1978) who
emphasized personal control as a vital aspect of
61
healthy human functioning. According to Diener

and Dweck, when individuals attribute outcomes
to, for example, a lack of effort (rather than a
lack of ability), they are likely to be persistent
and motivated in the face of poor performance
and setback (see also Dweck and Leggett 1988).
Based on the Treuting and Hinshaw findings,
the interventions for ADHD that encourage students to focus on the controllable elements of
their academic life are likely to lead to greater
perceived competence and self-worth. Similarly,
Stein (1999; see also Frame etal. 2003) suggests
that assisting preadolescents to a sense of greater
personal empowerment can decrease negative
outcomes such as poor self-esteem. Also, it has
been suggested that framing ADHD as (at least in
part) a developmental disorder may have implications for personal empowerment; specifically,
implying that personal control and adaptive functioning will occur, but at a later stage relative to
age peers, may provide a sense of hope and optimism that would otherwise be absent (Krueger
and Kendell 2001).
3.5.2.9Effective Application of
Behavioral Principles
Particularly for students with ADHD, applied
behavior analysis (ABA) principles and positive
behavior interventions are relevant (Conroy etal.
2005). Predominantly based on the principles of
operant conditioning (Skinner 1974), the aim of
ABA is to influence current and future behavior
through systematic application of consequences.
The implementation of positive consequences
(positive reinforcement) renders target behavior
more likely and the withholding or removal of
positive consequences (negative reinforcement)
renders target behavior less likely. According to
ABA, the future likelihood of a behavior is determined by its past consequences. Behavior intervention plans (BIPs; Gable etal. 1998) can be
established that clearly define the behavior targeted for change, a description of the short-term
behavior change goal, a description of the longterm behavior change goal, a description of how
the behavior is to be assessed and monitored, a
clear listing of consequences tied to specific as-
62
pects of behavior, and an explanation of the roles

that relevant parties (e.g., student, teacher, school
psychologist, parents) will play in the BIP. In
many cases, this plan will be very specific and
immediate, addressing and shaping behaviors
and responses at a relatively micro level (e.g., on
a daily, hourly, or half-hourly basis). Behavioral
approaches and consequences such as these can
be particularly effective for children with ADHD
in enhancing their persistence on effortful tasks
(Carlson etal. 2000; Milich and Okazaki 1991).
3.5.2.10Promoting Academic Resilience

and Academic Buoyancy
In the face of chronic academic adversity over
the course of many school years, a good degree
of resilience will be required to remain engaged
and maintain a sense of worth and competence.
Resilience is typically defined as the capacity
to overcome acute and chronic adversities that
are seen as major assaults on the developmental
processes (e.g., see Garmezy 1981; Lindstroem
2001; Luthar 2003; Luthar and Cicchetti 2000;
Masten 2001; Werner 2000)concepts that quite
readily apply to the challenges and difficulties
facing students with ADHD in the academic domain and the need to effectively cope with these
challenges in the academic domain (referred to as
academic resilience). Consistent with Martin
and Marsh (2006, 2008a, b, 2009), it is proposed
that in addition to dealing with chronic and acute
adversities (via academic resilience), it is also
important to deal with setbacks, challenges, and
pressures that are part of everyday academic life.
These everyday challenges, Martin and Marsh
contend, reflect a need for academic buoyancy
that is, relevant to the many ups and downs of everyday school life. Indeed, work just completed
has found academic buoyancy to yield positive
engagement effects for students with ADHD
(Martin 2012a).
Work by Martin and Marsh (2006) examined
the links between academic buoyancy and a diverse range of motivation dimensions. A number
of motivational factors were identified as being
significantly associated with students academic
buoyancy. These were referred to as the 5Cs of
A. J. Martin
academic buoyancy: confidence (operationalized

by way of academic self-efficacy), coordination
(academic planning), commitment (academic
persistence), composure (low academic anxiety),
and control (perceived control in the academic
domain). In identifying these factors as predictive of academic buoyancy, Martin and Marsh
suggested them as potentially effective points for
intervention. In a subsequent study, Martin and
Marsh (2008a) also found quality interpersonal
relationships to be a factor in students academic
buoyancyindicating teacherstudent and parentchild relationships as another point of intervention for academic buoyancy and resilience
(discussed in Sect. 3.5.2.12).
3.5.2.11Developing Academic
Adaptability
Academic buoyancy and resilience are important
for successfully coping with academic adversity.
Importantly, however, there has been recent interest in positive trajectories (Bandura 2006) that
extend the resilience narrative beyond simply
coping with adversity (i.e., academic resilience
and buoyancy) to developing adaptive responses
to change and uncertainty. In the context of the
present discussion, this has the potential to take
students further by actually increasing perceived
competence and self-worth. Academic adaptability is proposed by Martin (2010) as students
adaptive regulation in the face of uncertainty,
change, or novelty. It posits that students regulation efforts take place across three core domains
of functioning: cognition, affect, and behavior.
Thus, academic adaptability is defined as students capacity to adaptively regulate cognition,
emotion, and behavior in response to new, changing, and/or uncertain conditions and circumstances (Martin 2010). Students equipped with
academic adaptability are proposed to be capable
of purposefully and successfully adjusting and/or
changing their thoughts (cognition), emotion (affect), and behavioral repertoire to evince a positive trajectory on target phenomena such as academic achievement, motivation, and engagement
(Martin 2010). Recent research has empirically
investigated academic adaptability and found it

Fig. 3.1 Connective
Instruction Model.
(Adapted with permission from A. J. Martin
(2010). Building Classroom Success. London:
Continuum)
63
The extent to which pedagogy impacts achievement, motivation, and engagement is a function
of the students personal CONNECTION to the:
1. TeacherInterpersonal Relationship (WHO)
2. Message/Content/AssessmentSubstantive Relationship (WHAT)
3. TeachingPedagogical Relationship (HOW)
STUDENTS PERSONAL CONNECTION TO:

PEDAGOGY
1. TEACHER (WHO)
2. MESSAGE/TASK (WHAT)
3. TEACHING (HOW)
significantly related to achievement, motivation

and engagement (Martin et al. in press).
3.5.2.12Quality Interpersonal
Relationshipsand
Connective Instruction
Edbom et al. (2008) report that because there
is not a straightforward link between ADHD
and self-esteem, there is a need for individualized person-centered intervention. Recent work
by Martin and colleagues (Martin and Dowson
2009; Martin et al. 2009, 2007) found interpersonal relationships as one key element significantly correlated with students academic self-efficacy and general self-esteem. In their research,
they traversed teacher, parent, and peer relationships and found that each significantly mapped
onto perceived competence and self-worth. Of
particular relevance to the present discussion
of perceived competence and self-worth in the
academic domain, the teacher-student relationships were the strongest correlate with academic
self-efficacy. This indicates its importance in intervention efforts aimed at enhancing perceived
academic competence and self-worth.
However, a major challenge for educators in
building good interpersonal relationships with
students is that they typically deal with students
in groups. Group settings make it difficult to connect individually to students, get to know them to
the extent needed for optimal achievement, and
make the necessary accommodations for students
with special needs (e.g., ADHD). Martin (2006a,
2010; see also Martin and Dowson 2009) recognized this challenge and proposed connective
ACHIEVEMENT
ENGAGEMENT
MOTIVATION
instruction as a means by which educators can

facilitate each individual students connection to
teaching and learning even though he or she is
educated in a group setting. According to Martin, the more an individual student can personally
connect to the teacher and the teaching and learning, the more motivated and engaged he or she is
likely to besee Fig.3.1. Martin further detailed
connective instruction as that which connects
to the individual student on three levels (a) the
level of substance and subject matter (what the
teacher teaches), the pedagogical level (how
the teacher teaches), and the interpersonal level
(who the teacher seeks to personally connect
with). Proposed indicators for each of these three
dimensions are presented in Table 3.2. Hence,
although originally developed to accommodate
the need for all students to meaningfully connect
with the teacher in individualized ways, connective instruction may also be an effective framework for considering the academic development,
perceived competence, and self-worth of students
with ADHD.
3.6Conclusion
Research focusing on students with ADHD identifies numerous factors underpinning their perceived academic competence and self-worth.
These factors hold direct implications for strategies practitioners can use to enhance academic
achievement, motivation, engagement, and more
positive conceptions of self (see Table3.1 for a
summary). Through genuinely addressing psy-
64
A. J. Martin
Table 3.2 Connective instruction indicators. (Adapted with permission from A. J. Martin (2010). Building classroom success. London: Continuum)
Interpersonal Relationship
(Relationship between student and
teacher)
WHO
Substantive Relationship
subject matter)
WHAT
I make an effort to listen to my

students views
I set work that is challenging but not I get students to do something well as
too difficult
much as possible and provide support
needed to do this
Where possible I set work that is
I have multiple indicators of success
important and significant
in schoolwork (marks, effort, group
work, reaching goals, improve)
I inject variety into my teaching
I provide clear feedback to students
content
focusing on how they can improve
I inject variety into my assessment
I make an effort to explain things
tasks
clearly and carefully
I provide students with interesting
I inject variety into my teaching
work
methods and reduce repetition or
monotony
I use broad and authentic (relevant
I encourage my students to learn from
and meaningful) assessment
their mistakes
I try to ensure that my teaching con- I aim for mastery by all students
tent is not boring to young people
In class and assigned work, I reduce I show students how schoolwork is
monotony as much as possible
relevant and/or meaningful
Where possible I draw on material
I make sure all students keep up with
that is fun to learn
work and give opportunities to catch
up or go over difficult work
Where possible I use material that
I dont rush my lessons or my
arouses my students curiosity
explanations
A good teacher-student relationship

is one of my priorities
I give my students input into things
and decisions that affect them
I enjoy working with young people
Where appropriate or when necessary, I try to have a sense of humor
with my students
I get to know my students
I explain the reasons for rules that
are made and enforced
I show no favoritism
I accept my students individuality
I have positive but attainable expectations for students
cho-educational, interpersonal, and academic

factors relevant to perceived competence and
self-worth, there are clear intrapsychic and educational benefits to be gained by students with
ADHDand by implication, the practitioners
seeking to improve their academic functioning.
Addressing some, most, or all of these factors
places students with ADHD in a stronger posi-
Pedagogical Relationship
teaching)
HOW
tion to achieve to their potential and feel more

positive and optimistic about learning and about
themselves.
Acknowledgments The author would like to thank Harry
Nejad for his assistance in the logistics of finalizing the
manuscript.
65
Appendix
PERSONAL BEST (PB) INDEX
(Reproduced with permission from A.J. Martin (2010). Building Classroom Success. London: Continuum)
Name
Year
Class
Date
This Terms Mark (circle one)

3 Points
Around or above previous best
2 Points
Slightly below previous best
1 Point
Well below previous best but put in reasonable effort to get this mark
0 Points
Well below previous best and put in little or no effort to get this mark
This Terms Enthusiasm/Engagement/Attitude (circle one)

3 Points
2 Points
1 Point
Well below previous best but put in reasonable effort to get involved
0 Points
Well below previous best and put in little or no effort to get involved
Skills/Competencies Developed This Term (circle one)

3 Points
2 Points
1 Point
Well below previous best but put in reasonable effort to develop skills
0 Points
Well below previous best and put in little or no effort to develop skills
Golden Point (circle if applicable to this student)

1 Point
This term this student was committed to personal excellence
TOTAL PB INDEX
/ 10
(Previous PB Index
/ 10)
This student can get closer to his/her PB by:

0-3 Points
Overall, well below Personal Best
1.
4-6 Points
2.
Overall, below Personal Best
7-9 Points
This student can sustain his/her PB by:
Overall, around or above Personal Best

1.
10 Points
Achieved personal excellence
2.
66
References
Abikoff, H., & Gittelman, R. (1985). Hyperactive children
treated with stimulants: Is cognitive training a useful
adjunct? Archives of General Psychiatry, 42, 953961.
Alston, C. Y., & Romney, D. M. (1992). A comparison
of medicated and nonmedicated attention-deficit disordered hyperactive boys. Acta Paedopsychiatrica:
International Journal of Child Adolescent Psychiatry,
55, 6570.
American Psychiatric Association. (1994). Diagnostic
and statistical manual of mental disorders, revised
(4th ed.). Washington: APA.
Anastopoulos, A. D., DuPaul, G. J., Barkley, R. A. (1991).
Stimulant medication and parent training therapies for
attention-deficit hyperactivity disorder. Journal of
Learning Disabilities, 24, 210218.
Angold, A. E., Costello, J., Erkanli, A. (1999). Comorbidity. Journal of Child Psychology and Psychiatry, 40,
5787.
Bandura, A. (1986). Social foundations of thought and
action: A social cognitive theory. Englewood Cliffs:
Prentice Hall.
Bandura, A. (1997). The exercise of control. New York:
W. H. Freeman & Company.
Bandura, A. (2006). Adolescent development from an
agentic perspective. In F. Pajares & T. Urdan (Eds).
Self-efficacy beliefs. CO: Information Age Press.
Barkley, R. A. (1985). The family interactions of hyperactive children: Precursors to aggressive behavior? In D.
Routh & M. Woolraich (Eds.), Advances in behavioral
pediatrics (pp. 117150). Greenwich: JAI Press.
Barkley, R. A. (1990). Attention deficit hyperactivity disorder: A handbook for diagnosis and treatment. New
York: Guilford Press.
Barkley, R. A. (1997a). Attention-deficit/hyperactivity
disorder, self-regulation, and time: Toward a more
comprehensive theory. Journal of Developmental and
Behavioral Pediatrics, 18, 271279.
Barkley, R. A. (1997b). Behavioral inhibition, sustained
attention, and executive functions: Constructing a unifying theory of ADHD. Psychological Bulletin, 121,
6594.
Barkley, R. A. (1998). Attention-deficit hyperactivity disorder: A handbook for diagnosis and treatment (2nd
ed.). New York: Guilford Press.
Barkley, R. A., Fischer, M., Edelbrock, C., Smallish, L.
(1990). The adolescent outcome of hyperactive children diagnosed by research criteria: I. An 8-year prospective follow up study. Journal of the American
Academy of Child and Adolescent Psychiatry, 29,
546557.
Barkley, R. A., Murphy, K., Kwasnik, D. (1996). Psychological adjustment and adaptive impairments in young
adults with ADHD. Journal of Attention Disorders, 1,
4154.
Bennett, F. C., Brown, R. T., Craver, T., Anderson, D.
(1999). Stimulant medication for the child with
ADHD. Pediatric Clinics of North America, 46,
929944.
A. J. Martin
Bertot, P. (2002). A comparison of psychological distress
profiles of college students with learning disabilities
and attention deficit hyperactivity disorder as compared to college students with no disabilities. Dissertation Abstracts International Section A: Humanities
and Social Sciences, 62(9-A), 3012.
Blackman, G. L., Ostrander, R., Herman, K. C. (2005).
Children with ADHD and depression: A multisource,
multimethod assessment of clinical, social, and academic functioning. Journal of Attention Disorders, 8,
195207.
Breggin, P. R. (1998). Talking back to Ritalin: What doctors are not telling you about stimulants for children.
Monroe: Common Courage Press.
Breggin, P. R. (1999). Reclaiming our children: A healing
plan for a nation in crisis. Cambridge: Perseus Books.
Brunette, E. (1995). Management of ADHD in the school
setting: A case study. Journal of School Nursing, 11,
3338.
Bussing, R., Zima, B. T., Perwien, A. R. (2000). Selfesteem in special education children with ADHD:
Relationship to disorder characteristics and medication use. Journal of the American Academy of Child
and Adolescent Psychiatry, 39, 10, 12601269.
Cantwell, D. P. (1996). Attention deficit disorder: A
review of the past 10 years. Journal of the American
415421.
Cantwell, D. P., & Baker, L. (1988). Issues in the classification of child and adolescent psychopathology. Journal of the American Academy of Child and Adolescent
Psychiatry, 27, 521533.
Cantwell, D. P., & Baker, L. (1991). Association between
attention deficit hyperactivity disorder and learning
disorder. Journal of Learning Disabilities, 24, 8895.
Carlson, C. L., Mann, M., Alexander, D. K. (2000).
Effects of reward and response cost on the performance and motivation of children with ADHD. Cognitive Therapy and Research, 24, 8798.
Carmichael, P., Adkins, Gaal, I., Hutchins, P., Levey, F.,
McCormack, J., Oberklaid, F., Pearson, C., Storm, V.
(1997). Attention deficit hyperactivity disorder. Australia: National Health and Medical Research Council.
Chapman, J. W. (1988). Learning disabled childrens
self-concepts. Review of Educational Research, 58,
347371.
Charles, C. M. (2005). Building classroom discipline.
Boston: Allyn & Bacon/Pearson.
Cicchetti, D., & Toth, S. L. (1995). Developmental psychopathology and disorders of affect. In D. Cicchetti
& D. J. Cohen (Eds.), Developmental psychopathology: Risk, disorder, and adaptation (pp.369420, Vol.
2). New York: Wiley.
Cohen, N. J., & Thompson, L. (1982). Perceptions and
attitudes of hyperactive children and their mothers
regarding treatment with methylphenidate. Canadian
Journal of Psychiatry, 27, 4042.
Colvin, C. R., Block, J., Funder, D. C. (1995). Overly
positive self-evaluations and personality: Negative
implications for mental health. Journal of Personality
and Social Psychology, 68, 11521162.

Conroy, M. A., Dunlap, G., Clarke, S., Alter, P. J. (2005).
A descriptive analysis of positive behavioral intervention research with young children with challenging
behavior. Topics in Early Childhood Special Education, 25, 157166.
Coplin, J. W., & Morgan, S. B. (1988). Learning disabilities: A multidimensional perspective. Journal of
Learning Disabilities, 21, 614623.
Covington, M. V. (1992). Making the grade: A self-worth
perspective on motivation and school reform. Cambridge: Cambridge University Press.
Covington, M. V. (1997). A motivational analysis of academic life in college. In R. P. Perry & J. C. Smart (Eds.).
Effective teaching in higher education: Research and
practice. New York: Agathon Press. Republished from
Covington, M. V. (1993). A motivational analysis of
academic life in college. Higher education: Handbook
of theory and research. New York: Agathon Press.
Covington, M. V. (1998). The will to learn: A guide for
motivating young people. New York: Cambridge University Press.
Covington, M. V., & Omelich, C. L. (1979). Effort: The
double-edged sword in school achievement. Journal
of Educational Psychology, 71, 169182.
Crystal, D. S., Ostrander, R., Chen, R. S., August, G. J.
(2001). Multimethod assessment of psychopathology among DSM-IV subtypes of children and teacher
reports. Journal of Abnormal Child Psychology, 29,
189205.
Csikszentmihalyi, M. (1982). Toward a psychology of
optimal experience. In L. Wheeler (Ed.), Review of
personality & social psychology (pp.1336). Beverly
Hills: Sage.
Csikszentmihalyi, M. (1985). Reflections on enjoyment.
Perspectives in Biology and Medicine, 28, 489497.
Csikszentmihalyi, M. (1990). Flow: The psychology of
optimal experience. New York: Harper & Row.
Damico, S. K., & Armstrong, M. B. (1996). Intervention
strategies for students with ADHD: Creating a holistic approach. Seminars in Speech and Language, 17,
2135.
Deci, E. L., & Ryan, R. M. (2000). The darker and brighter
sides of human existence: Basic psychological needs
as a unifying concept. Psychological Inquiry, 11,
319338.
DeGrandpre, R. (2000). Ritalin nation: Rapid-fire culture
and the transformation of human consciousness. New
York: Norton & Company.
Diener, C. I., & Dweck, C. S. (1978). An analysis of
learned helplessness: Continuous changes in performance, strategies, and achievement cognitions following failure. Journal of Personality and Social Psychology, 36, 451462.
Diller, L. (1998). Running on Ritalin: A physician reflects
on children, society, and performance in a pill. New
York: Bantam.
Dooling-Litfin, J. K., & Rosen, L. A. (1997). Self-esteem
in college students with a childhood history of attention deficit hyperactivity disorder. Journal of College
Student Psychotherapy, 11, 6982.
67
Douglas, V. I. (1983). Attention and cognitive problems.

In M. Rutter (Ed.), Behavioral syndromes of brain
dysfunction in childhood. New York: Guilford Press.
Douglas, V. I. (1985). The response of ADD children to
reinforcement: Theoretical and clinical implications.
In L. Bloomingdale (Ed.), Attention deficit disorder: identification, course, and rationale. New York:
Spectrum.
Dumas, D., & Pelletier, L. (1999). Perception in hyperactive children. American Journal of Maternal Child
Nursing, 24, 1219.
DuPaul, G. J., & Eckert, T. L. (1997). School-based interventions for children with attention-deficit/hyperactivity disorder: A meta-analysis. School Psychology
Review, 26, 527.
DuPaul, G. J., Anastopoulos, A. D., Kwasnik, D., Barkley, R. A., McMurray, M. B. (1996). Methylphenidate
effects on children with attention deficit hyperactivity
disorder: Self-report of symptoms, side-effects, and
self-esteem. Journal of Attention Disorders, 1, 315.
Durrant, J. E., Cunningham, C. E., Voelker, S. (1990).
Academic, social, and general self-concepts of behavioral sub-groups of learning disabled children. Journal
of Educational Psychology, 82, 657663.
Dweck, C. S. (1991). Self-theories and goals: Their role
in motivation, personality, and development. In R. A.
Dienstbier (Ed.), Perceptions on motivation: Nebraska
symposium on motivation (Vol. 38). Lincoln: University of Nebraska Press.
Dweck, C. S., & Leggett, E. L. (1988). A social-cognitive
approach to motivation and personality. Psychological
Review, 95, 256273.
Eccles, J. (1983). Expectancies, values, and academic
behavior. In J. Spence (Ed.), Achievement and achievement motivation. San Francisco: Freeman.
Eccles, J. S., Wigfield, A., Harold, R. D., Blumenfeld, P.
(1993). Age and gender differences in childrens selfand task perceptions during elementary school. Child
Development, 64, 830847.
Edbom, T., Granlund, M., Lichtenstein, P., Larsson, J.
O. (2008). ADHD symptoms related to profiles of
self-esteem in a longitudinal study of twins. Journal
of Child and Adolescent Psychiatric Nursing, 21,
228237.
Edens, J. F. (1999). Aggressive childrens self-systems
and the quality of their relationships with significant
others. Aggression and Violent Behavior, 4, 151177.
Emery, E. M., McDermott, R. J., Holcomb, D. R., Marty,
P. J. (1993). The relationship between youth substance
use and area-specific self-esteem. Journal of School
Health, 63, 224228.
Ervin, R. A., Bankert, C. L, DuPaul, G. J. (1996). Treatment of attention-deficit/hyperactivity disorder. In M.
A. Reinecke & F. M. Dattilio (Eds.), Cognitive therapy
with children and adolescents: A casebook for clinical
practice (pp.3861). New York: Guilford Press.
Fergusson, D., Lynskey, M., Horwood, L. (1996). Factors
associated with continuity and changes in disruptive
behavior patterns between childhood and adolescence.
Journal of Abnormal Child Psychology, 24, 533551.
68
Fiore, T. A., Becker, E. A., Nero, R. C. (1993). Educational interventions for students with attention deficit
disorder. Exceptional Children, 60, 163173.
Frame, K., Kelly, L., Bayley, E. (2003). Increasing perceptions of self-worth in preadolescents diagnosed
with ADHD. Journal of Nursing Scholar, 35, 225229.
Frankel, F., Cantwell, D., Myatt, B., Feinberg, D. (1996).
ADHD children taking stimulants have higher selfesteem. 43rd Annual Meeting of the American Academy of Child and Adolescent Psychiatry. Philadelphia.
Frankel, F., Cantwell, D., Myatt, R., Feinberg, D. T.
(1999). Do stimulants improve self-esteem in children
with ADHD and peer problems? Journal of Child and
Adolescent Psychopharmacology, 9, 185194.
Gable, R. A., Quinn, M. M., Rutherford, R. B., Howell, K.
W. (1998). Addressing problem behavior in schools:
Functional behavioral assessment and behavioral
intervention plans. Preventing School Failure, 42,
106119.
Garmezy, N. (1981). Children under stress: Perspectives on antecedents and correlates of vulnerability
and resistance to psychopathology. In A. I. Rabin, J.
Aronoff, A. Barclay, & R. A. Zucker (Eds.), Further
explorations in personality (pp.196269). New York:
Wiley.
Gaub, M., & Carlson, C. L. (1997). Gender differences in
ADHD: A meta-analysis and critical review. Journal
of American Academy of Child and Adolescent Psychiatry, 36, 10361045.
Gordon, W. R., & Caltabiano, M. L. (1996). Urban-rural
differences in adolescent self-esteem, leisure boredom, and sensation seeking as predictors of leisure
time usage and satisfaction. Adolescent, 31, 883901.
Greenhill, L. L., & Osman, B. O. (1999). Ritalin: Theory
and patient management (2nd ed.). New York: Mary
Ann Liebert.
Greenwald-Mayes, G. (2002). Relationship between current quality of life and family of origin dynamics for
college students with attention-deficit hyperactivity
disorder. Journal of Attention Disorders, 5, 211222.
Gresham, F. M., Lane, K. L., MacMillan, D. L., Bocian,
K. M., Ward, S. L. (2000). Effects of positive and negative illusory biases: Comparisons across social and
academic self-concept domains. Journal of School
Psychology, 38, 151175.
Hallahan, D. P. (1989). Attention disorders: Specific
learning disabilities. In T. Husen & T. N. Postlethwait
(Eds.), The international encyclopaedia of education: Research and studies (pp. 9899). New York:
Pergamon.
Harpin, V. A. (2005). The effect of ADHD on the life of
an individual, their family, and community from preschool to adult life. Archives of Disease in Childhood,
90, 27.
Harter, S. (1982). The perceived competence scale for
children. Child Development, 53, 8797.
Harter, S. (1993). Causes and consequences of low selfesteem in children and adolescents. In R. F. Baumeister (Ed.), Self-esteem: The puzzle of low self-regard
(pp.87116). New York: Plenum.
A. J. Martin
Harter, S. (1999). The construction of the self: A developmental perspective. New York: Guilford.
Harter, S., & Whitesell, N. R. (1989). Developmental
changes in childrens understanding of single, multiple and blended emotion concepts. In C. Saarni &
P. L. Harris (Eds.), Childrens understanding of emotion (pp.81116). Cambridge: Cambridge University
Press.
Harter, S., Whitesell, N. R., Junkin, L. J. (1998). Similarities and differences in domain specific and global
self-evaluations of learning disabled, behaviorally disordered, and typically achieving adolescents. American Educational Research Journal, 35, 653680.
Hechtman, L., Weiss, G., Perlman, T. (1980). Hyperactives as young adults: Self-esteem and social skills.
Canadian Journal of Psychiatry, 25, 478483.
Hechtman, L., Weiss, G., Perlman, T. (1984). Young adult
outcome of hyperactive children who received longterm stimulant treatment. Journal of American Academy of Child and Adolescent Psychiatry, 23, 261269.
Heiligenstein, E., & Keeling, R. P. (1995). Presentation
of unrecognized attention deficit hyperactivity disorder in college students. Journal of American College
Health, 43, 226228.
Heiligenstein, E., Guenther, G., Levy, A., Savino. F.,
Fulwiler, J. (1999). Psychological and academic
functioning in college students with attention deficit
hyperactivity disorder. Journal of American College
Health, 47, 181185.
Hinshaw, S. P. (1994). Attention deficits and hyperactivity
in children. Thousand Oaks: Sage.
Hoagwood, K., Kelleher, K., Feil, M., Comer, D. (2000).
Treatment services for Children with ADHD: A
national perspective. Journal of American Academy of
Child and Adolescent Psychiatry, 39, 198206.
Holmes, J., Gathercole, S. E., Place, M., Dunning, D. L.,
Hilton, K. A., Elliott, J. G. (2009). Working memory
deficits can be overcome: Impacts of training and
medication on working memory in children with
ADHD. Applied Cognitive Psychology. doi: 10.1002/
acp. 1589.
Hoza, B., Gerdes, A. C., Hinshaw, S. P., Arnold, L. E.,
Pelham, W. E., Molina, B. S. G., Abikoff, H. B.,
Epstein, J. N., Greenhill, L. L., Hechtman, L., Odbert,
C., Swanson, J. M., Wigal, T. (2004). Self-perceptions
of competence in children with ADHD and comparison children. Journal of Consulting and Clinical Psychology, 72, 382391.
Hoza, B., Pelham, W. E., Dobbs, J., Owens, J. S., Pillow,
D. R. (2002). Do boys with attention-deficit/hyperactivity disorder have positive illusory self-concepts?
Journal of Abnormal Psychology, 111, 268278.
Hoza, B., Pelham, W. E., Milich, R., Pillow, D., McBride,
K. (1993). The self-perceptions and attributions of
attention deficit hyperactivity disordered and nonreferred boys. Journal of Abnormal Child Psychology,
21, 271286.
Hunt, R., Hoehn, R., Stephens, K., Osten, C. (1994).
Clinical patterns of ADHD: A treatment model based

on brain functioning. Comprehensive Therapy, 20,
106112.
Hynd, G. W., Hern, K. L., Voeller, K. K., Marshall, R.
M. (1991). Neurobiological basis of attention deficit
hyperactivity disorder (ADHD). School Psychology
Review, 20, 174186.
Ialongo, N. S., Lopez, M., Horn, W. F., Pascoe, J. M.,
Greenberg, G. (1994). Effects of psychostimulant
medication on self-perceptions of competence, control, and mood in children with attention deficit
hyperactivity disorder. Journal of Clinical Child Psychology, 23, 161173.
Jackson, S. A., & Csikszentmihalyi, M. C. (1999). Flow
in sports: The keys to optimal experiences and performances. Champaign: Human Kinetics.
Kelly, P. C., Cohen, M. L., Walker, W. O., Caskey, O. L.,
Atkinson, A. W. (1989). Self-esteem in children medically managed for attention deficit disorder. Pediatrics, 83, 211217.
Kendall, J. (2000). Outlasting disruption: The process of
reinvestment in families with ADHD children. Qualitative Health Research, 8, 839857.
Kewley, G. D. (1999). Attention deficit hyperactivity disorder: Recognition, reality and resolution. London:
David Fulton Publishers.
Klein, R. G., & Wender, P. (1995). The role of methylphenidate in psychiatry. Archives of General Psychiatry,
52, 429433.
Krueger, M., & Kendall, J. (2001). Descriptions of self an
exploratory study of adolescents with ADHD. Journal of Child and Adolescent Psychiatric Nursing, 14,
6172.
Landau, S., Milich, R., Widiger, T. A. (1991). Conditional
probabilities of child interview symptoms in the diagnosis of attention deficit disorder. Journal of Child
Psychology and Psychiatry, 32, 501513.
Levine, M. (1990). Keeping a head in school. Cambridge:
Educators Publishing Service.
Lewinsohn, P. M., Rohde, P., Seeley, J. R. (1993). Psychosocial characteristics of adolescents with a history of
suicide attempt. Journal of the American Academy of
Lindstroem, B. (2001). The meaning of resilience. International Journal of Adolescent Medicine and Health,
13, 712.
Loeber, R., Green, S. M., Lahey, B. B., Stouthamer-Loeber, M. (1991). Differences and similarities between
children, mothers, and teachers as informants on disruptive child behavior. Journal of Abnormal Child
Lougy, R., DeRuvo, S., Rosenthal, D. (2007). Teaching
young children with ADHD. Thousand Oaks: Corwin
Press.
Luthar, S. S. (2003) (Ed.) Resilience and vulnerability.
Cambridge University Press. Cambridge.
Luthar, S. S., & Cicchetti, D. (2000). The construct of
resilience: Implications for interventions and social
policies. Development and Psychopathology, 12,
857885.
69
MacLeod, D., & Prior, M. (1996). Attention deficits in

adolescents with ADHD and other clinical groups.
Child Neuropsychology, 2, 110.
Mannuzza, S., & Klein, R. G. (2000). Long-term prognosis in attention-deficit/hyperactivity disorder. Child
and Adolescent Psychiatrics Clinics of North America,
9, 711726.
Mannuzza, S., Klein, R., Bonagura, N., Konig, P., Shenker, R. (1988). Hyperactive boys almost grown up:
Status of subjects without a mental disorder. Archives
of General Psychiatry, 45, 1318.
Mariani, M., & Barkley, R. A. (1997). Neuropsychological and academic functioning in preschool children
with attention deficit hyperactivity disorder. Development and Neuropsychology, 13, 111129.
Marks, D. (1999). Disability: Controversial debates and
psychosocial perspectives. London: Routledge.
Marsh, H. W. (2007). Self-concept theory, measurement
and research into practice: The role of self-concept
in educational psychology. Leicester: British Psychological Society.
Marsh, H. W., Cheng, J., Martin, A. J. (2008). How we
judge ourselves from different perspectives: Contextual influences on self-concept formation. In M.
Maehr, T. Urdan, & S. Karabenick (Eds.). Advances
in motivation and achievement (Vol. 15). New York:
Elsevier.
Marsh, H. W., Craven, R. G., Martin, A. J. (2006). What
is the nature of self-esteem? Unidimensional and multidimensional perspectives. In M. Kernis (Ed). Selfesteem: Issues and Answers. New York: Psychology
Press.
Martin, A. J. (2001). The student motivation scale: A tool
for measuring and enhancing motivation. Australian
Journal of Guidance and Counselling, 11, 120.
Martin, A. J. (2002a). Motivation and academic resilience: Developing a model of student enhancement.
Australian Journal of Education, 46, 3449.
Martin, A. J. (2002b). The lethal cocktail: Low self-belief,
low control, and high fear of failure. Australian Journal of Guidance Counseling, 12, 7485.
Martin, A. J. (2003). The student motivation scale: Further testing of an instrument that measures school students motivation. Australian Journal of Education,
47, 88106.
Martin, A. J. (2005). Exploring the effects of a youth
enrichment program on academic motivation and
engagement. Social Psychology of Education, 8,
179206.
Martin, A. J. (2006a). Pastoral pedagogy: A great composition comprising the song, the singer, and the singing.
Educational Resources Information Center Document
(ED) 490483. US Department of Education.
Martin, A. J. (2006b). Personal bests (PBs): A proposed
multidimensional model and empirical analysis. British Journal of Educational Psychology, 76, 803825.
Martin, A. J. (2007). Examining a multidimensional
model of student motivation and engagement using a
construct validation approach. British Journal of Educational Psychology, 77, 413440.
70
Martin, A. J. (2008a). Enhancing student motivation and
engagement: The effects of a multidimensional intervention. Contemporary Educational Psychology, 33,
239269.
Martin, A. J. (2008b). How domain specific are motivation and engagement across school, sport, and music?
A substantive-methodological synergy assessing
young sportspeople and musicians. Contemporary
Educational Psychology, 33, 785813.
Martin, A. J. (2010). Building classroom success: Eliminating academic fear and failure. London: Continuum.
Martin, A. J. (2012a). Academic Buoyancy, Academic
Outcomes, and ADHD: Investigating At-Risk Students Responses to Academic Setback and Adversity.
Submitted for publication.
Martin, A. J. (2012b). The role of Personal Best (PB)
goals in the achievement and behavioral engagement
of students with ADHD and students without ADHD.
Contemporary Educational Psychology, 37, 91105.
Martin, A. J., & Dowson, M. (2009). Interpersonal relationships, motivation, engagement, and achievement:
Yields for theory, current issues, and practice. Review
of Educational Research, 79, 327365.
Martin, A. J., Nejad, H., Colmar, S., & Liem, G. A. D.
(in press). Adaptability: Conceptual and empirical
perspectives on responses to change, novelty and
uncertainty. Australian Journal of Guidance and
Counselling.
Martin, A. J. & Marsh, H. W. (2003). Fear of failure:
Friend or foe? Australian Psychology, 38, 3138.
Martin, A. J., & Marsh, H. W. (2006). Academic resilience and its psychological and educational correlates: A construct validity approach. Psychology in the
Schools, 43, 267282.
Martin, A. J., & Marsh, H. W. (2008a). Academic buoyancy: Towards an understanding of students everyday
academic resilience. Journal of School Psychology,
46, 5383.
Martin, A. J., & Marsh, H. W. (2008b). Workplace and
academic buoyancy: Psychometric assessment and
construct validity amongst school personnel and students. Journal of Psychoeducational Assessment, 26,
168184.
Martin, A. J., & Marsh, H. W. (2009). Academic resilience
and academic buoyancy: Multidimensional and hierarchical conceptual framing of causes, correlates, and
cognate constructs. Oxford Review of Education, 35,
353370.
Martin, A. J. Marsh, H. W., Debus, R. L. (2001a). A
quadripolar need achievement representation of selfhandicapping and defensive pessimism. American
Educational Research Journal, 38, 583610.
Martin, A. J. Marsh, H. W., Debus, R. L. (2001b). Selfhandicapping and defensive pessimism: Exploring a
model of predictors and outcomes from a self-protection perspective. Journal of Educational Psychology,
93, 87102.
Martin, A. J. Marsh, H. W., Debus, R. L. (2003). Selfhandicapping and defensive pessimism: A model of
A. J. Martin
self-protection from a longitudinal perspective. Contemporary Educational Psychology, 28, 136.
Martin, A. J., Marsh, H. W., McInerney, D. M., Green,
J. (2009). Young peoples interpersonal relationships
and academic and non-academic outcomes: The relative salience of teachers, parents, same-sex peers, and
opposite-sex peers. Teachers College Record, March,
http://www.tcrecord.org.
Martin, A. J., Marsh, H. W., McInerney, D. M., Green, J.,
Dowson, M. (2007). Getting along with teachers and
parents: The yields of good relationships for students
achievement motivation and self-esteem. Australian
Journal of Guidance and Counselling, 17, 109125.
Martin, A. J., Marsh, H. W., Williamson, A., Debus, R.
L. (2003). Self-handicapping, defensive pessimism,
and goal orientation: A qualitative study of university students. Journal of Educational Psychology, 95,
617628.
Masten, A. S. (2001). Ordinary magic: Resilience processes in development. American Psychologist, 56,
227238.
Mayes, R., Bagwell, C., Erkulwater, J. (2009). Medicating children: ADHD and pediatric mental health. Harvard: Harvard University Press.
McKinney, J. D., Montague, M., Hocutt, A. M. (1993).
Educational assessment of students with attention
deficit disorder. Exceptional Children, 60, 125131.
McNabb, T. (1991). From potential to performance: Motivational issues for gifted students. In N. Colangelo
& G. A. Davis (Eds). Handbook of gifted education.
London: Allyn & Bacon.
Milich, R., & Greenwell, L. (1991). An examination of
learned helplessness among attention-deficit hyperactivity disordered boys. In B. Hoza & W. E. Pelham
(Chairs), Cognitive Biases as Mediators of Childhood Disorders: What do we know? Symposium presented at the annual meeting of the Association for the
Advancement of Behavior Therapy, New York.
Milich, R., & Okazaki, M. (1991). An examination of
learned helplessness among attention deficit hyperactivity disordered boys. Journal of Abnormal Child
Milich, R., Licht, B. G., Murphy, D. A., Pelham, W. E.
(1989). Attention deficit hyperactivity disordered
boys evaluations of and attributions for task performance on medication versus placebo. Journal of
Abnormal Psychology, 98, 280284.
Moore, S., Laflin, M. T., Weis, D. L. (1996). The role of
cultural norms in the self-esteem and drug use relationship. Adolescent, 31, 523542.
Murphy, K., & Barkley, R. A. (1996). Attention deficit
hyperactivity disorder in adults: Comorbidities and
adaptive impairments. Comprehensive Psychiatry, 37,
393401.
Norvell, N., & Towle, P. OB. (1986). Self-reported
depression and observable conduct problems in
children. Journal of Clinical Child Psychology, 15,
228232.
Ohan, J. L., & Johnston, C. (2002). Are the performance
overestimates given by boys with ADHD self-pro-

tective? Journal of Clinical Child Psychology, 31,
230241.
Ollendick, T. H., & King, N. J. (1994). Diagnosis, assessment, and treatment of internalizing problems in
children: The role of longitudinal data. Journal of
Consulting and Clinical Psychology, 62, 918927.
OMara, A. J., Marsh, H. W., Craven, R. G., Debus, R. L.
(2006). Do self-concept interventions make a difference? A synergistic blend of construct validation and
Meta-Analysis. Educational Psychology, 41, 181206.
Oosterlaan, J., & Sergeant, J. A. (1998). Effects of reward
and response cost on response inhibition in AD/HD,
disruptive, anxious, and normal children. Journal of
Abnormal Child Psychology, 26, 161174.
Ostrander, R., Crystal, D. S., August, G. (2006). Attention deficit-hyperactivity disorder, depression, and
self- and other-assessments of social competence: A
developmental study. Journal of Abnormal Child Psychology, 34, 773787.
Pelham, W. E., & Hoza, J. (1987). Behavioral assessment of psychostimulant effects on ADHD children in
a summer day treatment program. In R. Prinz (Ed.),
Advances in behavioral assessment of children and
families (Vol. 3, pp.333). Greenwich: JAI Press.
Pelham, W. E., Murphy, D. A., Vannatta, K., Milich, R.,
Licht, B. G., Gnagy, E. M., Greenslade, K. E., Greiner,
A. R., Vodde-Hamilton, M. (1992). Methylphenidate
and attributions in boys with attention-deficit hyperactivity disorder. Journal of Consulting and Clinical
Pennington, B. F., & Ozonoff, S. (1996). Executive functions and developmental psychopathology. Journal of
Child Psychology and Psychiatry, 37, 5187.
Pintrich, P. R. (2003). A motivational science perspective
on the role of student motivation in learning and teaching contexts. Journal of Educational Psychology, 95,
667686.
Pisecco, S., Baker, D. B., Silva, P. A., Brooke, M. (1996).
Behavioral distinctions in children with reading disabilities and/or ADHD. Journal of the American
14771484.
Pisecco, S., Wristers, K., Swank, P., Silva, P. A., Baker,
D. B. (2001). The effect of academic self-Concept on
ADHD and antisocial behaviors in early adolescence.
Journal of Learning Disabilities, 34, 450461.
Pisterman, S., McGrath, P., Firestone, P., Goodman, J. T.
(1989). Outcome of parent mediated treatment of preschoolers with attention deficit disorder with hyperactivity. Journal of Consulting and Clinical Psychology,
57, 628635.
Purdie, N., Hattie, J., Carroll, A. (2002). A review of the
research on interventions for Attention Deficit Hyperactivity Disorder: What works best? Review of Educational Research, 72, 6199.
Rapport, M. D., Carlson, G. A., Kelly, K. L., Pataki, C.
(1993). Methylphenidate and desipramine in hospitalized children: I. Separate and combined effects on
cognitive function. Journal of the American Academy
of Child and Adolescent Psychiatry, 32, 333342.
71
Reason, R. (1999). ADHD: A psychological response to

an evolving concept (Report of the working party of
the British Psychological Society). Journal of Learning Disabilities, 32, 8591.
Richardson, A. J., & Montgomery, P. (2005). The OxfordDurham Study: A randomized controlled trial of
dietary supplementation with fatty acids in children
with developmental coordination disorder. Pediatrics,
115, 13601366.
Robin, A. (1999). Attention deficit hyperactivity disorder
in adolescents. Pediatric Clinics of North America, 46,
10271038.
Robins, P. M. (1992). A comparison of behavioral and
attentional functioning in children diagnosed as hyperactive or learning disabled. Journal of Abnormal Child
Sagvolden, T., & Archer, T (Eds.) (1989). Attention deficit disorder: Clinical and basic research. Hillsdale:
Erlbaum.
Schunk, D. H., & Miller, S. D. (2002). Self-efficacy and
adolescents motivation. In F. Pajares & T. Urdan
(Eds). Academic motivation of adolescents. Connecticut: Information Age Publishing.
Shaw-Zirt, B., Popali-Lehane, L., Chaplin, W., Bergman,
A. (2005). Adjustment, social skills, and self-esteem
in college students with symptoms of ADHD. Journal
of Attention Disorders, 8, 109120.
Sinn, N., & Bryan, J. (2007). Effect of supplementation
with polyunsaturated fatty acids and micronutrients on
learning and behavior problems associated with child
ADHD. Journal of Developmental Behavioral Pediatrics, 28, 8291.
Skinner, B. F. (1974). About behaviorism. New York:
Knopf.
Slomkowski, C., Klein, R. G., Mannuzza, S. (1995). Is
self-esteem an important outcome in hyperactive
children? Journal of Abnormal Child Psychology, 23,
303315.
Stein, D. B. (1999). Ritalin is not the answer: A drug-free,
practical program for children diagnosed with ADD
or ADHD. San Francisco: Jossey-Bass.
Swanson, J. M., McBurnett, K., Wigal, T., Pfiffner, L. J.,
Lerner, M. A., Williams, L., Christian, D. L., Tamm,
L., Willcutt, E., Crowley, K., Clevenger, W., Khouzam, N., Woo, C., Crinella, F. M., Fisher, T. D. (1993).
Effect of stimulant medication on children with attention deficit disorder: A review of reviews. Exceptional Children, 60, 154161.
Swanson, J. M., McBurnett, K., Christian, D. L., Wigal,
T. (1995). Stimulant medications and the treatment of
children with attention deficit hyperactivity disorder.
Advances in Clinical Child Psychology, 17, 265322.
Tabassam, W., & Grainger, J. (2002). Self-Concept, attributional style and self-efficacy beliefs of students with
learning disabilities with and without attention deficit
hyperactivity disorder. Learning Disability Quality,
25, 141151.
Taylor, S. E., & Brown, J. D. (1988). Illusion and wellbeing: A social psychological perspective on mental
health. Psychological Bulletin, 103, 193210.
72
Thompson, T. (1994). Self-worth protection: Review and
implications for the classroom. Education Review, 46,
259274.
Treuting, J. J., & Hinshaw, S. P. (2001). Depression and
self-esteem in boys with attention-deficit/Hyperactivity disorder: Associates with comorbid aggression
and explanatory attributional mechanisms. Journal of
Abnormal Child Psychology, 29, 2339.
Vygotsky, L. S. (1978). Mind in society: the development
of higher psychological processes. Cambridge: Harvard University Press.
Wagner, B. (2000). Attention deficit hyperactivity disorder: Current concepts and underlying mechanisms.
Journal of Child and Adolescent Psychiatric Nursing,
13, 113124.
Weiner, B. (1986). An attributional theory of motivation
and emotion. New York: Springer-Verlag.
Weiner, B. (1994). Integrating social and personal theories of achievement striving. Review of Educational
Research, 64, 557573.
Weiss, G., & Hechtman, L. T. (1986). Hyperactive children grown up. New York: Guilford Press.
A. J. Martin
Werner, E. (2000). Protective factors and individual
resilience. In J. P. Shonkoff & S. J. Meisels (Eds.),
Handbook of early childhood intervention (2nd ed.,
pp.115132). New York: Cambridge University Press.
Whalen, C. K., Henker, B., Dotemoto, S. (1981) Teacher
responses to the methylphenidate (Ritalin) versus
placebo status of hyperactive boys in the classroom.
Child Development, 52, 10051014.
Whalen, C. K., Henker, B., Hinshaw, S. P., Heller, T.,
Huber-Dressler, A. (1991). Messages of medication:
Effects of actual versus informed medication status on
hyperactive boys expectancies and self-evaluations.
Journal of Consulting and Clinical Psychology, 59,
602606.
Wigfield, A. (1994). Expectancy-value theory of achievement motivation: A developmental perspective. Educational Psychology Review, 6, 4978.
Williams, C., Wright, B., Partridge, I. (1999). Attention
deficit hyperactivity disorder: A review. British Journal of General Practice, 49, 563571.
Quality of Life in Children

Diagnosed with Specific
Learning Disability or AttentionDeficit/Hyperactivity Disorder
Sunil Karande
Abstract
Specific learning disability (SpLD) and attention-deficit hyperactivity

disorder (ADHD) are the most common neurodevelopmental disorders in
children which impair their academic and social functioning. Almost 20%
of children with SpLD have co-occurring ADHD and vice versa. Both
SpLD and ADHD significantly affect the quality of life (QoL), especially
the psychosocial domains, of an afflicted childs life. Both disorders also
impact the QoL of parents and siblings, causing disturbances to family
functioning. SpLD even with optimum management often is a lifelong disorder. ADHD too may persist into adulthood causing disruptions to both
professional and personal life. This chapter describes the QoL of Indian
children with SpLD or ADHD, the factors which affect their QoL and
steps that need to be taken to improve their QoL.
Abbreviations
ADHD Attention-Deficit/Hyperactivity Disorder

DSM-IV-R Diagnostic and Statistical Manual of Mental Disorders,
version 4 revised
HRQoL Health-Related Quality of Life
SpLD Specific Learning Disability
QoL Quality of Life
4.1Introduction
During the last decade and half, India has made
significant progress as a nation and is now considered to be one of the most upcoming economic
S. Karande ()
Learning Disability Clinic, Department of Pediatrics, Seth
Gordhandas Sunderdas Medical College and King Edward
VII Memorial Hospital, Parel, 400012, Mumbai, India
e-mail: karandesunil@yahoo.com
giants in the world. This economic progress has

led to a large majority of Indian parents, including those who are themselves not well educated,
having aspirations that their children get access
to good education and achieve academic excellence (Karande 2008). Although awareness about
specific learning disability (SpLD) and attention-deficit/hyperactivity disorder (ADHD) has
begun to grow amongst pediatricians and school
authorities, especially in the mega cities of India
(Mumbai, New Delhi, Kolkata, Chennai, Ban-

73
74
galore, Hyderabad), it is still less than optimum

(Karande 2008).
Specific learning disability and attentiondeficit/hyperactivity disorder are the most common neurodevelopmental disorders in children
which impair their academic and social functioning (Shaywitz 1998; Shaywitz et al. 1995).
Almost 20% of children with SpLD have cooccurring ADHD and vice versa which may further impair their academic and social functioning
(Shaywitz 1998; Shaywitz etal. 1995). A child or
adolescent with SpLD or ADHD or both has to
cope with its psychological, social, and physical
consequences. In general, there have been few
studies in the world, not just in India, which have
analyzed the quality of life (QoL) of children
having SpLD or ADHD (Karande etal. 2009a).
This chapter describes the QoL of Indian children with SpLD or ADHD, the factors which affect their QoL and steps that need to be taken to
further improve their QoL. This chapter includes
the authors own perspectives derived from his
12 years of experiences in managing these children and their parents.
4.2Definitions
4.2.1Definition of QoL
Quality of Life (QoL) is defined by the World
Health Organization (WHO) as an individuals
perception of his/her position in life in the context of the culture and value systems in which
he/she lives, and in relation to his/her goals,
expectations, standards, and concerns (World
Health Organization 1995). It is a broad-ranging
concept, incorporating in a complex way, the
persons physical health, psychological state,
level of independence, social relationships, personal beliefs, and relationship to salient features
of the environment (World Health Organization
1995).
It is very important that children with chronic
conditions such as SpLD or ADHD not only get
optimum management for their condition but
their QoL also needs to be kept as good as possible.
S. Karande
4.2.2Definition of SpLD
Specific learning disability (SpLD) is a group of
neurodevelopmental disorders which manifest
in childhood as persistent difficulties in learning to efficiently read (dyslexia), write (dysgraphia), or do simple mathematical calculations (dyscalculia) despite normal intelligence,
conventional schooling, intact hearing and vision, and adequate motivation and socio-cultural
opportunity (American Psychiatric Association
1994; World Health Organization 1993).
Specific learning disability is intrinsic to the
individual, presumed to be due to central nervous
system dysfunction, and is chronic life-long condition (Karande and Kulkarni 2005; Shaywitz
1998). Recent genetic linkage studies have implicated loci on chromosomes 6 and 15 in dyslexia
(Grigorenko etal. 1997).
4.2.3Definition of ADHD
Attention-deficit/hyperactivity disorder is a
chronic behavioral disorder characterized by
persistent hyperactivity, impulsivity, and inattention that result in clinically significant impairment in academic or social functioning, or in both
(American Psychiatric Association 2000). The
diagnosis of ADHD is based on clinical findings
and is made by ascertaining whether the childs
specific behaviors meet the Diagnostic and Statistical Manual of Mental Disorders, version 4 revised (DSM-IV-R) criteria (American Psychiatric Association 2000). These criteria define three
subtypes of ADHD (1) ADHD primarily of the
inattentive type (ADHD/I); (2) ADHD primarily
of the hyperactive-impulsive type (ADHD/HI);
and (3) ADHD, combined type (ADHD/C).
ADHD is intrinsic to the individual and is
presumed to be due to central nervous system
dysfunction (Karande 2005). Its etiology is still
unclear but recent studies suggest that genetics
plays a major role in conferring susceptibility
(Ogdie etal. 2004).
4 Quality of Life in Children Diagnosed with Specific Learning Disability
4.3Clinical Features of These

Disorders
4.3.1Clinical Features of SpLD
Up to 515% of seemingly normal school children have this hidden disability (Karande and
Kulkarni 2005; Shaywitz 1998). These children
present with academic problems such as reading slowly and incorrectly, skipping lines while
reading aloud, repeatedly making spelling mistakes, illegible handwriting with poor sequencing, and inability to perform even simple mathematics (Karande and Kulkarni 2005; Shaywitz
1998). Dyslexia afflicts 80% of all children identified as having SpLD (Karande and Kulkarni
2005; Shaywitz 1998). Children with SpLD invariably fail to achieve school grades at a level
that is appropriate for their intelligence (Karande
and Kulkarni 2005; Shaywitz 1998). Their academic problems also have an adverse impact on
their self-image, peer and family relationships,
and social interactions (Karande et al. 2009a;
Shaywitz 1998).
It is important to identify SpLD early rather
than when chronic poor school performance and
its attendant emotional sequelae such as low selfesteem and behavioral problems ensue (Karande
and Kulkarni 2005; Shaywitz 1998). Children
with SpLD are often rejected by their peers and
may fall into substance abuse addiction and become delinquents (Karande and Kulkarni 2005;
Shaywitz 1998). Currently, SpLD cannot be
conclusively diagnosed until the child is about 8
years old (Karande and Kulkarni 2005; Shaywitz
1998).
4.3.2Clinical Features of ADHD

The prevalence of ADHD among school-aged
children in USA is estimated to be between 8 and
12% (Brown etal. 2001). These children present
with academic underachievement and failure, disruptive classroom behavior, inattentiveness, poor
self-esteem, or problems with establishing or
maintaining social relationships (Karande 2005).
Their behavior problems also have an adverse
75
impact on their self-image, peer and family relationships, and social interactions (Mannuzza
and Klein 2000). Even parents of preschool children with ADHD may be under huge stress when
their child does not respond to ordinary parental requests and behavioral advice (DuPaul etal.
2001). It is now well recognized that the presence
of a child with ADHD results in increased likelihood of disturbances to family and marital functioning, disrupted parent-child relationships, and
increased levels of parent stress (Deault 2010).
Whereas it was previously thought that all
children eventually outgrow ADHD, recent studies suggest that 3060% of affected children
continue to show symptoms of the disorder into
adolescence and young adulthood (Faraone etal.
2006). Adolescence may bring about a reduction
in the overactivity but inattention, impulsiveness, and inner restlessness remain resulting in
academic, behavioral, and social impairment
(Faraone etal. 2006). Among individuals whose
symptoms abate during adolescence, the outcome
may be similar to that of normal subjects in terms
of social functioning, and drug and alcohol use,
although not academic achievement (Mannuzza
and Klein 2000; Nijmeijer et al. 2008). Adults
with persistent symptoms complete less formal
schooling, have lower-status jobs and have higher rates of antisocial personality (Mannuzza and
Klein 2000; Nijmeijer etal. 2008).
4.4Management of These Disorders

4.4.1Management of SpLD
The cornerstone of treatment of SpLD is remedial (special) education (Karande and Kulkarni 2005; Shaywitz 1998).Because of the central nervous systems higher plasticity in early
years, this should ideally begin early, when the
child is in primary school viz., before the age of
10 yearsto achieve maximal benefit (Karande
and Kulkarni 2005; Shaywitz 1998). Using specific teaching strategies and teaching materials,
the special educator formulates an Individual
Educational Program to reduce or eliminate the
childs deficiencies in specific learning areas of
76
reading, writing, and mathematics identified during the childs educational assessment (Karande
and Kulkarni 2005; Shaywitz 1998). The child
has to undergo remedial education sessions twice
or thrice weekly for a few years to achieve academic competence (Karande and Kulkarni 2005;
Shaywitz 1998). During these sessions the child
with dyslexia undergoes systematic and highly
structured training exercises to learn that words
can be segmented into smaller units of sound
(phoneme awareness), and that these sounds
are linked with specific letters and letter patterns (phonics, Karande and Kulkarni 2005;
Shaywitz 1998).The child also requires practice
in reading stories; both to apply newly acquired
decoding skills to reading words in context and
to experience reading for meaning (Karande and
Kulkarni 2005; Shaywitz 1998). For dyscalculia,
remediation involves rote learning of arithmetic
facts, developing strategies for solving arithmetic exercises, and developing number sense
or its access via symbolic information (Shalev
2004).However, even after adequate remedial
education, subtle deficiencies in reading, writing,
and mathematical abilities persist (Karande and
Kulkarni 2005; Shaywitz 1998).
The management of SpLD in the more timedemanding setting of secondary school is based
more on providing provisions or accommodations
rather than remediation (Karande and Kulkarni
2005; Shaywitz 1998). These provisions, for example, exemption from spelling mistakes, availing extra time for all written tests, dropping a language and substituting it with work experience,
dropping algebra and geometry and substituting
them with lower grade of mathematics and work
experience, are meant to help the child cope up in a
regular mainstream school (Karande and Kulkarni
2005; Kulkarni etal. 2006; Shaywitz 1998).
4.4.2Management of ADHD
It is important to identify ADHD early and begin
its management. Parent training is the sole treatment for children with ADHD who are below
6 years of age (Sonuga-Barke etal. 2001). Par-
S. Karande
ents are taught by psychologists or social workers to achieve consistent and positive interactions
with their affected child. They are taught how to
reinforce positive behaviors by praise or by using
daily contingency charts (star or happy face
charts), how to extinguish negative behaviors by
active ignoring, and how to effectively punish
for intolerable behaviors (Pelham and Fabiano
2000). Even for mild cases of ADHD who are
above 6 years of age, medications may not be
necessary. In children with moderate or severe
ADHD who are above 6 years of age, methylphenidate and atomoxetine are the two drugs being
currently prescribed in India and their efficacy
in decreasing the symptoms of ADHD is well
documented (Karande 2005). Although medication works well in most cases of ADHD, optimal
treatment requires integrated medical and behavioral treatment (Karande 2005). Simple pyschoeducational interventions at school such as seating the child near the teacher to minimize classroom distractions or assigning a specific teacher
to review daily assignments with the child have
been shown to be effective in improving the behavior and academic performance of affected
children (Hoffman and DuPaul 2000).
If not managed properly, by adolescence, in up
to 2025% development of comorbid psychiatric
disorders such as anxiety disorder, depression,
oppositional defiant disorder (ODD), and conduct disorder (CD) is known to occur (Waxmonsky 2003). If ADHD with coexisting psychiatric
conditions remains undetected, the prognosis is
poorer. Adolescents with ADHD and coexisting depression are at increased risk for suicide
attempts (Mannuzza and Klein 2000; Nijmeijer
etal. 2008). Frequently, children and adolescents
with ADHD with persisting ODD later develop
symptoms of sufficient severity to qualify for a
diagnosis of CD (Waxmonsky 2003). The frequency of substance-use disorder, mostly not involving alcoholism, is higher among adolescents
and young adults with ADHD predominantly
among those with coexisting CD (Mannuzza and
Klein 2000; Nijmeijer et al. 2008; Waxmonsky
2003).
4.5Research Studies Done in India

4.5.1Studies Done on Indian Children
with SpLD
In the last few years, a few research studies
which are related to the QoL of children with
SpLD have been done by me and my colleagues.
The main findings of these studies are summarized below.
4.5.1.1Health-Related Quality of Life

(HRQoL) of Children with SpLD
The health-related quality of life (HRQoL) is a
multidimensional measure of the overall condition of a human life, namely, physical, psychological, and social environment (World Health
Organization 1995). In the year 2005, a study was
conducted in my institutes learning disability
clinic with the aim to (i) measure and analyze the
parent-reported HRQoL of children with newly
diagnosed SpLD and (ii) to evaluate the impact
of clinical and socio-demographic characteristics
on their HRQoL (Karande et al. 2009a). To the
best of my knowledge, this is the first study done
anywhere in the world to document and analyze
the HRQoL of children with SpLD.
The HRQoL of the study children (n=150, of
which 38 children that is 25% had co-occurring
ADHD) was measured using the Child Health
QuestionnaireParent Form 50 (CHQPF50)
which has been devised and validated (Landgraf
etal. 1999). This generic instrument is designed
to be completed by a parent to measure the
HRQoL of a child aged 518 years. This study
relied on information obtained from parents,
rather than from the children themselves, since
most children with newly diagnosed SpLD have
limited reading ability to complete an HRQoL
questionnaire properly. It is possible that the
health perceptions of these children might have
differed from those of their parents. However, for
the pediatric population, parent-proxy tools are
generally accepted as being reliable measures of
child health status (Eiser and Jenney 2007).
This study confirmed that the HRQoL of Indian children with newly diagnosed SpLD (mean
age 12.2 years, SD 2.2, range 7.0117.03) is sig-
77
nificantly compromised in several psychosocial

and physical domains of health (Karande et al.
2009a). This study documented that children
with newly diagnosed SpLD very often exhibit
aggressive, immature, delinquent behavior; often
have feelings of anxiety and depression; and have
severe limitations in school work or activities
with their friends as a result of their emotional
and/or behavioral problems. These children also
have poor physical health; which leads to their
having lots of limitations in their physical activities, including self-care; and in doing school
work or activities with their friends. Their psychosocial and physical problems not only have
a significant impact on their parents emotional
health and personal time, but also very often limit
and interrupt activities or generate tension for
the entire family. The present study also documents that the overall health of these children
is significantly compromised; with their psychosocial health being adversely affected more than
their physical health. Also, in the present study,
multivariate analysis demonstrated that having
one or more associated nonacademic problem(s)
(such as behavioral problems, speech problems,
anxiety problems, chronic allergies, depressive
thoughts, sleep disturbances, nocturnal enuresis,
etc.), co-occurring ADHD, or first-born status
were independent predictors of a poor overall
psychosocial health outcome; and having one or
more associated nonacademic problem(s) or firstborn status were independent predictors of a poor
overall physical health outcome. Also, class detention (or grade retention) had been experienced
by 38 (25%) study children. Class detention is
known to cause severe emotional stress and lead
to behavioral problems (Pagani etal. 2001).
This study clearly showed that children with
newly diagnosed SpLD and their families have
problems in their everyday lives that go far beyond the symptoms of the disorder. We proposed
that the HRQoL should be documented in every
child with newly diagnosed SpLD to gather information about the childs and familys actual
life situation. This information would be useful
to counselors to help improve the childs and
familys QoL. The study also revealed that the
firstborn status was an independent predictor of
78
poor overall psychosocial and physical health

outcome. In Indian society, parents often have
high expectations from their first-born child.
We postulated that a first-born child with SpLD
may therefore be experiencing a lot more stress
at home due to parental expectations for good
school grades (Karande etal. 2009a).
Further detailed analysis of our results confirmed that the HRQoL of children with newly
diagnosed SpLD and co-occurring ADHD
(SpLD/ADHD) was significantly poorer than
the HRQoL of SpLD only children (Karande
and Bhosrekar 2009). Our data clearly showed
that SpLD/ADHD children more often exhibit
aggressive, immature, and delinquent behavior;
they are more dissatisfied with their abilities,
family and peer relationships, and their overall
life; and their problems have a significant impact
on their parents emotional health and personal
time. Also they have significantly lower psychosocial summary scores, indicating clinically and
socially relevant decreased psychosocial wellbeing (Karande and Bhosrekar 2009). Our results
highlighted the importance of treating co-occurring ADHD to improve the psychosocial health
of children with SpLD/ADHD.
4.5.1.2Recollections of LearningDisabled Adolescents of Their

Schooling Experiences
Little is known about the actual impact of the
schooling experience on adolescents with SpLD,
as they recall it. Hence we undertook this qualitative study (June to August 2007) to analyze the
recollections of adolescents with SpLD who had
been diagnosed in our clinic and were undergoing their education in regular mainstream schools
(Karande etal. 2009b). The interview instrument,
designed for this study by the investigators, had
both open- and close-ended questions to guide
the interview. Before the study commenced, the
interview instrument had been critiqued for content validity and clarity. Each semi-structured interview was conducted over 2030min in a quiet,
secluded room by a single investigator, audio-recorded, and then transcribed verbatim and interpreted by content analysis. The adolescent was
interviewed without the parent(s) being present.
The number of participants was determined by
S. Karande
saturation sampling, that is, when the participants repeated the same information and no new
data was forthcoming, resulting in a total of 30
adolescents (mean age 15.7 years, SD 1.1; range
13.717.9 years). In this study, adolescents with
SpLD who had comorbid ADHD had been excluded as these conditions themselves can influence their recollections of their schooling years.
The results of this study revealed that 12 (40%)
adolescents had overall neutral recollections, 9
(30%) had overall positive recollections, and 9
(30%) had overall negative recollections about
having SpLD during their schooling (Karande
etal. 2009b). Fourteen (47%) adolescents stated
getting provisions as good features, whereas 7
(23%) stated feeling different from classmates
and 6 (20%) stated being teased by classmates
about their disability as bad features of having
SpLD. Nineteen (63%) adolescents remembered
classroom teachers being supportive, while 7
(23%) remembered being insulted by them. Of
the 21 adolescents who had undergone remedial
education, only 10 (47%) acknowledged that it
had benefited them. Twenty-one (70%) adolescents stated that availing provisions helped in
getting better marks in examinations. Ten (33%)
adolescents had negative recollections about
their parents behavior in relation to their disability. Of the 23 adolescents who had sibling(s), 4
(17.4%) adolescents recalled at least 1 bad experience with their sibling(s) in relation to their
disability (Karande etal. 2009b).
This study revealed that poor knowledge of
classroom teachers, classmates, and family members about SpLD and about the rationale of provisions results in unpleasant experiences for students
with SpLD during their schooling years and thus
adversely affects their QoL (Karande etal. 2009b).
4.5.2Studies Done on Indian Parents

of Children with SpLD
4.5.2.1Anxiety Levels in Mothers
It is known that parents of children with SpLD
are not aware of this hidden disability and undergo stress in coping with the childs condition
(Karande and Kulkarni 2005). However, no study
had documented the anxiety levels and causes of

the anxiety in parents having a child with this
hidden disability. Keeping this in mind we conducted a study whose objectives were to measure
the levels of anxiety in mothers of children with
SpLD at the time of diagnosis and to find out the
cause of their anxiety (Karande etal. 2009c). In
this study (done from September 2006 to May
2007), we interviewed 100 mothers (mean age
40.14 years, SD 4.94, range 25.0754.0). Each
interview was conducted over about 45min in a
quiet room with only the mother present and after
reassuring her of confidentiality of all personal
information. Firstly, the Hamilton Anxiety Scale
(HAM-A), a widely used and validated clinicianrated symptom scale designed to quantify the
severity of anxiety symptoms over the past one
week, was used to measure the levels of anxiety
in each mother (Hamilton 1959; Sajatovic and
Ramirez 2003). Subsequently, each mother was
interviewed using a semistructured questionnaire
to find out what was worrying her over the last
one week in all areas of her life and her worries
were noted ad verbatim. The interview instrument, designed for this study by the investigators, had both open- and close-ended questions
to guide the interview. Before the study commenced, the interview instrument had been critiqued for content validity and clarity.
This study documented that in the city of
Mumbai, most mothers (75%) have already developed mild levels of anxiety by the time SpLD
is diagnosed in their child. Their common worries
were related to childs poor school performance
(95%); childs future prospects in life (90%);
childs behavior namely, aggressive behavior,
temper tantrums, stubbornness, hyperactivity, or
inattentiveness (51%); and making visits to our
clinic for their childs assessment (31%; Karande
et al. 2009c). This study highlighted the acute
need to address maternal anxieties about SpLD
right at the time of diagnosis of the disability in
the child (Karande etal. 2009c).
4.5.2.2Quality of Life of Parents

Until recently no study had documented the QoL
of parents having a child with SpLD. Keeping
this in mind, we conducted a study whose ob-
79
jectives were to measure and analyze the QoL

of parents having a child with newly diagnosed
SpLD and to evaluate the impact of clinical and
socio-demographic characteristics on their QoL
(Karande and Kulkarni 2009). The QoL of the
study parents (n=150) was measured using the
International World Health Organization Quality of Life-100 instrument (WHOQoL-100)
(World Health Organization 1998). This generic
instrument is designed for cross-cultural subjective assessment and whose validity and reliability
is well documented (Power etal. 1999).
This study revealed that Indian parents having children with newly diagnosed SpLD (mean
age 42.6 years, SD 5.5; mother to father ratio
1.3:1) regard four domains (psychological>environment>social relationships>spiritual) as
significant contributors to their overall QoL
(Karande and Kulkarni 2009). Multivariate analysis revealed that being a mother was an independent predictor of poor psychological and
social relationships domain scores; and being
currently ill was an independent predictor of a
poor social relationships domain score. Our
study also showed that these parents regard five
facets (participation in and opportunities for leisure activities>positive feelings>energy and
fatigue>self-esteem>sexual activity) as important contributors to their overall QoL. Multivariate analysis revealed that being currently ill was
an independent predictor of poor participation in and opportunities for leisure activities
and energy and fatigue facet scores; being in
paid work was another independent predictor of
a poor participation in and opportunities for
leisure activities facet score; being a mother was
an independent predictor of poor positive feelings and energy and fatigue facet scores; and
child being male was an independent predictor of
poor energy and fatigue facet score (Karande
and Kulkarni 2009).
This study identified the significant clinical
and socio-demographic variables which impact
the QoL of these parents and which need to be
addressed by counselors right at the time SpLD
is diagnosed in their child (Karande and Kulkarni 2009). Improving the QoL of parents would
eventually improve the home environment and
help rehabilitation of children with SpLD.
80
4.5.3Studies Done on Indian Children

with ADHD
To date and to the best of my knowledge, no
research study has been done on QoL of Indian
children with ADHD.
4.6Research Studies Done on QoL

of Children with ADHD
4.6.1Health-Related Quality of Life
(HRQoL) of Children with ADHD
Escobar et al. (Spain) have documented and
analyzed the HRQoL of untreated children
with newly diagnosed ADHD using the CHQPF50 (Escobar etal. 2005). Diagnostic delay for
children with ADHD was 212 years (mean 5.8
years, SD 2.3). Their results revealed that both
children with ADHD and their families had already developed problems in their everyday lives
because of the disorder. Although interference
with their daily lives was mainly in areas related
to psychosocial functioning, impaired physical
functioning was also apparent. Children with
ADHD had developed behavioral problems (aggressive, immature, delinquent behavior), limitations in schoolwork or activities with friends as
a result of physical problems, worse family relationships, lower self-esteem, and more feelings
of anxiety or depression than controls (namely
asthmatic or healthy children). Children in this
study had also shown significantly more comorbid disorders, namely ODD and anxiety disorders
than controls. Parents worried a great deal as a result of their childs condition and had more limitations on their personal time. Also, there were
severe limitations in family activities (Escobar
etal. 2005).
4.6.2Health-related Quality of Life

(HRQoL) of Children with ADHD
Klassen etal. (Canada) have documented and analyzed the HRQoL of children with ADHD using
the CHQ-PF50 (Klassen etal. 2004). About 45%
S. Karande
of children in their study sample (mean age 10

years, SD 2.8) had received stimulant medication
for ADHD in the past and 28% were currently on
medication. Ninety (69%) children had at least
one comorbid psychiatric diagnosis. Fifty-one
(39%) children had a comorbid SpLD, 45 (34%)
had ODD/CD, and 27 (21%) had some other comorbid diagnosis (e.g., Tourette syndrome, sleep
disorder, depression, anxiety disorder, communication disorder).
Their results revealed that ADHD had a significant impact on multiple domains of HRQoL in
children and adolescents. Compared with normative data, children with ADHD had more parentreported problems. These children were limited
in a lot of school work or activities with friends
as a result of emotional or behavioral problems;
they very often exhibited aggressive, immature,
delinquent behavior; they very often had feelings
of anxiety and depression; and were dissatisfied
with their abilities, family/peer relationships, and
life overall. In addition, the problems of children
with ADHD had a significant impact on the parents emotional health and parents time to meet
their own needs, and they interfered with family activities and family cohesion. Also, children with more symptoms of ADHD had worse
psychosocial HRQoL. Children with multiple
comorbid disorders had poorer psychosocial
HRQL across a range of domains compared with
children with none and one comorbid disorder.
In addition, compared with children with no comorbidity, psychosocial HRQL was significantly
lower in children with ODD/CD, and children in
the other comorbidity group (namely, Tourette
syndrome, sleep disorder, depression, anxiety
disorder, and communication disorder) but not in
children with SpLD. In this study, the comorbid
SpLD did not worsen the already poor psychosocial HRQoL in children with ADHD (Klassen
etal. 2004).
4.6.3Recent Systematic Review on

QoL of Children with ADHD
A recent review of literature on QoL of children
with ADHD has reviewed data from 36 relevant
articles to confirm that ADHD seriously compromises QoL especially when seen from the
parents perspective (Danckaerts et al. 2010).
However, children with ADHD rate their own
QoL less negatively than their parents and do not
always see themselves as functioning less well
than healthy controls. These discrepant findings
between child and parent reports of QoL may be
the result of their young age, namely, children
due to their innate innocence, are less judgmental
and more accepting of their situation. Other reasons may be that children may be overestimating
their own abilities and performance in order to
protect a positive self-image; or they may want
to conceal their problems; or they may be making
systematic mistakes in rushing through the questionnaires because of their impulsive cognitive
style (Danckaerts etal. 2010).
4.7Improving QoL of Children with

These Disorders
Every child diagnosed with SpLD or ADHD or
both offers a unique challenge to the pediatrician, child psychiatrist, special educator, medical social worker, and school teachers. This is
true because each childs situation in the family
and school and the community at large can vary
widely. Both parents and school teachers need
to be empathetic and well-informed to enable
the child to achieve not only his or her academic
potential, but to grow up to be a stable, well-adjusted adult who can contribute positively to the
society at large.
4.7.1Improving QoL of Indian

Children with SpLD
A Hindi movie Taare Zameen Par (Stars on the
Earth) released in the year 2007 has sensitively
and accurately depicted the plight of an 8-yearold boy battling SpLD (Karande 2008). The commercial success and critical acclaim of this movie
has created a tremendous impact and has helped
sensitize viewers about this hidden disability.
However, a lot needs to be done to ensure that
81
every child with SpLD is detected and receives

remedial education in India. At present, even in
the mega cities such as Mumbai, Chennai, Bangalore, New Delhi, Hyderabad, and Kolkata,
there are very few learning disability clinics for
doing the psychoeducational testing for diagnosing SpLD; and there is a dearth of qualified special educators and remedial teachers. In smaller
towns and rural areas, such clinics are nonexistent (Karande 2008).
Firstly, awareness of this hidden disability
has to be increased. For this, the topic of SpLD
should be compulsorily taught to doctors, school
teachers, counselors, and general public (who are
the future parents) during their undergraduate
studies. Parents of a child with newly-diagnosed
SpLD have very poor understanding of the disorder (Karande etal. 2007). Even a one-time educational intervention can help these parents improve their knowledge; namely, (i) of the meaning of the term SpLD, (ii) that remedial education is to be given by a special educator (and not
by a regular school teacher) and it is the recommended treatment of SpLD, (iii) the meaning of
the term remedial education, (iv) that remedial
sessions are necessary twice or thrice weekly for
a period of 13 years to achieve academic competence, (v) the meaning and purpose of provisions or accommodations, and (vi) the fact that
SpLD is a lifelong disorder (Karande etal. 2007).
A recent study done in our clinic has documented
that children with SpLD who availed the benefit
of provisions showed a significant improvement
in their academic performance at the standard X
board examinations (Kulkarni etal. 2006).
Secondly, an evaluation for SpLD should
be considered for all children presenting with
learning problems in preschool/school (Karande
2008). This would help diagnose SpLD at a young
age when remedial education can be initiated to
help the child largely overcome the disability. At
present, many children with SpLD studying in
non-English (vernacular) medium schools, and
especially in rural areas, are going undetected
for nonavailability of standardized psychological
and educational tests. This lacunae needs to be
corrected by developing standardized psychological and educational tests in all Indian languages.
82
Also, few special educators are available to do

the educational testing necessary for diagnosing
SpLD. Many more universities in our country
should start the undergraduate degree course,
namely, B.Ed. (Special Education) and the postgraduate degree course, namely, M.Ed. (Special
Education) for people wanting to become remedial teachers and special educators, respectively.
Regular school teachers should be encouraged to
take up the additional responsibility of becoming
remedial teachers (Karande 2008).
Thirdly, SpLD should be recognized as a disability by the union government of India (Karande
2008). For this, the advocacy groups will have to
convince the policy makers to amend the Persons
with Disabilities (Equal Opportunities, Protection of Rights and Full Participation) Act, 1995
which is guided by the philosophy of promoting
equality and participation of persons with disabilities and eliminating discriminations of all kinds
(Ministry of Social Justice and Empowerment
1996). At present, the Act recognizes visual impairment, hearing impairment, locomotor disability, mental retardation, leprosy-cured, and mental
illness to be disabilities (Ministry of Social Justice and Empowerment 1996). The government
of India, since 2001, has launched the Sarva Shiksha Abhiyan (Education for All Movement)
which is a comprehensive and integrated flagship
program to attain universal elementary education
in the country in a mission mode (Department of
School Education and Literacy 2001). Launched
in partnership with the state governments, the
program aims to provide useful and relevant
education to all children, including children with
disabilities (Department of School Education and
Literacy 2001). Once SpLD is recognized as a
disability by the government of India, children
with SpLD would be able to benefit significantly.
Funds from the Sarva Shiksha Abhiyan would
be available to set up detection centers in every
city/town/district headquarters and remediation
centers in each school all over the country. At
present, the facility of remedial education is still
not available in many schools even in a megacity such as Mumbai and many parents cannot afford the services of special educators working in
the private sector (one session costs about rupees
250500; Karande 2008).
S. Karande
The children with SpLD should have regular

counseling sessions in their schools to prevent
feelings of alienation, self-loathing, and despair
(Karande etal. 2009b). The children with SpLD/
ADHD need special care as they and their parents have far more problems in their everyday
life than children with SpLD only (Karande and
Bhosrekar 2009). To improve QoL of children
with SpLD/ADHD, it is important to treat co-occurring ADHD effectively (by behavioral therapy
and if necessary with medications) to improve the
psychosocial health of such children. Also, without the symptoms of ADHD being controlled, it
is often difficult for the remedial teacher to do the
remedial education effectively.
4.7.1.1Improving QoL of Indian Parents

with Children with SpLD or
SpLD/ADHD
Quality of life of the parents (and therefore siblings) needs to be simultaneously improved (see
Sects. 4.5.2.1 and 4.5.2.2). Parents, especially
mothers as they usually do the day-to-day rearing
in Indian society, should be counseled in depth
over a few sessions, about what is SpLD and why
it results in poor school performance (Karande
et al. 2009c). Their anxieties about the childs
future should be allayed by informing them that
school performance improves after the child undergoes remedial education and avails the benefits of provisions or accommodations in his or her
school curriculum. The parents should also be advised about good parenting techniques to lessen
the behavioral problems (Karande etal. 2009c).
Counselors should spend more time and have follow up visits especially for all mothers in general and for parents who are ill and those who are
working parents (Karande and Kulkarni 2009).
The parents who are stressed can be advised to
keep aside time for recreation and leisure activities and do regular yoga exercises or other relaxation techniques (Karande and Kulkarni 2009).
4.7.2Improving QoL of Indian

Children with ADHD
QoL of Indian children with ADHD can be improved by improving the knowledge about this
disorder amongst doctors, school teachers, counselors, and the general public. Increase in ADHD
awareness would help shorten the time to diagnose it. Early recognition, assessment, and management of this condition would redirect the educational and psychosocial development of most
children with ADHD. It is important to teach
these parents good parenting techniques to help
preclude development of comorbidities such as
anxiety disorder, depression, ODD, and even CD
(Deault 2010). Both school teachers and parents
should be knowledgeable of the psychoeducational interventions (see Sect. 4.4.2) needed by
these children to improve their academic and social functioning in the school and in society.
There is emerging evidence that QoL improves with effective medical treatment (Danckaerts etal. 2010). In my clinic, the main targets
of ADHD treatment have focused on reducing
the severity of symptoms during the school days
and improving academic performance. Both
methylphenidate and atomoxetine are used to
effectively reduce the ADHD symptoms. In my
experience, few parents (approximately 30%) are
willing to start any drug to control their childs
ADHD symptoms. They are apprehensive of
any drug which would be acting on their childs
brain. They also download information from
the internet about potential side-effects such as
weight loss, insomnia, abdominal pain, growth
retardation. Many parents prefer to start their
children on homeopathic or ayurvedic (alternative) medications. Of the parents who are willing
to start medications, very few continue them for
long term.
In developed countries, the parents seem to be
much more willing to start their child on medications. Recent research has shown that both
methylphenidate and atomoxetine when used to
control the core symptoms during school hours
have led to a modest increase in QoL of these
children (Bastiaens 2008; Wehmeier etal. 2007;
Yang et al. 2007). The latest trend in the treatment of ADHD is to address the issues of social
competencies for these children by achieving
symptom control, not just during school hours
but extending into late afternoon and evening
(Buitelaar and Medori 2010). For this, a routine
83
use of oral extended-release methylphenidate

formulation for benefits of active full day coverage (12 h) with a single daily dose has been
recommended as a treatment option (Buitelaar
and Medori 2010). Also, switching to methylphenidate transdermal system from a stable dose of
routinely prescribed oral extended-release methylphenidate (after a short treatment period) has
been recently proposed as a treatment option as
majority of parents were highly satisfied with its
use (Manos etal. 2009).
4.8Concluding Remarks
Quality of Life of children diagnosed with SpLD
or ADHD or both is an extremely important topic
in any progressive society. Several research studies still need to be done to unravel lacunae in this
vast topic across culturally diverse societies both
in the developing and developed world. Some examples for future research include (i) the QoL of
adults with SpLD or ADHD or both; (ii) optimum
parenting techniques to prevent development of
comorbidities such as ODD/CD in children with
ADHD; (iii) methods to address the concerns of
parents of children with ADHD about the longterm effects of methylphenidate and atomoxetine.
Acknowledgments The author would like to thank Dr.
S.N. Oak, Director (Medical Education & Major Hospitals, Municipal Corporation of Greater Mumbai) and
Dean of Seth G.S. Medical College and K.E.M. Hospital
for granting him permission to publish this manuscript.
Funding: The Learning Disability Clinic at our Institute is
partially funded by a charitable grant from Tata Interactive Systems, Mumbai.
References
and statistical manual of mental disorders. Washington DC: American Psychiatric Association.
and statistical manual of mental disorders. Washington DC: American Psychiatric Association.
Bastiaens, L. (2008). Both atomoxetine and stimulants
improve quality of life in an ADHD population treated
in a community clinic. Psychiatric Quarterly, 79,
133137.
84
Brown, R. T., Freeman, W. S., Perrin, J. M., etal. (2001).
Prevalence and assessment of attention-deficit/hyperactivity disorder in primary care settings. Pediatrics,
107, e43.
Buitelaar J., & Medori, R. (2010). Treating attentiondeficit/hyperactivity disorder beyond symptom control alone in children and adolescents: a review of the
potential benefits of long-acting stimulants. European
Danckaerts, M., Sonuga-Barke, E. J., Banaschewski,
T., et al. (2010). The quality of life of children with
attention deficit/hyperactivity disorder: a systematic
review. European Child and Adolescent Psychiatry,
19, 83105.
Deault, L. C. (2010). A systematic review of parenting in
relation to the development of comorbidities and functional impairments in children with attention-deficit/
hyperactivity disorder (ADHD). Child Psychiatry and
Human Development, 41, 168192.
Department of School Education and Literacy. (2001).
Sarva shiksha abhiyan: A program for the universalization of elementary education. Ministry of Human
Resource
Development.
http://www.ssa.nic.in.
Accessed 8 Jan 2011.
DuPaul, G. J., McGoey, K. E., Eckert, T. L., etal. (2001).
Preschool children with attention-deficit/hyperactivity disorder: impairments in behavioral, social, and
school functioning. Journal of the American Academy
Eiser, C., & Jenney, M. (2007). Measuring quality of life.
Archives of Disease in Childhood, 92, 348350.
Escobar, R., Soutullo, C. A., Hervas, A., et al. (2005).
Worse quality of life for children with newly diagnosed attention-deficit/hyperactivity disorder, compared with asthmatic and healthy children. Pediatrics,
116, e364e369.
Faraone, S. V., Biederman, J., Mick, E. (2006). The agedependent decline of attention deficit hyperactivity
disorder: a meta-analysis of follow-up studies. Psychological Medicine, 36, 159165.
Grigorenko, E. L., Wood, F. B., Meyer, M. S., etal. (1997).
Susceptibility loci for distinct components of developmental dyslexia on chromosomes 6 and 15. American
Journal of Human Genetics, 60, 2739.
Hamilton, M. (1959). The assessment of anxiety states
by rating. British Journal of Medical Psychology, 32,
5055.
Hoffman, J. B., & DuPaul, G. J. (2000). Psychoeducational interventions for children and adolescents with
attention-deficit/hyperactivity disorder. Child Adolescent Psychiatric Clinics of North America, 9, 647661.
Karande, S. (2005). Attention deficit hyperactivity disorder: A review for family physicians. Indian Journal of
Medical Sciences, 59, 546555.
Karande, S. (2008). Current challenges in managing specific learning disability in Indian children. Journal of
Postgraduate Medicine, 54, 7577.
Karande, S., & Bhosrekar, K. (2009). Impact of attention-deficit/hyperactivity disorder on health-related
S. Karande
quality-of-life of specific learning disability children.
Indian Journal of Pediatrics, 76, 11191124.
Karande, S., & Kulkarni, M. (2005). Specific learning disability: the invisible handicap. Indian Pediatrics, 42,
315319.
Karande, S., & Kulkarni, S. (2009). Quality of life of parents of children with newly diagnosed specific learning disability. Journal of Postgraduate Medicine, 55,
97103.
Karande, S., Mehta, V., Kulkarni, M. (2007). Impact of an
education program on parental knowledge of specific
learning disability. Indian Journal of Medical Sciences, 61, 398406.
Karande, S., Bhosrekar, K., Kulkarni, M., etal. (2009a).
Health-related quality of life of children with newly
diagnosed specific learning disability. Journal of
Tropical Pediatrics, 55, 160169.
Karande, S., Mahajan, V., Kulkarni, M. (2009b). Recollections of learning-disabled adolescents of their
schooling experiences: A qualitative study. Indian
Journal of Medical Sciences, 63, 382391.
Karande, S., Kumbhare, N., Kulkarni, M., etal. (2009c).
Anxiety levels in mothers of children with specific
learning disability. Journal of Postgraduate Medicine,
55, 165170.
Klassen, A. F., Miller, A., Fine, S. (2004). Health-related
quality of life in children and adolescents who have
a diagnosis of attention-deficit/hyperactivity disorder.
Pediatrics, 114, e541e547.
Kulkarni, M., Karande, S., Thadhani, A., et al. (2006).
Educational provisions and learning disability. Indian
Journal of Pediatrics, 73, 789793.
Landgraf, J. M., Abetz, L., Ware, J. E. (1999). Child
health questionnaire (CHQ): A users manual. Boston:
Health Act.
Mannuzza, S., & Klein, R. G. (2000). Long-term prognosis in attention-deficit/hyperactivity disorder. Child
Adolescent Psychiatric Clinics of North America, 9,
711726.
Manos, M., Frazier, T. W., Landgraf, J. M., etal. (2009).
HRQL and medication satisfaction in children with
ADHD treated with the methylphenidate transdermal
system. Current Medical Research and Opinion, 25,
30013010.
Ministry of Social Justice and Empowerment. (1996).
The persons with disabilities (equal opportunities,
protection of rights and full participation) act, 1995.
Ministry of Social Justice and Empowerment. http://
www.socialjustice.nic.in/pwdact1995.php. Accessed 8
Jan 2011.
Nijmeijer, J. S., Minderaa, R. B., Buitelaar, J. K., et al.
(2008). Attention-deficit/hyperactivity disorder and
social dysfunctioning. Clinical Psychology Review,
28, 692708.
Ogdie, M. N., Fisher, S. E., Yang, M., etal. (2004). Attention deficit hyperactivity disorder: fine mapping
supports linkage to 5p13, 6q12, 16p13, and 17p11.
American Journal of Human Genetics, 75, 661668.
Pagani, L., Tremblay, R. E., Vitaro, F., et al. (2001).
Effects of grade retention on academic performance

and behavioral development. Development and Psychopathology, 13, 297315.
Pelham, W. E., Jr., & Fabiano, G. A. (2000) Behavior
modification. Child Adolescent Psychiatric Clinics of
North America, 9, 671688.
Power, M., Harper, A., Bullinger, M., etal. (1999). WHOQOL-100: tests of the universality of quality of life in
15 different cultural groups worldwide. Health Psychology, 18, 495505.
Sajatovic, M., & Ramirez, L. F. (2003). Rating scales in
mental health. Hudson: Lexi-Comp.
Shalev, R. S. (2004). Developmental dyscalculia. Journal
of Child Neurology, 19, 765771.
Shaywitz, S. E. (1998). Dyslexia. New England Journal
of Medicine, 338, 307312.
Shaywitz, B. A., Fletcher, J. M., Shaywitz, S. E. (1995).
Defining and classifying learning disabilities and
attention-deficit/hyperactivity disorder. Journal of
Child Neurology, 10, S50S57.
Sonuga-Barke, E. J., Daley, D., Thompson, M., et al.
(2001). Parent-based therapies for preschool attention-deficit/hyperactivity disorder: a randomized, controlled trial with a community sample. Journal of the
American Academy of Child and Adolescent Psychiatry, 40, 402408.
Waxmonsky, J. (2003). Assessment and treatment of
attention deficit hyperactivity disorder in children
85
with comorbid psychiatric illness. Current Opinion in

Pediatrics, 15, 476482.
Wehmeier, P. M., Dittmann, R. W., Schacht, A., et al.
(2007). Effectiveness of atomoxetine and quality of
life in children with attention-deficit/hyperactivity
disorder as perceived by patients, parents, and physicians in an open-label study. Journal of Child Adolescent Psychopharmacology, 17, 813830.
World Health Organization (1993). The international
classification of diseases, (Vol. 10): classification
of mental and behavioral disorders. Geneva: World
Health Organization.
World Health Organization (1995) The World Health
Organization Quality of Life assessment (WHOQOL):
position paper from the World Health Organization.
Social Science and Medicine, 41, 14031409.
World Health Organization (1998). WHOQOL user manual (WHO/MNH/MHP/98.4.Rev.1). Geneva: World
Yang, P., Hsu, H. Y., Chiou, S. S., et al. (2007) Healthrelated quality of life in methylphenidate-treated
children with attention-deficit-hyperactivity disorder:
results from a Taiwanese sample. Australian and New
Zealand Journal of Psychiatry, 41, 9981004.
Children and Adolescents

with Mobility Limitations
Ann I. Alriksson-Schmidt and Judy K. Thibadeau
Abstract
A group of children with special health care needs, those with mobility
limitations, is the focus of this chapter. We discuss the impact of mobility limitation in childhood and adolescence among those who were either
born with a mobility limiting condition or those who acquired a mobility
limitation at a very young age. The purpose of this chapter is to provide
an overview of common important concerns and issues in the lives of children growing up with a mobility limitation. Included are related medical
issues; potential treatment approaches; developmental transitioning; quality of life, pain, and depression; and finally abuse and the importance of
advocacy as it relates to mobility limitation and participation in childhood
and adolescence. Throughout the chapter, the normalization of the developmental experience of the child with a mobility limitation is considered
and explored.
Abbreviations
CDC U.S. Centers for Disease Control and Prevention

ICF-CY International Classification of Functioning, Disability and
Health, Children and Youth versions
WHO World Health Organization
WHOQoL World Health Organization Quality of Life measures
A. I. Alriksson-Schmidt ()
National Center on Birth Defects and Developmental
Disability, Division of Human Development and
Disability, Centers for Disease Control and Prevention,
1600 Clifton Rd, NE MS E-88, Atlanta, GA 30333, USA
e-mail: Ann.Alriksson-Schmidt@med.lu.se
J. K. Thibadeau
National Center on Birth Defects and Developmental
Disability, Division of Human Development and
Disability, Centers for Disease Control and Prevention,
1825 Century Boulevard, Atlanta, GA 30345, USA
e-mail: jthibadeau@cdc.gov, csn2@cdc.gov
87
88
5.1Introduction
Children with special health care needs are described as those who have or are at an increased
risk for a chronic physical, developmental, behavioral, or emotional condition and who also
require health and related services of a type or
amount beyond that required by children generally (U.S. Department of Health and Human
Services, Health Resources and Services Administration, and Maternal and Child Health Bureau
2004). Among children with special health care
needs, some live with mobility limitations. Depending on the cause of the mobility limitation,
other functions may also be compromised. For the
purpose of this chapter, we focus on the impact or
correlates of mobility limitation in children and
adolescents with congenital or child-onset conditions, including trauma, and exclude those with
diagnosed intellectual disability. The intention
of the chapter is to provide an introduction and
overview of common important concerns and issues in the lives of children growing up with a
mobility limitation. We begin by defining mobility limitation and provide a brief background and
rationale for considering children who experience this specific type of functional limitation as
a group. We then discuss some related medical
issues; potential treatment approaches; developmental transitioning; quality of life, pain, and depression; and end with a brief section on abuse
and the importance of advocacy as it relates to
mobility limitation and participation in childhood
and adolescence. Throughout the chapter, the
normalization of the developmental experience
of the child with a mobility limitation is considered and explored.
5.2Definition and Prevalence

There is no single, universally accepted definition
of what constitutes a mobility limitation. The impact of a mobility limitation may vary throughout
the life course; however, by definition, mobility
is compromised to some extent. In the 1980s,
the World Health Organization (WHO) defined
a mobility disability as one which stemmed from
A. I. Alriksson-Schmidt and J. K. Thibadeau
impairments in the muscular or skeletal system

resulting in the impediment of locomotion, body
disposition, or dexterity (World Health Organization (WHO) 1980). Since then, WHOs International Classification of Functioning, Disability,
and Health Children and Youth Version (ICFCY) has been developed and offers an important
and relevant conceptual framework. The ICF-CY
allows for a systematic way to document characteristics of health and functioning in children
and youth and provides a shared terminology for
tracking problems and progress which are relevant early in life, such as functions and structures of the body, activities, participation, and
environmental factors (WHO 2007). Mobility,
specifically, is defined in the ICF-CY as moving by changing body positions or location or by
transferring from one place to another, by carrying, moving, or manipulating objects, by walking, running, or climbing, and by using various
forms of transportation (WHO 2007, p.150).
Oftentimes a mobility limitation is thought of
as a functional limitation that affects older persons, not children and adolescents. However,
an important distinction needs to be made between aging into disability and aging with disability (Krahn et al. 2009), and functional and
activity limitations in general are relatively common among youth. Seven percent of US children under the age of 12 years, and 9% of US
adolescents between the ages 1217 years, have
been reported to experience limitations in usual
activities due to one or more chronic conditions
(National Center for Health Statistics 2009), and
12.4 in 1,000 school-age children have reported
functional limitations in the mobility domain
specifically (Msall et al. 2003). Data from the
2000 US Census indicated that one percent of
515-year-old noninstitutionalized civilians were
reported as having a condition that substantially
limits one or more basic physical activities such
as walking, climbing stairs, reaching, lifting, or
carrying (Waldrop and Stern 2003, pp.1). This
percentage is in accordance with other population based survey data measuring serious difficulty walking or climbing stairs among children aged 517 years in the United States (U.S.
Census Bureau 2008). These brief survey items
5 Children and Adolescents with Mobility Limitations
89
provide useful yet limited information and likely

give an underestimation of how many youth in
the United States truly live with a chronic mobility limitation. For example, additional information such as causes and duration of the mobility
limitation can generally not be determined. Reliable international estimates of how many children live with disability are difficult to obtain and
estimates of how many children live with mobility limitations specifically are even more complicated to calculate. Naturally, many countries
have excellent surveillance systems and progressive research agendas, and can and do compute
these types of estimates. Other countries lack the
resources, infrastructure, or will to do so. Therefore, comparisons across countries on prevalence
of disability or certain types of functional limitations are generally very difficult to calculate because of such fundamental differences in concept
and methodology.
a specific condition or disorder. A noncategorical research study, in contrast, would include

children with different medical diagnoses based
on the premise that these children would experience, for instance, similar functional outcomes
and psychosocial stressors (Pless and Pinkerton
1975; Wallander and Varni 1998; Wallander etal.
2003). This recognition of individual variability
within a medical diagnosis and the potential individual invariability among medical diagnoses is
not new (Pless and Pinkerton 1975). Although it
should be acknowledged that medical conditions
certainly have a central biomedical uniqueness,
similarities, such as intrusiveness, pain, visibility,
frequent doctor appointments and missed days of
school, social stigma, and the need of extra family involvement are just some examples of shared
experiences that may shape the long-term life
experiences of children affected by conditions of
different etiologies (Wallander and Varni 1998).
Thus, certain overall characteristics associated
with having a chronic condition or disability
may matter more to a persons psychosocial adjustment and long-term outcome than specific
condition-related variables per se (Lavigne and
Faier-Routman 1993). To think of children with
certain functional limitations as a group, such as
children with mobility limitations for example, is
more consistent with the noncategorical framework in that the focus is not on a specific medical condition but on the impact of the limitation
in mobility. At the same time, certain constraints
and inclusion criteria have been imposed such
that only those with a certain kind of limitation
are included instead of, for example, all children
with special health care needs. The debate about
which approach is the more theoretically sound
and correct is beyond the scope of this chapter. Both approaches have demonstrated scientific merits and whom to include or not largely
depends on the goals of the research. There is
a place and a need for both approaches (Stein
1996).
It is fair to say that although a substantial research literature is available on older persons acquiring mobility limitations, there is a lack of research on children and adolescents with mobility
limitations specifically (Jemt etal. 2005; Alriks-
5.3Theoretical Perspectives
Condition or Function?
The causes of early-onset mobility limitations are
many and varied: Congenital conditions, conditions diagnosed in early childhood, and trauma
encompass the most common types. Spina bifida,
cerebral palsy, juvenile rheumatoid arthritis, neuromuscular disease, different types of skeletal/
joint diagnoses, and peripheral nerve disease
represent some of the most common conditions.
Traumatic injuries such as spinal cord injury
may also result in chronic mobility limitations.
Consequently, children with mobility limitations
are quite heterogeneous as a group in terms of
etiology. From a research perspective, a definition of the study population is important so that
subsequent study findings can be interpreted appropriately. Broadly simplified, two methodological approaches can be discerned in the research
of youth affected by certain types of functional
limitations. These approaches are referred to as
categorical (list-based or condition specific; Perrin etal. 1993) and noncategorical (functional or
generic; Ireys 2001). In this context, a categorical research study would include children with
90
son-Schmidt et al. 2007). Clearly, the ramifications of growing up with a mobility limitation are
quite different from acquiring them at an older
age. For example, having a child with a chronic
condition can result in unremitting stress on the
entire family which is frequently compounded by
multiple surgeries (Vermaes etal. 2008). Collectively, however, children with a mobility limitation tend to have experiences that are even more
similar in nature than the more broadly defined
category of children with special health care
needs because they all live with some level of
impeded locomotion. Most parents can vividly
remember when their child first started crawling,
standing, and walking. Such gross motor developmental milestones may not occur in the same
manner, at the same rate, or at all, in children
with early-onset mobility limitations. Furthermore, mobility limitations, as opposed to, for example, the respiratory restrictions experienced by
a child with asthma, are usually visible and distinguish the child from her peers because of a gait
that may be different from the norm or because
of the use of assistive devices, such as braces
or a wheelchair, which may be required. To not
be able or allowed to participate in activities or
events because of restricted accessibility or attitudes by others likely affects a child with cerebral
palsy in a similar manner as it would a child with
spina bifida or spinal cord injury. Differential
treatment from others whether it is intended or
not, well-meant or not, may affect children with
mobility limitations in a similar manner irrespective of the etiology of their conditions.
We believe that the commonalities among
children living with a mobility limitation warrant
the consideration of them as a group while at the
same time realizing that there are important condition-specific variables that, at times, cannot be
overlooked. This chapter draws on both categorical and noncategorical empirical research. We
distinguish the source of the information whether
from a study focusing on one specific mobility
limiting condition or not.
Many and varied factors contribute to a childs
response and adjustment to living with a mobility
limitation. To predict how any individual child
with a mobility limitation will adapt is compli-
cated and complex to say the least. As an example, psychologically, the child with an acquired
mobility limitation may respond differently from
the child with the mobility limitation from birth
in that there may be a sense of loss, grief, and a
feeling of lost identity (Jemt etal. 2005) that is,
applicable (to the child) with the acquired mobility limitation. Wallander and Varni (1998) outlined in their Conceptual Model of Adjustment
to Pediatric Chronic Physical Disorders pertinent categories of risk or resistance factors that
also have relevance when considering children
with a mobility limitation specifically. These
factors include Disease/Disability (e.g., severity,
visibility, diagnosis); Functional Independence
(e.g., ambulation, communication); Psychosocial
Stress (e.g., major life events, daily hassles); Personal Factors (e.g., temperament, competence,
problem-solving ability); Stress Processing (e.g.,
coping strategies); and Social-Ecological Factors
(e.g., family environment, social support). These
factors are not dissimilar to those in the ICF
framework and are of interest in terms of how an
individual transitions in life to become a participating and content person in her society.
5.4Associated Medical Conditions

While the life expectancy of children with conditions such as spina bifida, cerebral palsy, and
other neurological diagnoses has increased dramatically, their lives are often fraught with secondary conditions or comorbidities, the effects of
which may be more severe than the primary condition (Simeonsson etal. 2002). Secondary conditions have been defined using four criteria. First,
a secondary condition is a direct consequence of
a primary condition. Second, the secondary condition reflects the effects of the interaction of the
person with her environment, the primary condition serving as a risk factor but not sufficient to
account singly for the occurrence of the secondary condition. For example, having a mobility
limitation puts a child at risk for obesity that may
be realized due to the environmental inaccessibility of physical activities at school and in the community. The third criterion to describe secondary
91
conditions is that the variation in the nature and

extent of the expression of secondary conditions
is related to several factors including the age or
developmental stage of the individual: Some secondary conditions are observed in childhood and
others will be more likely observed in adulthood.
The fourth and final criterion is the role that individual traits and characteristics play in mediating the impact of the secondary condition such
as motivation and behavioral style (Simeonsson
etal. 2002). In terms of spina bifida and cerebral
palsy, the majority of children with spina bifida
experience, in addition to orthopedic concerns,
urinary tract infections, and differing levels of
bowel and bladder incontinence. Children with
cerebral palsy often live with spasticity and pain.
Children with a mobility limitation who use a
wheelchair or other assistive device as their form
of mobility or who are not fully weight-bearing
are at increased risk for certain other medical
concerns such as pressure sores, joint overuse,
osteoporosis, contractures, and possibly obesity.
The necessary use of assistive devices for the development of independence and social participation for those with a mobility limitation necessitates a look at the potential secondary conditions that may occur so that the impact may be
minimized.
approach is applauded for the maintenance of

physical strength and for the benefits of energy
expenditure. An approach that considers the values of mobility appropriate for a particular situation, that is, keeping up with peers, navigating
rough terrain, maintenance of joint health, and
the long term social and physical effects should
also be considered for children with a mobility
limitation. Wheel chair propulsion is mechanically inefficient and may result in the overuse injury
of joints (Rodgers et al. 2001). Quality of life,
physical performance, and independence may be
limited by the pain of joint injuries. Wheel chair
use training and a strengthening program specific
to the muscles for wheelchair propulsion may
improve strength and endurance while protecting the shoulder and elbow joints (Rodgers etal.
2001).
There are a number of different recommendations in terms of how to accomplish ambulation and at times, these recommendations differ.
Based on research of children with spina bifida,
Liptak etal. (1992) recommend a combined approach that includes wheeled mobility and the
use of devices that facilitate upright positioning.
Overall, the consideration of the desires of the
family and a thorough evaluation of the childs
mobility status within the family setting and the
community speaks to the value of a multidisciplinary team of health care professionals to guide
the decisions regarding the manner of mobility.
5.4.1Joint Overuse or Misuse

As a general rule, children with a mobility limitation should progress through the expected motor
milestones that include sitting, pulling to stand,
and walking at the expected ages (Szalay 1987).
The goal for the young child may be to ambulate
while ambulation is effective, and, for the older
child, to be mobile, which may entail the use of
a wheelchair. The introduction of the use of the
upper body to provide the thrust for mobility includes the necessity to consider the impact on the
shoulders and elbows of this repeated motion and
the potential for joint overuse. Individuals with
mobility limitations will frequently experience
symptoms of joint overuse and/or misuse.
A therapeutic tenet for mobility is upright and
manual movement for as long as possible. This
5.4.2Insensate Skin and Pressure

Sores
Pressure sores (i.e., decubitus ulcers) are a serious and costly secondary condition that must be
brought to the attention of families early in the
lives of their children who have insensate skin
and mobility limitations. There is a compulsory
need for the lifelong and vigilant management
of the skin among those affected by insensate
skin. Skin breakdown from pressure, hot liquids, and sun exposure is a frequent and costly
occurrence for children who spend a significant
amount of their days in wheelchairs or for those
with insensate skin (Okamoto et al. 1983). In a
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study of individuals with spina bifida ranging in

age from 231 years, Harris and Banta (1990) reported on the incidence of skin breakdown and
room and board hospital costs. The 75 patients
in the study group accumulated 6,237 hospital
days for skin care alone during the 13 years of
the study and the average length of hospitalization was 31 days. The average length of hospitalization decreased over time for the study group
while the number of admissions and the number
of operative procedures per year increased. Okamoto etal. (1983) reported on an analysis of 524
patients with spina bifida seen between the years
of 1960 and 1980. Forty-three percent of the patients had skin breakdown recorded in their medical record at least once on annual evaluation. The
observations included breakdown from pressure;
abrasions due to casts, orthoses, or shoes; lacerations, burns, infection; and severe dermatitis. The
prevalence of skin breakdown increased steadily
from infancy to age 10 years. After 10 years, the
rate of skin breakdown documented in this analysis ranged from 20 to 25% (Okamoto etal. 1983).
The avoidance of the development of pressure sores must be a priority and parents should
be instructed early in their childs life regarding
the details of skin inspection including all areas
where constant pressure or friction may occur.
Children should be included in this effort at an
early age as the care of the skin is a lifetime affair for persons with skin insensitivity and who
use devices that may result in constant pressure
or friction on certain areas of the body.
5.4.3Osteoporosis and Fractures

Osteoporosis is defined by the WHO as a condition that includes low bone mass and the microarchitectural deterioration of bone with a consequent increase in bone fragility and a susceptibility to fracture (World Health Organization 1994).
Osteoporosis in children may be primary or secondary depending on the condition with which
the bone density loss is associated. Primary osteoporosis is typically due to an intrinsic bone
abnormality, usually genetic in origin. Secondary osteoporosis is due to an underlying medical
condition or its treatment (Shaw 2008). Reduced

mobility is one of the factors that may adversely
affect the bone development of a child and increase the risks of the development of osteoporotic fractures (Shaw 2008). In various studies
(Apkon etal. 2008; Quan etal. 1998; Wilmshurst
etal. 1996), children with spina bifida and cerebral palsy have been reported to be at increased
risk of a decreased bone mineral density level
and at increased risk for fractures. In adults, osteoporosis is usually defined based on bone density assessment; however it is not possible to define osteoporosis in children on the basis of bone
density measurements alone (Shaw 2008). The
International Society for Clinical Densitometry
recommends that the diagnosis of osteoporosis
in children should not be made on the basis of
bone density criteria alone but associated with
the presence of a clinically significant fracture
history (The International Society for Clinical
Densitometry 2007). Osteoporosis exists in children with mobility limitations to varying degrees.
Future research is needed to define more accurately preventive steps to be taken to minimize
bone mineral density loss when there is a reduction in muscle use and active weight bearing, and
treatment when the bone is weakened.
5.4.4Contractures
Contractures limit the mobility of joints and
therefore affect the life of the individual (Farmer
and James 2001). In neuromuscular conditions,
immobilization, muscle weakness or paralysis,
and spasticity are the main factors that result in
contractures (Farmer and James 2001). Treatment modalities include stretching, serial plastering, splinting, botulinum toxin injections, electrical stimulation, and surgery. The treatment must
be individualized to the situation and the positive and negative effects considered (Farmer and
James 2001). Youth who do not ambulate or who
ambulate minimally are at greatest risk for contractures (Agre etal. 1987). Habitual sitting results in flexion contractures and those who do sit
habitually can benefit from stretching exercises
(Agre etal. 1987).
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Contractures experienced by children with

cerebral palsy affect posture and function, cause
pain and affect different and important aspects
of life. Sitting for long periods can result in tight
hamstrings which affect the back and thus the sitting posture of the individual. Adequate hamstring
length is necessary for people with cerebral palsy
to stand upright which is the position usually assumed when transferring from the wheelchair to
other surfaces. The inability to stand upright creates challenges for the individual and for the person assisting in activities of daily living. An abnormal sitting posture may affect ones independence
in the performance of activities of daily living as
well as social participation. Avoiding immobility
may contribute to the prevention of contractures.
Participating in programs that include stretching
and flexibility such as yoga and tai chi, swimming,
or formal stretching therapy is believed to help to
maintain joint range of motion and thus minimize
the development of contractures (Ayyangar 2002).
Secondary orthopedic conditions, such as
contractures, occur in children with spina bifida
because of abnormal muscle function around
joints and decreased mobility particularly. Joint
contractures and deformities of the lower extremities occur commonly and include club foot,
calcaneus, and other deformities of the ankle, and
foot, hip, and knee. These joint deformities may
be present at birth or may occur with age. They
may occur in joints with uneven muscle pull or
in joints where all the muscles are paralyzed and
the mode of mobility is the wheel chair (Liptak
2003). Regardless of the specific location of a
contracture or deformity the goals of management for children with spina bifida include: the
maintenance of alignment of the extremities and
joints, the maximization of range of motion, the
stabilization of the spine and extremities, maximized function, freedom from pain and discomfort, and protection of the skin (Liptak 2003).
obesity, utilizing a height/weight ratio is frequently criticized (Ayyangar 2002). Some use
an arm span measure instead of height. Health
habits of diet and physical activity must be introduced at an early age for persons with mobility
limiting conditions as for all the population. A reduction of caloric intake is highly recommended
before the need for a weight loss program has
been realized. In a study of 110 individuals with
spina bifida, those greater than 4 years of age
had a body mass comprised of more fat than lean
mass (Roberts etal. 1991). Furthermore, the percentage of body fat in children affected by spina
bifida increases with age and with decreasing
ambulatory activity. As a way of monitoring for
the development of obesity, it is recommended
that regular measures of body composition be
taken to include: weight, supine length, arm
span, and skin folds (biceps, triceps, subscapular,
and suprailliac; Roberts etal. 1991). Grogan and
Ekvall (1999) recruited children with spina bifida
and a control group to participate in a small study
on obesity. Body composition of the subjects was
measured including potassium content, urinary
creatinine, and anthropometry measurements at
the beginning of the study period and again at 6
months. Dietary and physical activity goals were
taken from the patients after discussion of the
goals with the family. Lean body mass in children with spina bifida was ~50% that of the control group. Thorax and abdominal skinfolds and
waist measurement correlated with the body fat
percentage. Subscapular skinfold measurements
correlated poorly with the percentage of fat.
The caloric intake requirement to maintain
adequate growth of a child with spina bifida was
found to be ~50% of the daily recommended allowance for a child without spina bifida of the
same age. Changes in lean body mass were observed in children with spina bifida who increased
physical activity over the 6-month period, more
than in those who reduced caloric intake alone,
though not significantly. Therefore, beginning
at infancy, since physical activity increases lean
body mass or active muscle tissue and thus caloric requirements, exercise such as swimming
and self movement may be a contributing factor
in the avoidance of childhood obesity. As a child
5.4.5 Obesity
Any condition that is associated with reduced
physical activity is associated with a risk of obesity (Ayyangar 2002). The method to calculate
94
ages and activity oriented developmental milestones are anticipated such as crawling and walking, activity levels for the child with mobility
limitations should be increased. Waist measurements may be taken at home and serve as a self
measure of weight monitoring and maintenance
(Grogan and Ekvall 1999).
In a study of 62 adults with spinal cord injury of at least 12-month duration, (Stevens etal.
2008), the level of physical activity significantly
predicted quality of life when injury level, time
since injury, and completeness of injury were
controlled. Encouragement by parents and health
care professionals for significant levels of physical activity in children with physical disabilities
is important both from the perspective of quality
of life and the relationship of physical activity to
the management of obesity (Dosa etal. 2009).
5.5Treatment Philosophies and

Approaches
In addition to potential surgery, most children
with a mobility limitation undergo some type of
treatment to improve their function and mobility.
This treatment is often supervised by a physical
or occupational therapist either working as part
of a larger multidisciplinary team or independently with the family. Many clinics have or are
in the process of adopting a family-centered service which is based on the premise that parents
know their children best. The principles underlying a family-centered philosophy acknowledge
that families are different and unique and that the
functioning of the child is best achieved within
the context of a supportive family and community (Law etal. 2007). A therapist in this context
is considered to be one of many valuable collaborators in the childs care and not necessarily the
authority when it comes to knowing what is best
and appropriate for the child. Focusing on the
goals of the child as expressed by the family in
conjunction with the professionals involved with
the childs care can result in an environment that
can identify functional goals at the level of activity and participation rather than exclusively at
the level of impairment. This approach facilitates
an exploration of all treatment options including changes in the task and in the environment
so that the best results can be achieved. This approach differs from, for example, a more traditional neurodevelopmental treatment approach
which is an often used treatment technique in
the United States to treat children with mobilitylimiting conditions, such as cerebral palsy. In
simple words, the therapists working from a neurodevelopmental point of view focus on inhibiting abnormal posture and movement to improve
the childs quality and efficiency of movement
by encouraging typical patterns of movement.
The underlying assumption being that typical
patterns of movement will lead to functional improvements and reduce activity limitations and
increase participation. It has been suggested that
by using this approach, the therapist may not
explore all options for functional and long-term
success (Law etal. 2007) and that compensatory
movements and environmental adaptations may
be more efficient solutions for motor challenges
faced by children with mobility limitations.
An important issue for children with a mobility
limitation is that of walking versus use of another
compensatory means for mobility. The question
of whether, when, for how long to ambulate, and
for whom ambulation is an appropriate goal is an
issue evoking many varying views (e.g., Shurtleff 1986; Mazur et al. 1989). Conventionally
in childhood, ambulation, whatever the time cost
and strain involved, has been the ultimate goal.
Along those lines, there has traditionally been
some resistance to the use of assistive technology
among children (Henderson etal. 2008). Among
parents and clinicians alike there are differing
views about the pros and cons of using powered,
manual, or no wheelchair at all. In adolescence,
mobility and keeping pace with peers is central to
participation in life, and minimizing differences,
and integrating therapies with the social needs,
and interests of the adolescent. Overall, remediation techniques target a problem at the level of
impairment; adaptation involves modifications
to the environment to facilitate access; and compensation involves the use of assistive devices to
circumvent the functional impairment (Henderson etal. 2008). A change has been noted among
95
therapists and other professionals straying from

a focus of using remediation techniques toward
the newer approach of making use of adaptations
or compensations. No one solution will fit every
child or family. Thus, many variables need to
be taken into account when a decision is made
whether and when a child is encouraged to use
a wheelchair. The wish of the child also needs to
be considered.
realize participation through involvement in age

appropriate situations. However, as a mobility
limitation may challenge certain aspects of typical development, the timely consideration and
monitoring of developmental milestones from
infancy and throughout adolescence is particularly important. Domains that may warrant extra
attention when a key life function such as mobility is impaired include: health and condition
self management (if applicable); physical activity and nutrition; relationships with family and
friends; learning and the school experience; and
eventually, preparation for employment (e.g.,
Thibadeau et al. 2010). These specific domains
were considered to be of particular importance
for children with spina bifida as determined by
the National Spina Bifida Program at Centers for
Disease Control and Prevention (CDC) in close
collaboration with a group of recognized national
experts on spina bifida. In general, these domains
are also relevant to children who are affected by
other childhood onset complex disabling conditions with or without motor impairment. Health,
self management, relationships with family and
friends, learning and the active engagement in a
productive adult role all contribute to the ability
of a person to participate successfully in living as
an adult (Lollar 2010). The presence of a mobility limitation, however, can result in less focus on
or a changed expectation of usual development.
For example, if the mobility limitation is brought
on by a complex underlying condition, competing medical issues may supersede the basics of
child development and care.
Consequently, the healthcare professionals
may be occupied with the immediate and at times
critical medical needs of the child. Families, in
turn, may be preoccupied with the additional
issues that demand immediate attention and require a continuous and sometimes draining effort on their parts. Therefore, the close support
and continuous monitoring by a developmentally
trained primary care health care professional (or
other appropriate discipline) whose main role is
to attend to the usual child development issues
can be very valuable. Explicitly addressing the
developmental issues that are impacted early on
and working with families and support systems to
5.6Developmental Transition
All children benefit from growing up in safe,
stable, and loving conditions withat a minimumtheir basic developmental needs fulfilled.
This is also the case, of course, for the child who
has a chronic mobility limitation. Further, the essentials and importance of a childs development
that facilitates the achievement of independence,
self sufficiency, and a satisfactory quality of living throughout life cannot be overemphasized.
When a child is growing up with a compromised
mobility, the focus needs to be on the child as a
child first and as a child with a mobility limitation (and possibly a complex medical condition)
second. Every child should have the opportunity
to experience life in ways that are respectful of
the individual, promote self reliance, and facilitate active participation in the community (Office of the United Nations High Commissioner
for Human Rights 1990). The UN Convention on
Rights of Persons with Disabilities (United Nations Enable 2006) underscores the importance
for children with disabilities to play, participate
in sports activities and cultural events, including those in the school system. Furthermore, the
child must be viewed in the context of the family
system, especially in the developmental phases
of childhood when family interactions have the
greatest influence.
5.6.1Development
The attainment of the usual developmental milestones should be considered from birth and consistently throughout the life course in order to
96
facilitate typical development related to mobility

will set the stage for a timely gradual transfer of
responsibility for self from parent to the adolescent and later young adult. This process must be
ongoing, beginning early in the life of the child
with the appropriate support and guidance of professionals. Using the ICF as a framework can be
helpful in this process.
A milestone that is affected by a mobility limitation is the development of motor skills in early
childhood (with the exception of an acquired
mobility limitation later in childhood). Self-produced locomotion in the young child is the primary vehicle for exploration, learning, socialization, and contributes to independence and feelings of self-confidence (Butler etal. 1983). The
first several years of life constitute the time when
the urge to move becomes dominant and when
rapid movement becomes an important vehicle
for learning and coping with the outside world
(McDermott and Akina 1972). This is also the
time when children want to do things for themselves, and when physical ability is essential for
the development of independence and autonomy.
Mobility is associated with the development of
cognitive and perceptual skills related to the independent movement of a child in her environment
and the need to negotiate obstacles and find her
way. In a small longitudinal study regarding the
role that active self-produced movement plays in
infants spatial orientation, it was concluded that
at 12 months, the infants who moved on their own
were more likely to orient spatially. The study authors suggested that children who moved on their
own seemed to be more attentive to their environment (Acredolo etal. 1984). The point has been
made, however, that what is important is mobility
and not necessarily ambulation (Shurtleff 1986).
Shurtleff (1986) defined effective mobility as the
effective and efficient moving about that allows a
person to go easily from one place to another, explore the environment, and independently pursue
interests and work throughout life. Movement
with the goal of independently managing ones
life responsibilities and exploring ones environment is more important than walking in an upright position (Shurtleff 1980).
It is also important for the growing child to

develop self-esteem. Self-esteem, in simple term,
refers to a persons belief of his or her worth or
value as a person (Shields etal. 2007). Researchers have been interested in understanding whether youth with a disability have lower levels of
self-esteem compared to their peers. In a small
study on youth (ages 918 years) with cerebral
palsy, scores of self-esteem measures were comparable to norm samples of adolescents without
a disability. Overall, girls, and those perceiving
a greater impact of the disability, reported lower
scores on self-esteem (Manuel etal. 2003). Canadian adolescents with a variety of mobility limiting physical conditions (e.g., spina bifida, adolescents with amputation, cerebral palsy, muscular dystrophy, juvenile rheumatoid arthritis,
arthrogryposis) reported good self-esteem, strong
family relationships, and as many close friends as
adolescents in the national sample (Stevens etal.
1996). However, the adolescents with a physical
disability reported that they participated in significantly fewer social activities and had less intimate relationships with their friends. Having an
acquired mobility limitation and the presence of
pain were related to lower levels of self-esteem in
a Swedish study of children and adolescents with
mobility impairment (Jemt etal. 2009).
Another area of development that warrants
special mention is sexual development. Disabilities acquired early may affect sexual development in terms of gender roles, sexual language,
privacy, and self-exploration and may possibly
be related to whether or not sex education is received. A child with a disability or limitation may
experience limitation in opportunities to explore
their bodies in naturally occurring private moments (Cole and Cole 1993). It has been suggested that such a lack of privacy can affect a childs
perception of his or her body, its function, and
personal boundaries regarding appropriate or inappropriate touch (Cole and Cole 1993, p.191).
Learning about sex generally occurs both formally and informally. The informal learning comes
in part from young people interacting together,
opportunities that may be limited for children
with physical disabilities. Limited social interaction may place a childs sexual development at
97
risk (Neufeld etal. 2002). Furthermore, touch is

a major element in human development, a sensory experience that is complicated for children
with disabilities because of the potential need
for assistance with movement or positioning.
Children with chronic childhood conditions may
experience more handling for assistance than
that for cuddling and tenderness. Health care professionals also frequently display insensitivity to
the personal boundaries of children for whom
they are caring by not negotiating the privacy of
the child and demonstrating respect and consideration for her. Furthermore, the ways in which
children learn about their bodies may be different
for those with a disability due to sensory limitations, lack of privacy, the need for assistance, and
possibly by the discouragement of these activities by others.
Sexual education must be very intentional in
providing the means for the healthy sexual development of children with early onset physical
disabilities. The lack of basic sex education and
information makes a sexually active young person vulnerable to sexually transmitted diseases
and unwanted pregnancy. The availability of
pregnancy prevention information and recommendations regarding the avoidance of sexually
transmitted diseases should be made available
for all persons including those with disabilities
(Cole and Cole 1993). Some researchers have
indicated that there is a disparity between adolescents with physical disabilities and their peers
without physical disabilities in terms of receiving sexual education. For example, based on a
nationally representative survey in Canada, the
majority of adolescents with physical disabilities reported that they had not received information on parenthood, birth control, and sexually
transmitted diseases (Stevens et al. 1996). This
finding, however, stands in contrast with other
research findings on sexual behaviors among
US adolescents. Investigating sexual behaviors
using a nationally representative survey sample,
adolescents with a physical disability (primarily
limb deficiency) experienced pubertal development later and were more socially isolated than
those adolescents who did not report a physical
disability. Nevertheless, it was also found that
the adolescents with a physical disability were as

sexually experienced and had received as much
sexual education as their counterparts without a
physical disability (Cheng and Udry 2002).
5.6.2Environment
The section on development places a strong emphasis on person factors. Functional performance and participation in society is, of course,
the result of the dynamic interaction of many
factors, certainly not just those associated with
the impairment of the child. The social model of
disability (as opposed to the medical model) suggests that it is the social, attitudinal, and physical
environments that create problems and prevent
people with disabilities from participating in society (e.g., Lawlor etal. 2006; Oliver 1996). In
a British qualitative study addressing physical,
social, and attitudinal environmental barriers and
facilitators of participation in children with cerebral palsy, certain overarching themes emerged
(Lawlor et al. 2006). Barriers were reported in
regards to mobility (e.g., steps, lack of lifts, poor
path surfacing), transport (e.g., lack of suitable
parking spaces, lack of physical access to public transportation), support by (or lack of) and to
parents, attitudes of individuals (e.g., staring and
patronizing attitudes of strangers) and services
(e.g., poor institutional attitudes; Lawlor et al.
2006). Emerging themes in terms of facilitators
included an adapted home environment, respite
care for parents, equipment and structural adaptations, and parental promotion of the childs independence (Lawlor etal. 2006). Lack of accessibility can result in social isolation, participation
in passive activities such as computer games, and
watching other children play (Prellwitz and Skr
2006) as opposed to actively participating. In a
Swedish study of children and adolescents with
mobility limiting conditions, the majority perceived that they had relatively good accessibility
in their homes but worse accessibility outside of
the home. An important distinction between accessibility and usability was made (Prellwitz and
Skr 2006). Although a child may be able to enter
the kitchen in a wheelchair with little problem
98
(i.e., accessibility), she may not be able to reach

or use the equipment in the kitchen and therefore
would still be limited in performing the activities
by herself (i.e., usability). Both accessibility and
usability need to be addressed in order to facilitate participation.
5.6.3Family and Parenting

Being a parent comes with challenges, yet at
most times raising a child is extremely rewarding. Raising a child with a mobility limitation
will require additional efforts on the part of the
parents not only in terms of attention to be paid
to extra medical care and interventions but also
in the planning for the child to be involved in
age-appropriate activities and the fostering of
age-appropriate independence. How parents
(and siblings) react to having a child with a mobility limitation varies widely. Although at face
value it would seem to be more stressful to raise
a child with a chronic condition, whether it affects mobility function or not, this is not always
what families report. In a Dutch study of children
with spina bifida and their parents, mothers, in
particular, reported higher levels of stress than
did parents of children without spina bifida (Vermaes etal. 2008). In addition, mothers reported
feeling less competent. Certain traits, such as
extraversion (mother) and emotional stability
and agreeableness (father) were associated with
lower levels of parenting stress (Vermaes et al.
2008). Overall, parental personality traits were
more predictive of parenting stress than were the
childs physical dysfunctions.
It is important for parents of children with a
mobility limitation to expect, plan, and prepare
from an early start for their child to have an adult
life with independence, social relationships, participation, and a meaningful way to participate in
adult life. At times, such extra planning may not
be indicated and the child with a mobility limitation may prosper without receiving special consideration. However, more often than not, such
intentional early planning will benefit the child.
Part of this planning includes finding activities
that are appealing and challenging, yet achiev-
able, in order to set the child up for success.

Like any child, a child with a mobility limitation
needs to be exposed to different types of activities with realistic expectations of the childs ability to participate. Many times, adaptation of the
surroundings may facilitate the accomplishment
of a desired activity. Open communication, goal
setting, tracking progress, and modifying the environment as needed may be helpful to any person trying to accomplish what they set out to do.
It can be challenging for parents to strike a
balance between providing support that is truly
needed while at the same time not impeding the
childs development towards age-appropriate independence. If the mobility limitation is caused
by a serious underlying condition such as spina
bifida, the parents close monitoring, advocacy,
and care coordination will be vital. It may then
be difficult to know when and how to let go of
some of the responsibilities. Independence and
self sufficiency may not occur however for a
child with a mobility limitation without expectation, planning, and taking the necessary steps
to facilitate progress in these areas. The parents
and the child will need support in the transfer of
appropriate amounts and kinds of responsibilities
with the realization that although progress will
occur, at times temporary setbacks are also likely
to happen. When asking a group of adolescents
and young adults with spina bifida and cerebral
palsy about their parents, roughly a quarter of the
adolescents with spina bifida and one-third of the
adolescents with cerebral palsy perceived their
parents to be what was labeled as overprotective. This over protectiveness was described
as excessive assistance, the recommendation of
the avoidance of activities, constant vigilance,
and constant reminders to complete the self-care
activities (Blum et al. 1991). In addition, virtually no adolescent-parent conflict was noted and
the vast majority of adolescents reported parental closeness (Blum etal. 1991). This finding of
low levels of parent-adolescent conflict has been
replicated in more recent studies on children
with spina bifida (e.g., Jandasek etal. 2009) and
strong family relationships have been noted in
studies of children with different types of physical disabilities (e.g., Stevens etal. 1996). Parents
99
of adolescents with spina bifida acknowledged,

in a separate study, the difficult balancing act
of wanting to protect and keep their adolescents
safe with the perceived need to push or guide
the adolescent towards independence (Sawin
etal. 2003). Other research reports also suggest
that children with spina bifida were more likely
to be over protected than the children in a control group who did not have spina bifida.
The childs cognitive ability served as a mediator. Across groups, mothers were more likely
to be considered overprotective than the fathers
(Holmbeck etal. 2002). This likely has to do with
the fact that the mother in the majority of families still is the person in charge of care and child
rearing. In a Canadian study of adolescents with
physical disabilities, 68% reported that they felt
overprotected (Stevens etal. 1996). Clearly, not
all parents with children and adolescents with a
mobility limitation struggle with the balancing
act of providing appropriate and needed amounts
of support. However, parents themselves may
benefit from ongoing support to foster these
changes in parenting that allow for the achievement of typical developmental goals of adolescence on the heels of a child that has required
extraordinary care since birth or early childhood.
outcomeif not the ultimate goal. It should be

noted however that data do not necessarily support a direct relationship between objective measures of participation and subjective well-being
(van Campen and Iedema 2007).
Although most would agree that quality of life
is important, fewer agree on what quality of life
actually is. Some version of WHOs definition of
quality of life is frequently used and it pinpoints
the importance of individual perception, context
of culture and value system, and goals, expectations, and concerns (WHOQoL Group 1993).
Overall, there are two schools of thought in terms
of quality of life; health-related and overall/generic quality of life (e.g., Wallander and Varni 1998;
Waters etal. 2009). Many measures of quality of
life include both subjective and objective components. Subjective factors may measure, for example, satisfaction with life as opposed to objective
factors which pertain to more factual information
about ones life (Alriksson-Schmidt etal. 2007).
Common domains in pediatric measures of quality of life are emotions, medical treatments, social
interactions, cognition, activities, family, school,
pain, independence/autonomy, future, leisure, behavior, and body image (Davis etal. 2006). It has
been suggested that function not be included in
measures of quality of life as it is not possible to
estimate a patients distress by accumulating their
range of problems (Waters etal. 2009, p.662).
There is no consensus of how children with mobility limitations fare in terms of quality of life
or well-being which is not surprising in light of
the fact that quality of life is a multifaceted construct comprised of many differently measured
domains. Researchers, clinicians, and the general
public have traditionally assumed that persons
with disabilities unquestionably experience poor
quality of life. However, such an assumption
cannot be taken for granted. Many individuals
living with disabilities do not share this opinion
and results from research often reflect this. This
phenomenon is sometimes referred to as the disability paradox (Albrecht and Devlieger 1999).
In a Taiwanese study of adolescents with a
physical disability which primarily impeded
motor or locomotion skills, no significant differences were found on objective measures of qual-
5.7Quality of Life, Pain and

Depression
In addition to the medical conditions that are
more likely to occur among children with a mobility limitation, it is important to also consider
other nonphysical domains that may possibly be
affected. It needs to be reiterated that though, on
average, children with a mobility limitation are
at increased risk of experiencing certain secondary conditions, having a disability does not equal
having poor health (e.g., Krahn etal. 2009). As
an example, research with adults with spinal
cord injury indicated that being able to walk and
climb did not predict self-rated health and what
appears important is the ability to carry out ones
roles regardless of how that is, accomplished
(Krahn etal. 2009, p.582). Furthermore, participation in society is often viewed as a desirable
100
ity of life. In fact, the adolescents with a physical disability reported higher scores on subjective measures of quality of life compared to the
control group of adolescents without a physical
disability (Jau-Hong et al. 2009). An age effect
was noted however, and there was a drop in quality of life scores among older adolescents in the
group of adolescents with a physical disability,
a drop that was not noted in the control group
(Jau-Hong et al. 2009). Researchers found that
the majority of a group of Swedish adolescents
with primarily congenital mobility limitations
reported relatively high scores on a measure of
well-being. On average, the adolescents who reported lower scores were more likely to be older,
live with a single parent, be a first-generation
immigrant, experience pain, and have acquired
mobility limitations. Type of medical diagnosis,
the presence of additional conditions or disabilities, level of motor capacity, or independence in
activities of daily living were not significantly related to reported level of well-being (Jemt etal.
2005). Among children and adolescents with ambulatory cerebral palsy, physical function or age
of the child were not significantly related to psychosocial well-being as reported by parents. Nevertheless, when the study scores were compared
to normative data, the children and adolescents
with cerebral palsy scored significantly lower on
psychosocial well-being (Pirpiris etal. 2006). A
high level of variability was found in scores of
quality of life in a group of school-aged children
with cerebral palsy in a separate study (Majnemer et al. 2007). Activity limitations, including
motor, activities of daily living, communication,
and socialization were associated with physical
but not psychosocial well-being, whereas behavioral difficulties were associated with psychosocial well-being. Demographic variables such as
age, gender, and family income were not associated with quality of life and high parental stress
and poor family coping were negatively associated with child quality of life (Majnemer et al.
2007). Among adults with spinal cord injury,
level of physical activity has been more strongly
associated with quality of life than anatomical
level of the injury, the completeness of the injury,
and time since injury (Stevens etal. 2008).
Another important domain to consider when

considering quality of life is pain. Pain is often
reported among youth overall (Gold etal. 2009),
however, those with mobility limitations appear
to be at an increased risk of experiencing pain
(Berrin etal. 2007; Jemt etal. 2005). The lack
of research on youth with mobility limitations in
general is apparent in terms of studies on pain as
wellby far, most pain research has been conducted with adults. Although the pain experience
in youth is likely different from that of adults,
valuable information can still be gleaned from
research on pain in the adult population. Among
Norwegian adults with cerebral palsy, one-third
reported experiencing chronic pain compared to
about 15% of the general Norwegian population
(Jahnsen et al. 2004). Pain is also a significant
predicament for children with cerebral palsy
(Roscigno 2002; Russo etal. 2008) and in children with other mobility-limiting conditions. The
majority of the adolescents in Jemt etal. (2005)
study on well-being among Swedish adolescents
with mobility limitations reported pain. These results are in concurrence with those from a study
on youth with spina bifida, of whom 56% reported experiencing pain at least once a week (Clancy etal. 2005). Unresolved pain has many direct
or indirect negative consequences and has been
correlated with, for instance, a lag in school progress and independence, and less school and peer
group involvement (Eccleston etal. 2008) and it
has been found to increase the risk of depression
(Bair etal. 2003) and lower levels of quality of
life and self-perception (Russo etal. 2008). Pain
can produce feelings of vulnerability and fear
and has been described as a lonely experience
(Albrecht and Devlieger 1999). Fatigue, often
highly correlated with pain, may result in the
child needing to rest and being less willing or interested in participating in activities (Gold etal.
2009). Pain being indirectly related to less participation is a finding of significance. Mobility
limitations already pose a threat to participation
because of other factors such as inaccessibility
(Prellwitz and Skr 2006) and possibly stigma.
Pain may present one additional barrier in terms
of participation among adolescents with a mobility limitation.
101
That youth with a mobility limitations should

be at higher risk of depression has not been consistently validated. Additional factors in a childs
life may be more predictive of depression than
the presence of a mobility limitation per se. It is
known, for example, that females are at a higher
risk of depression than are males. Populationbased studies have shown that starting at about
age 15, females experience rates of depressive
symptomatology and clinical depression that are
about twice as high as males (Galambos et al.
2004; Hankin et al. 1998; Poulin et al. 2005).
Higher levels of depressive symptomatology are
often reported by adults with physical disabilities
however (Coyle etal. 2000; Hughes etal. 2005).
Similarly, a metaanalysis showed an increased
risk of internalizing and other psychological adjustment problems in adolescents with different
physical conditions (Lavigne and Faier-Routman
1993). British researchers found no difference
on self-reported depression, anxiety, and behavior scores between 7 and 18-year-old youth with
juvenile idiopathic arthritis and the norm group
(Ding etal. 2008). More severe physical disability was associated with poor psychological outcome (Ding etal. 2008).
toileting and bathing may result in confusion in

what is appropriate touching and care and what
may be considered abusive. Parents need to be
made aware of this potential threat. This may
enhance efforts to prevent/educate about sexual
abuse and possibly decrease the likelihood that
abuse will occur.
No one grows up in a vacuum and the importance of the physical surroundings and societal
attitudes to which a person is exposed are second
to none. Throughout the life of a child with a mobility limitation, the vigilant watchfulness by parents regarding their childs participation in usual
childhood opportunities such as play; access to
places and events; school experiences (learning,
sports, relationships, field trips); out of school
relationships and exploration of interests; independence in adolescence: mobility, relationships,
and career explorations must be encouraged and
an effective approach to advocacy developed. It
is unfortunately the rule rather than the exception that children with a mobility limitation will
at some time in their lives experience barriers to
participation in a desired or necessary activity. As
the child becomes older, what was originally a
role for parental advocacy will shift and become
self-advocacy on the part of the person with a
mobility limitation. To know ones own condition, capabilities, and not the least ones legal
rights, facilitates when to ask for assistance and
when to graciously reject it, and when to request
needed accommodation so as to experience life
with minimal limitations and barriers.
5.8Abuse and Advocacy

The possibility of sexual abuse (and other types of
abuse) also needs to be mentioned. Sexual abuse
affects all children, yet children and adolescents
with disabilities appear to be at increased risk due
to the complexities of disability, and additional
dependence on others for care. Cole (1986) found
that children were more likely to be victimized if
they were at a disadvantage in physical, mental,
and social skills compared to their peers. It has
been reported that adolescent girls with physical
disabilities (primarily affecting mobility) are at
increased risk of experiencing forced sex (Cheng
and Udry 2002; Alriksson-Schmidt etal. 2010).
If this holds true also for boys with physical disabilities, further investigation is needed as most
surveys on sexual violence and abuse exclude
males. The need for assistance in activities of
daily living and personal care activities such as
5.9Conclusion and Summary

Raising a child with a mobility limitationoften
associated with the sequelae of a chronic childhood conditionprovides challenges and opportunities for the parents, the family, and the
health care providers. This chapter has attempted
to highlight the importance of a life course approach to addressing these challenges and taking advantage of the opportunities afforded one
in raising a child. The challenges named herein
are not inclusive of all that a child with a mobility limitation may experience and consideration
102
of those explored will assist the family and the

health care professionals in supporting the child
to realize a life of greater health and participation. Along the same lines, not all children with
a mobility limitation will be experiencing problems. The opportunities that come to parents in
assisting and advocating that their child develop
fully and successfully are the same for a child
with and without a mobility limitation. A child is
a child first and attention to this concept is key in
the development of an adult who has the freedom
and capacity to live life as he or she desires.
References
Acredolo, L. P., Adams, A., & Goodwyn, S. W. (1984).
The role of self-produced movement and visual tracking in infant spatial orientation. Journal of Experimental Child Psychology, 38, 312327.
Agre, J. C., Findley, T. W., McNally, M. C., Habeck, R.,
Leon, A. S., & Stradel, L. (1987). Physical activity
capacity in children with myelomeningocele. Archives
of Physical Medicine and Rehabilitation, 66, 372377.
Albrecht, G. L., & Devlieger, P. J. (1999). The disability
paradox: High quality of life against all odds. Social
Science and Medicine, 48, 977988.
Alriksson-Schmidt, A. I., Wallander, J. L., & Biasini, F.
J. (2007). Quality of life and resilience in adolescents
with a mobility disability. Journal of Pediatric Psychology, 32, 370379.
Alriksson-Schmidt, A. I., Armour, B. S., & Thibadeau, J.
K. (2010). Are adolescent girls with physical disabilities at increased risk for sexual violence? Journal of
School Health, 80, 361367.
Apkon, S., Fenton, L., & Coll, J. (2008). Bone mineral
density in children with myelomeningocele. Developmental Medicine and Child Neurology, 51, 6367.
Ayyangar, R. (2002). Health maintenance and management in childhood disability. Physical Medicine and
Rehabilitation Clinics of North America, 13, 793821.
Bair, M. J., Robinson, R. L., Katon, W., & Kroenke,
K. (2003). Depression and pain comorbidity: A literature review. Archives of Internal Medicine, 163,
24332445.
Berrin, S. J., Valcarne, M. A., Varni, J. W., Burwinkle, T.
M., Sherman, S. A., Artavia, K., et al. (2007). Pain,
fatigue, and school functioning in children with cerebral palsy: A path-analytic model. Journal of Pediatric
Blum, R. W., Resnick, M. D., Nelson, R., & St. Germaine,
A. (1991). Family and peer issues among adolescents
with spina bifida and cerebral palsy. Pediatrics, 88,
280285.

Butler, C., Okamoto, G. A., & McKay, T. M. (1983). Powered mobility for very young disabled children. Developmental Medical and Child Neurology, 25, 472474.
Cheng, M. M., & Udry, J. R. (2002). Sexual behaviors of
physically disabled adolescents in the United States.
Journal of Adolescent Health, 31, 4858.
Clancy, C. A., McGrath, P. J., & Oddson, B. E. (2005).
Pain in children and adolescents with spina bifida.
Developmental Medicine and Child Neurology, 47,
780784.
Cole, S. S. (1986). Facing the challenges of sexual abuse
in persons with disabilities. Sex and Disability, 7,
7188.
Cole, S. S., & Cole, T. M. (1993). Sexuality, disability,
and reproductive issues through the lifespan. Sex and
Disability, 11, 189205.
Coyle, C. P., Santiago, M. C., Shank, J. W., Ma, G.
X., & Boyd, R. (2000). Secondary conditions and
women with physical disabilities: A descriptive study.
Archives of Physical Medicine and Rehabilitation, 81,
13801387.
Davis, E., Waters, E., Mackinnon, A., Reddihough, D.,
Kerr Graham, H., Mehmet-Radji, O., et al. (2006).
Pediatric quality of life instruments: A review of the
impact of the conceptual framework on outcomes.
Developmental Medicine and Child Neurology, 48,
311318.
Ding, T., Hall, A., Jacobs, K., & David, J. (2008). Psychological functioning of children and adolescents
with juvenile idiopathic arthritis is related to physical
disability but not to disease status. Rheumatology, 47,
660664.
Dosa, N. P., Foley, J. T., Ekrich, M., Woodall-Ruff, D.,
& Liptak, G. S. (2009). Obesity across the lifespan
among persons with spina bifida. Disability and Rehabilitation, 31, 914920.
Eccleston, C., Wastell, S., Croombez, G., & Jordan, A.
(2008). Adolescent social development and chronic
pain. European Journal of Pain, 12, 765774.
Farmer, S. E., & James, M. (2001). Contractures in
orthopaedic and neurological conditions: A review of
causes and treatment. Disability and Rehabilitation,
23, 549558.
Galambos, N. L., Leadbetter, B. J., & Barker, E. T. (2004).
Gender differences in and risk factors for depression
in adolescence: A 4-year longitudinal study. International Journal of Behavioral Development, 28, 1625.
Gold, J. I., Mahrer, N. E., Yee, J., & Palermo, T. M.
(2009). Pain, fatigue, and health-related quality of life
in children and adolescents with chronic pain. Clinical
Journal of Pain, 25, 407412.
Grogan, C. B., & Ekvall, S. M. (1999). Body composition of children with myelomeningocele, determined
by 40K, urinary creatinine and anthropometric measures. Journal of the American College of Nutrition,
18, 316323.
Hankin, B. L., Abramson, L. Y., Moffitt, T. E., Silva, P.
A., McGee, R., & Angell, K. E. (1998). Development
of depression from preadolescence to young adulthood: Emerging gender differences in a 10-year longi-
103
tudinal study. Journal of Abnormal Psychology, 107,

128140.
Harris, M. B., & Banta, J. V. (1990). Cost of skin care in
the myelomeningocele population. Journal of Pediatric Orthopedics, 10, 355361.
Henderson, S., Skelton, H., & Rosenbaum, P. (2008).
Assistive devices for children with functional impairments: Impact on child and caregiver function. Developmental Medicine and Child Neurology, 50, 8998.
Holmbeck, G. N., Johnson, S. Z., Wills, K. E., McKernon,
W., Rose, B., Erklin, S., etal. (2002). Observed and
perceived parental overprotection in relation to psychosocial adjustment in preadolescents with a physical
disability: The mediational role of behavioral autonomy. Journal of Consulting and Clinical Psychology,
70, 96110.
Hughes, R. B., Robinson-Whelen, S., Taylor, H. B., Peterson, N. J., & Nosek, M. A. (2005). Characteristics of
depressed and nondepressed women with physical disabilities. Archives of Physical Medicine and Rehabilitation, 86, 473479.
Ireys, H. T. (2001). Epidemiology of childhood chronic
illness: Issues in definitions, service use, and costs.
In H. M. Koot & J. L. Wallander (Eds.), Quality of life in child and adolescent illness: Concepts,
methods and findings (pp. 123147). East Sussex:
Brunner-Routledge.
Jahnsen, R., Villien, L., Aamodt, G., Stanghelle, J. K., &
Holm, I. (2004). Musculoskeletal pain in adults with
cerebral palsy compared with the general population.
Journal of Rehabilitation Medicine, 36, 7884.
Jandasek, B., Holmbeck, G. N., DeLucia, C., Zebracki,
K., & Friedman, D. (2009). Trajectories of family
processes across the adolescent transition in youth
with spina bifida. Journal of Family Psychology, 23,
726738.
Jau-Hong, L., Yun-Huei, J., Shwn-Jen, L., Chien-Hung,
L., Hui-Yi, W., Ya-Ling, T., etal. (2009). Do physical
disabilities affect self-perceived quality of life in adolescents? Disability and Rehabilitation, 31, 181188.
Jemt, L., Dahl, M., Fugl-Meyer, K. S., & Stensman, R.
(2005). Well-being among children and adolescents
with mobility impairment in relation to demographic
data and disability characteristics. Acta Paediatrica,
94, 616623.
Jemt, L., Fugl-Meyer, K. S., berg, K., & Dahl, M.
(2009). Self-esteem in children and adolescents with
mobility impairment: Impact on well-being and coping strategies. Acta Paediatrica, 98, 567572.
Krahn, G. L., Suzuki, R., & Horner-Johnson, W. (2009).
Self-rated health in persons with spinal cord injury:
Relationship of secondary conditions, function and
health status. Quality of Life Research, 18, 575584.
Lavigne, J. V., & Faier-Routman, J. (1993). Correlates
of psychological adjustment to pediatric physical
disorders: A meta-analytic review and comparison
with existing models. Journal of Developmental and
Law, M., Darrah, J., Pollock, N., Rosenbaum, P., Russell,
D., Walter, S. D., etal. (2007). Focus on functiona
randomized controlled trial comparing two rehabilitation interventions for young children with cerebral
palsy. BMC Pediatrics, 7, 31. http://www.ncbi.nlm.
nih.gov/pubmed/17900362. Accessed 3 Aug 2010.
Lawlor, K., Mihaylow, B., Welsh, S., Jarvis, S., & Colver,
A. (2006). A qualitative study of the physical, social,
and attitudinal environments influencing the participation of children with cerebral palsy in northeast England. Pediatric Rehabilitation, 9, 219228.
Liptak, G. (Ed.). (2003). Evidence-based practice in spina
bifida: Developing a research agenda. Washington:
Spina Bifida Association of America.
Liptak, G. S. Shurtleff, D. B., Bloss, J. W., Baltus-Hebert,
E., & Manitta, P. (1992). Mobility aids for children
with high-level myelomeningocele: Parapodium versus wheelchair. Developmental Medicine and Child
Neurology, 34, 787796.
Lollar, D. (Ed.). (2010). Launching into adulthoodAn
integrated response to support transition of youth with
chronic health conditions and disabilities. Baltimore:
Brookes Publishing.
Majnemer, A., Shevell, M., Rosenbaum, P., Law, M., &
Poulin, M. (2007). Determinants of life quality in
school age children with cerebral palsy. Journal of
Manuel, J. C., Balkrishnan, R., Camacho, F., Paterson
Smith, B., & Koman, L. A. (2003). Factors associated
with self-esteem in pre-adolescents and adolescents
with cerebral palsy. Journal of Adolescent Health, 32,
456458.
Mazur, J. M., Shurtleff, D., Menelaus, M., & Colliver, J.
(1989). Orthopedic management of high-level spina
bifida. Early walking compared with early use of a
wheelchair. Journal of Bone and Joint Surgery, 71,
5661.
McDermott, J. F., & Akina, G. (1972). Understanding
and improving the personality development of children with physical handicaps. Clinical Pediatrics, 11,
130134.
Msall, M. E., Avery, R. C., Tremont, M. R., Lima, J. C.,
Rogers, M. L., & Hogan, D. P. (2003). Functional disability and school activity limitation in 41 300 schoolage children: Relationship to medical impairments.
National Center for Health Statistics. (2009). Summary
health statistic for the U.S. population: National health
interview survey, 2008 (DHHS Publication No. (PHS)
20101571). Washington, DC: U.S. Government
Printing Office.
Neufeld, J. A., Klingbeil, F., Nelson Bryen, D., Silverman,
B., & Thomas, A. (2002). Adolescent Sex and Disability. Physical Medicine and Rehabilitation Clinics of
North America, 13, 857873.
Okamoto, G. A., Lamers, J. V., & Shurtleff, D. B. (1983).
Skin breakdown in patients with myelomenigocele.
Archives of Physical Medicine and Rehabilitation, 64,
2023.
Office of the United Nations High Commissioner for
Human Rights. (1990). Convention on the rights of
104
the child. Retrieved July 16, 2010, from http://www2.
ohchr.org/english/law/crc.htm#art23.
Oliver, M. (1996). A sociology of disability or a disablist sociology? In L. Barton (Ed.) Disability Society
(pp.1842). London: Longman.
Perrin, E. C., Newacheck, P. W., Pless, B. I., Drotar, D.,
Gortmaker, S. L., Leventhal, J., et al. (1993). Issues
involved in the definition and classification of chronic
health conditions. Pediatrics, 91, 787793.
Pirpiris, M., Gates, P. E., McCarthy, J. J., DAstous, J.
D., Tylkowski, C., Sanders, J. O. etal. (2006). Function and well-being in ambulatory children with cerebral palsy. Journal of Pediatrics Orthopaedics, 26,
119124.
Pless, I. B., & Pinkerton, P. (1975). Chronic childhood
disorders: Promoting patterns of adjustment. Chicago:
Year-Book Medical Publisher.
Poulin, C., Hand, D., Boudreau, B., & Santor, D. (2005).
Gender differences in the association between substance use and elevated depressive symptoms in a general adolescent population. Addiction, 100, 525535.
Prellwitz, M., & Skr, L. (2006). How children with
restricted mobility perceive the accessibility and
usability of their home environment. Occupational
Therapy International, 13, 193206.
Quan, A., Adams, R., Ekmark, E., & Baum, M. (1998).
Bone mineral density in children with myelomeningocele. Pediatrics, 102, e34.
Roberts, D., Shepherd, R. W., & Shepherd, K. (1991).
Anthropometry and obesity in myelomeningocele.
Journal of Pediatrics and Child Health, 27, 8390.
Rodgers, M. M., Keyser, R. E., Rasch, E. K., Gorman,
P. H., & Russell, P. J. (2001). Influence of training
on biomechanics of wheelchair propulsion. Journal
of Rehabilitation Research and Development, 38,
505511.
Roscigno, C. I. (2002). Addressing spasticity-related pain
in children with spastic cerebral palsy. Journal of Neuroscience Nursing, 34, 123133.
Russo, R. N., Miller, M. D., Haan, E., Cameron, I. D., &
Crotty, M. (2008). Pain characteristics and their association with quality of life and self-concept in children
with hemiplegic cerebral palsy identified in a population register. Clinical Journal of Pain, 24, 335342.
Sawin, K. J., Bellin, M. H., Roux, G., Buran, C., Brei, T.
J., & Fastenau, P. S. (2003). The experience of parenting an adolescent with spina bifida. Rehabilitation
Nursing, 6, 173185.
Shaw, N. J. (2008). Management of osteoporosis in
children. European Journal of Endocrinology, 159,
S33S39.
Shields, N., Loy, Y., Murdoch, A., Taylor, M. F., & Dodd,
K. J. (2007). Self-concept of children with cerebral
palsy compared with that of children without impairment. Developmental Medicine and Child Neurology,
49, 350354.
Shurtleff, D. B. (1980). Myelodysplasia: Management and
treatment. Current Problems in Pediatrics, 10, 198.
Shurtleff, D. (1986). Mobility. In D. Shurtleff (Ed.),
Myelodysplasias and exstrophies: Significance, pre-

vention, and treatment (pp.313356). Orlando: Grune
& Stratton Inc.
Simeonsson, R. J., McMillen, J. S., Huntington, G. S.
(2002). Secondary conditions in children with disabilities: Spina bifida as a case example. Mental
Retardation and Developmental Disabilities Research
Reviews, 8, 198205.
Stein, R. E. K. (1996). To be or not to benoncategorical.
Developmental and Behavioral Pediatrics, 17, 3637.
Stevens, S. L., Caputo, J. L., Fuller, D. K., & Morgan,
D. W. (2008). Physical activity and quality of life in
adults with spinal cord injury. Journal of Spinal Cord
Injury, 31, 373378.
Stevens, S. E., Steele, C. A., Jutai, J. W., Kalnins, I. V.,
Bortolussi, J. A., Biggar, W. D. (1996). Adolescents
with physical disabilities: Some psychosocial aspects
of health. Journal of Adolescent Health, 19, 157164.
Szalay, E. A. (1987). Orthopedic management of the
lower extremities in spina bifida. Instructional Course
Lectures, 36, 275284.
The International Society for Clinical Densitometry.
(2007). Skeletal health assessment in children and
adolescents (males and females ages 519). http://
www.iscd.org/Visitors/positions/OfficialPositionsText.cfm#PEDIATRIC. Accessed 3 June 2010.
Thibadeau, J. K., Alriksson-Schmidt, A. I., Zabel, A. T.
(2010). The National Spina Bifida Program transition
initiative: The people, the plan, and the process. Pediatric Clinics of North America.
United Nations Enable. (2006). UN convention on the
rights of persons with disabilities, Article 30. http://
www.un.org/disabilities/convention/conventionfull.
shtml. Accessed 16 July 2010.
U.S. Census Bureau. (2008). (Table of United States
disability characteristics based on the 2008 American community survey 1-year estimates). http://
factfinder.census.gov/servlet/STTable?_bm=y&qr_name=ACS_2008_1YR_G00_S1810&-ds_
name=ACS_2008_1YR_G00_&-CONTEXT=st&redoLog=false&-_caller=geoselect&-geo_
id=01000US&-format=&-_lang=en.
Resources and Services Administration, Maternal
and Child Health Bureau. (2004). The national survey of children with special health care needs chartbook 2001. Rockville: U.S. Department of Health and
Human Services.
Van Campen, C., & Iedema, J. (2007). Are persons
with physical disabilities who participate in society
healthier and happier? Structural equation modeling
of objective participation and subjective well-being.
Quality of Life Research, 16, 635645.
Vermaes, I. P. R., Janssens, J. M. A. M., Mullaart, R. A.,
Vincks, A., & Gerris, J. R. M. (2008). Parents personality and parenting stress in families of children with
spina bifida. Child: Care Health and Development,
34, 665674.
Waldrop, J., & Stern, S. M. (2003). Disability status 2000.
Washington: U.S. Census Bureau.
105
Wallander, J. L., & Varni, J. W. (1998). Effects of pediatric

chronic physical disorders on child and family adjustment. Journal of Child Psychology and Psychiatry, 39,
2946.
Wallander, J. L., Thompson, R. J., & Alriksson-Schmidt,
A. I. (2003). Psychosocial adjustment of children with
chronic physical conditions. In M. C. Roberts (Ed.),
Handbook of pediatric psychology (3rd ed., pp.141
158). New York: Guilford Publication.
Waters, E., Davis, E., Ronen, G. M., Rosenbaum, P.,
Livingston, M., & Saigal, S. (2009). Quality of life
instruments for children and adolescents with neurodisabilities: How to choose the appropriate instrument. Developmental Medicine and Child Neurology,
51, 660669.
WHOQoL Group. (1993). Study protocol for the World
Health Organization project to develop a quality of life
assessment instrument (the WHOQoL). Quality of Life
Research, 2, 153159.
Wilmshurst, S., Ward, K., Adams, J. E., Langton, C. M., &

Mughal, M. Z. (1996). Mobility status and bone density in cerebral palsy. Archives of Disease in Childhood, 75, 164165.
World Health Organization. (1980). International classification of impairments, disabilities, and handicaps: A
manual of classification relating to the consequences
of a disease. Geneva: World Health Organization.
World Health Organization. (1994). Assessment of fracture risk and its application to screening for postmenopausal osteoporosis. Geneva: World Health
Organization.
World Health Organization. (2007). International classification of functioning, disability and health children and youth version. Geneva: World Health
Organization.
Rethinking Deaf Learners

Education: A Human Rights Issue
Irma M. Munoz-Baell, Carlos Alvarez-Dardet, M. Teresa
Ruiz-Cantero, and Emilio Ferreiro-Lago
Abstract
How can deaf childrens health be promoted through education in schools?

To what extent does deaf childrens education benefit their state of health?
Why is a broad-based approach bringing together Health for All, Education
for All and Millennium Development Goals preferable to a single intervention strategy? Health and basic education are fundamental human rights.
Though they are essential in sustainable human and social development,
a majorityperhaps as many as 90%of the 70million deaf people in
the world have never attended school and are therefore functionally illiterate. Only a few countries provide bilingual education in sign language(s)
and oral language(s) for deaf children, and only in some schools. Why is
this so? These excluded persons can only be reached through innovative
approaches in which society as a whole and deaf community members in
particular can fully and effectively participate and a wide range of different sectors can work together. Unless there is a radical change of perspective, the health and education will not be available to ALL, and therefore
social inequalities will increase rather than decrease. This chapter is concerned with this and other topics related to health, education, bilingualism,
sign languages, and the cultural identity of deaf communities.
I. M. Munoz-Baell () C. Alvarez-Dardet
M. T. Ruiz-Cantero
University of Alicante, Carretera San Vicente del Raspeig
s/n, San Vicente del Raspeig, Alicante 03690, Spain
e-mail: irmamu@ua.es
E. Ferreiro-Lago
CNSE Foundation for the Suppression of Communication
Barriers, Calle Islas Aleutianas 28, Madrid 28035, Spain
e-mail: fundacion.cnse@fundacioncnse.org
C. Alvarez-Dardet
e-mail: carlos.alvarez@ua.es
M. T. Ruiz-Cantero
e-mail: cantero@ua.es
107
108
Abbreviations
CRPD
onvention on the Rights of PerC

sons with Disabilities
EFA Education for All
HFA Health for All
HPS Health Promoting School
MDGs Millennium Development Goals
PAR Participatory Action Research
WFD World Federation of the Deaf
6.1Introduction
Although deafness does not necessarily imply
communicative disability, in todays societies one of the most immediate consequences
is a breakdown in communication. In addition,
the social image of deaf people is surrounded
by stigma, negative stereotypes, and prejudices
(Cumming and Rodda 1989; Hetu 1996; Van den
Brink et al. 1996; Cambra 1996), the result of
which is that deaf people are more disabled by
their transactions with the hearing world than by
the pathology of their hearing impairment; priority must therefore be given to the elimination
of the stigma attached to deafness as a pathology
(Munoz-Baell and Ruiz 2000).
Scientific works have traditionally associated
deaf people with a long list of negative attributes,
some of which are incongruent among themselves. Deaf people have been said, for instance,
to be aggressive, distrustful, obstinateand at
the same time submissive, credulous, or easy to
manipulate (Lane 1992). To make things worse,
many institutions and workers in the fields of
health and education have strongly opposed the
use of sign language (Lane 1992; Plann 1997).
Hearing professionals negative categorization
of deaf people has been given many labels, of
which the most widely used is that of audism
(Humphries 1977; Lane 1992); that is, the notion that one is superior based on ones ability to
hear or behave in the manner of one who hears
(Humphries 1977:12). The view of deafness as a
medically remediable pathology and the educational policies based on this view are now two
I. M. Munoz-Baell et al.
of the main obstacles in the world that hinder

advancement in the inclusion and health of members of deaf communities (Munoz-Baell et al.
2008a).
6.2Human Rights and Deaf People

In January 2009, the World Federation of the
Deaf (WFD) published a survey which reveals
considerable inequalities among countries and
regions with regard to deaf peoples exercise of
human rights (Hauland and Allen 2009). For example, in 31 of the 93 countries that participated
in the survey, deaf people are not allowed to
hold a drivers license, which puts severe limitations on their work opportunities and freedom of
movement. Educational systems and/or levels of
literacy among deaf children were also deficient
in all the participating countries, with a high proportion of illiteracy being observed all over the
world, while in nearly half the countries studied
the deaf people are faced with obstacles hindering their access to the university system. The
survey furthermore reveals that in 52 countries
no information is available on the subject of the
incidence of HIV/AIDS and deaf people.
It is therefore understandable that 60 years
after the proclamation of the Universal Declaration of Human Rights, the United Nations has
recognized that persons with disabilities still
form one of the most socially excluded groups in
all societies. The fact that persons with disabilities have been historically deprived of human
rights and fundamental freedoms led the United
Nations to prepare and approve a convention to
safeguard the most frequently violated rights,
known as the Convention on the Rights of Persons with Disabilities-CRPD (UN 2006). The
CRPD does not concern itself with each individual right expressed in the Universal Declaration,
but concentrates on those which have been most
frequently violated. Exclusion and discrimination have also been present in the lives of deaf
people, and the CRPD is aware of this fact.
The main question facing us is precisely the
mapping out of the path leading to advancement
for deaf people in the exercise of human rights ev-
6 Rethinking Deaf Learners Education: A Human Rights Issue
erywhere in the world: a hugely complex problem

if we consider that the WFD survey mentioned
earlier makes clear that factors other than the
condition of deafnessmainly political and economicaffect the question. Nevertheless, and in
spite of this complexity, one of the first factors
to consider should be the way in which deafness
is regarded. Two different and opposed perspectives on the conceptualization of deafness have
dominated the scene, and have been exhaustively
studied and debated in the scientific literature
(Jacobson 1995; Torres 1995; Reagan 1995;
Rose 1995; Hoffmeister 1996): on the one hand,
a pathology-orientated perspective according to
which deafness is defined as a medical condition
requiring the restoration of hearing and speaking
capacities; and on the other hand a socio-cultural perspective centering on sign language, and
which defines deafness in the cultural context
implicit in the language itself.
Bearing in mind that the CRPD defines disability in terms of the relation between society
and the individual,1 preferentially focusing on access to education and health from the pathology
perspective rather than that of the environment,
and that this direction does not lead to full participation and equality, we can only conclude that
this disabling condition is simply being perpetuated. On the other hand, deaf sign language
users consider that their language enables them
to participate in completely functional communicationjust like any other languagewith the
implication that they do not consider themselves
disabled (Kravitz and Selekman 1992), but simply members of a deaf community with cultural
and linguistic characteristics based on the visual
nature of the language, which in turn generates its
own cultural practices (Padden 1980; Lane 1984).
This perspective means that the deaf community
defines itself as a linguistic and cultural minority
which aspires to bilingual and bicultural development: The acquisition and use of sign language(s)
and oral language(s) pertaining to its social set1The drafters of this Convention were clear that disability should be seen as the result of the interaction between
a person and his/her environment, that disability is not
something that resides in the individual as the result of
some impairment (UN 2007:4).
109
ting, together with its associated cultures. This approach is also based on a considerable amount of
research work which has confirmed that each and
every sign language studied worldwide fulfils the
same functions as any oral language and shows
the same levels of linguistic structure including
complex grammatical rule systems, which are
however different from those of oral languages in
the way they are produced and perceived.
A related question is one which for centuries
has affected the image of deaf people among
members of society and institutions: The confusion between langue (the language as a linguistic
entity) and parole (the actual spoken utterances
of that language), the assumption having always
been that there can be no langue without parole. In recent decades, however, research into
sign languages has helped in the confirmation of
the fact that all human beings are born with the
same language ability, irrespective of whether it
be spoken or signed (Bauman 2004). The first
modern linguistic analysis of a sign language
was carried out in Holland by Bernard Tervoort
in 1956 (Leeson 2000), and William C. Stokoe
produced the first rigorous descriptive study of a
sign language (American Sign Language, ASL)
as the natural language of deaf people in 1960.
Other research studies immediately followed all
over the world (Friedman 1975, 1976; Klima and
Bellugi 1979; among others). It must be remembered that sign languages are different in different countries, and even within the same country
several sign languages or linguistic varieties of
the same language can coexist (Canadian sign
language and Quebec sign language in Canada,
or Spanish and Catalan sign languages in Spain,
just to mention a couple of examples). The CRPD
aims to help in the eradication of this confusion
from the outset, and therefore defines language
in Article 2 of the Convention as referring to both
spoken and signed languages.
Furthermore, the Convention expressly refers
to sign language no fewer than seven times, with
particular regard to education, participation in
cultural life, freedom of expression and opinion,
access to information, and accessibility in itself.
The CRPD, as we have pointed out earlier, proposes to reinforce these previously-recognized
110
Table 6.1 Elements extracted from WHO health-promotion conferences which are useful in health-promotion
programs among deaf communities, for application to individuals
Conference
Ottawa
Adelaide
Sundsvall
Jakarta
Bangkok
Individuals
Prerequisites for health
The fundamental conditions and resources for health are: peace, shelter, education, food,
income, a stable ecosystem, sustainable resources, social justice & equity
Equity, access, and development
Inequalities in health are rooted in inequities in society. Closing the health gap between socially
and educationally disadvantaged people and more advantaged people requires a policy that will
improve access to health-enhancing goods and services, and create supportive environments
In a health context, the term supportive environments refers to both the physical and the social
aspects of our surroundings. It encompasses where people live, their local community, their
home, where they work and play. It also embraces the framework which determines access to
resources for living, and opportunities for empowerment
Health promotion is a key investment
Health is a basic human right, essential for socioeconomic development. Increasingly, health
promotion is being recognized as an essential element of health development. It is a process of
enabling people to increase control over, and to improve their health
Progress towards a healthier world requires strong political action, broad participation and
sustained advocacy. Health promotion has an established repertoire of proven effective strategies
which need to be fully utilized
rights precisely because they have been repeatedly violated, which means that the manifest
requirement of the recognition of these rights in
education involves a greater emphasis on them in
this field. Indeed, although the Convention does
not recognize any new rights, it has developed as
an instrument capable of promoting the application of human rights as established in the Universal Declaration, and supports a change from the
medical to the social paradigm (UN 2006).
Bearing in mind that deaf sign language users
are especially vulnerable in the areas of education
and health, in subsequent sections we shall deal
with health-promoting settings as a strategy of the
World Health Organization (WHO), and in particular with schools as one of the fundamental settings
for the promotion of health in deaf girls and boys.
6.3Health Promotion in Practice.

Healthy Settings
6.3.1Health Promotion.
Empowerment and Networks
The modern idea and concept of health promotion as processes which favor control by individual and groups over the variables which affect their own health (Eriksson and Lindstrm
2008, p190) sprang from the Conference of Ot-
tawa 1986, the first worldwide health promotion

conference organized by the WHO. Following
the success of this first meeting and of its conclusions (the Ottawa Charter), other conferences
were held in Adelaide (1988), Sundsvall (1991),
Jakarta (1997), Mexico (2000), Bangkok (2005)
and most recently Nairobi in 2009 (WHO: http://
www.who.int/healthpromotion/conferences/
en/). The Jakarta conference gave the concept
of healthy settings its definitive importance, together with the idea that it is better to work with
physical and social settings than just with individuals as targets for health promoting programs.
In none of these conferences was explicit mention made of persons with disabilities or of deaf
communities; but Tables 6.16.3 indicate passages from the texts of all the health-promoting
conferences which can be used as arguments in
favor of programs among deaf communities and
their applications to individuals, environments,
and policies.
Differential elements in health promotion,
when compared with other models of intervention in public health and in the health sciences in
general can be identified as being: (1) based on a
holistic, not strictly medical, approach (i.e., biopsychosocial model); and (2) nonpaternalistic,
aimed at favoring personal and group options.
The global Health for All (HFA) strategya
proper application of sociodemocratic ideology
111
Table 6.2 Elements extracted from WHO health-promotion conferences which are useful in health-promotion programs among deaf communities, for application to environments
Conference
Ottawa
Adelaide
Sundsvall
Jakarta
Bangkok
Environments
Create supportive environments
Our societies are complex and interrelated. Health cannot be separated from other goals. The
inextricable links between people and their environment constitutes the basis for a socioecological approach to health. The overall guiding principle for the world, nations, regions and communities alike, is the need to encourage reciprocal maintenanceto take care of each other, our
communities and our natural environment. The conservation of natural resources throughout the
world should be emphasized as a global responsibility
The value of health
Health is both a fundamental human right and a sound social investment. Governments need to
invest resources in healthy public policy and health promotion in order to raise the health status
of all their citizens. A basic principle of social justice is to ensure that people have access to the
essentials for a healthy and satisfying life
The Conference highlighted four aspects of supportive environments:
1. The social dimension, which includes the ways in which norms, customs and social processes
affect health. In many societies traditional social relationships are changing in ways that threaten
health, for example, by increasing social isolation, by depriving life of a meaningful coherence
and purpose, or by challenging traditional values and cultural heritage
2. The political dimension, which requires governments to guarantee democratic participation
in decision-making and the decentralization of responsibilities and resources. It also requires a
commitment to human rights, peace, and a shifting of resources from the arms race
3. The economic dimension, which requires a re-channelling of resources for the achievement of
HFA and sustainable development, including the transfer of safe and reliable technology
4. The need to recognize and use womens skills and knowledge in all sectorsincluding
policy-making, and the economyin order to develop a more positive infrastructure for supportive environments. The burden of the workload of women should be recognized and shared
between men and women. Womens community-based organizations must have a stronger voice
in the development of health promotion policies and structures
Priorities for health promotion in the twentyfirst century
1. Promote social responsibility for health
2. Increase investments for health development
3. Consolidate and expand partnerships for health
4. Increase community capacity and empower the individual
5. Secure an infrastructure for health promotion
Advocate for health based on human rights and solidarity
Invest in sustainable policies, actions and infrastructure to address the determinants of health
Build capacity for policy development, leadership, health promotion practice, knowledge transfer and research, and health literacy
Regulate and legislate to ensure a high level of protection from harm and enable equal opportunity for health and well-being for all people
Partner and build alliances with public, private, nongovernmental and international organizations and civil society to create sustainable actions
to health policiesin political terms meant support for equity and national health systems, and
a real technical revolution in regarding medical
therapeutic approaches as being insufficient and
consequently in proposing a reform of the emphasis given to primary care in the health services, a promise to further democratization with
community participation, intersectorial action
and, above all, a health-based rather than a diseases-based approach.
6.3.2Advocacy for Health,

Enablement, and Mediation
The WHOs Ottawa Charter not only saw the birth
of Health Promotion in its widest sense, but also
the beginning of a new way of working in Public
Health, involving operational unity of information and action, the incorporation of traditional
epidemiological surveillance, and public health
surveillance as a function of advocacy for health.
112
Table 6.3 Elements extracted from WHO health-promotion conferences which are useful in health-promotion
programs among deaf communities, for application to policies
Conference
Ottawa
Adelaide
Sundsvall
Jakarta
Bangkok
Policies
Build Healthy Public Policy
Health promotion goes beyond health care. It puts health on the agenda of policy makers in all
sectors and at all levels, directing them to be aware of the health consequences of their decisions
and to accept their responsibilities for health
Equity, access, and development
Inequalities in health are rooted in inequities in society. Closing the health gap between socially
and educationally disadvantaged people and more advantaged people requires a policy that will
improve access to health-enhancing goods and services, and create supportive environments.
Such a policy would assign high priority to underprivileged and vulnerable groups
Participants in the Conference recognized, in particular, that education is a basic human right
and a key element in bringing about the political, economic and social changes needed to make
health a possibility for all. Education should be accessible throughout life and be built on the
principle of equity, particularly with respect to culture, social class and gender
The prerequisites for health are peace, shelter, education, social security, social relations, food,
income, the empowerment of women, a stable ecosystem, sustainable resource use, social justice, respect for human rights, and equity. Above all, poverty is the greatest threat to health
Four key commitments are to make the promotion of health:
1. central to the global development agenda
2. a core responsibility for all of government
3. a key focus of communities and civil society
4. a requirement for good corporate practice
In response to paternalistic excesses in health

education and their secondary effect of victims
blaming, and to reaffirm individuals and groups
right to exercise control over their health, the
notion of enablement first saw the light of day
in Ottawa. It was no longer a question of telling people what they should or should not do,
but rather to enable them to manage their own
health affairs and the loss of good health, including a more autonomous use of health services and
medical technology. The Ottawa conference also
expressed its support for self-help, self-care, social networking, and community reinforcement,
all clearly linked to the concept of empowerment.
To sum up, the objective of health promotion
is to mediate in the setting up of healthy public
policies, using tools which are democratically acceptable and appropriate to a society of information, such as the advocacy for health and work for
increased autonomy of groups and individuals.
6.3.3Disabilities and Health Services

At any meeting of a group of persons with disabilities, a frequent topic of conversation is the medical
profession and experiences within the health ser-
vice. This is because these people are concerned

about the quality and the quantity of services offered, and questions relating to the social control
of medicine, the definition of normality and of behaviors considered to be acceptable or otherwise.
In our society, we frequently find certain discriminatory attitudes and premises supporting the idea
that persons with disabilities automatically have
a poorer quality of life. We have every reason to
believe that doctors interiorize these predominant
attitudes and consequently respond accordingly to
the needs of persons with disabilities. The negative attitudes of some doctors not only affect a person with disabilities self-esteem, but are also the
cause of limitations on access to information and
health care. These persons with disabilities therefore often refute the medical professions interventionist nature. Nevertheless, persons with disabilities are clients of the health services by virtue
either of their impairment or of ordinary diseases.
The difficulties most often experienced by
persons with disabilities as regards the health
sector are problems of access to the sector itself
and difficulties related to healthcare workers
negative attitudes. The principal cause of dissatisfaction with doctors lies in their tendency to
center only on the functional impairment and to
draw conclusions about the persons capabilities

and competence without paying much attention
to environmental, economic, or attitudinal obstacles, which might be more important. They also
point out that doctors usually relate all illnesses
to the disabilityas an extension of itthat
there are difficulties in getting referred to specialists by basic healthcare services; that information
is withheld and the persons intimacy is violated when confidential information is revealed to
family members and personal caregivers.
Deaf sign language women often mention
problems relating to intimacy and access to information (National Disability Authority 2006;
Ubido etal. 2002; Thomas and Curtis 1997). It
often occurs that the lack of professional sign
language interpreters in healthcare centers leads
to greater reliance on members of the family,
friends, or offspring in communication with the
doctor. Although deaf women might find this
situation unacceptable, they often have no option
and are therefore unable to gain access to health
care and treatment without involving third parties. Worries about their intimacy and confidentiality may lead women to fail to consult their
doctor unless it is absolutely necessary; it can
easily occur, for example, that a young deaf sign
language woman who would like to obtain birthcontrol products would be unwilling to mention
this to her doctor unless it were through a professional sign language interpreter subject to a strict
deontological code of conduct.
A health promoting setting for persons with
disabilities within a healthcare system must
make them feel that interest is being taken and
that their situation is properly understood; it must
give a sense of security when they are worried,
and reinforce the effort they themselves make
so that they do not feel dependent. It should also
provide a high-quality service and comprehend
peoples needs independently of their medical
problems. It should furthermore, guarantee that
health workers will make an effort to establish
proper person-to-person relations by the use of
questions relating to the person with disabilities
opinions and feelings, and to demonstrate an attitude of personal attention and empathy, a preference for teamwork to find optimal solutions, and
the normal therapeutic process.
113
In addition, deaf people do not belong to a

homogeneous group; deaf women are those who
feel most discriminated against, and people with
preverbal (or prelinguistic) deafness generally
feel at a greater disadvantage than those with
postverbal (or postlinguistic) deafness. More information is therefore required regarding the reasons for a low level of satisfaction with the health
service in both these groups (Morris 1996).
6.3.4The Settings Approach

The settings approach has proved to be a useful
strategy in the process of clarification of objectives when planning health-promoting action
(Dooris 2006), and thus forms the nucleus of the
majority of WHO projects currently under way
all over the world, such as Healthy Cities (Duhl
1986), Healthy Schools (St. Leger 1999), Healthy
Hospitals, Healthy Prisons, Healthy Universities,
or Healthy Workplaces. In all these projects the
setting is defined not only as a physical place in
which health is to be promoted, but also as a social entity subject to change and which can be
health promoting if we consider the influence of
the relationship between the social environment
and personal factors on the setting itself and on
the creation of health problems within it. In this
sense, a setting is a social system, and therefore
the action should be directed not only at individual persons but also at the social patterns and
structures which shape the social system.
Today the settings approach can be considered to have proved that it can (1) mobilize political support and put health topics on the public
agenda; (2) create pathways for participation and
models of empowerment; (3) extend far-reaching, even worldwide, networks for collaboration,
innovation, and exchange of experiences; (4) reveal positive changes in the health of people in
the target setting, although without experimental
design phases; and (5) gather, as it has done over
the past few years with the application of multilevel analysis techniques, a wealth of empirical
evidence which in practice justifies the importance attached to the settings approach.
As members of society, the members of deaf
communities in general benefit from advances
114
made via the settings approach, but we can probably expect greater health benefits for this social
group from the healthy schools program, the conceptualization of the domestic environment as a
setting for health improvement, and the removal
of discrimination in the health services.
6.3.5The Family as a Healthy Setting

The world is suffering from high levels of violence against women and children. Gender violence has been linked to social and political determinants. Although the world has moved in the
last 50 years towards more democracy governments, it seems the process of democratization is
ocurring mainly in the public sphere and not at
the same pace in domestic environments (PalmaSolis etal. 2008). It is as if the area most in need
of democratization were not countries under dictatorships, but domestic family life, even in developed countries with a long democratic tradition in the public domain. One of our worries is
that this mixture of paternalism and authoritarianism is expressed even in associations created
for and by deaf people. In some countries, public
attitudes and objectives in associations of parents
of deaf people are different from those of associations of deaf people themselves. By limiting
the power of individuals to control the variables
affecting their own health, the democratization of
the domestic environment is not only a political
or human-rights issue, but is also a matter of public health.
6.4The School as a Setting for

Health Promotion and Equality
from an Early Age for Deaf Girls
and Boys
6.4.1Health, Education and
Sustainable Human
Development: Aspects
in Common
How can the health of deaf girls and boys be
improved in schools through their education?
To what extent is the education of deaf learners

beneficial to their health? Health and education
are fundamental rights of all human beings with
no possible distinctions whatsoever, and they
support and amplify each other, so that neither is
possible without the other (WHO 1998). Health
and education are, furthermore, prerequisites
for sustainable human and social development.
From this broad, all-encompassing perspective,
the relationships between health, education and
sustainable human development are both numerous and inseparable from each other, so that the
declared objectives in world policies for HFA,
Education for All (EFA), and Millennium Development Goals (MDGs) are intimately interrelated
and share common lines of feedback.
The HFA global strategy, set in motion by the
WHO in 1979 and based on principles of equity
and intersectorial action, was a global appeal for
the protection and health promotion of all the people of the world, with the aim of reducing serious
inequalities in the states of health among the inhabitants of different countries and even within a
single country. A twofold objective was set up: to
reinforce everyones ability to choose and maintain a healthy lifestyle and to enable people to participate in whatever community actions might be
necessary in order to achieve the goal of a healthy
life. This objective is still present in the review of
this policy carried out in the 1990s under the title
of HFA in the 21st Century.
The EFA movement, launched in Jomtien,
Thailand in 1990, was a worldwide appeal to ensure that all children should enjoy the same opportunities for access to proper education and full
participation in society. The objective of Education for all before the Year 2000, based on the principle that education is not only a right but is also
the key to all development, stated that achieving
full inclusive education meant paying attention
not only to the school and classroom structure,
but also to environmental conditions negatively
or positively affecting the learning process for all
pupils (attitudinal, physical, political, practical,
or resource barriers). The Framework for Action
adopted in Dakar in 2000 reiterated this collective aim, demanded urgent, effective action for
the achievement of six objectives, and insisted
that governments should promote greater interaction with society as a whole in order to ensure
proper basic EFA before 2015 the latest.
More recently, the MGDs, adopted in 2000
at the 55th General Assembly of the United Nations, created a framework within which the action-strategies can be articulated and developed,
and insisting on a collective commitment on the
part of the international community to take action
on matters of poverty, education, gender, child
mortality, maternal health, disease epidemics, environmental sustainability, and finance for development. The deadline for the fulfillment of this
commitment was likewise set at the year 2015.
The three goals of HFA, EFA, and MDGs face
the great challenge, which is also a great opportunity, of helping to achieve quality education, a
healthy start in life and sustainable human and
social development for all the boys and girls in
the world, and all three are interrelated in such
a way that any improvement achieved by one of
them automatically brings about significant advances in the others. Nevertheless, while considerable progress has been made in some countries
to guarantee these fundamental rights, there is
practically no evidence to show a reduction in social inequities affecting children with disabilities
as a result of these strategies.
The persons with disabilities represent 10% of
the worlds population; therefore, a considerable
proportion of the population, in which women
and children especially are subjected to numerous forms of discrimination (Quinn and Degener
2002). When faced with this situation, the
Convention on the Rights of Persons with Disabilities, with the support of other international
measures such as the Declaration on the Rights
of Disabled Persons (UN 1975) or the Standard
Rules on the Equalization of Opportunities for
Persons with Disabilities (UN 1993), has placed
even greater emphasis on the goals of HFA and
EFA and sustainable human development. The
CRPD is thus both a human rights treaty and an
instrument for human development, and as such
aims to promote, protect, and ensure the full and
equal enjoyment of all human rights and fundamental freedoms by all persons with disabilities.
It also establishes special measures in actual
115
cases of persons with disabilities. Five articles in

the CRPD make direct reference to the linguistic
and cultural rights of members of deaf communities worldwide, specifically recognizing their
right to receive an education of quality including
the acquisition and use of sign language, to have
access to information in sign language and in accessible environments, and to have professional
sign language interpreting. The states that are
signatories to the CRPD undertake a commitment
to recognize, accept, facilitate, and promote the
use of sign language and to respect the linguistic
and cultural identity of deaf communities. As we
have seen earlier, along with these linguistic and
cultural rights, the CRPD also protects other fundamental rights and freedoms of deaf communities, with special attention to attitudinal, physical,
political, practical, and resource obstacles which
hinder deaf peoples full and effective participation in society on an equal basis with other people. In spite of this and other advances, however,
there is still a gap between policy and practice as
regards the incorporation of persons with disabilities points of view in the achievement of HFA,
EFA, and MDGs goals, which cannot be fulfilled
unless their initiatives give priority to persons
with disabilities (UN 2009).
6.4.2General Overview and Present

Situation of Health and
Education in Deaf Communities
Worldwide
There are no official figures relating to the number of members of deaf communities in the
world. This is so because national surveys and
census forms do not include questions on the use
of the different sign languages. The WFD, however, estimates that there are about 70 million
deaf people, of whom 80% live in developing
countries (WFD: http://www.wfdeaf.org).
In the age of Internet and globalization, the
potential contribution of deaf communities to
social, cultural, and economic development in
the world is unlimited; but if countries fail to
satisfy their needs in the areas of health, quality
education and sustainable human and social de-
116
velopment and their hopes and expectations, the

HFA, EFA, and MDGs objectives will be devoid
of meaning, while inequalities between countries
and within countries themselves will increase
rather than decrease.
During the final decades of the twentieth century and the first decade of the twentyfirst century, considerable advances have been made in
the reduction or elimination of the obstacles that
deaf sign language users have traditionally had to
face. The greatest achievements have been in the
field of social rights, largely because of the international stimulus provided in the sixties and seventies by what has come to be known as the social model of disability or of human rights. This
movement implied a reversal of the tendency to
regard a deaf person as a problemas the dominating pathological/medical model of previous
years had doneand instead to see that person in
the context of his or her rights, and in particular
the right to equal opportunities, full participation
and access to the fundamental human rights of
health and education, among others (Oliver 1990;
Quinn and Degener 2002; Albert 2004).
The adoption of the Standard Rules on the
Equalization of Opportunities for Persons with
Disabilities (UN 1993) and the recent Convention
on the Rights of Persons with Disabilities as we
saw earlier gave rise to the publication of two reports on the progress achieved at an international
level regarding the recommendations and objectives expressed in both of the measures. Thanks
to these reports, the information we possess on
the present situation and the future of the rights
of deaf sign language users in the world is somewhat better. Both reports coincide in their conclusions when they point out that while advances
have been made in most countries, these advances
have been unbalanced and too slow. The first report, Government Action on Disability Policy. A
Global Survey (Michailakis 1997a), prompted by
the United Nations Commission for Social Development in 1994 with the aim of promoting the
putting into practice of The Standard Rules and
of measuring progress in the development of national policies and programs based on the Rules,
reveals the serious limitations still imposed on
deaf communities in matters of their right to ac-
cess information and communication, which constitutes a fundamental right for all people according to the Standard Rules. The report maintains
that deaf peoples linguistic rights include the
legal recognition of sign language as their first
language in education and as the natural language
of communication among deaf people and also
between deaf and hearing people. Unfortunately,
only 30% of the countries that participated in the
survey recognize sign language as deaf peoples
most natural language, while in 32.5% of countries sign language is not recognized at all, is
not used in education or as the main means of
communication between deaf persons and others.
The availability of interpreting services in sign
language is also a basic requisite for access to
information and communication for deaf people;
but in 59.3% of the countries surveyed these services were not available or were only available
for major events. For example, in such countries
the deaf people have no right to a proper defense
in a court of law because the judicial system does
not have a permanent sign language interpreting
facility, which is essential in such cases. The figures are even worse if we look at the replies given
to the same questions when they were addressed
to deaf persons associations which also participated in the survey (Michailakis 1997b). The second report, the Deaf People and Human Rights
Report mentioned above, published in 2009 and
based on CRPD data, clearly reveals that deaf
peoples human rights are constantly violated all
over the world. Consequently, the report stresses
that in order to limit violations of human rights
among deaf people it is clearly essential that each
country direct its policies toward the principles
of full participation and equality in all aspects of
life (Hauland and Allen 2009). We find similar
results in less far-reaching studies such as the
Sign on Europe Report (Kyle and Allsop 1998)
financed by the European Parliament and the European Commission and carried out to measure
the advances achieved by member states in 1997
following the motion passed by the European
Parliament in 1988 recognizing European sign
languages and requiring member states to adopt
appropriate measures.
The report reveals yet another depressing

picture and clearly shows how there were serious imbalances in the way advances had been
made in different countries with huge inequalities still remaining within each country, and the
same problems and challenges threatening the
existence of healthy development for the worlds
deaf children. At the same time, the literature
on opportunities for deaf communities access
to information in health and healthcare systems
once again shows that advances in this direction
have been very slow and that members of these
communities are still faced with numerous barriers. One such barrier is a lack of opportunities
for more deaf communities members to enter
the health professions, a lack of hearing health
workers trained in the use of sign language, the
continued application of the medicalpathological model of deafness, a lack of educational programs designed in the appropriate format and language to meet the needs of members of the deaf
communities, deaf peoples unawareness of their
legal rights, and the lack of qualified interpreters with experience in matters of health, among
others (Barnett 1999; Clowes 2000; Sadler etal.
2001; Ubido et al. 2002; Iezzoni et al. 2004;
Folkins etal. 2005; Jones etal. 2005; Steinberg
etal. 2006; Pollard etal. 2009).
This panorama is an affront to human dignity
and as such is unacceptable. For changes to be
possible, a radical change of attitude is required,
the adoption of a view of disability based on
human rights and therefore recognizing deaf sign
language users as a cultural minority with their
own languagesign language. For this reason,
it is essential to place deaf communities at the
center of the process of change and to ensure that
they have at their disposal the rights, resources,
and opportunities which will enable them to lead
the process and continue to contribute to it.
In spite of important, though rare, advances
made in some countries, many members of deaf
communitieslike many other vulnerable and
threatened populations in the worldare still
faced with social isolation, poverty, discrimination and exclusion, with all the concomitant consequences for their physical, mental, and social
wellbeing. This situation, as we have already
117
seen, is the result of numerous barriers hindering

access to the physical, social, economic, and cultural environment, as well as to health, education,
employment, information, and communication.
These barriers, furthermore, severely limit deaf
persons participation in social life on equal terms
with other people. Many of the barriers begin in
infancy, as when the use of sign language in deaf
learners education is forbidden or restricted,
which is in itself a clear violation of these childrens fundamental human rights (Hauland and
Allen 2009). Deaf sign language users experiences in the workforce, including barriers to employment and popular job types have also been
documented over the last few years; as well as
barriers to work as perceived by deaf and hard of
hearing young adults (Roots and Kerr 1998; Doe
2000; Mills 2002; Marsden 2003; RNID 2006;
Thabo Mbeki Development Trust for Disabled
People etal 2007). Several studies have pointed
out not only the high rate of unemployment and
underemployment of deaf sign language users as
compared to their hearing counterparts. Factors
such as communication barriers, employer attitudes and perceptions of the capabilities of deaf
people, or low levels of literacy and education
have been identified among the reasons behind
this discouraging and unequal situation. Barriers to employment, however, have not only been
identified in entering the workforce. The study
Reaching Deaf MindsIn the Workplace (Grant
2005) illustrates the many barriers and critical areas to deaf sign language users wellbeing
within the workplace; discrimination, in the form
of being ignored for promotion, offered inferior
work compared to ones hearing colleagues,
being ill-treated and treated unfavorably, lacking
visual working environments, or inaccessible office information and small talk (i.e., gossip,
unwritten rules, or even birthdays coming up),
playing an important part. The obstacles the deaf
sign language youth and adults encounter in developing the skills needed to ensure productive
employment and entering the workforce have
therefore profound effects on their overall health
and future prospects, as well as those of their
communities. Accordingly, it has been repeatedly
highlighted that the dominating pathology-orien-
118
Table 6.4 Recommended initial reading about deaf bilingual education worldwide
No.
1.
2.
3.
4.
5.
6.
7.
8.
9.
10.
Initial readings
World Federation of the Deaf (2007) Education Rights for Deaf Children. A policy statement of the World
Federation of the Deaf
Grosjean F (2001) The Right of the Deaf Child to Grow Up Bilingual. Sign Language Studies 1(2):110114
Mahshie SN (1995) Educating Deaf Children Bilingually: With Insights and Applications from Sweden and
Denmark. Gallaudet University Pre-College Programs, Washington DC
Mason DG (1994) Bilingual/Bicultural Deaf Education Is Appropriate. Occasional Monograph Series, Number 2. York Univ, Association of Canadian Educators of the Hearing Impaired, Toronto (Ontario)
Strong M (1995) A review of Bilingual/Bicultural Programs for Deaf Children in North America. American
Annals of the Deaf 140(2):8494
Skliar C, Massone MI, Veinberg S (1995) El acceso de los nios sordos al bilingismo y biculturalismo.
Infancia y Aprendizaje 69-70:85100
Adoyo PO (2002) Emergent Approaches towards Sign Bilingualism in Deaf Education in Kenya. Stichproben. Wiener Zeitschrift fr kritische Afrikastudien (3):8396
Knight P, Swanwick R (2002) Working with Deaf Pupils: Sign Bilingual Policy into Practice. David Fulton
Publishers, London
Biggs C (2004) A bilingual and bicultural approach to teaching deaf children in China. UNICEF
Zeshan U, Vasishta MM, Sethna M (2005) Implementation of Indian Sign Language in Educational Settings.
Asia Pacific Disability Rehabilitation Journal 16(1):1640
tated conceptualization of deafness mentioned

earlier lies at the heart of it: The roots of Deaf
unemployment lie in the medicalization of deafness, which has led to inappropriate educational
methodologies, the internalization of low expectations, and a social resistance to the removal of
barriers (Roots and Kerr 1998:5). The elimination of these barriers has therefore become a first
priority and the best strategy in order to lay the
foundations for equality of opportunities and the
disappearance of marginalization. Traditional education policies in many countries have centered
exclusively on the development of oral language
among deaf children, with minimal or zero attention to sign languages (Kyle and Woll 1983,
1985; Mason 1994; Power and Leigh 2004).
These policies have failed, not only in ensuring
deaf childrens fundamental human rights but
also in equipping a majority of deaf children with
the language skills required if they are to enjoy
the full exercise, with no discrimination of all
their human rights and fundamental freedoms.
This failure has had a severe impact on their cognitive, social, and academic development. As a
result, many deaf children have grown up in the
world deprived of the ability to communicate effectively with their families, friends, and teachers
and with little chance of being able to participate
in the economic and social life of their community (Van Cleve 1987; Lane 1992; Power and
Leigh 2004).
The risk factors affecting the development of
deaf children are therefore so great that unless
healthier environments and a lower level of risk
are achieved during their growth and development stage, these children will be denied many
opportunities to develop their personal capacities, live and work with dignity, participate fully
in social development and make well-founded
decisions. It has been estimated that a large
majorityperhaps as many as 90%of sign
language-using adults and children in the world
have never attended school and are therefore
functionally illiterate (Hauland and Allen 2009).
Consequently, deaf sign language users belong
to a marginalized social group, especially in developing countries. This conclusion, included in
the Deaf People and Human Rights Report, once
again reveals how necessary it is to strengthen
each countrys capacity to create healthier physical and psychosocial environments if equity and
sustainability are to be achieved. The health and
education sectors are morally obliged to work
together to meet the challenge provided by this
situation, by improving the health of the deaf
school population, reducing the school dropout
rate and ensuring that deaf learners have access

to proper education under the same conditions as
their hearing classmates. In order to make these
rights effective, it is essential to rethink deaf childrens education through the adoption of measures aimed at guaranteeing these childrens right
to learn and use sign language, develop their cultural identity, and have the opportunity to interact
with deaf teachers who, as the CRPD proposes,
can serve as role models for these children.
Several experiences in different parts of the
world have proved encouraging and have shown
how it is possible to advance in the right direction. A new model of education was initiated in
northern European countries in the early 1980s
and since then has become a widely-accepted
practical option in many countries for the education of deaf children (Tervoort 1983; Luetke-Stahlman 1983; Kyle 1987; Lucas 1987).
Table 6.4 contains some basic readings on this
model of education and the way it has been put
into practice in different parts of the world.
Bilingual education programs in sign
language(s) and oral language(s) (also known as
bilingual-bicultural, sign bilingual, intercultural,
or multilingual, among others) view the education of deaf children from a new perspective,
and although there are considerable differences
from one country to another and even within one
country, the programs can basically be defined as
follows:
They contemplate the use of one or several
sign languages and one or several oral languages as vehicular languages in schools.
They recognize the deaf community as a
minority with its own language and culture, a
direct consequence of todays social, political,
and educational recognition of the fundamental rights of deaf sign language users.
They fulfill the recommendations of the
United Nations Convention on the Rights of
Persons with Disabilities and other international agreements.
These programs benefit deaf children and society in general in many ways. Table 6.5 shows
some of these benefits.
119
6.4.3Schools as Daily Life Settings

International Initiatives to
Promote Health and Education
Through Schools
Although the promotion of health and education can occur in practically all walks of lifeat
work, in schools, at home, or even in hospitals
the school is still the most important of all social
settings for the development of the basic human
rights of education and health, and also for showing a commitment to equity and to raising the
social status of women and girls (WHO 1999).
Children spend a large proportion of their time
at school, at a stage in their lives when they are
creating their own patterns of behavior in relation to education and health. Schools are also an
ideal setting for the participation of parents and
relatives in the development of those fundamental rights and for ensuring that it is all positively
reflected in the neighborhood community surrounding the school (Grant and Monnot 1995).
The importance of schools becoming healthy,
inclusive, and child-friendly environments is becoming more and more evident. It is deemed important that they should be equipped to educate
and protect the children in conditions of equality.
The last few decades have seen many international initiatives aimed at protecting and ensuring
the enjoyment of these rights through improved
learning and health for the population in schools.
Some of the characteristics of these initiatives are
described in the following sections.
6.4.3.1Health Promoting Schools

Health Promoting Schools (HPS) are an important health-promoting strategy in school environments, involving several different sectors in a
concerted joint plan. The concept of HPS originated in Europe in the early 1980s. The concept
has grown since then to become an educational
model which is widely accepted and promoted in
many parts of the world. HPS is regarded as an
investment in education, health and democracy.
Although definitions of these schools vary
according to the specific needs of each school
in its context and of the community in which
it operates, a Health Promoting School can be
Bilingual programs in sign language(s)

and oral language(s) are in accordance
with the Convention on the Rights of
Persons with Disabilities in that:
Benefits of bilingual education

They advocate for fundamental human rightsBilingual programs in sign language(s) and oral language(s) do not concentrate on
the presumed limitations of deaf people, but on a society which is not accessible to ALL its members. These programs therefore
refute the medical/pathological model of disability, and adopt a view of disability based on human rightsin accordance with
the Convention on the Rights of Persons with Disabilitieswhich not only identifies the ways in which institutions and social
attitudes impose restrictions on their participation in the surrounding society, but also emphasizes the rights of deaf people and the
organizations that represent them to play an active role as co-participants in the process. Since disability is a construct of a social
environment and is seen today in terms of discrimination and social exclusion, bilingual programs do not accept a priori that
being deaf means also being disabled
They guarantee the right of deaf children to learn and use sign languagesBilingual education programs using both sign and oral
language(s) guarantee deaf childrens fundamental right to learn and use their natural languagessign languagestogether with
their right to develop their full potential without discrimination, to make healthier, more inclusive and more equitable decisions,
and to participate fully and on an equal basis with others both in education and as members of society
They guarantee the right of deaf children to receive a quality education in an accessible physical and psycho-social environmentThe implementation of these programs ensures that the education of these children is carried out in the most effective
language for them and in settings which facilitate their full academic and social development; in effect, these programs are based
on deaf childrens right to receive a bilingual education, a right that has been recognized time and again in international initiatives
prompted by the United Nations, UNESCO, UNICEF, and the World Federation of the Deaf, among others. Bilingual programs
also create an environment in which deaf children can develop their full physical, emotional and social potential, which in the long
term is a valuable investment
They promote deaf learners maximum potential by reflecting realityBilingual programs attempt to reflect the way in which deaf
sign language usersboth youngsters and adultslive in a broad-based society which includes a deaf community. In this way,
they favor the creation of a bilingual-bicultural environment in which deaf children can develop bilingual and bicultural skills
at an early age by learning or acquiring at least two languages (sign language as their first or natural language, and the local oral
language as a second language) as well as simultaneously acquiring two cultures (deaf and hearing) as integrated aspects of the
curriculum and the environment. The objective of all this is to maximize deaf childrens capacity to control their own lives, to
achieve complete development and to participate fully both in the deaf community and in the broader hearing society
They prepare deaf learners for adult life and for their full and effective participation in society on equal terms with others
Through bilingual programs deaf children can benefit from an education which involves acquiring knowledge as well as learning
to do, to be and to live with others. This type of education aims to exploit each childs talents and capabilities and to develop each
childs personality with a view to improving their lives, preparing them for adult life and enabling them to participate fully and
effectively in society
They improve deaf learners academic results, raise their self-esteem and widen their social relationsBilingual programs
contribute to a considerable degree to the way a school fulfills its educational and developmental objectives. Pupils learn better if
they are able to participate in the emotional and social environment of the school and to develop their action competence. Several
studies of deaf learners academic achievements (Heiling 1995; Knight and Swanwick 2002) have shown that they obtain better
grades and socialize better if they have had access to sign language before and after starting school
Table 6.5 Some ways in which bilingual education benefits deaf learners
120
Table 6.5 (continued)
They make deaf communities more visible and encourage respect for its culture and for sign languagesThe application of
bilingual education programs is a crucial element in winning the support of educators and politicians, many of whom have little
knowledge of the linguistic and cultural rights and needs of deaf sign language users. Support for these programs causes awareness of these rights among a wider spectrum of society and thereby improves the status of deaf sign language users as well as of
their culture and their language
Benefits of bilingual education

They enable members of the deaf community to work and cooperate closely and on equal terms with their hearing counterparts
Deaf children need to have the opportunity to relate to deaf adults who have been successful in life, as concrete instances on
which they can base their lives and their expectations. Deaf teachers not only provide learners with a different view of deaf culture
and its characteristics, but also function as models for these children, giving them a natural base for sign language. Bilingual
programs also help in guaranteeing that deaf peoples points of view are taken into account in the whole educational process and
in deaf teachers professional development
They encourage participation and community responsibilityThe education of deaf children does not take place in isolation, but
can only be conceived and put into practice in a community context. This includes not only teachers and the deaf childrens classmates at school, but also parents, the neighborhood in which the school is located, and attitudes of local people towards the local
school itself and the presence of deaf children in it. Bilingual sign and oral language programs encourage cooperation between the
school, the family and the community by actively advocating for the recognition of the rights and needs of the deaf and hearing
communities to which the children belong and with which they identify

121
122
described as one that constantly strengthens its

capacity as a healthy setting for living, learning
and working (WHO 1998). HPS are based on a
social model of health understood as a state of
complete physical, mental and social well-being
and not merely the absence of disease or infirmity (WHO Alma Ata Declaration 1978). This,
as we have mentioned earlier, is the way in which
health is regarded as a fundamental human right.
The basic aim of an HPS is to ensure that
health promotion is part of all aspects of life in
the school, thereby improving its overall quality.
This requires joint action on the part of many sectors of society and the health sector itself. To this
end, an HPS embraces three main elements
teaching programs, the school environment, and
the wider communityin which each school can
choose different options depending on its particular situation, previous experience, and needs.
Today, there are agencies and nongovernment organizations with decades of experience in
promoting health in schools. Here we can mention two in particular: the European Network of
Health Promoting Schools (ENHPS), set up in
1991 by the Council of Europe, the European
Commission, and the WHO Regional Office
for Europe, and now known as the Schools for
Health in Europe (SHE) network; and the Global
School Health Initiative, launched in 1995 under
the auspices of the WHO and whose guidelines
are the Ottawa Charter for Health Promotion
(1986), the Jakarta Declaration of the Fourth
International Conference on Health Promotion
(1997), and the WHOs Expert Committee Recommendation on Comprehensive School Health
Education and Promotion (1995; WHO 1998).
6.4.3.2Inclusive Schools
The idea of inclusive schools first arose in the
World Conference on Education for All: Meeting
Basic Learning Needs (Jomtien, Thailand 1990),
and was reinforced in the World Conference on
Special Needs Education: Access and Quality
(Salamanca, Spain 1994) and in the World Education Forum (Dakar, Senegal 2000). The concept
of inclusive education originates in the conviction that the right to education is a fundamental
right and as such is a cornerstone of a fair society
in which there can be no exclusion or discrimina-
tion in education. To make this right effective, all

efforts must be directed toward achieving basic
quality EFA children. It is a question of developing ways of enabling schools to satisfy the needs
of all the children in the surrounding community,
paying special attention to those who in the past
have been excluded from educational opportunities, among whom are those with disabilities. Inclusive schools therefore value individual differences, rather than seeing them as a problem. HIV/
AIDS, early childhood education, school health,
education of girls and women, adult literacy and
education in situations of crisis and emergency
were all areas of concern identified in the World
Education Forum held in Dakar in the year 2000.
Inclusive education may be viewed in many
different ways depending on the country and the
moment. The term has very often been associated
with the integration of children with disabilities
in ordinary schools, which has given rise to many
debates on whether mainstreaming is the most
suitable model for all learners with disabilities
and for deaf children in particular (UNESCO
1994; Cohen 1998; Enabling Education Network
1999; Powers 2002; Foster etal. 2003; Hyde and
Ohna 2004; World Federation of the Deaf 2007).
The concept of inclusive education has gradually evolved over the years, however, and since
the Framework for Action adopted at the World
Education Forum in Dakar 2000 is now seen as
a strategic process of identifying any barriers
within and around the school that hinder learning
and participation of ALL children, and reducing
or removing these barriers as part of the wider
strategy to promote an inclusive society (Lynch
2001; McConkey 2001; Booth and Ainscow
2002; UNESCO 2004b).
Many countries have proved that a great deal
can be done when there is a serious commitment
towards inclusive education, and today we have
at our disposal a broad theoretical and practical
bibliography on how to define, implement, and
evaluate inclusive programs for a large number of
children who have hitherto been excluded from
education. Some of the most creative proposals
in this direction have come from poor countries,
so it has often been suggested that the developed
countries should look southward to find innovative approaches on such matters, especially in re-
lation to persons with disabilities access to quality education (UNESCO 1994, 2004a, b).
6.4.3.3Other Initiatives: Rights-Based,

Child-Friendly Schools and
FRESH
The rights-based, child-friendly school project,
initiated by UNICEF, defines its schools as inclusive, healthy and protective for all children, effective with children, and involved with families
and communitiesand children (Shaeffer 1999).
Within this framework, rights-based, child-friendly schools reflect and are aware of the rights of
every child and adolescent in the community; they
comprehensively see and understand the child in
his or her context; they take into account the childrens opinions and interests in decisions which
affect them; they strengthen teachers capacities,
morale, commitment, and the conditions in which
they exercise their profession; they focus on the
family and encourage its members to participate
actively in the business of the school; and they
are based on the participation of the whole community. There are various options for implementing rights-based, child-friendly school models
depending on the specific circumstances of each
country. A Global Capacity Development Programme on Child-Friendly Schools has been recently prepared by UNICEF to support countries
in designing and implementing these models. This
program includes a manual with specific country examples of child-friendly school programs
(UNICEF 2009a). Unfortunately, child-friendly
school initiatives have produced relatively few
examples where output and outcome results have
been reported or evaluated. As a result, in 2008
UNICEF contracted a team of evaluators from the
American Institutes for Research to investigate if
child-friendly school programs have the desired
effect of improving education quality and contribute towards system strengthening at the national
level. A main challenge and barrier highlighted in
the report was a lack of fully inclusion of students
with physical and learning disabilities in childfriendly school programs (UNICEF 2009b).
In the year 2000, several international agencies (WHO, UNICEF, UNESCO, and the World
Bank) agreed to join forces in a joint proposal
called FRESH (Focusing Resources on Effective
123
School Health). A FRESH Start to Improving

the Quality and Equity of Education. The global
aim of FRESH is to make use of its collective
experience to transform schools into healthier
settings for children, to improve learning, and to
make EFA easier to achieve through participation
and intersectorial action (effective partnerships
between teachers and health workers, effective
community partnerships, and pupil awareness
and participation).
6.5An Example of Good Practice:

The Health-Promoting and
Inclusive School for Deaf Girls
and Boys Initiative
6.5.1How Did this Initiative Arise and
What are Its Aims?
The Health-promoting and Inclusive School for
Deaf Girls and Boys Initiative began in 1999 as
a research project funded mainly by the Spanish
Ministry of Health and Consumptions Health
Research Council (project no. PI021068) and
carried out within a Participatory Research Action (PAR) framework. The main objective of the
initiative is to generate and disseminate strategic information which might help in improving
our understanding of deaf childrens educational
needs, thus promoting change toward a healthier,
more inclusive, and more equitable education for
these children. This Initiative orientates this objective in three directionsethics, policies, and
systemsall within the framework of international policies such as HFA, EFA, and MDGs.
The Health-promoting and Inclusive School
for Deaf Girls and Boys Initiative is the result
of a long process of reflection and analysis of
experiences and research in this area, stressing
the fundamental role played by equity as a determining factor in the development of deaf childrens physical, emotional, and social potential.
It stems also from the results of the research on
which the Initiative is based. The Initiative provides a broad, holistic conceptual framework
which makes it possible to view the strategies of
health-promoting schools, inclusive schools,
and schools with bilingual programs in sign and
124
Fig. 6.1 The logo of the initiative, created by a deaf

Spanish sign-language using designer working in the
CNSE Foundation for the Suppression of Communication
Barriers in Spain. (original logo in Spanish)
oral language for deaf pupils as complementary

strategies at every level.
Figure 6.1 shows the logo of the Initiative,
which attempts to reflect three of its key components: (1) health, (2) deaf children, and (3) sign
language. The logo shows the Spanish sign language representation that encourages or enables
deaf children to achieve their maximum health
potential through the full development of their
physical, emotional, and social capacities.
6.5.2Why this Initiative? The Use

of the Conceptual Framework
of the Health Promoting and
Inclusive School for Deaf Girls
and Boys Initiative
The promotion of health and of inclusive education in schools pursues the fundamental objective
of enabling pupils, people who work in schools,
and the community as a whole to carry out actions aimed at making life, the school, and society healthier, more inclusive, and more equitable. In order to achieve this basic goal, it is of
vital importance that the pupils, the teachers, the
parents, and the community in which the school
operates should all participate actively in the entire process. In the case of the pupils, their active
participation in the learning process implies the
specific development of empowerment and action competencies in a healthy physical and psychosocial environment to which they have ready
access (Grant and Monnot 1995; WHO 2003;
Gray etal. 2006).
Developing their abilities (skills and attitudes
and knowledge) to take action means that the
pupils will be provided with the ability to make
a difference in real-life situations and to effect
change by making their own decisions during
their whole lives. For this to happen, pupils must
necessarily be able to express their feelings and
opinions in their natural languagetheir first
language or the one they naturally preferand
this basic human right must be put into practice
in a setting which promotes their emotional and
social wellbeing. Health promoting and inclusive education, and rights-based child-friendly
programs in schools often fail, however, to cover
the needs of many children in high-risk situations, or do so unsatisfactorily. This failure is
particularly evident in the case of deaf children
and their deaf communities. The underlying reason behind this problem is that schools are only
effective as healthy, inclusive environments for
deaf children when they are able to respond in
a satisfactory manner to these childrens specific communicative needs; which means, in
effect, when they promote the use of these childrens natural languagessign languagesin
a healthy physical and psychosocial environment to which they have ready access. This is
why the conceptual framework of the Health
Promoting and Inclusive School for Deaf Girls
and Boys Initiative proposes a combination
of the health-promoting schools initiative
and those of inclusive schools and bilingual
sign-language and oral language programs for
schools. This combination aims at integrating
the basic complementary elements of all three
initiatives in order to make more efficient use
of their collective experience in a more effective, equitable, and sustainable manner. This
conceptual framework can be used to achieve a
dual purpose: first, to identify factors contributing to health problems among deaf learners of
school age, taking the term health to mean a
state of complete physical, mental, and social
wellbeing; and secondly, to consequently design

and develop an appropriate, effective, and farreaching program.
6.5.3Identifying Factors and

Designing and Developing an
Appropriate, Effective, and
Far-Reaching Program
The enormous diversity of existing settings
means that there are differences between countries and even within the same country regarding
the bilingual programs that schools can and must
implement in order to guarantee deaf childrens
basic rights of health, education, and sustainable
human development and in order to achieve the
best possible results. However, there are some
elements which are common to all bilingual
programs. For this reason, the Initiative takes
as its starting-point the recommendation that all
schools with deaf children should take into account when designing their local programs: that
linguistic and cultural issues must not only be
explicitly acknowledged but must also play a
central role in all future initiatives for promoting
health and inclusive education for deaf children
all over the world. The Initiative therefore proposes that schools should use the following indicators as benchmarksall in accordance with the
Convention on the Rights of Persons with Disabilitieswhen evaluating or planning inclusive
and HPS initiatives for deaf children: The status
of sign language in the school, the stage of development of the bilingual experience (sign/oral
languages) in the school, and the participation of
deaf signing teachers and members of the deaf
community in the educational process (MunozBaell etal. 2008b).
In an increasingly globalized world, bilingual sign/oral language programs at local level
do not occur in isolation, but are articulated
among themselves and are related to other factors. These other factors include the observed
tendency towards sociopolitical change involving a higher level of acceptance of diversity in
general, together with deaf-related issues, with
the medical versus the social view of deaf sign
125
language users health, which together can either

promote or restrict the educational choices for
the deaf population much more than any change
that takes place within educational systems themselves. Bilingual educational programs for deaf
children are likewise very much determined by a
wide range of multiple constantly changing interdependent factors involving not only the internal
workings of each individual school, but also the
environment surrounding the school. The Initiative therefore recommends that more knowledge
and understanding should be gained of the internal and external nature of every center which
implements bilingual programs, and the need to
understand and analyzetaking into account
the composition and geographical locationthe
cross-relationships between the main influences
(or macro-tendencies) which hitherto have promoted or discouraged change toward bilingual
education for deaf children. For this, a transnational perspective is required when deciding
how best to facilitate bilingual education for deaf
pupils both at national and local levels (MunozBaell etal. 2008a, 2011).
6.5.4Disseminating the Health

Promoting and Inclusive School
for Deaf Girls and Boys Initiative
The symposium entitled Toward global inclusive education: Horizons for the deaf child and
the 3rd National Congress on Spanish Sign Language, both organized by associations of deaf
sign language users in collaboration with associations of parents of deaf children and with the
university, were held in Madrid, Spain, in 2009
and provided an initial framework within which
to disseminate the Initiative at regional and
national level. During 2010, the Initiative has
been further disseminated in the USA and in
Europe, at the National Center for Deaf Health
Research, University of Rochester, NY; the Center for Disability Research, Lancaster University,
UK; and the International Centre for Sign Languages and Deaf Studies, University of Central
Lancashire, UK. In order to make the Initiative
widely accessible and to provide assistance to
126
education and health policy makers, the organizations of deaf people, schools, NGOs, parents
and other people or groups interested in increasing the effectiveness of their efforts to achieve
equity and sustainability in initiatives aimed at
deaf children in schools, members of the University of Alicante and the CNSE Foundation for the
Suppression of Communication Barriers in Spain
produced a short dossier to help in disseminating
the Initiative. The dossier was prepared with two
objectives in mind: first, to encourage the design,
implementation, and evaluation of healthy, inclusive programs for deaf children in schools; and
secondly, to provide readers, especially teachers
and parents, with up-to-date strategic information to help achieve the best results possible. The
dossier can also be used, however, as a means of
reflection. It is printed in a summarized format
and using simple language in the form of questions and answers to make it easier to understand.
The dossier provides its readers with basic information so that they can:
make personal reflections: by exploring the
vision itself of health and the promotion of it,
education, the role of the school, communication and deaf learners access to information.
interrelate concepts: by reflecting on and
debating how the concepts of health, education, communication and sustainable human
development are interrelated and the nature of
their relationship with standard practice, cultural norms and environment of the school to
which they belong or to which they are linked.
put into practice joint actions: by involving
other members of the schoolpupils and
teachersand the educational community in
the generation of concrete proposals for the
practical application of the ideas contained in
the dossier.
advocate for an accessible environment: by
supporting and advocating for changes of
quality in the communicative and psychosocial environment of the school.
In the dossier, the reader will find answers
to questions such as: What is the relationship
between health, education, and childrens development? What is an HPS? Why can schools
be ideal settings in which to promote childrens
health and education? Why can a school that has

a bilingual sign/oral language quality program be
considered to be healthier, more inclusive, and
more child-friendly and being more equitable?
What does a bilingual sign/oral language quality program consist of? The document also gives
information on the origin of the Initiative, explains what its content includes, and summarizes
the main results and conclusions of the research
study on which it is based. Finally, in order to ensure that the dossier is capable of providing genuine assistance for those responsible for taking
public-policy decisions on matters of education
and health, for organizations of deaf people, for
schools, for NGOs, for parents, and other interested persons or groups, most of whom have little time to spare, the document ends with a basic
reading list on health, education, and sustainable
development; on bilingual sign/oral language
education in Spain; and on scientific publications
and press coverage of the preliminary results of
the research on which the Initiative is based. The
dossier can be downloaded free of charge from
the website of the CNSE Foundation for the Suppression of Communication Barriers in Spain:
www.fundacioncnse.org/materiales/Iniciativa.
htm and complementary information on the
project is available for consultation on the Public Policies and Health Observatorys website:
www.ua.es/webs/opps/webs_actividades/actividades_benchmarking_en.htm
6.6Conclusion
Health and education are fundamental human
rights, and as such are two key elements in
sustainable development, peace, and stability
in every country and among the nations of the
world. They are therefore indispensable ways of
participating in the social and economic systems
of the twentyfirst century. Although progress has
been made in the protection and effectiveness
of these rights in the case of deaf sign language
users, there is still much to be done. It is unacceptable that a large majorityperhaps as many
as 90%of deaf sign language using adults and
children in the world have never attended school.
It is also unacceptable that deaf sign language

users right to have access to information and
communication, to participate actively in decision-making processes on policies and programs
that affect them directly, and to benefit from
public health programs without discrimination
on grounds of disability are still violated. Deaf
children are still denied the right to learn and use
sign languages in their education and in accessible physical and psychosocial environments in
accordance with the Convention on the Rights of
Persons with Disabilities. They are also denied
the opportunity to relate to deaf adults who can
act as lifelong role models, and full and equitable
access to the knowledge, skills, and attitudes necessary in order to start life in good health and to
participate fully and effectively in society on an
equal basis with others.
All the countries that have so far ratified the
Convention on the Rights of Persons with Disabilities must fulfill their acquired obligation to make
the fundamental rights of members of deaf communities effective, as set out in the Convention,
and to make their first priority the recognition of
sign language(s), including the recognition of and
respect for deaf culture and identity; to guarantee
the use of bilingual sign/oral language in education; to ensure accessibility in all areas of society
and all aspects of life; and to provide adequate
sign language interpreting services. It is urgent to
meet the basic needs of deaf girls and boys in the
immediate future and to make effective their fundamental rights in order to fulfill the global commitment to achieve the objectives of HFA, EFA,
and the MDGs, and therefore reduce inequalities
between countries and within each society.
We live in a constantly changing society and
in a world that is increasingly interconnected and
interdependent, in which social inequalities must
be urgently addressed if we are to achieve our
goals of equity and sustainability. This involves
taking immediate energetic measures at international, national, regional, and local levels. These
measures, to be more efficient, must be participative in nature, involving the entire society and
in particular deaf community membersincluding deaf childrenthrough their representative
organizations. The measures must provide a
127
global solution, sharing knowledge and acting

coherently, in coordination and in accordance
with the international communitys resolutions,
recommendations, and examples of good practice. We now have at our disposal a wide range of
consolidated strategies which can and should be
used thoroughly in the formulation, implementation, and evaluation of the measures taken. These
strategies include especially health-promoting
schools, inclusive schools, and bilingual sign
and oral language education for deaf pupils.
The Health Promoting and Inclusive School for
Deaf Girls and Boys Initiative brings these three
strategies togetheras they are based on common values and principlesin order to provide a
broad, comprehensive perspective to take advantage of lessons learnt in the past while looking
toward the future. The Initiative may serve as an
example of how to accelerate the achievement of
the objectives expressed in HFA, Education for
All, and the MDGs.
Acknowledgments We would like to thank the following
individuals for their contributions in enhancing the quality
of this chapter: Vicente Clemente-Gomez for his help in
transcribing part of it and Bryn Moody for the English
translation of the original text.
References
Albert, B. (2004). Briefing note: The social model of disability, human rights, and development. London: UK
Department for International Development.
Barnett, S. (1999). Clinical and cultural issues in caring
for deaf people. Family Medicine, 31(1), 1722.
Bauman, H. D. L. (2004). Audism: Exploring the metaphysics of oppression. Journal of Deaf Studies and
Deaf Education, 9(2), 239246.
Booth, T., & Ainscow, M. (2002). Index for inclusion:
Developing learning and participation in schools.
Bristol: CSIE.
Cambra, C. (1996). A comparative study of personality
descriptors attributed to the deaf, the blind, and individuals with no sensory disability. American Annals of
the Deaf, 141, 2428.
Clowes, B. (Ed.) (2000). INCLUDE deaf Europeans. UK:
European Society for Mental Health and Deafness
Secretariat.
Cohen, O. P. (1998). Realities of inclusion for deaf students. In A. Weisel (Ed.) Proceedings of the 18th
international congress on education of the deaf (Vol.
128
I, pp.346352). Tel-Aviv: Academic Press of Tel Aviv
University School of Education.
Cumming, C. E., & Rodda, M. (1989). Advocacy, prejudice, and role modeling in the deaf community. Journal of Social Psychology, 129, 512.
Doe, T. (2000). Deaf employment paths: National deaf job
strategies project. Ottawa: Canadian Association for
the Deaf.
Dooris, M. (2006). Healthy settings: Challenges to generating evidence of effectiveness. Health Promotion
International, 21, 5565.
Duhl, L. J. (1986). The healthy city: Its function and its
future. Health Promotion International, 1, 5560.
Enabling Education Network (1999). Inclusion and deafness seminar: A Report. June 14, 1999; Manchester
(UK). (http://www.eenet.org.uk/resources/docs/repindex.php).
Eriksson, M., & Lindstrm, B. (2008). A salutogenic
interpretation of the Ottawa charter. Health Promotion
International, 23, 190199.
Folkins, A., Sadler, G. R., Ko, C., Branz, P., Marsh, S., &
Bovee, M. (2005). Improving the Deaf communitys
access to prostate and testicular cancer information: A
survey study. BMC Public Health, 5, 63.
Foster, S., Mudgett-Decaro, P., Bagga-Gupta, S., De
Leuw, L., Domfors, L. A., Emerton, G., Lampropoulou, V., Ouellette, S., Van Weert, J., & Welch, O.
(2003). Cross-cultural definitions of inclusion for deaf
students: A comparative analysis. Deafness and Educational International, 5(1), 119.
Friedman, L. A. (1975). Space, time, and person reference
in ASL. Language. Journal of the Linguistic Society of
America, 51, 940961.
Friedman, L. A. (1976). The manifestation of subject,
object, and topic in ASL. In C. N. Li (Ed.), Subject
and topic. New York: Academic Press.
Grant, S. (2005). Reaching deaf mindsin the workplace.
Beaconsfield: SIGN.
Grant, G., & Monnot, A. (Eds.) (1995). Promoting health
in second level schools in Europe: A practical guide.
International Planning Committee of the European
Network of Health Promoting Schools, Copenhagen.
(http://www.schoolsforhealth.eu/upload/pubs/PromotingHealthinSecondLevelSchoolsinEurope.pdf).
Gray, G., Young, I., & Barnekow, V. (2006). Developing a
health-promoting school. International Planning Committee of the European Network of Health Promoting
Schools, Copenhagen. (http://www.schoolsforhealth.
eu/upload/pubs/Developingahealthpromotingschool.
pdf).
Hauland, H., & Allen, C. (comp) (2009). Deaf people and
human rights. Helsinki: World Federation of the Deaf.
Heiling, K. (1995). The development of deaf children:
Academic achievement levels and social processes.
International studies on sign language and communication of the deaf. Hamburg: Signum.
Hetu, R. (1996). The stigma attached to hearing impairment. Scandinavian Audiology Supplement, 43, 1224.
Hoffmeister, R. J. (1996). Cross-cultural misinformation:
What does special education say about deaf people?
Disability and Society, 11, 171189.
Humphries, T. (1977). Communicating across cultures
(deaf-/hearing) and language learning, Doctoral dissertation. Cincinnati: Union Institute and University.
Hyde, M., & Ohna, S. E. (2004). Education of the deaf in
Australia and Norway: A comparative study of the interpretations and applications of inclusion. European Educational Research Association, Crete. (http://www98.
griffith.edu.au/dspace/bitstream/10072/12241/1/
Annals_Aus-NorwayMS0404.pdf).
Iezzoni, L. I., ODay, B. L., Killeen, M., & Harker, H.
(2004). Communicating about health care: Observations from persons who are deaf or hard of hearing.
Annals of Internal Medicine, 140(5), 356362.
Jacobson, J. T. (1995). Nosology of deafness. Journal of
the American Academy of Audiology, 6, 1527.
Jones, E. G., Renger, R., & Firestone, R. (2005). Deaf
community analysis for health education priorities.
Public Health Nursing, 22(1), 2735.
Klima, E. S., & Bellugi, U (Eds.) (1979). The signs of
language. Cambridge: Harvard University Press.
Knight, P., & Swanwick, R. (2002). Working with deaf
pupils: Sign bilingual policy into practice. London:
David Fulton Publishers.
Kravitz, L., & Selekman, J. (1992). Understanding hearing loss in children. Pediatric Nursing, 18, 591594.
Kyle, J. (Ed.) (1987). Sign and school: Using signs in
deaf childrens development. Avon: Multilingual Matters Ltd.
Kyle, J. G., & Allsop, L (Eds.) (1998). Sign on Europe:
A research project on the status of sign language,
version 2.0. December 1997. Chippenham: Anthony
Rowe Ltd.
Kyle, J. G., & Woll, B (Eds.) (1983). Language in sign.
London: Croom Helm.
Kyle, J., & Woll, B. (1985) Sign language: The study of
deaf people and their language. Cambridge: Cambridge University Press.
Lane, H. (1984). When the mind hears: A history of the
deaf. New York: Vintage.
Lane, H. (1992). The mask of benevolence: Disabling the
deaf community. New York: Alfred A. Knoff Inc.
Leeson, L. (2000). Toward an inclusive multi-linguistic
Europe for all: Making the sign languages of Europe
visible in the Council of Europes charter for regional
or minority languages. EUD Paper. Netherlands:
EUD.
Lucas, C. (1987). Bilingualism & deafness: An annotated
bibliography. Sign Language Studies, 55, 97139.
Luetke-Stahlman, B. (1983). Using bilingual instructional
models in teaching hearing-impaired students. American Annals of the Deaf, 128(7), 873877.
Lynch, J. (2001). Inclusion in education: The participation
of disabled learners; World Education Forum. Education for All 2000 Assessment; 2000 Apr 2628; Dakar
(Senegal); ED 2001/WS/24. UNESCO. (http://unesdoc.unesco.org/images/0012/001234/123486e.pdf).

Marsden, H. C. (2003). Young deaf adults: Perceptions
of career planning, goal setting, and literacy. Goal:
Ontario literacy for deaf people (G.O.L.D.). Mississauga (Ontario).
Mason, D. G. (1994). Bilingual/bicultural deaf education
is appropriate occasional monograph series, number
2. York University, Toronto: Association of Canadian
Educators of the Hearing Impaired.
McConkey, R. (2001). Understanding and responding
to childrens needs in inclusive classrooms. A Guide
for Teachers, ED-00/WS/34. UNESCO Division of
Basic Education, Paris. (http://unesdoc.unesco.org/
images/0012/001243/124394e.pdf).
Michailakis, D. (1997a). Government action on disability
policy. A global survey. Fritzes kundtjnst, Stockholm.
(http://www.independentliving.org/standardrules/
UN_Answers/UN.pdf).
Michailakis, D. (1997b). Government implementation
of the standard rules as seen by member organizations of World Federation of the DeafWFD. Fritzes
kundtjnst, Stockholm. (http://www.independentliving.org/standardrules/WFD_Answers/WFD.pdf).
Mills, K. (2002). Employment and employability needs
of the deaf community in Peel and Halton regions.
Toronto: The Canadian Hearing Society.
Morris, J. (1996). Encounters with strangers. Britain:
Womens Press.
Munoz-Baell, I., & Ruiz, M. T. (2000). Empowering the
deaf. Let the deaf be deaf. Journal of Epidemiology
and Community Health, 54(1), 4044.
Munoz-Baell, I. M., Alvarez-Dardet, C., Ruiz, M. T.,
Ortiz, R., Esteban, M. L., & Ferreiro, E. (2008a).
Preventing disability through understanding international megatrends in Deaf bilingual education. Journal of Epidemiology and Community Health, 62(2),
131137.
Munoz-Baell, I. M., Alvarez-Dardet, C., Ruiz, M. T., Ferreiro-Lago, E., & Aroca-Fernandez, E. (2008b). Setting the stage for school health-promoting programs
for Deaf children in Spain. Health Promotion International, 23(4), 311327.
Munoz-Baell, I. M., Alvarez-Dardet, C., Ruiz, M. T. etal.
(2011). Understanding deaf bilingual education from
the inside: A SWOT analysis. International Journal of
Inclusive Education, 15(9), 865889.
National Disability Authority. (2006). Exploring the
research and policy gaps: A review of literature on
women and disability. National Disability Authority,
Dublin. (http://www.nda.ie/cntmgmtnew.nsf/0/BF3A
14B644017A648025729D0051DD2B?OpenDocum
ent).
Oliver, M. (1990). The politics of disablement. London:
Macmillan.
Padden, C. (1980). The deaf community and the culture
of Deaf people. In C. Baker & R. Battison (Eds.) Sign
language and the deaf community. Silver Spring:
National Association of the Deaf.
Palma-Solis, M., Vives-Cases, C., & Alvarez-Dardet, C.
(2008). Gender progress and government expenditure
129
as determinants of femicide. Annals of Epidemiology,

18(4), 322329.
Plann, S. (1997). A silent minority. Deaf education in
Spain,15501835. Berkeley: University of California
Press.
Pollard, R. Q., Dean, R. K., OHearn, A. M., & Haynes,
S. L. (2009). Adapting health education material for
deaf audiences. Rehabilitation Psychology, 54(2),
232238.
Power, D., & Leigh, G (Eds.) (2004). Educating deaf students: Global perspectives. Washington: Gallaudet
University Press.
Powers, S. (2002). From concepts to practice in deaf education: A United Kingdom perspective on inclusion.
Journal of Deaf Studies and Deaf Education, 7(3),
230243.
Quinn, G., & Degener, T. (2002). Human rights and disability. The current use and future potential of United
Nations human rights instruments in the context of
disability, HR/PUB/02/1. United Nations New York.
(http://www.ohchr.org/Documents/Publications/
HRDisabilityen.pdf).
Reagan, T. (1995). A sociocultural understanding of deafness: American sign language and the culture of deaf
people. International Journal of Intercultural Relations, 19, 239251.
RNID (2006). Opportunity blocked. The employment
experiences of deaf and hard of hearing people. London: Royal National Institute for Deaf People.
Roots, J., & Kerr, D. (1998). The employment and employability of Deaf Canadians. Ottawa: Canadian Association for the Deaf.
Rose, H. M. (1995). Apprehending deaf culture. Journal
of Applied Communication Research, 23, 156162.
Sadler, G. R., Huang, J. T., Padden, C. A., Elion, L., Galey,
T. A., Gunsauls, D. C., & Brauer, B. (2001). Bringing
health care information to the deaf community. Journal of Cancer Education, 16(2), 105108.
Shaeffer, S. (1999). A framework for rights-based, childfriendly educational systems and schools. UNICEF.
St Leger, L. H. (1999). The opportunities and effectiveness of the health promoting primary school in
improving child healtha review of the claims and
evidence. Health Education Research, 14, 5169.
Steinberg, A. G., Barnett, S., Meador, H. E., Wiggins, E.
A., & Zazove, P. (2006). Health care system accessibility: Experiences and perceptions of deaf people.
Journal of General Internal Medicine, 21(3), 260266.
Tervoort, B. T. (1983). The status of sign language in
education in Europe and the prospects for the future.
In J.G. Kyle, B. Woll B (Eds.) Language in sign
(pp.135146). London: Croom Helm.
Thabo Mbeki Development Trust for Disabled People,
Disabled People South Africa, and Human Sciences
Research Council. (2007). Strategies for skills acquisition and work for people with disabilities: A report
submitted to the International Labor Organization,
Geneva, December 2006. Geneva: International Labor
Office.
130
Thomas, C., & Curtis, P. (1997). Having a baby: Some
disabled womens reproductive experiences. Midwifery, 13, 202209.
Torres, M. T. (1995). A postmodern perspective on the
issue of deafness as culture versus pathology. Journal
of the American Deafness and Rehabilitation Association, 29, 17.
Ubido, J., Huntington, J., & Warburton, D. (2002).
Inequalities in access to healthcare faced by women
who are deaf. Health and Social Care in the Community, 10(4), 247253.
UNESCO. (1994). World conference on special needs
education: Access and Quality; Salamanca, Spain.
ED-95/WS/2. UNESCO, Paris. (http://unesdoc.
unesco.org/images/0009/000984/098427eo.pdf).
Accessed 710 June 1994.
UNESCO. (2004a). Embracing diversity: Toolkit for
creating inclusive, learning-friendly environments.
UNESCO Asia and Pacific Regional Bureau for
Education, Bangkok. (http://unesdoc.unesco.org/
images/0013/001375/137522e.pdf).
UNESCO. (2004b). The right to education for persons
with disabilities: Towards inclusion. Conceptual
Paper, ED/BAS/EIE/2004/1 REV. UNESCO. (http://
unesdoc.unesco.org/images/0013/001378/137873e.
pdf).
UNICEF. (2009a). Child-friendly schools manual. UNICEF, New York. (http://www.unicef.org/publications/
files/Child_Friendly_Schools_Manual_EN_040809.
pdf).
UNICEF. (2009b). Child friendly schools programming:
Global evaluation report. UNICEF, New York. (http://
www.unicef.org/evaldatabase/files/Global_CFS_
Evaluation_Report_Uploaded_Version.pdf).
United Nations. (1975). Declaration on the rights of disabled persons. 1975 Dec 9. General Assembly Resolution 3447.
United Nations. (1993). Standard rules on the equalization of opportunities for persons with disabilities. Resolution 48/96. (http://www.un.org/esa/socdev/enable/
dissre00.htm). Accessed 20 Dec 1993.
United Nations. (2006). Convention on the rights of
persons with disabilities. Resolution A/RES/61/106.
(http://www.un.org/disabilities/convention/conventionfull.shtml). Accessed 13 Dec 2006.
United Nations. (2007). Disabilities: From exclusion to
equality. Geneva. (http://www.un.org/disabilities/documents/toolaction/ipuhb.pdf).
United Nations. (2009). Economic and social council.
Mainstreaming disability in the development agenda.
Report of the Secretary-General. E/CN.5/2010/6.
(http://www.un.org/disabilities/documents/reports/
csocd48.pdf). Accessed 20 Nov 2009.
Van Cleve, J. V. (Ed.) (1987). Gallaudet encyclopedia
of deaf people and deafness (2nd Vol.). Washington:
McGraw-Hill Book Company Inc.
Van den Brink, R. H., Wit, H. P., Kempen, G. I., & Van
Heuvelen, M. J. (1996). Attitude and help-seeking for
hearing impaired. British Journal of Audiology, 30(5),
313324.
WHO. (1978). Declaration of Alma-Ata. International
Conference on primary Health Care; Alma-Ata,
USSR; 1978 Sep 612. http://www.who.int/hpr/NPH/
docs/declaration_almaata.pdf.
WHO. (1998). WHOs global school health initiative:
health-promoting schools. WHO. (http://www.who.
int/school_youth_health/media/en/92.pdf).
WHO. (1999). Improving health through schools: National
and international strategies. Information Series on
School Health. WHO: Geneva (Switzerland). (http://
www.who.int/school_youth_health/media/en/94.pdf).
WHO. (2003). Creating an environment for emotional and social well-being. An important responsibility of a health-promoting and child friendly
school. Information Series on School Health Document 10. WHO, Geneva (Switzerland). (http://
www.who.int/school_youth_health/media/en/
sch_childfriendly_03_v2.pdf).
World Federation of the Deaf. (2007). Education rights
for deaf children. A policy statement of the World
Federation of the Deaf. (http://www.wfdeaf.org/pdf/
policy_child_ed.pdf).
Childhood Eye Disorders

and Visual Impairment
Jugnoo S. Rahi and A. Lola Solebo
Abstract
Children with visual and ocular disorders form a heterogeneous group

with differing ocular and systemic disorders, and visual, other sensory,
motor and global developmental impairments which impact the level and
type of support they need in order to function to their highest capabilities.
Abbreviations
AMC Anophthalmos, Microphthalmos, ocular Colobamacongential visual conditions

CSM newborn assessmentCentral Steady gaze Maintained
ERG Electroretinogram
EUS Examination Under Anaesthesia
EUS Examination Under Sedation
IAPD International Agency for the Prevention of Blindness
ICD-10 International Classification of Disease, Version 10
JIA Juvenile Idiopathic Arthritis
logMAR Logarithmic Scale of Acuity
NSC National Screening Centre of the United Kingdom Department of Health
ROP Retinopathy
RP Retinitis Pigmentosa
UK United Kingdom
VEP Visual Evoked Potentials
VI/BL Visual Impairment or Blindness
J. S. Rahi () A. L. Solebo
MRC Centre for Paediatric Epidemiology,
UCL Institute of Child Health, 30 Guilford Street,
London WC1N 1EH, UK
e-mail: j.rahi@ucl.ac.uk
A. L. Solebo
e-mail: a.solebo@ucl.ac.uk
131
132
The issue of amblyopia, or the failure to develop

normal vision during the finite window of developmental sensitivity, drives much of the diagnosis and management of vision-related disease in
young children, due to the largely irreversible
nature of the amblyopia following the age-related
closure of the window of sensitivity. The diagnosis often requires a full ophthalmic assessment in
a specialised setting, which may not be available
to many of the children at risk across the world.
A thorough ophthalmic assessment may also
form an important part of the eventual diagnosis
of a systemic disorder. Along with the ophthalmic care, a multi-disciplinary approach will afford these children the best opportunity of good
functional and overall health outcomes.
7.1Childhood Visual Development

Although newborns are visually responsive to
their external world, they see a very different
world to older children, and the first few years of
life involve a rapid and impressive development
of visual function.
7.1.1The Sensitive Period and Visual

Maturation
In Hubel and Wiesels Nobel prize-winning studies, the experimental monocular deprivation of
kittens resulted in the non-deprived eye driving
almost all the neurons in the adult cats visual
systems (Wiesel and Hubel 1963).The development of mammalian vision and other sensory
modalities involves a crucial sensitive period,
a time window during early development when
experience has a profound effect on the consequent structure and function of the brain. Within
the sensitive period is a critical period, during
which experience is absolutely necessary for the
creation of neural networks and subsequent normal function (Lewis etal. 1995).In humans, normal development of the visual pathways requires
the presentation of a focused image to the higher level systems during a sensitive period. The
critical sensitive period starts after birth and lasts
J. S. Rahi and A. L. Solebo
until the 6th to 8th postnatal week (Birch and

Stager 1996; Lambert et al. 2006; Barrett et al.
2004). The system then becomes progressively
less sensitive. The window closes at about the
age of 8 years, although some sensitivity may be
retained throughout life (Hooks and Chen 2007).
The development and maturation of the visual
system is measurable as improving visual function. Vision rapidly improves in the first year of
life with the maturation of retinal cells, retinal
cell organisation, and higher level processing
systems (Salomao and Ventura 1995; Mayer etal.
1995). As the child grows, acuity continues to increase, as do modalities such as colour vision,
with adult levels reached at around 8 years of age.
7.1.2Amblyopia
Should the image presented to the retina during
the sensitive period be defocused or blurred, the
child will fail to develop normal cerebral visual
system structure and function. This developmental abnormality is termed amblyopia. Amblyopia can arise secondary to defocus (refractive
amblyopia), a failure to maintain a straight gaze
(strabismic amblyopia) or structural disorders of
the eye which obscure incoming images (form
deprivation amblyopia).
Amblyopia can be bilateral, but is much more
commonly unilateral, with the visual cortex preferring the eye which presented the least blurred
or defocused image during the sensitive period.
Although individuals with unilateral amblyopia
have good vision with both eyes open, they have
an increased lifetime risk of bilateral visual impairment due to visual loss in their better-seeing
eye when compared to individuals with bilaterally normal vision (Rahi etal. 2002a; van Leeuwen
etal. 2007). The treatment of unilateral amblyopia requires early management of the cause of
reduced vision and visual penalization of the fellow eye. This can be achieved with an adhesive
eye patch to occlude the non-amblyopic eye, or
chemical penalization of vision in that eye (using
topical cycloplegic eyedrops which paralyse the
eyes ability to change focus or accommodate).
During the period of treatment, the child is en-
7 Childhood Eye Disorders and Visual Impairment
couraged to interact visually with her environment. This can be difficult, as young children
with severe (or dense) unilateral amblyopia are
understandably resistant to the occlusion of their
better functioning eye.
The effectiveness of visual penalization decreases as the child ages, and treatment becomes
largely ineffective outside the window of sensitivity (the first 8 or so years of life; Stewart etal.
2004). Thereafter, the visual system is mature
and therefore immalleable, although some residual plasticity has been demonstrated in older
children and adults with amblyopia (Scheiman
etal. 2005; Rahi etal. 2002b).
7.1.3Summary
Children have a finite developmental window
during which the visual system must be presented with a clear and focused image to ensure
that the active process of learning to see can be
achieved. Consequently, the management of all
young children with eye disorders requires some
consideration of amblyopia.
7.2Visual Impairment
Normal visual development and subsequent
normal function is an important aspect of child
health. Visual impairment has a significant impact on the affected childs developmental, educational and socioeconomic experiences during
childhood and beyond. Impairment of visual
function may be due to neurological and or ophthalmic disease, and may be associated with
other systemic disorders, sensory impairments or
global developmental abnormalities.
7.2.1Visual FunctionAcuity
and Beyond
7.2.1.1Visual Acuity
Although normal vision involves more than visual acuity, acuity is the primary basis for the
formal definition of visual impairment. Acuity
133
is the ability to resolve visual cuesthat is, to

discriminate the edges of objects in space. The
closer together the edges, the finer the detail, and
the better the acuity needed to discriminate them.
Acuity is measured at a near point of focus (reading acuity) or at a distance, and can be expressed
as a fraction (e.g. 20/20 or 6/6 vision), as a numerical score, or in gross terms (e.g. perception
of light/PL versus no perception of light/NPL):
LogMAR scale: The LogMAR scale uses a
logarithmic conversion of visual resolution
to create a linear scale of vision. The scale of
lines of vision lost can therefore be used in
LogMAR visual acuity. Lines progress in steps
of 0.1, with larger positive figures meaning
poorer vision, and negative numbers meaning better than average vision. Thus LogMAR
acuity of 0.0 is normal acuity, whilst 1.0
LogMAR is very poor acuity (Table7.1). As
the first few years of life are a time of significant visual functional development, a childs
best achievable visual acuity is dependent on
her age: newborns have an average acuity of
approximately 1.5 LogMAR, whilst 12 month
olds have an average acuity of 0.5 LogMAR,
and 24 month olds have an average of 0.35
LogMAR (Fig.7.1).
Snellen acuity: Previously, acuity was usually
measured using Snellen charts. Snellen charts
use lines of letters of decreasing sizes to determine acuity, which is expressed as a fraction.
For example, the children who can only see
and read the top line with the largest letter at
a distance of 6m have a vision of 6/60their
impairment is such that a normally sighted
child would have been able to see the letter
at 60m distance. The fraction used to represent Snellen acuity can also be expressed as a
decimal (i.e. 6/60 vision becomes 0.1 vision).
The limitation of the Snellen charts is that the
scale uses a geometric (non-linear) sequence
of worsening acuity, so that the severity of
visual loss associated with the loss of a line
of vision is dependent on which line has been
lost.
For children who cannot co-operate with formal acuity testing due to young age or other reasons, the acuity can be measured using preferen-
134
Table 7.1 A comparison of the different acuity scales in use: Snellen, LogMAR and grating acuity
Geometric Scales
Snellen metres
Snellen feet
Snellen decimal
Cycles per degree
6/4.8
20/16
1.25
6/6
20/20
1
6/7.5
20/25
0.8
6/9
20/30
0.67
6/12
20/40
0.5
15
6/15
20/50
0.4
13
6/18
20/60
0.33
10
6/24
20/80
0.25
8
6/30
20/100
0.2
6
6/36
20/120
0.17
5
6/48
20/160
0.13
4
6/60
20/200
0.1
3
3/60
20/400
0.05
1.5
Count fingers (CF)Able to count fingers at a given distance
Hand movements (HM)Able to perceive a hand waved near the face
Perception of light (PL)Able to perceive the presence or absence of light
No perception of light (NPL, or absolute blindness)
Linear Scale
LogMAR acuity
0.1
0.0
0.1
0.2
0.3
0.4
0.5
0.6
0.7
0.8
0.9
1.0
1.3
Worse vision 1.4

1.2
1
LogMAR
Acuity
0.8
0.6
0.4
0.2
Better vision
10
15
20
25
Age in months
30
35
40
Fig. 7.1 Modified from Salomao and Ventura (1995). Visual maturation in childhood showing rapid improvement
in the first year of life and the slower rate of improvement
as the child ages. The size of the data point reflects the
number of tested children in each age group. (Copyright
A. L. Solebo and J. Rahi)
tial looking techniques. Black and white gratings

of differing width, where width is measured in
cycles per visual degree (cpd), are presented to
the children to determine their best achievable vision (Table7.1).
The gross measurement of vision is useful
when vision is too poor for such assessment
scales. Subjects can be described as having perception up to the level of counting fingers hand
movements perception or perception of light
(Table7.1)
discerning black images on a white background

requires less contrast sensitivity than discerning grey images on a slightly lighter grey background. Visual function may be very different
in differing illumination conditions for children
with abnormal contrast sensitivity. Therefore adequate lighting is important for all children with
reduced vision.
7.2.1.3Field of Vision, Stereopsis and

Colour Vision
7.2.1.2Contrast Sensitivity
Contrast sensitivity is the ability to discriminate
between areas of different luminance, such that
Visual field The field is the total area of space

perceived when the eyes and head are stationary. The normal adult visual field extends to
135
60 degrees
60 degrees
C
BS
100 degrees
75 degrees
Fig. 7.2 The visual field for the right eye. C=central
fixation, BS=blind spot. The visual field diminishes in
sensitivity the greater the distance from central fixation.
(Copyright A. L.Solebo and J. Rahi)
60 nasally and superiorly, 100 temporally and

75 inferiorly from the central point of vision
(Fig.7.2). The area of greatest sensitivity is the
central field, and sensitivity drops off towards the
periphery. Significant field defects such as homonymous hemianopia (loss of the same half of
visual field in both eyes) can leave central visual
acuity mildly affected whilst severely impacting normal function. However, a field of vision
restricted to 10 or less is defined as severe visual
impairment, irrespective of central visual acuity
(Table7.2).
Stereopsis Stereopsis, otherwise known as depth
perception, requires correspondence between
the vision in both eyes (binocular vision) and
between the movements of both eyes. Good stereopsis requires reasonably good vision in each
eye. It is formally assessed using various testing
plates.
Colour vision The red, green and blue cones
of the retina at the back of the eye are responsible for detecting different wavelengths, with
the brain using the differences between received
wavelengths rather than absolute received wavelengths to perceive colours. Congenital defects in
colour perception are common, non-progressive
and untreatable inherited disorders which are
more common in boys (with a prevalence of 7%)

than girls (prevalence 1%) due to the normally
X-linked inheritance pattern. These defects can
restrict a childs future employment options, but
they confer no increased functional disadvantage
with regards to educational attainment (Cumberland etal. 2004).
7.2.2Definition and Classification

of Visual Impairment
Visual impairment could be considered to be any
impairment of any visual function. However, the
formal internationally agreed definition of visual
impairment uses the level of best achievable binocular (both eyes open) visual acuity (Table7.2),
and the size of the binocular visual field.
7.2.2.1The World Health Organisation

Definitions of Visual Impairment
The WHOs definitions of visual impairment,
based on the WHO ICD-10 categorisation of visual impairment, are described in Table7.2. Individuals are classified as either non-impaired,
moderately visually impaired, severely visually
impaired or blind using acuity in the better eye.
7.2.2.2Other Classification Systems
for Visual Impairment
Although the WHO/ICD taxonomy has been
widely adopted, there is some international variation in the definition of visual impairment, partly
due to the existence of national registers. For example, in the United Kingdom (UK), eligible individuals are certified using the following definitions: Severely sight impaired (previously termed
blind) is the vision worse than or equal to 6/60
Snellen with both eyes open, or severe peripheral field loss. Sight impaired (previously termed
partially sighted) is the vision worse than 6/18
but better than 6/60 with both eyes open, moderate visual field defects or hemianopia.
Within almost all classification systems, individuals with acuity worse than 6/6 or 0.0 LogMAR
but better than 6/18 or 0.5 LogMAR are considered visually non-impaired. However, many
industrialised nations set the minimum visual
136
Table 7.2 The WHO/international classification of disease categorisation of visual impairment (World Health Organization 2006). The International Classification of Disease (ICD-10) differentiates between low vision and blindness in
both eyes or in only one eye
WHO Level of Visual
Function (using vision
in better eye)
No impairment
Moderate visual
impairment
Severe visual
impairment
Blindness
Category of Visual
Impairment
ICD-10 code
1 (Low vision)
Best Achievable Acuity

Worse than:
6/18 or 0.5 LogMAR
Better or equal to:

6/18 or 0.5 LogMAR
6/60 or 1.0 LogMAR
2 (Low vision)
6/60 or 1.0 LogMAR
3/60 or 1.3 LogMAR
3 (Blindness)
3/60 or 1.3 LogMAR
1/60 or 1.8 LogMAR
4 (Blindness)
5 (Blindness)
1/60 or 1.8 LogMAR

No light perception
Light perception
Better than 10,

worse than 5
5 or less
requirement for driving at somewhere between

6/9 and 6/12 Snellen acuity. There is therefore an
increasing argument that individuals with vision
worse than or equal to 6/12 Snellen/ 0.3 LogMAR
could be considered to have economic or socially
significant visual impairment (Rahi etal. 2002a).
7.2.3Summary
Normal vision requires the integration of a number of visual functions. However acuity, arguably
the most important modality, forms the basis of
the taxonomy for the classification of individuals
as non-impaired, impaired, severely impaired or
blind.
7.3Assessment of the Eyes

and Vision in Children
The objective assessment of ocular structure and
health and visual function is necessary to diagnose and monitor visual and eye disorders. This
can be challenging in young children, and ageappropriate techniques have been developed to
address these challenges, as described below.
7.3.1The Multi-Disciplinary Paediatric

Ophthalmic Team
Within the setting of a paediatric ophthalmology
clinic, a multi-disciplinary approach is necessar-
Visual Field
(around central
fixation)
ily taken to examine the child. The assessment

of the different ocular structures and the different visual functional modalities is undertaken by
specialists with differing but overlapping fields
of expertise:
Ophthalmologists: Ophthalmologists are doctors and surgeons trained in the diagnosis and
management of eye disorders. Practice differs in different countries, but specialists who
practice as paediatric ophthalmologists have
usually undergone a suitable period of subspecialist training in the management of paediatric eye disorders.
Orthoptists: These non-medical specialists are
experts in the measurement of visual function
in children and the detection of abnormal eye
movements or strabismus (misalignment).
Optometrists: These non-medical specialists
are experts in the assessment of the refractive state of the eye and thus the prescription
of spectacles or contact lenses. They are also
specialists in the prescription of optical visual
aids, such as magnifying glasses, for children
with visual impairment.
7.3.2Measuring Vision in Children

7.3.2.1The First Month of Life
A healthy neonate will have a Central, Steady
gaze which she can Maintain for brief periods
(sometimes abbreviated to CSM fixation), but
she will have limited ability to maintain sustained fixation on objects, or to perceive fine
detail or colour. A few hours after birth, a full

term baby will be able to perceive and show attention preference for human facial features (Leo
and Simion 2009; Goren et al. 1975). She will
also display visual interest in high contrast or
black and white patterns such as checkerboards/
stripes (Ricci etal. 2008; Fulton etal. 1981), and
by 2 days after birth, some infants are also able
to horizontally track such stimuli. Faces or patterned objects can be used to determine if neonates as young as 48h old can fix on and follow
visual cues(Ricci etal. 2008). If fixation cannot
be assessed, the pupillary reflex to bright light is
a useful way to confirm whether a functional afferent sensory pathway is present and responsive.
7.3.2.2Pre-Verbal Infants
The preferential interest which infants display
in black and white patterns can be used to test
visual function in pre-verbal children (Teller
1997). Boards with a window of gratings on one
half and gray background on the other are presented to infants. If, on repeated presentation, the
infants pattern of gaze corresponds to the half of
the board containing the grating window, a level
of grating acuity has been determined. Acuity can
be tested with both eyes open (binocular acuity),
or tested individually for each eye (monocular
acuity) using adhesive eye patches to cover the
eyes in turn. By 6 months of age, children are
normally able to reach for visual stimuli. Objects
can be presented to children to assess visual responsiveness, although this test also requires a
degree of normal motor function.
Preferential looking patterns can also be of use
in non-verbal children. Young infants with unilateral or asymmetric visual impairment may preferentially fixate with one eye and object more to
occlusion of the better-seeing eye. This can provide a clue to the possible presence of reduced vision. However, as normal ocular movements are
needed to show preference, this technique may
not be of use in children with neurological disorders, in whom electrodiagnostic assessment of
vision may be of use.
The optokinetic reflex, where the perception
of moving pattern creates a responsive nystagmoid flicking eye movement (as seen in the eye
137
movements of train travellers watching the moving landscape) can be used to grossly estimate
visual function. A childs ability to discriminate
pattern moved across her visual field (by an operator using a hand-held drum or a tape) results
in optokinetic nystagmus. However, this assessment of gross visual response is limited by poor
repeatability due to loss of child interest and poor
sensitivity and specificity (Hoyt etal. 1982):
Visual field tests: Gross visual field defects
can also be determined: The infants attention is held centrally whilst a second examiner
standing behind the child approaches with a
visual stimulus. The child will then turn to the
stimulus when it is moved into her field of
view.
7.3.2.3Pre-School Children
Verbal children are able to report whether or not
they can see and recognise presented stimuli and
thus can be tested with shapes, numbers, and letters presented to them at different distances. A
matching card can be used as an adjunct for children unable to name letters or pictures.
7.3.2.4Over Five Years
Visual fields: Monocular and binocular visual
fields can be plotted formally for older children. Targets of different sizes or lights of different luminosity are presented to children in
different areas of the visual field. This allows
the examiner to determine not only if there is
vision in different areas of the field but also
the level of sensitivity.
Colour vision: Redgreen colour vision can
be assessed using Ishihara chromaticity plate
books, which detect the most common congenital inherited defects of colour perception. There are also more advanced tests of
colour vision available for the assessment of
children, which are used in specialised settings.
7.3.2.5Electrodiagnostic Assessment
of Vision
Electrophysiological tests are used to assess the
structural and functional integrity of the visual
system in preverbal or non verbal children. Elec-
138
Fig. 7.3 The ocular

structures. Diagram of
the anatomy of the eye,
showing the anterior and
posterior segments
troretinograms (ERGs) are a record of the activity within the retina and are consequently used to
diagnose retinal disorders causing visual impairment. Visual evoked potentials (VEPs) provide
a record of the activity through the visual pathways, and consequently can be used to diagnose
retinal ganglion cell, optic nerve, visual tract and/
or visual cortex disorders. The level of activity is
compared to normative data, and can provide an
indication of visual potential.
The performance of electrodiagnostic tests
and the interpretation of the findings in children are demanding and highly specialised tasks
which are undertaken by electrophysiologists
with special expertise, and thus are only available
in a relatively small number of centres.
7.3.3Ophthalmological Examination
7.3.3.1Examination of the Ocular
Structures
The eye (or globe) can be divided into two sections, the anterior and posterior segments, which
are separated by the natural intraocular lens. The
cornea, anterior part of the sclera and iris form
the anterior segment whilst the vitreous gel,
retina, choroid, optic nerve and posterior part of
the sclera form the posterior segment (Fig.7.3).

The globe can also be thought of as a tri-lamellar
sphere: the outermost layer is the tough opaque
protective sclera, the middle layer is the vascular
and pigmented uvea, forming the iris anteriorly
and the choroid posteriorly, and the innermost
layer is the retina.
Although significant ocular anomalies may
be obvious without the use of specialised equipment, abnormalities in globe structure are more
commonly diagnosed using magnifying instruments which allow visualisation of fine detail.
These examinations are usually undertaken by an
ophthalmologist:
The anterior segment: The anterior segment
is best visualised using a slit lamp, which is
a binocular microscope attached to a light
source which can be altered in size, luminosity, colour and direction to allow views
through the structures.
Slit lamps are usually large table mounted structures, although small portable versions capable
of more limited magnification and alterations in
light source are also of use. The hand-held direct
ophthalmoscope, which is small, portable and
relatively inexpensive, can also be used to examine the anterior segment by setting the dial to a
high plus power (e.g. +10). The pressure within
139

Table 7.3 The six pairs of extraocular muscles
Muscle
Superior rectus
Inferior rectus
Lateral rectus
Medial rectus
Superior oblique
Inferior oblique
Innervation
Oculomotor nerve
Oculomotor nerve
Abducens nerve
Oculomotor nerve
Trochlear nerve
Oculomotor nerve
the eye (intraocular pressure) can be measured

using a tonometer
The posterior segment: The posterior segment
can be examined using the slit lamp and lenses
held up to the childs eye, or using the indirect
ophthalmoscope, a head mounted instrument.
The handheld direct ophthalmoscope can also
be of use in visualising the optic nerve.
Microscopic examinations require a child to be
relatively still. Children who are repeatedly uncooperative with examination and who are considered to be at significant risk of an ophthalmic
disorder can be examined under sedation (EUS)
or under anaesthesia (EUA).
7.3.3.2The Eye Movements

Six pairs of extraocular muscles move the eyes
into place in order to allow visual fixation on an
object of interest (Table7.3). When the eyes are
unable to maintain a straight binocular gaze on
an object on interest, the child has a strabismus
(or squint). Misalignments can consist of exotropia, or divergent deviations, esotropia, convergent deviations, and hypotropia and hypertropia,
the vertical deviations. They can also consist of
more complex deviations or combinations of
deviations. Normal ocular alignment depends
on normal muscle function and on the muscular
feedback from ocular fixation on objects of interest, so strabismus can be due to pathology at
the level of the extraocular muscles, the nerves
supplying those muscles, or the higher level coordination of eye movement. The eyes are examined by an orthoptist or ophthalmologist to
determine whether eye movements are full, but
also whether the child is able to maintain straight
fixation.
Strabismus has a prevalence of between 2 and
5% in industrialised countries (Williams et al.
Primary Action
Elevation in abduction
Depression in abduction
Abduction
Adduction
Elevation in adduction
Depression in adduction
Secondary Action(s)
Intorsion, ADduction
Extorsion, ADduction
Intorsion, ABduction
Extorsion, ABduction
2008) and it can result in amblyopia, with the

non-aligned eye failing to develop its visual potential, or it can be caused by amblyopia, with
the weaker eye failing to maintain visual fixation, and subsequently drifting off. The child
presenting with strabismus may therefore have
another ocular disorder, and young children with
strabismus require early intervention (with either
ocular penalisation or surgery) to enable binocular vision to develop normally.
7.3.3.3The Refractive State (or the

Focusing Power of the Eye)
A childs refractive state (and consequent possible need for glasses) is determined by an optometrist or an ophthalmologist using a retinoscope
and hand-held lenses. Refraction requires a relatively still child. In young children, a cycloplegic
eye drop is instilled to paralyse accommodation
and prevent the child from compensating for any
refractive error. It may be possible to refract
older children without cycloplegic drops, if they
are able to relax their accommodation by reliably
fixing on a distant object. There are also automated instruments which can give a measurement of
a childs refractive state.
7.3.4Summary
The ophthalmic assessments necessary for the
diagnosis and treatment of childhood eye and
vision disorders are complex tasks involving a
multi-disciplinary approach within a specialised
setting. This same approach is taken in the monitoring of visual function in children with eye and
vision health care needs.
140
Sub-Saharan Africa
1.2%
North Africa
0.08%
West Pacific - Cambodia, Vietman, Myanmar
0.08%
South East Asia
0.08%
Middle East / Eastern Mediterranean
0.08%
South America / Central America
0.06%
China and Mongolia
0.05%
Australia
0.03%
Western Europe
0.03%
North America
0.03%
0
0.02
0.04
0.06
0.08
0.1
Prevalence of blindness (%)
0.12
0.14
Fig. 7.4 Estimated global prevalence of childhood blindness by region data from World Health Organization 2009.
There is also significant variation within regions. (Copyright A. L. Solebo and J. Rahi)
7.4Epidemiology of Childhood
Visual Impairment
In 2002, the global burden of blindness stood at
36 million persons, and 4% of them were children. In low or middle income countries 93.5%
of these children live, where 60% of blind children die within a year of being diagnosed (World
Health Organization & International Agency for
the Prevention of Blindness (IAPB) 2005). Visual impairment and blindness (VI/BL) impacts
the society and the individual due to the cost of
medical and social support for the child and the
adult she becomes, and the loss of potential employment-related income.
7.4.1Global Prevalence of Childhood

Blindness and Visual Impairment
Both the frequency and pattern of causes of
VI/BL vary across world regions (Fig. 7.4 and
Table 7.4). The prevalence of global childhood
blindness is between 0.3 and 1.2 per 1,000. Whilst
1.4million of the worlds children are blind, an

estimated 14million are visually impaired (World
Health Organization 2009). However, obtaining
accurate epidemiological information about VI/
BL is a methodological challenge and there are
limited available national data on the epidemiology of childhood visual impairment.
The global variations in the prevalence of
childhood blindness reflect the socio-economic
development state of the region but more closely
correlate with the childhood mortality rate within
the region (Gilbert and Foster 2001). The association between childhood mortality and blindness is complex, as both blindness itself and the
causes of blindness are linked to the increased
risk of childhood morbidity and death.
7.4.2Global Causes of Childhood

Blindness and Visual Impairment
The most significant global causes of blindness
are retinal disorders, corneal scarring, cerebral
disorders, congenital ocular structural anomalies
141
Table 7.4 Most important global preventable, treatable and unavoidable causes of blindness by region. (Gilbert and
Foster 2001; Resnikoff etal. 2004; World Health Organization etal. 2005)
Regions
Sub-Saharan Africa
North America
South America
Middle East/Eastern Mediterranean
North Africa
Western Europe
South East Asia
West Pacific region
Most Important Causes of Blindness

Preventable
Treatable
Not Currently
Preventable or Treatable
In all regions: Inherited
Corneal scarring. cataract
In all regions:
retinal disease, congenital
(congenital rubella)
Refractive error,
ocular structural
retinopathy of
Optic nerve and cerebral
prematurity, cataract, anomalies, optic nerve
disease (meningitis)
and cerebral disease
Uveitis (parasitic infections) glaucoma
Corneal scarring
Corneal scarring, optic nerve
and cerebral disease (meningitis, TB, malaria), cataract
(congenital rubella)
Table 7.5 The most common or significant ocular disorders associated with visual impairment
Refractive Disorders
Myopia
Hyperopia
Astigmatism
Anisometropia
Retinal Disorders
Congenital/genetic
Retinal dystrophies
Retinoblastoma
Acquired
Retinopathy of prematurity
Congenital/genetic
Optic nerve hypoplasia
Congenital optic neuropathy
Acquired
Optic nerve hypoplasia
Optic Nerve Disorders
Lens Related Disorder

Cataract
Corneal Disorders
Corneal scarring
Glaucoma
Primary
Globe anomaly
Anophthalmos
Coloboma
Uveal disorder
Uveitis
and cataract (Table 7.5 and Figs. 7.57.6). The

pattern of causes for VI/BL varies, reflecting the
regional balance of the determinants of specific
diseases, and the resources and capabilities of the
region to execute preventative strategies for these
diseases. Thus, whilst corneal disorders (which
Secondary
Microphthalmos
Aniridia
largely consist of scarring diseases caused by endemic infections such as measles or nutritional
defects such as vitamin A deficiency) account
for 1% of blind children in European countries,
they account for 36% of Sub-Saharan Africas
142

17%
dustrialised countries, as the findings are comparable with those from similar populations (e.g.
Scandinavia; Blohme and Tornqvist 1997a, b).
27%
16%
4%
5%
12%
7%
12%
Cornea
Whole globe
Cerebral
Glaucoma
Lens
Uvea
Optic nerve
Retina
Fig. 7.5 Global causes of childhood blindness, by anatomical site of cause, as a percentage of total blindness.
(Copyright A. L. Solebo and J. Rahi)
blind children (Resnikoff etal. 2004; Gilbert and

Muhit 2008; Gilbert and Foster 2001).
As stated earlier, there are limited data on the
prevalence and causes of childhood visual impairment (as opposed to blindness). However, the
WHO has identified uncorrected refractive error
as one of the most important preventable and
readily treatable causes. The worldwide prevalence of refractive errors is between 2 and 10%
(Resnikoff etal. 2004, 2008).
7.4.3Causes of Childhood Blindness

and Visual Impairment in
Industrialised Nations
In some industrialised higher income countries,
it is possible to estimate the prevalence of visual
impairment using live registers. However, prior
experience in UK has been that these registers
can be incomplete or biased with regards to distribution and causes as registration is not compulsory (Evans 1995).
Here we describe the epidemiology of visual
impairment in the UK as a model for other in-
7.4.4The British Childhood Visual

Impairment Study (2000)
Incidence: The annual cumulative incidence
of severe VI/BL is approximately 6 per 10,000
for children aged 16 years and the majority
of children were diagnosed in their first year
of life. The cumulative annual incidences for
children with and those without additional
non-ophthalmic disorders are 4.6 and 1.3
per 10,000 respectively. Children with a low
birth weight (<2,500g) also had an increased
risk of being severely impaired or blind when
compared to normal birth weight children,
and children from ethnic minority groups
and those from the most socio-economically
deprived families were also over-represented.
Causes: Neurological or cerebral disorder
affecting the visual system was the most significant cause of childhood SVI/BL, accounting for almost 50% of cases. Optic nerve disorder accounted for 28% of childhood SVI/
BL, and retinal disorders 29%.
7.4.5Summary
Childhood VI/BL affects over 14 million children worldwide, and most of these children live
in low or middle income countries, where both
the prevalence of blindness and the total child
population are greater. The most common causes
include acquired or inherited retinal disease, corneal scarring, cataract and refractive errors, and
disorders of the brain or higher visual structures,
which are responsible for up to half of all blind
children in higher income countries. In UK, 75%
of blind children (and possible other industrialised countries) also have a significant systemic
disease or another sensory or motor impairment.
The frequency and causes of visual impairment
vary significantly across the world, reflecting the
global patterns of the overall health and survival
143

Fig. 7.6 The different
cerebral/visual pathway
causes of childhood SVI/
blindness as a percentage of all children with
cerebral causes (UK used
as a model for developed
nations). (Copyright A. L.
Solebo and J. Rahi)
Hypoxic or ischaemic encephalopathy

25%
44%
Structural abnormalities - e.g.

leukomalacia (white matter lesions
Tumour - e.g. astrocytoma, glioma
15%
4%
6%
6%
Infection - e.g. viral

Neurodegenerative disorders
Unknown disorder
of children and the socio-economic developmental status of the region.
7.5Prevention of Childhood Visual

Impairment
Many of the causes of childhood visual impairment (especially in the developing world) are
avoidable or potentially preventable. We discuss
some of the most important preventative strategies below.
7.5.1Primary Prevention
Programmes aimed at preventing the development of blinding disorders focus on the prenatal
causes of disease and on the childhood causes.
7.5.1.1Immunisation and Control

of Infectious Disease
Many blinding ocular disorders have an infectious aetiology. Measles is a leading cause of
mortality amongst young children, and also
causes morbidity such as blinding corneal scarring. The Measles Initiative, an international collaboration including partners such as the WHO
and the United Nations, has been successful in
reducing the number of measles deaths globally
through education, vaccination and treatment
programmes (Wolfson etal. 2007).
Measles, diarrheal illness and malnutrition
can all result in severely dry eyes (xerophthal-
mia) and resultant corneal scarring (Maida etal.

2008). Therefore the control of parasitic and other
infections should also play a part in the strategy
to reduce global childhood visual impairment.
Intrauterine rubella can lead to structural
anomalies, retinal disorders and cataract, whereas
intrauterine infection can result in congenital corneal scarring. Thus immunisation programmes
to prevent this disease have a role to play in the
prevention of childhood blindness: Whilst rubella cataract is rare in UK, which has a national
scheme for the immunisation of pre-school children, it causes almost a fifth of all cataract in a
country such as South Africa which lacks a national programme (OSullivan etal. 1996).
7.5.1.2Vitamin A Supplementation
Vitamin A deficiency is the most important factor in the development of xerophthalmia (severe
dry eye) and corneal scarring in children with
infectious diseases or malnutrition (Barclay
etal. 1987). Over 3million children worldwide
are affected by xerophthalmia, and vitamin A
supplementation has been shown to reduce the
incidence of corneal disorders in countries such
as Mali, Bangladesh and Indonesia (Schemann
etal. 2007; Ahmed 2007; Barclay etal. 1987).
7.5.1.3Genetic Counselling
At present, many significant causes of childhood
VI/BL are inherited and therefore are currently
neither treatable nor preventable. Retinal dystrophies (largely inherited retinal disorders) are an
important example. Although research on gene
144
therapy is underway in this field, prevention of

this disorder relies on the counselling of affected
families, enabling parents to make informed decisions about future pregnancies (which are appropriate to their personal beliefs).
7.5.2Secondary Prevention
7.5.2.1Screening the General
Populations
Neonatal and infant eye checks: Congenital
ocular defects such as cataract require urgent
diagnosis and early treatment to afford the
child the best chance of developing functional vision. As the critical sensitive window
closes at approximately eight weeks of life,
the best time to examine the eye for a congenital defect is just after birth. The WHO has
identified congenital cataract as the leading
cause of avoidable childhood severe visual
impairment or blindness. However some
higher income countries, such as the Unites
States, do not have a uniform implementation of newborn ocular screening, and lower
and middle income countries do not yet have
the capacity for formal national screening
programmes. In UK, the National Screening
Committee (NSC) sets the standards for universal childhood screening and surveillance,
of which the ophthalmic component includes
an examination of the eyes of all children in
the first days following birth, and a second
safety net examination between the ages of 6
and 8 weeks (Department of Health National
Screening Committee 2005).
School entry vision checks: Children with
visual disorders often require additional support to enable them to realise their maximal
academic ability. The support can only be provided (if the countrys socio-economic status
can support it) if the disorder is diagnosed.
The UK programme, similar to that in other
countries, includes a check of vision at school
entry (at 45 years of age).
Pre-term infant screening for retinopathy of
prematurity: A significant high risk group
worldwide is children born prematurely(Maida
etal. 2008). In higher income countries, babies

born earlier than 32 weeks gestational age or
with birth weights of less than 1,500g are considered to be at risk, and should be examined
and monitored by ophthalmologists until the
child reaches their full term age. However in
low and middle income countries, the screening criteria and national programmes differ as
larger and older babies are also considered to
be at risk of developing ROP (Gilbert 2008;
Azad et al. 2009). The current international
recommendations for ROP screening are that
examinations should be carried out by a suitably trained ophthalmologist, that they should
begin between the 31st and 36th post menstrual week of age (depending on the childs
gestational age) and that they should occur
weekly to 3 weekly depending on the degree
of ROP found (American Academy of Paediatrics 2006; Azad etal. 2009).
7.5.2.2Clinical Surveillance of High

Risk Populations
It is recommended that high risk groups, such as
children with a family history of ocular disorders,
those with systemic disorders with known ophthalmic associations, or with neurological disorder and those with sensorineural hearing loss undergo targeted ophthalmic assessment for early
diagnosis and intervention.
7.5.2.3Timely Diagnosis and Treatment
of Eye Disorders
The secondary prevention of childhood VI/BL
comprises prompt specialist clinical intervention to prevent visual impairment arising from
eye disease. This requires the resource of paediatric ophthalmologists and other ophthalmic
specialists who understand the particular issues
regarding childhood vision and eye disorders.
Access to ophthalmologists is severely restricted
in most low income countries. For example, it
has been reported that there are in total five or
fewer paediatric ophthalmologists in each of the
countries of Nigeria, Ethiopia and South Africa
(Maida etal. 2008), whose combined population
less than 5 years old is over 43million children
(www.unicef.org/statistics).
145
7.5.3Tertiary Prevention
Once a child develops established visual impairment or blindness, management involves continued specialist ophthalmic input to help prevent
further visual loss and minimising the limitations
imposed on the child, for example with provision
of low vision care, special and specific educational support, and habitation and mobility training to assist activities of daily living.
7.5.3.1Low Vision Aids

Low-tech (technology) optical tools such as
hand-held and stand-supported magnifiers, and
high-tech aids such as video magnifiers and
closed-circuit television relays of printed material can be useful, enabling children with visual
impairment to perform educational tasks at home,
and eventually, at the workplace.
7.5.3.2Educational Support for Children
Children with visual impairment may simply
need to sit nearer to the teacher and teaching materials, or face a certain way to maintain a view of
the teacher, or may need more detailed support. In
UK, half of primary and secondary school aged
children with visual impairment receive their
education in mainstream schools with or without specialist visual resources such as teaching
assistants or video monitors (Keil 2003). Visual
impairment teachers or special educational needs
teachers provide either full or part time support
depending on the degree of impairment and the
resources of the local authority.As a significant
proportion of the UKs visually impaired children
have additional significant systemic disorders,
32% of children with severe visual impairment or
blindness attend schools for children with physical disabilities or learning difficulties (Keil 2003).
7.5.3.3Registration of Visual
Impairment
Several countries have live registers of children
with visual impairment which can be linked to
service provision (e.g. educational and social
support). Within a country capable of creating
and maintaining an adequate information systems infrastructure, registering a child as blind or
severely visually impaired should allow the fam-
ily easier access to financial and practical support

such as financial benefits, aids to daily living and
mobility aids. The registration process may also
trigger the need for a statutory assessment of the
childs educational needs and possible future vocational needs.
7.5.3.4Childhood Visual Development

and Quality of Life
Ideally, children with severe visual impairment
should receive support to perform educational
tasks, mobility related tasks and personal support to enable them to live their lives to the full.
Consideration should also be given to the impact
that their visual impairment has on their image of
themselves and their place in the world. Currently, there are no robust studies of the impact of visual impairment on a childs quality of life using
a child specific instrument which takes into consideration the multifaceted construct of a childs
self image, or the changes to that self image as
the child develops. However, such instruments
are presently in development (Rahi etal. 2010).
7.5.3.5Multi-Disciplinary Management
of Visual Impairment
Children with VI/BL form a heterogeneous
group, consisting of children with a range of ocular or cerebral disorders, and many children with
other sensory, motor and global developmental
impairments. For example, almost a quarter of
children born with congenital bilateral cataract
have a systemic disorder, and a fifth of children
with rod-cone type retinal dystrophy have neurosensory deafness. Thus, the input of paediatricians and paediatric neurologists, audiologists,
and speech and language specialists is of importance, allowing early diagnosis and appropriate
intervention and to reduce morbidity.
7.6Childhood Visual and Ocular

Disorders
7.6.1Neurological Disorders
In industrialised countries, the most significant
cause of childhood blindness and severe visual
impairment is cerebral and visual pathway dis-
146
Fig. 7.7 The different

refractive states. (Copyright
A. L. Solebo and J. S. Rahi)
ease, and more than 2 in 5 of these children the

aetiology of the disease is unknown (Fig. 7.6).
Table7.5 shows the most common or significant
ocular disorders found in the child with eye or vision related special health care needs, presented
in order of global burden.
7.6.2Refractive Error
The refractive or focusing state of the eye undergoes significant change in the first few years of
life. The neonatal eye is long sighted or hypermetropic. Over the first 18 months of life, globe
elongation, lens thickening, and flattening corneal curvature move the focusing system away
from hypermetropia and towards myopia, or short
sightedness (Fig.7.7). Ideally, this myopic shift
ends with the eye at emmetropia, a neutral mid
point refractive state. However, children may instead develop refractive errors. The prevalence of
refractive error in childhood varies substantially
with the population studied, ranging from 2 (in
South Africa) to 70% (in urban China, Resnikoff
etal. 2004, 2008; Negrel etal. 2000):
Hyperopia (far-sightedness): Hyperopia (or

hypermetropia) is the condition in which
images are focused somewhere behind the
focal point. Consequently, although this
hyperopia may be due to the refractive power
of the eye, it is often a reflection of the
shorter axial length of the eye (axial hyperopia). Although it is normal to grow out of
hyperopia as the eye lengthens, 5% of children remain hyperopic(Williams etal. 2008).
Hyperopic children will struggle to see clearly
objects near their faces (e.g. reading materials) but may also struggle with objects at a
distance from them, dependent on the severity
of their hyperopia.
Myopia (short-sightedness): The majority of
children with refractive error (between 70
and 90%) have myopia rather than hyperopia.
Myopia, the condition in which images are
focused somewhere anterior to the focal point
at the retina, is common in the Western world,
but it is even more common in far-eastern
countries (Saw 2009). Children with myopia
may struggle to focus clearly any object which
is not close to their face. The degree to which
147

Table 7.6 The most common childhood retinal dystrophies. (Taylor and Hoyt 2007; Rosenberg etal. 1997)
Dystrophies affecting
both central and peripheral vision
Cone photoreceptor dystrophy*
Cone-rod dystrophy*
Retinitis pigmentosa/
Rod-cone dystrophy* (the
(includes Lebers amaurosis/LCA, a stationary
most common group of
cone-rod dystrophy)
dystrophies)
X-linked retinoschisis
Stargardts disease
Best vitelliform dystrophy
Congenital stationary
night blindness
*These photoreceptor dystrophies are termed the retinal ciliopathies and can be associated with systemic disorders
involving neurosensory hearing loss, developmental delay, cardiac, limb and digit development, obesity, kidney disease,
liver disease, and respiratory disease. Examples include Usher, Bardet-Biedel, Joubert, Refsum, and Alstrom disorders
Retinal dystrophies
which are present with
visual problems in
childhood
Dystrophies primarily affecting

central vision
this occurs depends on the severity of the

myopia. Severe or high childhood myopia is
often associated with other ocular syndromes
or pathologies such as dislocation of the lens
and retinal detachment. Myopia is seen in
other ocular and systemic disorders such as
retinopathy of prematurity, congenital connective tissue diseases such as Marfans and
Trisomy 21 (Marr etal. 2001). Children with
refractive errors may be diagnosed through
surveillance of children at high risk or following the diagnosis of another ocular disorder.
If bilateral refractive error goes unnoticed, the
children may develop amblyopic visual loss.
Treatment for refractive errors involves spectacles or contact lenses and treatment of any
amblyopia (Taylor and Hoyt 2007; Rosenberg
etal. 1997).
Anisometropia is a significant difference
between the refractive status of a childs eyes,
which can lead to amblyopia in the eye with
the more severe refractive error. It is treated
by full refractive correction (and penalisation
therapy for the non-amblyopic eye). Anisometropia may also be due to significant astigmatism. Whilst most eyes are spherical with
equal surface curvatures in all directions, a
proportion of eyes have different degrees of
curvature in different directions, like a hens
egg. Astigmatism can be due to the inherent
structure of a childs eye, but can also (less
commonly) be induced by lid or orbital lesions
pressing on the eye. Management involves
optical correction or removal of the offending
lesion.
Dystrophies primarily
affecting peripheral vision
7.6.3Retinal Disorders
Retinal dystrophies: The retinal dystrophies
are a collection of uncommon, untreatable,
largely inherited disorders which are often
found in association with systemic disorders
(Rosenberg et al. 1997; Berson 1993; Maida
et al. 2008). Although individually uncommon, collectively, retinal dystrophies are the
cause of up to 10% of worldwide childhood
blindness (Berson 1993). Children with retinal
dystrophies may be diagnosed following targeted examination of children at high risk such
as those with a family history, or those with
neurosensory deafness. Hearing loss affects a
fifth of children with visual loss due to rodcone dystrophies or retinitis pigmentosa (RP).
RP is the commonest retinal disorder with a
prevalence of 1 per 4,000 (Rosenberg et al.
1997) in Europe, and RP related disorders with
associated neurosensory hearing loss (including the Usher and Bardet-Biedel sydromes)
have a combined European incidence of 5 per
100,000 (Cremers and Collin 2009). Children
with retinal disorders (Table 7.6) which primarily affect central vision will present earlier
than those with peripheral retinopathy. However, the majority of these disorders are progressive, and some of the peripheral retinopathies go on to affect central vision. Currently,
the treatment consists of low visual, educational and family support for affected children. However, there is much active research
into genetic therapies to prevent or reverse
visual loss (MacCarthy etal. 2009).
148
Retinoblastoma is a potentially fatal, often

inherited tumour which may be bilateral (in
those with hereditary disease) or unilateral.
It is the most common childhood intraocular
malignancy, but the annual incidence is low,
at less than 0.5 per 10,000 children (MacCarthy etal. 2009). Retinoblastoma tumours may
be diagnosed early through targeted retinal
examination of children with a family history.
Globally, later diagnosis is more common,
with absence of a red reflex (which is normally seen through the pupil with bright light)
due to large retinal tumours, or extra-ocular
progression of the destructive tumour, a stage
which has a very high mortality rate. Small
tumours are treated with laser or cryotherapy
ablation, whilst large tumours are treated
with removal of the globe (enucleation) and
systemic chemotherapy. Whilst the survival
rates for retinoblastoma are over 95% in the
industrialized world (Kivel 2009), in parts of
sub-Saharan Africa they are as low as 20%
due to late diagnosis and restricted access to
treatment (Marees et al. 2009). All children
require specialist oncological input and follow
up, as retinoblastoma survivors are at greater
risk of dying from other cancers in adulthood
(Resnikoff etal. 2004).
Retinopathy of prematurity: With the
increased survival of premature infants in
middle and lower income countries, retinopathy of prematurity (ROP) is becoming a significant cause of childhood blindness. Up to
50,000 of the worlds blind children are blind
due to ROP. Almost half of these children live
in Latin America (Chen and Smith 2007). The
retinal vessels begin to develop at 16 weeks
gestational age and complete their growth just
after full term birth. Preterm infants aged less
than 32 gestational weeks or weighing under
1,500 g are at especially high risk of ROP.
Excessive oxygen therapy leads to the first
phase of ROP which comprises inhibition of
the development of retinal vasculature, and
the second phase is the hypoxia-driven development of abnormal retinal neovascularisation
and inflammation, which can lead to retinal
detachment (Haines etal. 2005). Early detec-
tion of retinopathy of prematurity is essential

for successful treatment (with laser or cryotherapy). Despite well-established screening
and treatment programmes in industrialised
countries, 13% of children treated for ROP
will still be severely visually impaired by the
disorder (Tornqvist etal. 2002). Prematurity is
also associated with refractive errors and strabismus.
7.6.4Optic Nerve Disorders

The child with an optic nerve disorder has significant visual loss due to either a congenital disease
causing poor vision from birth (optic nerve hypoplasia) or poor vision in childhood (inherited/
primary congenital optic neuropathy) or an acquired disease (secondary optic nerve atrophy).
There are no known treatments for these optic
nerve disorders; management involves support to
the visually impaired child:
Optic nerve hypoplasia: Congenital hypoplasia of the optic nerve, with a reduced number of ganglion cells within both or one of
the optic nerves is the result of an intrauterine insult during cerebral development of the
visual pathways, and accounts for approximately 10% of blind children in industrialised nations. Identified risk factors for isolated optic nerve hypoplasia include maternal
smoking and maternal diabetes (Tornqvist
etal. 2002). There are often other associated
structural abnormalities, the most common
being midline cerebral and pituitary gland
defects associated with a septo-optic dysplasia (Taylor and Hoyt 2007). The child with
optic nerve hypoplasia may therefore have
significant systemic disease and learning difficulties and require formal assessment by a
paediatrician.
Optic atrophy: Acquired or secondary optic
nerve atrophy is a sequel to an ischemic, infective, inflammatory, tumour related or other
insult to the optic nerve. Secondary optic atrophy can be considered a significant worldwide
cause of childhood visual impairment due to
the multiplicity of disorders leading to atrophy.
149
7.6.5Cataract
Cataract is any visually significant opacity of the
naturally clear crystalline intraocular lens, and it
is the most significant surgically treatable cause
of childhood visual impairment in most countries. Cataract, which can be bilateral or unilateral, most commonly affects the child from birth
(congenital cataract) or in the first year of life (infantile cataract). Lens opacities in later childhood
may also be secondary to trauma, steroid exposure, or intraocular inflammation (Bhattacharjee
et al. 2008; Maida et al. 2008). The global pattern of causes of cataract varies by the population studied, reflecting differences in genetic and
environmental factors. Whilst idiopathic cataract
remains prevalent, in developing countries other
significant causes of early childhood cataract
include intrauterine infections such as rubella
(Rahi and Dezateux 2000).
Management of cataract requires early intervention in order to prevent the dense amblyopia
that would otherwise occur if left untreated. The
child with congenital or infantile cataract may
be diagnosed through newborn screening programmes using the red reflex test, affording
the chance of early intervention, or may be diagnosed later due to irreversible amblyopic visual
loss. Surgical removal of the lens is followed by
replacement of the focusing power using aphakic (literally, without-lens) spectacles, contact
lenses or intraocular lenses. In industrialised
countries, up to 1 in 4 children with bilateral cataract will have a systemic disorder and will therefore need other medical care (Maida etal. 2008).
7.6.6Corneal Disorders
Corneal scarring: Several disease pathways,
including infectious, nutritional and genetic disease lead to corneal scarring. Worldwide, the majority of these children live in lower and middle
income countries and have xerophthalmia related
corneal scarring (Hammersmith et al. 2005). In
industrialised countries, the corneal opacities in
childhood can be congenital or can be secondary
to infections (infective keratitis), trauma, elevat-
ed intraocular pressure, or significant conjunctival disease such as vernal conjunctivitis (seen in

children with a history of atopy), and blepharitis
(inflammation associated with abnormal meibomian gland production of tear film lipid; Taylor
and Hoyt 2007). Management of corneal disease
involves the identification of risk factors for scarring in order to prevent corneal opacification.
However, once the scarring has formed, surgical
options such as widening of the pupil diameter
(optical iridectomy), rotation of the cornea (rotational keratoplasty) or corneal transplantation are
needed to restore some clear vision.
7.6.7Glaucoma
Glaucoma, which is responsible for 5% of the
worlds blind children, is an optic neuropathy
associated with elevated intraocular pressures.
The elevated pressures are in turn secondary to
a failure of the aqueous fluid drainage pathways
in the iris-corneal angle (Taylor and Hoyt 2007).
Aqueous drainage requires an open angle with
adequate space between the iris and cornea, and
also that the insertion of the iris into the angle
does not cover the trabecular meshwork draining
system. Glaucoma in early childhood results in
enlargement of the eye (buphthalmos), corneal
stretch and opacity, and progressive myopia and
optic neuropathy. Childhood glaucoma is difficult to treat (Bhola etal. 2006) and the damage to
the optic nerve can result in severe VI/BL in up
to 50% of affected children (Papadopoulos etal.
2007).
The disease can be primaryor secondary to
previous cataract surgeryinflammation or trauma (Morrison etal. 2002; Shah etal. 2011). The
child with glaucoma will present with a cloudy
cornea and a large eye, and will either be diagnosed soon after birth thanks to early life ocular
screening or will be already known to ophthalmic
services at diagnosis due to treatment for another
ocular disorder. Treatment is initially medical,
but more commonly surgical procedures are
needed to create artificially widened intraocular
drainage pathways.
150
7.6.8Globe Anomaly
A failure of globe development leads to a small
eye, microphthalmos, or to total absence of the
eye, anophthalmos. Segmental failure to develop results in keyhole defects termed coloboma.
Coloboma can involve ocular isolated sites or a
combination of sites. Anophthalmos, microphthalmos and ocular coloboma (AMC) have an estimated combined annual incidence of 1/10,000
within an industrialized country (Shah et al.
2011). Over half of these children will have an associated systemic disorder (Cassidy etal. 2006).
Early diagnosis of the ocular anomalies begins
the cascade of investigations towards a timely
systemic diagnosis, ensuring that the childs carers are aware of the severe visual impairment and
the subsequent impact on general development,
and affording clinicians the opportunity of timely
interventions such as amblyopia management.
7.6.9Uveal Disorders
Uveitis: The uvea, the middle ocular lamella,
can be affected by an inflammatory disorder
termed uveitis, which is a relatively uncommon cause of childhood visual impairment.
The inflammation may be idiopathic, or associated with other systemic inflammatory disorders, or caused by infections such as onchocerciasis, which is endemic in Sub-Saharan
Africa, Central Africa and Latin America.
The uveitis seen in association with juvenile
idiopathic arthritis (JIA) affects the iris (iridocyclitis uveitis) and is often asymptomatic.
Consequently, children may not complain
of visual problems until the end stage of the
disease, with blinding complications such
as glaucoma, cataract and corneal opacity.
It has been recognised that ophthalmological surveillance is necessary to diagnose and
treat asymptomatic intraocular inflammation
in children with JIA, although there is limited evidence on the effectiveness of the suggested surveillance programmes. The children
at increased risk of developing JIA uveitis are
those with poly-articular ANA positive disease which developed in the first 6 years of
life (Jordan etal. 1992; Shah etal. 2011), and

treatment involves topical, local and systemic
steroids and steroid sparing anti-inflammatory
medications or treatment of the associated
infection in association with a medical team.
Aniridia: PAX 6 has been described as the
master gene, as its gene product helps to
regulate other genetic processes involved in
globe development. Mutations in the PAX 6
gene can result in congenital partial or total
absence of the iris and corneal disease, cataract and glaucoma. Treatment involves managing the ocular complications and the use of
tinted spectacles or contact lenses to manage
the glare from unimpeded light entry into the
eye. Although this is a rare disorder, it is of
note as sporadic cases of aniridia are associated with malignant kidney disorders (including nephroblastoma, Wilms tumour), making
a referral to paediatric and genetic services
necessary.
7.6.10Summary
Children with visual and ocular disorders form a
heterogeneous group, with differing ocular and
systemic disorders, and visual, other sensory,
motor and global developmental impairments
which impact the level and type of support they
need in order to function to their full capabilities.
Diagnosis often requires a full ophthalmic assessment in a specialised setting, which may not
be available to many of the children at risk across
the world, and a thorough ophthalmic assessment
may also form an important part of the eventual
diagnosis of a systemic disorder. The ophthalmic
care as well as a multi-disciplinary approach will
ensure that these children have the best chance at
the best functional and overall health outcome.
References
Ahmed, F. (2007). Vitamin A deficiency in Bangladesh: A
review and recommendations for improvement. Public Health Nutrition, 2, 114.
American Academy of Paediatrics. (2006). Screening
examination of premature infants for retinopathy of
prematurity. Paediatrics, 117, 572576.

Azad, R. V., Chandra, P., Patwardhan, S. D., Gupta, A.
(2009). Importance of the third criterion for retinopathy of prematurity screening in developing countries.
Journal of Paediatric Ophthalmology and Strabismus,
46(6), 332334.
Barclay, A. J., Foster, A., & Sommer, A. (1987). Vitamin
A supplements and mortality related to measles: A randomised clinical trial. British Medical Journal, 294,
294.
Barrett, B. T., Bradley, A., & McGraw, P. V. (2004).
Understanding the neural basis of amblyopia. Neuroscientist, 10, 106117.
Berson, E. L. (1993). Retinitis pigmentosa. The Friedenwald lecture. Investigate Ophthalmology and Visual
Science, 34, 1659.
Bhattacharjee, H., Das, K., Borah, R. R., Guha, K.,
Gogate, P., Purukayastha, S., etal. (2008). Causes of
childhood blindness in the northeastern states of India.
Indian Journal of Ophthalmology, 56, 495499.
Bhola, R., Keech, R. V., Olson, R. J., & Petersen, D. B.
(2006). Long-term outcome of paediatric aphakic
glaucoma. Journal of AAPOS, 10, 243248.
Birch, E. E., & Stager, D. R. (1996). The critical period
for surgical treatment of dense congenital unilateral
cataract. Investigate Ophthalmology and Visual Science, 37, 15321538.
Blohme, J., & Tornqvist, K. (1997a). Visual impairment
in Swedish children. I. Register and prevalence data.
Acta Ophthalmologica Scandinavica, 75, 194198.
Blohme, J., & Tornqvist, K. (1997b). Visual impairment
in Swedish children. III. Diagnoses. Acta Ophthalmologica Scandinavica, 75, 681687.
Cassidy, J., Kivlin, J., Lindsley, C., & Nocton, J. (2006).
Ophthalmologic examinations in children with
juvenile rheumatoid arthritis. Rheumatology, 117,
18431845.
Chen, J., & Smith, L. E. H. (2007). Retinopathy of prematurity. Angiogenesis, 10, 133140.
Cremers, F. P. M., & Collin, R. W. J. (2009). Promises and
challenges of genetic therapy for blindness. Lancet,
374, 15971605.
Cumberland, P., Rahi, J. S., & Peckham, C. S. (2004).
Impact of congenital colour vision deficiency on education and unintentional injuries: Findings from the
1958 British birth cohort. British Medical Journal,
329, 10741075.
Department of Health National Screening Committee.
(2005). Child health sub-group report on congenital
cataract. www.screening.nhs.uk. Accessed 25 July
2011.
Evans, J. R. (1995). Causes of blindness and partial sight
in England and Wales 199091, Studies on medical and population subjects (Rep. No. 57). London:
HMSO.
Fulton, A. B., Hansen, R. M., & Manning, K. A. (1981).
Measuring visual acuity in infants. Survey of Ophthalmology, 25, 325332.
Gilbert, C. (2008). Retinopathy of prematurity: A global
perspective of the epidemics, population of babies at
risk and implications for control. Early Human Development, 84, 7782.
151
Gilbert, C., & Foster, A. (2001). Childhood blindness in
the context of VISION 2020the right to sight. Bulletin of the World Health Organization, 79 (3), 227232.
Gilbert, C., & Muhit, M. (2008). Twenty years of childhood blindness: What have we learnt? Community Eye
Health, 21, 4647.
Goren, C. C., Sarty, M., & Wu, P. Y. (1975). Visual following and pattern discrimination of face-like stimuli
by newborn infants. Paediatrics, 56, 544549.
Haines, L., Fielder, A. R., Baker, H., & Wilkinson, A.
R. (2005). UK population based study of severe retinopathy of prematurity: Screening, treatment, and outcome. British Medical Journal, 90, F240.
Hammersmith, K. M., Cohen, E. J., Blake, T. D., Laibson,
P. R., & Rapuano, C. J. (2005). Blepharokeratoconjunctivitis in children. Archives of Ophthalmology,
123, 1667.
Hooks, B. M., & Chen, C. (2007). Critical periods in the
visual system: Changing views for a model of experience-dependent plasticity. Neuron, 56, 312326.
Hoyt, C. S., Nickel, B. L., & Billson, F. A. (1982). Ophthalmological examination of the infant. Developmental aspects. Survey of Ophthalmology, 26, 177189.
Jordan, T., Hanson, I., Zaletayev, D., Hodgson, S., Prosser,
J., Seawright, A., etal. (1992). The human PAX6 gene
is mutated in two patients with aniridia. Nature Genetics, 1, 328332.
Keil, S. (2003). Survey of educational provision for blind
and partially sighted children in England, Scotland
and Wales in 2002. British Journal of Visual Impairment, 21, 93.
Kivel, T. (2009). The epidemiological challenge of the
most frequent eye cancer: Retinoblastoma, an issue of
birth and death. British Journal of Ophthalmology, 93,
1129.
Lambert, S. R., Lynn, M. J., Reeves, R., Plager, D. A.,
Buckley, E. G., & Wilson, M. E. (2006). Is there a
latent period for the surgical treatment of children
with dense bilateral congenital cataracts? Journal of
AAPOS, 10, 3036.
Leo, I., & Simion, F. (2009). Face processing at birth: A
Thatcher illusion study. Developmental Science, 12,
492498.
Lewis, T. L., Maurer, D., & Brent, H. P. (1995). Development of grating acuity in children treated for unilateral
or bilateral congenital cataract. Investigate Ophthalmology and Visual Science, 36, 20802095.
MacCarthy, A., Birch, J. M., Draper, G. J., Hungerford, J.
L., Kingston, J. E., Kroll, M. E., etal. (2009). Retinoblastoma in Great Britain 19632002. British Medical
Journal, 93, 33.
Maida, J. M., Mathers, K., & Alley, C. L. (2008). Paediatric ophthalmology in the developing world. Current
Opinion in Ophthalmology, 19, 403408.
Marees, T., van Leeuwen, F. E., de Boer, M. R., Imhof,
S. M., Ringens, P. J., & Moll, A. C. (2009). Cancer
mortality in long-term survivors of retinoblastoma.
European Journal of Cancer, 45, 32453253.
Marr, J. E., Halliwell-Ewen, J., Fisher, B., Soler, L., &
Ainsworth, J. R. (2001). Associations of high myopia
in childhood. Eye (London), 15, 7074.
152
Mayer, D. L., Beiser, A. S., Warner, A. F., Pratt, E. M.,
Raye, K. N., & Lang, J. M. (1995). Monocular acuity
norms for the Teller Acuity Cards between ages one
month and four years. Investigate Ophthalmology and
Visual Science, 36, 671685.
Morrison, D., FitzPatrick, D., Hanson, I., Williamson, K.,
van Heyningen, V., Fleck, B., etal. (2002). National
study of microphthalmia, anophthalmia and coloboma
(MAC) in Scotland: investigation of genetic aetiology.
Journal of Medical Genetics, 39, 16.
Negrel, A. D., Maul, E., Pokharel, G. P., Zhao, J., & Ellwein, L. B. (2000). Refractive error study in children:
Sampling and measurement methods for a multi-country survey. American Journal of Ophthalmology, 129,
421426.
OSullivan, J., Gilbert, C., & Foster, A. (1996). The causes
of childhood blindness in South Africa. City, 1, 4.
Papadopoulos, M., Cable, N., Rahi, J., & Khaw, P. T.
(2007). The British Infantile and Childhood Glaucoma (BIG) eye study. Investigate Ophthalmology
and Visual Science, 48, 41004106.
Rahi, J. S., & Dezateux, C. (2000). Congenital and infantile cataract in the United Kingdom: Underlying or
associated factors. British Congenital Cataract Interest Group. Investigate Ophthalmology and Visual Science, 41, 21082114.
Rahi, J., Logan, S., Timms, C., Russell-Eggitt, I., & Taylor, D. (2002a). Risk, causes and outcomes of visual
impairment after loss of vision in the non-amblyopic
eye: A population-based study. Lancet, 360, 597602.
Rahi, J. S., Logan, S., Borja, M. C., Timms, C., RussellEggitt, I., Taylor, D. (2002b). Prediction of improved
vision in the amblyopic eye after visual loss in the
non-amblyopic eye. Lancet, 360, 621622.
Rahi, J., Tadic, V., Keeley, S., & Lewando, H. G. (2010).
Capturing children and young peoples perspectives to
identify the content for a novel vision-related quality
of life instrument. Ophthalmology, 118(5), 819-824.
Resnikoff, S., Pascolini, D., Etyaale, D., Kocur, I., Pararajasegaram, R., Pokharel, G. P., etal. (2004). Global
data on visual impairment in the year 2002. Bulletin of
the World Health Organization, 82, 844851.
Resnikoff, S., Pascolini, D., Mariotti, S. P., & Pokharel,
G. P. (2008). Global magnitude of visual impairment
caused by uncorrected refractive errors in 2004. Bulletin of the World Health Organization, 86, 6370.
Ricci, D., Cesarini, L., Groppo, M., De, C. A., Gallini,
F., Serrao, F., etal. (2008). Early assessment of visual
function in full term newborns. Early Human Development, 84, 107113.
Rosenberg, T., Haim, M., Hauch, A. M., & Parving, A.
(1997). The prevalence of Usher syndrome and other
retinal dystrophyhearing impairment associations.
Clinical Genetics, 51, 314321.
Salomao, S. R., & Ventura, D. F. (1995). Large sample
population age norms for visual acuities obtained with
VistechTeller Acuity Cards. Investigate Ophthalmology and Visual Science, 36, 657670.
Saw, S. M. (2009). A synopsis of the prevalence rates and
environmental risk factors for myopia. Clinical and
Experimental Optometry, 86, 289294.

Scheiman, M. M., Hertle, R. W., Beck, R. W., Edwards, A.
R., Birch, E., Cotter, S. A., etal. (2005). Randomized
trial of treatment of amblyopia in children aged 717
years. Archives of Ophthalmology, 123, 437.
Schemann, J. F., Banou, A., Malvy, D., Guindo, A., Traore,
L., & Momo, G. (2007). National immunisation days
and vitamin A distribution in Mali: Has the vitamin A
status of pre-school children improved? Public Health
Nutrition, 6, 233240.
Shah, S. P., Taylor, A., Sowden, J. C., Ragge, N. K., Russell-Eggitt, I., Rahi, J. S., Gilbert, C. E., & Surveillance of Eye Anomalies (SEA-UK) Special Interest
Group. (2011). Anophthalmos, microphthalmos and
typical coloboma in the UK: A prospective study of
incidence and risk. Investigate Ophthalmology and
Visual Science, 52(1), 558564.
Stewart, C. E., Moseley, M. J., Stephens, D. A., & Fielder,
A. R. (2004). Treatment dose-response in amblyopia therapy: The Monitored Occlusion Treatment of
Amblyopia Study (MOTAS). Investigate Ophthalmology and Visual Science, 45, 30483054.
Taylor, D., & Hoyt, C. S. (2007). Paediatric ophthalmology and strabismus (4th ed.). Philadelphia: WB Saunders Ltd.
Teller, D. Y. (1997). First glances: The vision of infants
the Friedenwald lecture. Investigate Ophthalmology
and Visual Science, 38, 2183.
Tornqvist, K., Ericsson, A., & Kallen, B. (2002). Optic
nerve hypoplasia: Risk factors and epidemiology. Acta
Ophthalmologica Scandinavica, 80, 300304.
van Leeuwen, R., Eijkemans, M. J. C., Vingerling, J. R.,
Hofman, A., de Jong, P. T. V. M., & Simonsz, H. J.
(2007). Risk of bilateral visual impairment in individuals with amblyopia: the Rotterdam study. British
Journal of Ophthalmology, 91, 1450.
Wiesel, T. N., & Hubel, D. (1963). Single-cell responses
in striate cortex of kittens deprived of vision in one
eye. Journal of Neurophysiology, 26, 10031017.
Williams, C., Northstone, K., Howard, M., Harvey, I.,
Harrad, R. A., & Sparrow, J. M. (2008). Prevalence
and risk factors for common vision problems in children: Data from the ALSPAC study. British Journal of
Ophthalmology, 92, 959.
Wolfson, L. J., Strebel, P. M., Gacic-Dobo, M., Hoekstra, E. J., McFarland, J. W., & Hersh, B. S. (2007).
Has the 2005 measles mortality reduction goal been
achieved? A natural history modelling study. Lancet,
369, 191200.
World Health Organization. (2006). International statistical classification of diseases and related health
problems (10th Revision). Geneva: World Health
Organisation (On-line). Available: http://apps.who.int/
classifications/apps/icd/icd10online/.
World Health Organization. (2009). Visual impairment
and blindness: Fact sheet no. 282.
World Health Organization & International Agency for
the Prevention of Blindness (IAPB). (2005). Vision for
children. A global overview of blindness, childhood
and VISION 2020: the right to sight. Geneva: World
Evaluating School-Aged Children

with Visual Disabilities
Diane B. Whitaker and Elana M. Scheiner
Abstract
There is no aspect of a childs development that is unaffected by vision.

Interpreting or localizing targets is much easier for those items visual in
nature as compared with other sensory perceptions. This chapter outlines
low-vision rehabilitation (LVR) early diagnosis and intervention procedures for children with visual conditions, low vision, and blindness. We
place emphasis on a discussion of evaluation and treatments that will be
useful for parents and caregivers of children with special health care needs
(CSHCN). Early intervention, usually at the time of diagnosis of ocular
disease is necessary to prevent needless frustration and anxiety for the
child and their parents about their prognosis for continued visual functioning, no matter the level. All of a childs healthcare providers should play a
collaborative and supportive role during a childs developmental years to
insure each one meets their unique and optimal potential so that they may
grow into well-rounded, fully functional adults who are able to participate
in and contribute to society in a meaningful way.
Abbreviations
DMV Department of Motor Vehicles

IEP Individualized Education Program
LVR Low Vision Rehabilitation
MVA Motor Vehicle Accidents
NC-APVI North Carolina Association for Parents of Children with
Visual Impairments
NoIR No Infra-Red light filter
D. B. Whitaker ()
Duke University Eye Center, PO Box 3802,
Durham, NC, USA
e-mail: diane.whitaker@duke.edu
E. M. Scheiner
Family Eye Care of Apex, 113 Salem Towne Court,
Apex, NC 27502, USA
e-mail: mieoptic@mac.com
153
154
O&M Orientation and Mobility Specialist

OT Occupational Therapist
PRL Preferred Retinal Locus
TVI Teacher of the Visually Impaired
UV Ultraviolet
8.1Introduction
There is no aspect of a childs development that
is unaffected by vision. Interpreting or localizing
targets is much easier for those items visual in
nature as compared with other sensory perceptions. Therefore, vision is a necessary tool for
children to gain a consistent and organized view
of the world (Brennan et al. 1992). LVR is the
discipline of comprehensive evaluation of visual
function, identification of visual goals, and the
recommendation and prescribing of assistive and
adaptive devices and training for individuals who
have experienced irreversible vision loss of any
origin. The ultimate goal of vision rehabilitation
is to enable the child to be able to participate in a
meaningful way in mainstream society.
Worldwide, there are an estimated 180million
people who have a visual impairment. Among
them, 45million are blind and 135million have
partial sight. In other words, there are three times
as many visually impaired people than those
who are legally blind. Moreover, legal blindness
is 200 times more frequent in individuals with
handicaps than in those without handicaps (Halton 2001).
Vitamin A deficiency is the leading cause of
childhood blindness, responsible for an estimated
70% of the 500,000 children who become blind
each year (Thylefors et al. 1995). The data indicate that the predominant causes of blindness
among children in the poorest countries of the
world include: corneal scarring due to Vitamin A
deficiency, measles infection, ophthalmia neonatorum, and the effects of harmful traditional eye
remedies (Gilbert and Foster 2001).
A study of children in schools for the blind
in the United States revealed that 19% of 2,553
children were cortically blind, and 12% had visual loss from optic atrophy or optic nerve hypoplasia (Steinkuller etal. 1999). Among children
D. B. Whitaker and E. M. Scheiner
of age 5 and younger, prenatal cataract is the

leading cause of legal blindness accounting for
16% of all cases, followed by 12% with Optic
Nerve Atrophy and 9% with Retinopathy of Prematurity (Kahn etal. 1977). In general, cataracts
alone do not cause blindness, but secondary eye
conditions such as sensory nystagmus exacerbate
blindness. Among students who have disabilities,
students with sensory impairments are the most
likely to graduate from secondary school with
73% of those with visual impairments doing so
(Kaye 2002).
Ideally, a child should be referred to a LVR
specialist before they start school. Comprehensive vision rehabilitation is performed by an
optometrist or ophthalmologist trained in vision
rehabilitation. The supervising physician will
take into account all aspects of the childs physical, cognitive, and visual ability. Other allied
healthcare professionals may perform various
aspects of the evaluation under the supervision
of the vision rehabilitation physician. Ultimately,
however, it is the physicians responsibility to
develop the comprehensive vision rehabilitation
plan that will guide the visually impaired childs
rehabilitation process. The physician also should
systematically reevaluate the childs progress and
modify the interventions, as needed.
The comprehensive LVR examination is elemental on many levels. The primary intervention is the recommendation of appropriate aids
to benefit the child in the classroom and in the
community. Of equal importance is the training
on the use of these devices since poor training is a
major obstacle to compliance with and efficiency
of device utilization.
Furthermore, the parents are educated on their
childs abilities and limitations and given appropriate expectations for their childs visual capabilities which can often be underestimated. Often
times the parents have already heard the phrase
there is nothing more that can be done regarding their childs ocular condition since medical
and surgical interventions may have been exhausted or maximized. Subsequently, parents
will often limit their expectations for their childs
future success. LVR equips parents of children
with disabilities to participate in the process of
8 Evaluating School-Aged Children with Visual Disabilities

Table 8.1 Six levels of visual impairment
Visual impairment
status
Minimal
Moderate
Severe
Profound
Near total
Total
Visual acuity
in better eye
>20/60
<20/60
20/200
20/400
20/1,000
No Light Perception (NLP)
Visual field in
better eye
20
10
their childs success by providing them with the

resources and information they need.
8.1.1Visual Impairment
Classifications
Vision loss is not an all or none phenomenon,
as many inaccurately presume. In fact, the majority of individuals with vision loss have some
level of remaining usable vision. Visual impairment is classified by the level of visual acuity
and remaining visual field. There are six levels
of visual impairment based on these criteria. The
standard definition of legal blindness is bestcorrected vision of 20/200 or less in the better
eye using standard Snellen chart or less than 20
of remaining visual field with a Goldmann III4e
target in the better eye (Table8.1).
8.1.2Early Intervention
The importance of early intervention cannot be
overstated. There are developmental, psychosocial, and physical-motor advantages for children
receiving early intervention. Psychosocially it
has been shown that the earlier in life a child is
exposed to assistive devices, such as magnifiers
and telescopes, the more likely they are to accept
device usage without fear of being different
from their peers (Ritchie etal. 1989). For example, a very young child may accept any device
that will enable them to perform a desired task,
such as spotting a map on the back of a cereal
box. However, that same child after the age of 10
years might resist the devices benefits based on
aesthetics and wanting to fit in with their peers.
155
It is imperative that a formal low-vision evaluation be performed before device usage is initiated. Ideally, the child will already have a support
team in place to implement the vision rehabilitation plan in the childs home and classroom settings. The support team consists of, at a minimum, a parent, a teacher of the visually impaired
(TVI), and an orientation and mobility specialist (O&M) working under an IEP. Occupational
or physical therapists, audiologists, and speech
therapists may be part of the vision rehabilitation
team, making LVR a multidisciplinary intervention.
8.2LVR Evaluation
The LVR examination begins at an initial contact noting if the child initiates and maintains eye
contact, demonstrates a head turn or tilt, or has a
physical disability. The childs gait is observed
to see if they are able to ambulate independently. For example, if they suffer from central field
loss, they may walk quickly and locate the examination chair without difficulty, but if they suffer
from a field constriction, they move more slowly
and cautiously with the aid of another individual
or parent.
The visual rehabilitation examination is unlike primary care ocular evaluations in which the
focus is on ocular health rather than visual function. There is added emphasis on public safety,
optimal development, and achievement of functional goals in the classroom that will translate
into success in the external environment.
8.2.1Comprehensive Medical History

A thorough, comprehensive medical history is
taken, including a review of the individuals ability to perform activities of daily living. This initial discussion tends to lessen the childs anxiety
as they realize their goals will be addressed, possibly, for the first time.
Information about the onset, duration, and
prognosis for progression of the visual condition
is useful in predicting the childs level of adjustment to vision loss. Children born with vision loss
156
as the result of a nonprogressive disease process

will tend to adapt more easily since they have no
previous visual habits to overcome. Conversely,
a child born with normal vision that develops
a progressive disease in late childhood or early
adolescence will tend to have greater difficulty
adjusting to loss of visual function throughout
the disease process.
In addition, an inventory of current optical
aides is taken to determine what the child is using
and how well it is working. Many times the parents or other members of the support team can
provide valuable insight into the childs level of
function with each device.
Parents or the TVI may have specific goals
for the child with their devices. These goals may
be delineated in the TVIs functional evaluation,
which may be performed before the low-vision
examination. For example, the child may not
see the blackboard seated in the front row of the
classroom, which may be 810feet away; or, the
child may be experiencing difficulty with near or
intermediate tasks, such as writing or computer
work. Parents may also have functional goals for
the child at home, such as the ability to prepare
their own food or perform specific chores. Both
the parents and the child may share goals that
relate to community participation in social and
sporting events, as well.
8.2.2Visual Acuity
Visual acuity is defined as the ability to resolve
detail and is assessed by the smallest identifiable object that can be seen at a specific distance,
usually 20 feet for distance measurements and
16 inches for near. However, children with visual impairment tend to read with a much closer
working distance, even a few inches from their
noses, if their acuity is significantly reduced.
Therefore, near acuity should be measured at the
preferred or optimal viewing distance. Repeated
and consistent measurements are necessary since
performance at any given time can be affected by
numerous issues, such as cooperation and fatigue.
Hand helds or charts on a rolling stand provide
multiple advantages. These include better van-
tage point for the examiner to observe the childs

eye movements, easier mathematical conversion
of visual acuity, and the ability to vary illumination without sacrificing contrast. Distance visual
acuity measurements are usually performed at
610feet but can be performed closer when visual impairment is more profound.
A plastic or cloth patch is used to occlude the
better seeing eye. Some argue that the worse eye
should be patched first as to encourage the child
with a success-oriented examination. However,
by testing the poorer seeing eye first, memorization of chart is not as likely. It should be noted
that there are children who may not tolerate a
patch. In those cases, the child may sit on the
parents lap and the parent may use their hand
to occlude the appropriate eye during the initial
acuity measurement.
Visual acuity is measured with and without
correction. It is also important to note which type
of overhead lighting yields optimal vision for the
child during this test, as variations in illumination
can affect performance.
The acuity assessment also reveals the optimal eccentric viewing position. It is common for
ocular pathology to rob the child of either peripheral vision (Glaucoma or Retinitis Pigmentosa)
or central vision (Stargardts Disease or Ocular
Albinism). See Table8.2 for eye pathologies and
associated functional challenges (Brennan et al.
1992). Usually in cases where the central vision
is impaired or a scotoma exists, an area of viable
retinal tissue near the dysfunctional macula can
be used to fixate and becomes known as the preferred retinal locus (PRL).
The PRL allows for viewing eccentrically or
away from center (Whittaker et al. 1988). It is
important for the childs support team to recognize eccentric viewing since it might appear that
the child is not paying attention or being rude or
disrespectful when not looking an adult in the
eye. A child with a central scotoma will need
to move their eyes or head when viewing eccentrically, and the parents and support team should
recognize this as natural and necessary.
For children who do not know the alphabet
or who are nonverbal, LEA symbols that have
a series of four repeating symbols (see Fig.8.1)
157

Table 8.2 Eye pathologies and common functional problems. (Brennan etal. 1992)
Pathology
Albinism
Secondary conditions
Nystagmus
Aniridia
Variable
Glaucoma, cataracts,
nystagmus, displaced lens,
corneal opacification
Glaucoma, retinal
Nonprogressive
detachments
Aphakia
Prognosis
Nonprogressive
Cataracts
Glaucoma
Coloboma of Iris or
choroid
Cortical visual
impairment
Microphthalmia
Progressive to total
opacification
Nonprogressive
Eye is normal upon

examination
Some early improvement possible
Nystagmus
Usually is an accompanying condition

Glaucoma, retinal detachments, cataracts
Corneal edema and scarring, optic atrophy
Diabetic retinopathy
Glaucoma
Hemianopsia
Optic atrophy
Optic nerve
hypoplasia
Pathological myopia
Retinitis pigmentosa
Retinopathy of prematurity (ROP)
Nystagmus
Peripheral field distortions, loss of

accommodation, poor depth perception, glare/photophobia
Scotomata, glare/photophobia, constricted pupil
Visual acuity loss, visual field loss
Visual abilities fluctuate, poor depth

perception, sees best when moving,
tunnel vision common
Nonprogressive
Possible fixation difficulty, reduced
acuity
Progressive
Gradual loss of vision, fluctuating
vision
Progressive and
Constricted visual fields, night blindnonprogressive
ness, light adaptation, glare/photophobia, effects of medication
Nonprogressive
Loss of half of visual field, reading
struggles
Progressive and nonpro- Scotomata
gressive forms
Nonprogressive
Visual field loss, visual acuity loss
Retinal detachments, cata- Progressive

racts, macular hemorrhaging, amblyopia
Cataracts, glaucoma
Progressive
Myopia, cataracts, glaucoma, strabismus, retinal
detachments, retinopathy
Common functional problem

Glare/photophobia, nystagmus, congenitally poor visual acuity
Poor light adaptation, glare/
photophobia
Dependent on severity
house, heart, circle, and square can be used for

matching purposes. The child is asked to look at
the symbol being presented to them and point to
the corresponding symbol placed on their lap.
8.2.3Contrast Sensitivity
The issue of contrast sensitivity is another factor that may be assessed during the low-vision
evaluation or it may be referred to the TVI. Contrast sensitivity refers to the ability to see differences in the brightness of objects against their
Peripheral field distortions

Constricted visual fields, glare/photophobia, night blindness, poor light
adaptation
High levels of illumination
background. Ocular pathologies that can affect

contrast sensitivity include Optic Atrophy, Cataracts, Glaucoma, Aphakia, Achromatopsia, and
any media opacity.
If contrast sensitivity is reduced, it can impact
facial recognition, reading efficiency, and safe
mobility on steps and curbs. Contrast sensitivity
will also influence the types of devices that may
be used to improve functional ability. High-contrast nonoptical aids like bold-lined paper, writing guides, and computer keyboards are often
used to maximize performance.
158
Fig. 8.1 Visual acuity

assessment scale using
nonverbal LEA symbols
that have a series of four
repeating symbols
Teachers should understand the importance of

contrast in the classroom when using dry erase
or chalk boards. For example, a red marker on a
white board will be more difficult to see than a
black one. A black chalk board with white chalk
will be much easier to see than a green board and
colored chalk. Electronic presentations should
also maximize contrast by limiting color on color
slides. Black-lined paper and notebooks will be
easier to use than blue or green ones.
The trim and wall colors in the classroom
should also be painted in contrasting colors to
allow the child to find doorways, windows, and
exits with greater ease. Furniture should be selected that is a contrasting color to floors and
walls, as well.
8.2.4Ocular Motility and Alignment

Binocular status is measured and observed to
determine if the child uses both eyes together
simultaneously or if strabismus (eye turn) is
present. In the general population, strabismus is
found in about 5% of children. However, certain
populations will have an increased incidence of

strabismus. For example, about 50% of cerebral
palsy patients will have strabismusa tenfold increase (Gnadt and Wesson 1992).
The childs ability to follow a moving target
with each eye is assessed to determine whether
eye movements are smooth and accurate or not
since this is critical for reading and tracking moving objects. Smooth pursuits are also necessary
for mobility and physical motor coordination.
8.2.5Visual Field
Visual field testing should be performed to localize scotomata (blind spots) or areas of peripheral
constriction. Scotomata located in the central 30
around fixation can be evaluated with Face Fields
in children able to understand the directions provided by the examiner. The examiner is seated at
eye level with the child who has one eye covered.
The child is asked to locate the examiners nose
and describe any areas on the examiners face
that are missing, blurred, or distorted. The test
is performed with the better seeing eye first to
ensure the child understands the test. Amsler grid

testing may be performed in older children for
the same purpose.
Peripheral visual field evaluation can be performed on children by confrontation visual field
(CVF) testing. During CVF testing, the child is
asked to count the number of fingers presented in
each quadrant (superior, inferior, nasal, and temporal) or to identify an object in each quadrant
while one eye is occluded and central fixation is
maintained.
Older children may be able to perform static or kinetic perimetry using an automated or a
manual perimeter. This type of testing provides
the exact diameter of visual field in degrees and
reveals the size and severity of scotomata. Goldmann visual field testing is the preferred method
for perimetry since the technician performing the
test can make adjustments throughout the evaluation, as needed, to insure more reliable results.
8.2.6Low-Vision Refraction
An objective measurement of refractive error
is required before refraction is attempted. This
measurement is usually acquired from retinoscopy or from automatic refractors. Infants and very
young children cannot be refracted or scoped behind a phoropter, and automatic refractors rarely
provide reliable results.
Trial frame refraction is the preferred method
to determine the subjective refractive endpoint
since it provides a more natural feeling to the
child like a pair of glasses. It also enables the
child to assume his or her best eccentric view
with any compensatory head turn or tilt or body
posture. Cycloplegic agents are usually required
to fully relax accommodation so that a true endpoint can be derived. In many cases, corrective
lenses will enhance visual function with and
without other low-vision devices.
Once the best possible distance visual acuity
is determined, near function is evaluated using a
series of specially designed reading charts with
text varying in size from 10 to 0.4 M. Loose
lenses are used to determine whether the child
may benefit from a separate pair of reading
159
glasses for extended near work or not. Furthermore, if the child is not meeting reading expectations based on their distance acuity, this may
indicate problems with tracking or issues related
to cognitive insufficiencies (Koenig and Holbrook 1991).
8.2.7Response to Magnification
There are four types of magnification:
1. Relative distance magnification: Relative distance magnification occurs when an object is
moved closer to the viewers eye increasing
the size of the image on the retina. This principle is used when child moves closer to the
board at school or to the television to see more
easily. It is also the type of magnification used
in high-powered reading glasses which simulate a closer viewing distance for the eye.
2. Relative size magnification: Relative size
magnification occurs when an object is physically made larger to produce a larger image on
the retina. The principle is demonstrated most
commonly with the use of large-print books
and other large-print items.
3. Angular magnification: Angular magnification is created by high-powered convex lenses which make the object of interest appear
larger by altering its angular subtense on the
retina. The higher the power of the lens used,
the greater the amount of magnification created. However, the greater the magnification,
the smaller the field of view of the device;
therefore, magnification and field of view
must both be considered. Hand-held magnifiers, stand magnifiers, and telescopes utilize
this type of magnification. Angular magnification can be especially useful when central
blind spots are present because they enlarge
the information around the blind area, which
effectively makes it smaller and less bothersome.
4. Electronic or projected magnification: Electronic or projected magnification is created
by digital cameras. Some examples of electronic magnifiers are closed circuit televisions
(CCTVs) and some types of computer mag-
160
Fig. 8.2 Hand-held magnifiers come in different

colors and stand magnifiers come in shapes of
various animals
nification software. Electronic magnification

is the optimal type of magnification because
it allows the greatest amount of magnification with the least restricted field of view and
allows for contrast to be enhanced, as well.
Electronic devices may also be more socially
acceptable since many children use personal
electronic devices, such as video game players
and computers. These devices are available in
both desktop and portable versions.
8.2.7.1Near Magnifiers
The hand-held magnification evaluation is performed to determine which type and power of
magnifier will best suit the child. This is can be
done using numbers on a Feinbloom near card
which controls for crowding with a typoscope.
Observation of device handling assists in
identifying potential near-spotting difficulties the
child may encounter which will ultimately determine which type of device is more acceptable.
Magnifiers can be hand held above the object of
interest or can stand flat against it. For spotting
a detail on a cereal box or toy, a hand-held magnifier might work best. However, for classroom
purposes, the stand magnifiers enable the child to
see something clearly on a worksheet, take notes,
and view objects at a distance with minimal interruption.
With younger children the goal is to get them
excited about using the device to ensure compliance with it. Hand-held magnifiers come in different colors and stand magnifiers come in shapes
of various animals (Fig.8.2). The younger a child

is exposed to low-vision aids, the greater the
likelihood of them using those aids as they get
older, which is needed to maintain a high level
of visual function in school and ultimately in
the workplace (Cowan and Shelper 1990). Even
preschoolers may be exposed to these devices to
begin to mold their psyches and to demonstrate
that it is acceptable for them to use an aid since it
will enable them to function at a level consistent
with their more-sighted peers.
8.2.7.2Distance Devices
Typically, the most exciting part of the examination from a childs perspective is the demonstration of telescopes (Fig.8.3). The monocular telescope evaluation is performed using the better
seeing eye or dominant eye. The TVI and O&M
specialists functional assessment may also influence the telescope ultimately recommended.
Many factors come into play when selecting
a monocular for a child since comorbid conditions, such as poor physical-motor control (Cerebral Palsy), limited cognitive ability (Down
syndrome), photosensitivity and glare issues
(Ocular Albinism), and reduced peripheral fields
(Glaucoma) can compound visual disability.
Telescopes provide magnification of distance objects, but like near magnifiers, the field of view
decreases with increasing magnification. Therefore, adequate visual field diameter is needed
and should be measured prior to telescope demonstration.
161
Fig. 8.3 Distance

devicestelescopes
Furthermore, different types of telescopes

possess different characteristics such as the optical quality, light-gathering ability, focal length,
field of view, durability, cost, and availability.
Other considerations for telescope type include
the physical size of childs hand versus the size of
the telescope, portability, cosmesis, ease of use,
and personal preference.
Manual and auto-focusing telescopes are
available and the type selected is dependent on
the previously mentioned characteristics of the
individual using the device. It is important to
stress to the patient and the parent that the goal
is better function and not necessarily to see 20/20
with the device. It is equally important to stress
that telescopes are spotting devices that are not
used for continuous viewing due to the resultant
limited field of view.
Monocular telescopes are especially useful
when dealing with younger children learning orientation and mobility techniques, such as target
localization, scanning, and overall proprioception. Some begin with a pre-telescope such as
a paper towel tube to emphasize the basic idea of
the shape of the device as well as the inevitable
limited field of view. Ultimately, the telescopes
can be mounted in spectacles depending on either
their academic or vocational needs.
Spectacle-mounted bioptic (Fig. 8.4) telescopes may be used for spotting a blackboard or
signs which requires the telescope to be mounted
toward the top of the spectacle lens. This allows
the child to view the majority of the time through

the spectacle lens carrier which may include correction of refractive error. To use the telescope
the child simply depresses their chin to view
through the scope long enough to identify the
object of interest. This type of system does not
interfere with ambulation. Subsequently, bioptic
telescopes can be used in some states for driving.
Full diameter telescopes are mounted centrally which is useful for either television viewing
or extended computer work. Due to the limited
field of view of the scope, the child needs to be
stationery to use it. Some full diameter telescopes
can be outfitted with a reading lens or cap that
allows the device to be used for distance and near
tasks. Binocular telescopes can be used in cases
when both eyes have fairly equal visual ability.
However, this is not always the case.
8.2.8Lighting and Glare Control

8.2.8.1Absorptive Filters
Filter evaluation addresses glare which is associated with many ocular diseases. Glare and
light sensitivity are particularly troublesome
with Ocular Albinism and Aniridia. Lighting
and glare go hand-in-hand. Illumination has a
powerful impact on all other functions. Quantity and wavelength of light can be controlled
by many different types of filters, such as in ultraviolet (i.e., UV) shields or No Infrared light
162
Fig. 8.4 Spectaclemounted bioptic telescopes
Fig 8.5 NoIR filters
(i.e., NoIR; Fig.8.5) filters. Colored filters filter

out specific wavelengths of light which can be
problematic in different disease processes. NoIR
filters vary in percent of transmission of light
with the lighter shades allowing a higher percent
transmission than the darker ones. These are
useful in varying light levels, such as indoors
and outdoors.
Photochromatic lenses darken when exposed
to UV-light outdoors and lighten in ambient-light
indoors. Many colors of photochromic lenses are

available and provide the convenience of varying levels of transmission in one pair of glasses.
Photochromic lenses are available in many different lens materials; however, glass photochromatic spectacles should never be prescribed for
children due to safety concerns.
It is not uncommon to prescribe different
filters to accommodate the childs lifestyle and
daily environment, which is rarely a constant. As
every individual is different, filter recommendations are always dictated by the type of ocular
pathology and the childs expressed symptoms of
photophobia or glare.
8.2.8.2Full-Spectrum Lighting
Proper illumination is critical for optimal visual
function. The type, direction, and intensity of the
light are important to reduce unwanted, bothersome glare, to maximize contrast and allow for
truer color perception. In general, full-spectrum
or daylight type lights allow for these factors.
Unfortunately, many schools rely on fluorescent
or other types of low-energy light sources that do
not allow for optimal viewing. Whenever possible, adjustments should be made at home or in
the classroom to allow for optimal lighting.
8.3Vision Rehabilitation Plan

The ultimate product of the LVR evaluation is
formulation of the physician-generated comprehensive vision rehabilitation (VR) plan of care
for each child. The LVR plan of care can be reflected in the IEP for the professionals working
with the child in the school setting, such as the
TVI. Individual physician orders may also be
written for orientation and mobility assessment
and training, and evaluation and training by OTs
or speech therapists. The comprehensive plan
should also cover all aspects of functioning outside of the school setting to insure public safety
and maximum community participation.
8.3.1Role of TVI
One of the most valuable referrals a low-vision
doctor can make is for the TVI to conduct a learning and reading media assessment that truly measures a childs fluency with regular print using
reading glasses or a magnifier, compared with
large print or Braille. Visual efficiency and factors of fatigue must be considered when weighing media options to provide sustained ability to
perform required tasks. While the definition and
purpose of the learning media assessment are
163
well defined by the State Board of Education and

Individuals with Disabilities Act, the exact definition of literacy, with regards to visual impairment, is left unclear.
The learning media assessment has three areas
of focus with the most vital being the efficiency
with which the student gathers information from
various sensory channels including visual, tactual, and auditory. This leads to the selection of
the initial literacy medium, which can begin at
infancy and continue through formal literacy instruction.
Some students require more than one literary medium to be successful in school. A student might need Braille for taking notes, speech
output on the computer, a scanner or audiotapes
for reading novels, and large print for math. A
childs personal journey to literacy is subsequently shaped by the recommendations made in the
LVR plan of care.
The TVI is trained to try nonoptical aides for
the childs benefit when necessary. Examples include external light sources, such as gooseneck
lamps with rheostats, colored filters over near
work to enhance contrast, line guides, and typoscopes. Typoscopes can be useful to minimize
glare from a worksheet and enhance the contrast
of the reading material and reduce visual clutter.
Slant boards or reading stands help alleviate head
and neck strain created by devices that require
closer working distances for near tasks.
Moreover, the task of addressing all the contributing factors inhibiting or allowing for fluent near function falls under the umbrella of the
TVIs. As previously mentioned, visual function
is shaped by the childs adjustment for crowding, clutter, color, contrast, and size of the text.
In addition, physical factors, such as subtle fatigue, distracting noises, and even blood sugar,
and body temperature fluctuations may also affect function (Bistrian 2003).
8.3.1.1IEP
IEP is a written plan of care for each child and
includes levels of performance, annual goals, services to be provided, and procedures for evaluating progress. An IEP conference is held yearly to
develop the details of the plan and is attended by
164
all personnel providing services to the child, as

well as parents, and a school district representative. Key school staff and the childs parents develop the IEP. Each specialist writes their own
portion of the final plan.
Typically the IEPs are updated every 3 years.
Therefore, it is recommended to repeat the lowvision examination at least every 3 years to establish new goals and/or to address reduced function
from progressive vision loss.
8.3.1.2Mainstreaming
Enabling a child to participate in the least restrictive academic environment possible is referred to
as mainstreaming. Mainstreaming is dependent
upon the individual childs abilities and skills
acquired through their current age/stage. Consequently, the decision to place a child in a mainstream classroom requires collaboration of the
support team and is based on the assessed specialized needs of that child.
Since federal law mandates that free appropriate public education is to be made available to
all children with handicaps between the ages of
5 and 22 years, open lines of communication are
very important. Parents should be counseled regarding what they should expect from the child
in the coming years. They must understand that
the aides are not a cure or reversal of the ocular pathology and that the child will need them
to function. Furthermore, the low-vision doctor
disseminates the Plan of Care (POC) to all other
care givers so that parents and teachers are properly educated about the childs condition and
the specific components of the LVR plan for the
classroom and home settings are outlined.
8.3.1.3Comorbid Disabilities
Of particular importance is comorbid cognitive
impairment in the presence of ocular disease.
Typically, the parents of such children believe the
source of their childs limited academic success
is the ocular disease, when, in fact, the visual impairment is secondary to a cortical impairment.
In addition, with a child that has multiple handicaps, visual impairment may not be the most limiting condition for that child. Moreover, when the
appropriate assistive devices are available in the
classroom, the childs visual impairment should

never be a reason for a learning disability.
8.3.2Role of Orientation and Mobility

Ocular disease can impose significant restrictions on a childs ability to move about freely
and without hesitation when in an unfamiliar environment. If a child avoids play and motor activities, bumps into objects, stumbles and falls on
steps or curbs, their self-image can be profoundly
affected. The O&M specialist possesses the skills
necessary to train the child to ambulate safely, efficiently, and comfortably in various situations.
Children with visual impairment need to be
oriented, in a sense, understanding where they
are in space with regards to other surrounding
objects so that they can realize purposeful and
safe mobility. Even if the child has only light perception vision, a sense of orientation is essential.
Subsequently, the O&M specialist trains the child
to use their remaining senses to maximize their
success, such as hearing, proprioception, tactual
sensation, and kinesthetic awareness, in addition
to any residual vision.
They also train the child to improve visual
efficiency with and without the monocular telescope for fixating, tracking, scanning, localization, and spotting. This training is critical to develop a foundation of skills that will inevitably
serve them for life. Even infants and preschoolers
can learn sensory skill development, self-initiated purposeful movement, motor development,
and environmental and community awareness.
8.3.3Role of Occupational Therapy

8.3.3.1Counseling Young Drivers
One of the major milestones in an adolescents
life is receiving their drivers license. Driving is
a privilege with substantial risk and associated
liability; therefore, decisions to allow teenagers
with visual impairment to drive should be made
by consensus of the parents, the certified driving
instructor, the occupational therapist (OT) and
the LVR specialist.
The sensory threshold measurements of visual

acuity and visual field diameter dictated by each
states Department of Motor Vehicles (DMV) are
not measures of sustained ability, much less driving performance. Therefore, no young driver with
a visual limitation should be allowed to participate in mainstream drivers education until they
have a comprehensive LVR evaluation and a referral is made for a behind-the-wheel assessment
by a certified driving instructor. Many times, an
OT specializing in drivers training can also be a
valuable player in determination of driving ability, as well as serve as a resource for nonconventional drivers education.
Visual acuity and visual field requirements
vary from state to state. It is important to have
this information available when discussing the
possibility of driving with parents and their visually impaired teenager. As previously mentioned,
many states allow for the use of bioptic telescopes
to enable drivers to spot signs and other objects
more easily. It is critical that drivers be trained on
how to use these devices before they use them
behind-the-wheel since they create restrictions
in field of view and changes in visual perception.
Subsequently, many states have strict training protocols for telescope usage. It is important to note
that the telescope is to be used for spotting purposes only and that the individual should be viewing
through the carrier about 95% of the time while
driving. O&M specialists and OTs are instrumental in training the proper use of telescopic devices
both while ambulating and behind-the-wheel.
Although some states do not have visual field
requirements for driving, numerous studies have
shown that peripheral visual field constriction is
more difficult to compensate for than central vision loss while driving. Furthermore, individuals
with inferior visual field deficits and homonymous visual field loss are more likely to be involved in a motor vehicle accident than drivers
with central defects (Coeckelbergh et al. 2002;
Szlyk et al. 1995, 2005). Many states allow for
vehicle modification such as ancillary external
mirrors to aid the driver with restricted field of
view. In some states, prismatic spectacles may be
worn to allow drivers to detect obstacles in their
nonseeing visual space, as well.
165
Nevertheless, all discussions about driving

should include input from all the reviewers involved in each case. It is important to document
these discussions in the event that the driver is involved in Motor Vehicle Accident (MVA)-related
litigation. Many providers shy away from these
discussions because of the associated medicallegal liability, but driving privileges are a critical
component to personal independence and have a
tremendous impact on future vocational options.
Therefore, each individual case should be reviewed carefully to insure the safety of the young
driver and the public without needlessly limiting
the visually impaired individual.
8.3.3.2Activities of Daily Living

The OT will also be instrumental in teaching the
child how to perform activities of daily living
in the home setting. OTs can come to a childs
home and make recommendations for modifications in the home environment to insure safety
and efficiency. OTs have experience working
with individuals with multiple disabilities and
can address total function as well as the visual
challenges. Many devices are available through
OTs to supplement the visual aids.
8.4Resources for Parents

8.4.1Parental Support Groups
Each child should be referred to the appropriate
agencies for support. Some examples, include,
Social Services for the blind and visually impaired, early intervention programs, and mental
health services, when applicable. However, it is
also important to recognize the frustration and
anxiety of parents of children with visual disabilities and recommend support programs for
them, as well.
The American Foundation for the Blind and
the National Association for Parents of Children with Visual Impairments created www.
familyconnect.org to offer tips on raising a child
with visual impairment throughout every age/
stage and provide a place for parents to support
each other and share stories and concerns.
166
The North Carolina Association for Parents

of Children with Visual Impairments (NC-APVI) is a nonprofit organization of parents for parents that provides parent education, networking,
emotional support, initiates outreach programs,
and advocates for the blind or visually impaired
regarding their educational needs and overall
welfare. The local state chapter can be found online at www.napvi.org. Topics of discussion include public awareness, family acceptance, discipline issues, and coping strategies.
8.4.2Schools for the Blind

State-funded schools for the blind provide community-based early intervention services for the
visually impaired starting from birth up to 5-yearsold. Their Outreach Programs strive to ensure that
no child with visual impairment slips through the
cracks of the system. Children with vision loss
can learn independent living skills and ADL strategies through these academic-based institutions.
Schools focus on teaching living skills needed
by the visually impaired, i.e., assistive technology, orientation and mobility, career exploration,
independent living skills, low-vision devices, and
instruction in Braille/Nemeth codes. They also
cover the same academic curricula as the public
schools; but in a unique environment.
The length of time a student stays at a blind
school depends on the vision-specific goals dictated in their IEP and how quickly (or not) the
child meets those goals. The IEP is reviewed at
least annually to decide if continued placement
is necessary. There really is no average length
of stay; however, most children usually stay between 2 and 3 years.
8.4.3Psychosocial Considerations
8.4.3.1Device Compliance
Of particular importance is aesthetics when
considering which aides to prescribe, since the
childs peers will inevitably affect acceptance of
the aide. In essence, there must be an undeniable
need for the recommended aid and the ability
to efficiently manipulate it. The more mainstream the device appears, the more likely
the child will accept it. Hence, the evolution of
smaller, portable electronic magnifiers will offer
more acceptable options to children with visual
challenges.
8.4.3.2Adjustment to Loss
Grief is the normal response to real or perceived
loss. However, when a child or their parents seem
to demonstrate persistent difficulty adjusting to
the vision loss, professional evaluation and counseling by a social worker or clinical psychologist
may be indicated. For children demonstrating
signs of clinical depression, a referral to child
psychiatrist is warranted. Pediatric depression
scales, such as the Childrens Depression Inventory (CDI), can be administered to screen for potential depressive symptoms in children as young
as 7 years of age.
8.5Conclusion
Given that more children are now surviving infancy with inherited or congenital visual disorders, and considering the importance of reading
in education, the demand for LVR interventions
for those children in need is increasing.
Early intervention, usually at the time of diagnosis of ocular disease, is necessary to prevent
needless frustration and anxiety for the child and
their parents about their prognosis for continued
visual functioning, no matter the level. As mentioned previously, early intervention usually creates early acceptance of both the disability and
the devices that improve function. Healthcare
workers may incorrectly assume that the child
has already been referred for vision rehabilitation services by the childs eye-care provider, but
this may not always be the case. Therefore, it is
important for all healthcare providers who work
with children to be aware of LVR resources available in their area.
LVR is a multidisciplinary intervention. LVR
professionals must rely on the expertise of each
support team member to provide the maximum
benefit to the child. All of a childs healthcare
providers should play a collaborative and supportive role during a childs developmental years
to insure each one meets their unique and optimal potential so that they may grow into wellrounded, fully functional adults who are able to
participate in and contribute to society in a meaningful way.
References
Bistrian, B. R. (2003). Clinical aspects of essential fatty
acid metabolism: Jonathan Rhoads Lecture. Journal
of Parenteral and Enteral Nutrition, 27(3), 168175.
Brennan, V., Ryu, F., & Lolli, D. (1992). Enhancing
the use of functional vision. In: Perkins activity and
resource guide: A handbook for teachers and parents of students with visual and multiple disabilities
(Vol.2, Chap.17, pp.1745). Urbana: Perkins School
for the Blind, University of Illinois.
Coeckelbergh, T. R., Brouwer, W. H., Cornelissen, F. W.,
Van Wolffelaar, P., & Kooijman, A. C. (2002). The
effect of visual field defects on driving performance:
A driving simulator study. Archives of Ophthalmology,
120, 15091516.
Cowan, C., & Shelper, R. (1990). Techniques for teaching young children to use low vision devices. Visual
Impairment, 84, 419421.
Gilbert, C. E., & Foster, A. (2001). Childhood blindness
in the context of Vision 2020The right to sight. Bulletin of the World Health Organization, 79, 227232.
Gnadt, G., & Wesson, M. D. (1992). A survey of the
vision assessment of the developmentally delayed and
multi-handicapped in university affiliated programs
(UAPs). Journal of the American Optometric Association, 63, 619625.
167
Halton, D. (2001). Model registry of early childhood

visual impairment: First year results. Journal of Visual
Impairment & Blindness, 95(7), 418433.
Kahn, H. A., Leibowitz, H. M., Ganley, J. P., Kini, M. M.,
Colton, T., Nickerson, R. S., & Dawber, T. R. (1977).
The Framingham Eye Study. I. Outline and major
prevalence findings. American Journal of Epidemiology, 106(1), 1732.
Kaye, H. S. (2002). Activity limitation in the National
Health Interview Survey: Effect of the 1997 revision
on measuring disability (Disability Statistics Working
Paper No. 0201). San Francisco: University of California, San Francisco.
Koenig, A. J., & Holbrook, M. C. (1991). Determining
the reading medium for visually impaired students via
diagnostic teaching. Journal of Visual Impairment &
Blindness, 85(2), 6168.
Ritchie, J. P., Sonsken, P. M., & Gould, E. (1989). Low
vision aids for preschool children. Developmental
Medicine and Child Neurology, 4, 509519.
Steinkuller, P. G., Du, L., Gilbert, C., Foster, A., Collins,
M. L., & Coats, D. K. (1999). Childhood blindness.
Journal of American Association for Pediatric Ophthalmology and Strabismus, 3, 260332.
Szlyk, J. P., Pizzimenti, C. E., Fishman, G. A., Kelsch,
R., Wetzel, L. C., Kagan, S., Ho, K. (1995). A Comparison of driving in older subjects with and without
age-related macular degeneration. Archives of Ophthalmology, 113, 1033.
Szlyk, J. P., Maher, C. L., Seiple, W., Edward, D. P., &
Wilensky, J. T. (2005). Driving performance of glaucoma patients with peripheral visual field loss. Glaucoma, 14(2), 145150.
Thylefors, B., Negrel, A. D., Parajasegaram, R., & Dadzie,
K. Y. (1995). Global data on blindness. Bulletin of the
World Health Organization, 73(Pt1), 115121.
Whittaker, S. G., Budd, J., & Cummings, R. W. (1988).
Eccentric fixation with macular scotoma. Investigative
Ophthalmology & Visual Science, 29, 268278.
Oral Health Access Issues

for Children with Special Health
Care Needs
Nancy J. Murray and Mary Anderson Hartley
Abstract
Maintaining good oral health is crucial for all children; all require consistent age-appropriate daily care. Most children with special health care
needs have the same dental routines and can see the same dentists as their
typical peers. Untreated dental conditions in children with special health
care needs and particularly those with disabilities and significant health
conditions can result in very serious behavioral and medical results. Due
to higher medication usage, the physical characteristics associated with
many disabilities, and the comorbidities that contribute to compromised
health status, these children have an increased need for consistent and high
quality dental care. This population suffers from reduced capabilities for
daily hygiene, reduced number of professionals accepting them or their
insurance, and less didactic and clinical training for dental professionals
to make them more comfortable and competent with treating individuals
with disabilities. Many advocates are working diligently on multiple strategies to solve the access issue for those children with special health care
needs who are most at risk.
Abbreviations
AADMDAmerican Academy of Developmental Medicine and Dentistry

AAPD American Academy of Pediatric Dentistry
ACA Affordable Care Act
ADA American Dental Association
ADA Americans with Disabilities Act
AHRQ Agency for Healthcare Research and Quality
CDC United States Centers for Disease Control and Prevention
N. J. Murray () M. A. Hartley
ACHIEVA, 711 Bingham Street, Pittsburgh, PA 15203, USA
e-mail: nmurray@Achieva.info
M. A. Hartley
e-mail: mhartley@Achieva.info
169
170
CHDIR CDC Child Health Disparities

and Inequalities Report
CHIP Childrens Health Insurance
Program
CMS United States Center for Medicaid Services
CODA Commission on Dental Accreditation
COPD Chronic Obstructive Pulmonary Disease/Disorder
CSHCN Children with Special Health
Care Needs
DDS Doctor of Dental Sciences
DHPSA Dental Health Professions
Shortage Areas
EPSDT Early and Periodic Screening,
Diagnosis, and Treatment
GAO United States Government Accountability Office
HHS United States Department of
Health and Human Services
HRSA United States Health Resources
Services Administration
IV Intravenous
MD Medical Doctor
MPH Master of Public Health academic degree
MUP Medically Underserved Population
NADP National Association of Dental
Plans
NIDCR National Institute of Dental and
Craniofacial Research
NYSOPDD New York State Office on Persons with Developmental Disabilities
SCDA Special Care Dentistry Association
9.1Introduction
As we embrace the new century, the leaders, lawmakers, healthcare providers and citizens of this
country are wondering and worrying about the
future of health. How do weas a compassionate,
caring, great nationprovide access to quality
care for all Americans? Not simply those who are
the easiest to treat. Everyone.
N. J. Murray and M. A. Hartley

It is a sad fact that many dental professionals
have shied away from treating patients with special
needs. Too often, patients with disabilities have
been perceived as someone elses problem. But
someone else wasnt offering solutions either.
We want every citizen with special needs to have
quality oral healthcare. Every time we help one
person gain access to the care he or she needs and
deserves, we are saying, you matterto us and to
our country. Every time we forge a new partnership, share our ideas, volunteer or educate ourselves, we are making a difference. I believe that if
we truly work together, we can achieve our health
care goals.
Eunice Kennedy Shriver
Children with Special Health Care Needs

(CSHCN) are defined as those who have or
are at increased risk for a chronic physical, developmental, behavioral, or emotional condition
and who also require health and related services
of a type or amount beyond that required by children generally (McPherson etal. 1998, p.138).
Children with asthma fall into this category along
with children with disabilities such as Down syndrome, cerebral palsy, spina bifida, autism, seizure disorder and other developmental, physical,
and behavioral conditions. These are children
who continue to experience challenges into adolescence and adulthood. Certainly, the children
with more severe medical conditions or more
functional limitations are most at risk for not receiving regular dental care. The majority of these
children, however, should be able to see a community dentist with little modification. Surprisingly, many families are still finding it difficult to
access a dentist who will see their child.
Maintaining good oral health is crucial for all
children; all require consistent age-appropriate
daily care. Most children with special health care
needs have the same dental routines as their typical peers. However, children without disabilities
are generally better able to participate in their
own dental care as they do not have cognitive,
sensory, and/or physical limitations. CSHCN
may have greater dental or gum disease due to
a chronic medical condition, intellectual delay,
physical limitations, or behavioral challenges
that limit their ability to care for their teeth and
gums and cooperate in the dental office. In addition, some children with disabilities have genetic
conditions that specifically and negatively affect
9 Oral Health Access Issues for Children with Special Health Care Needs
the teeth and gums. Many take medications that

adversely affect their oral health. For example,
some medications are high in sugar and some can
reduce the flow of saliva.
Untreated dental conditions in children with
special health care needs and particularly those
with disabilities and significant health conditions can result in very serious behavioral and
medical issues. Due to higher medication usage,
physical characteristics associated with many
disabilities, and comorbidities that contribute to
compromised health status, these children have
an increased need for consistent and high quality
dental care. Professional journals are replete with
studies about the connection between oral health
and physical health for healthy patients; these
connections have far more serious ramifications
for children with more limitations. Their barriers
to care are extraordinary. This population suffers
from reduced capabilities for daily hygiene, reduced number of professionals accepting them
or their insurance, and less didactic and clinical
training for dental professionals to make them
more comfortable and competent with treating
individuals with disabilities.
While a minority of people with disabilities
may require intensive clinical care, dentists who
treat this population estimate that approximately
75% of people with disabilities can be seen in a
typical dental office with modest physical and
behavioral support (Elwyn 2006). We know that
even children who could be seen in a typical
dentists office are often unable to access those
community providers because most dentists (varies state to state, generally 75%) are unwilling to
accept Medicaid (they do not feel there is sufficient reimbursement); because it may take more
time (i.e., cost) to work with a patient with physical, cognitive, or behavioral limitations; because
dentists are concerned about liability; or because
dentists feel they lack appropriate training (in a
2004 study, 68% of students reported less than
5h didactic training; Wolff etal. 2004) or are uncomfortable working with these patients.
If families who rely on Medicaid are able to
find a dentist for their children, they have trouble finding additional support such as IV sedation or specialists (orthodontists, periodontists,
171
and endodontists). Families living in rural areas

are likely to be traveling long distances for even
basic care. For many families who are supporting
a child with a disability, there generally isnt a lot
of money for out-of-pocket expenses and medical needs not covered by Medicaid.
Several significant events have culminated in
a national discussion about oral health care in the
last ten years. Oral Health in America: A Report
of the Surgeon General was published in 2000
by then Surgeon General David Satcher who
noted (p.2), You cannot be healthy without oral
health. Oral health and general health should not
be interpreted as separate entities. He further
stated (Satcher 2000, p.79):
Those with disabilities and complex health conditions have limitations in individual understanding
of and physical ability to perform personal prevention practices or to obtain needed services. There
is a wide range of caries rates among people with
disabilities, but overall their rates are higher than
those of people without disabilities.
In fact, there is a fast growing body of evidence

that links poor oral health with increased risks
for systemic conditions such as heart disease,
diabetes, and aspiration associated with Chronic Obstructive Pulmonary Disorder (COPD). A
September 2005 article in the journal Pediatrics
documented that dental care represents a significant unmet health care need of children with special health care needsthat dental care was more
difficult to access than any other health services
(Lewis et al. 2005). The same Pediatrics study
found that more severe levels of disability increased the odds of unmet care. Given that dental
services are mandated for children under Medicaid regulations, but classified as optional for
adults, it is virtually a certainty that these levels
of unmet needs persist, and most likely worsen,
into adulthood.
In a National Council on Disability report to
President Obama and Congress in September
2009, it was stated (National Council on Disability 2009; citing Nehring 2005, pp.159, 167):
While most people who live in community-based
residential settings or with friends or family had
access to dentists, they had poor dental health
because of lack of preventive care and inadequate
172
dental hygiene. Access to care can also pose significant problems. Case managers have indicated that
dental services are more difficult to find than any
other type of service for individuals with intellectual and developmental disabilities who live in the
community. Families and support personnel also
indicate that quality of care is lower than it should
be, because dentists lack the skills required to work
or communicate with people with intellectual and
developmental disabilities.
Inclusion is the key for people with disabilities. While there have been specific clinics to
take care of individuals where no such services
exist, these should be stop-gap measures only.
The coauthors of this chapter believe that people
with disabilities have the right to receive their
dental care in the community in which they live.
9.2 Barriers to Dental Care

9.2.1 Insurance
Certainly a major barrier to access dental care
is lack of dental insurance. However, for children with special health considerations and disabilities, simply having insurance may not be the
solution to access. Even for those children with
excellent commercial dental plans, the covered
services and reimbursements vary greatly. Many
of these plans do not cover the added time, expertise, and sometimes extra staff it may take
to provide service to CSHCN. Insurance often
does not cover the cost of anesthesia for young
children. The maximum annual benefit for many
dental plans is US$1,0001,200 (National Association of Dental Plans 2010), which will likely
not cover anesthesia, operating rooms, and other
hospital expenses.
Through the Childrens Health Insurance
Program (CHIP) Reauthorization Act of 2009
(H.R. 2), the states are now required to cover
dental services for children who qualify. States
can also elect to provide CHIP for dental care if
the family has existing medical insurance with no
dental coverage. These programs are intended to
ensure that the neediest families will be able to
secure dental care for their children. Section 501
of the Act states: IN GENERALThe child
health assistance provided to a targeted low-in-
come child shall include coverage of dental services necessary to prevent disease and promote
oral health, restore oral structures to health and
function, and treat emergency conditions. (United States Congress 2009, p.78)
Children with special health care needs may
be covered by their parents private insurance
and/or Medicaid. Depending on the limitations
of their disability, some of these children receive both Medicaid and Medicare. For CSHCN,
Medicaid is often used as a secondary insurance
covering a myriad of services, including dental.
As noted above, however, families who meet the
criteria based on the poverty model and persons
with disabilities who use Medicaid as their primary insurance, have long had problems finding
dental providers willing to treat them.
9.2.2 Finding a Medicaid Provider

In September 2007, Katherine M. Iritani, Acting
Director of Healthcare, United States Government
Accountability Office stated (GAO 2009a, p.1):
Children in Medicaid were almost twice as likely
to have untreated cavities as children with private
insurance and that the percentage of children in
Medicaid who received any dental care was far
below the Department of Health and Human Services (HHS) target for low-income children.
For children seeking dental services, most

states reported that finding a provider that accepts Medicaid is a moderate or major barrier.
Comparatively fewer states reported that obtaining transportation to and from the providers office or the ability of parents to take time off work
are moderate or major barriers for children seeking dental care. For providers, most states also
reported that beneficiaries not showing up for appointments and a limited capacity to accept new
patients (reported by 45 and 30 states, respectively, out of 51 states, including Washington D.C.)
are moderate to major barriers. (GAO 2009b)
In 2007, The Washington Post, reported on the
death of Deamonte Driver, a 12-year-old from
Maryland whose family couldnt find a Medicaid dentist to treat him for an abscess that spread
to his brain. The cost for a routine extraction for
Deamonte would have been US$80. As it turned

out, this untreated dental infection cost the life
of a young boy and resulted in US$250,000 in
medical bills (Otto 2007).
Our recent national struggle with economic
recession and high unemployment has led to an
increase in the number of Medicaid beneficiaries. Medicaid-funded services for children have
been strengthened through federally mandated
services such as Early and Periodic Screening,
Diagnostic and Treatment (EPSDT), yet several
states are cutting services to adult Medicaid beneficiaries and most significantly to adults with
developmental disabilities. In 2009, the Grand
Rapids Press, reported that a Northern Michigan
woman with an intellectual disability died as a
direct result of cuts to adult Medicaid services
(King 2009). At this writing, five states have
significantly cut Medicaid dental benefits for
adultsincluding people with disabilities.
9.2.3Medicaid EPSDT Dental Services

from CMS
Dental services under the federal Medicaid program cover children with disabilities up to age
21 as part of Early Periodic Screening, Diagnosis, and Treatment (EPSDT; CMS 2010). From
this age cutoff point plus the data in Table 9.1
(GAO 2009b), it is apparent why both children
and adults with disabilities, especially those who
use Medicaid, have difficulty accessing dental
services. Dentists cite low reimbursement, lack
of education, missed appointments, and liability
risk as the primary reasons why they refuse to
treat individuals with disabilities. For children
under age 21, EPSDT mandates treatment; however, when those same children turn 18 or 21,
access to care becomes significantly more difficult. Some pediatric dentists (those who have
traditionally treated people with disabilities) may
not be willing to continue care for individuals as
they become adults.
Whereas, the picture is rosier for children,
as children with disabilities transition to adulthood, they will overwhelmingly face challenges
finding a provider who will provide treatment.
In addition, most people with disabilities rely
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Table 9.1 Barriers that hinder state initiatives to

improve access to Medicaid Dental Services. (Source:
GAO (Survey of state Medicaid directors conducted
between December 2008 and January 2009))
Barriers that hinder state initiatives
States
Responding (total
51 states)
44
40
38
31
13
Lack of available funding

Lack of provider participation
Lack of beneficiary participation
Administrative burden on providers
Difficulty coordinating with other state
agencies
Lack of CMS approval for state initiatives 5
Other barriersa
6
Note: States could select more than one barrier and may
be counted in more than one category
a States reported other barriers, including staffing shortages that limit the agencies ability to take on additional
projects and cultural competency barriers, such as translating oral health information into other languages
on Medicaid as their primary health insurance.

Combined with the challenges of accessing care,
most adults with disabilities are unemployed or
underemployed. In general, it can be very difficult to look outside of Medicaid and pay out-ofpocket for this critical health service.
The federal government is starting to collect
data which will indicate where the breakdown
occurs that limit dental access for people with
disabilities (National Center for Health Statistics
2007). There is a significant effort from federal
data collection systems to ensure that standard
definitions and survey questions are included on
disability. The Patient Protection and Affordable
Care Act 2010, states that data and quality measures will be collected regarding individuals with
disabilities and in December 2010, the US Department of Health and Human Services released
the Healthy People 2020 objectives. New to the
objectives was DSC HP20202014 Reduce the
proportion of people with disabilities reporting
delays in receiving primary and periodic preventive care due to specific barriers. More recently,
the CDC released a report which identified only
8 of the 22 topics include health disparities by
disability status in its CDC Health Disparities
and Inequalities Report (CHDIR). Federal interagency working groups are discussing strategies
174
for expanding the collection of data by disability

status (CDC 2011).
In 2010, the Agency for Healthcare Research
and Quality (AHRQ), released their report on
national healthcare disparities which included
dental data. AHRQ found that persons with basic
activity limitations were significantly more likely
than persons without disabilities to report being
unable to get or delayed in getting needed dental
care (11.3% compared with 6.4%; AHRQ 2009)
In her article, Dental Care and Children
with Special Health Care Needs: A PopulationBased Perspective, Charlotte W. Lewis, MD,
MPH, found that dental care was the most prevalent unmet health care service for children with
special health care needs, that just over 80% of
CSHCN reported that they needed preventative
dental care and almost 9% of CSHCN were not
able to receive any dental care (Lewis 2009).
Lewis highlights the fact that children with
more significant disabilities are more likely to
have difficulty getting care: this includes children with intellectual disabilities such as Down
syndrome, children with autism, cerebral palsy
and others, even if their families have the financial resources to obtain care. She discusses the
possibility of this difference in the availability of
hospital-based resources for dentistry and suggests that additional research needs to be done to
specifically address the needs of children who are
significantly affected (Lewis 2009).
Children with Down syndrome may be turned
away at the dental office. On its website, the
National Institute of Dental and Craniofacial
Research (NIDCR, www.nidcr.nih.gov), advises
dentists that most children with disabilities can
be treated in contemporary dental environments,
in some cases requiring minor accessibility and
changes in dental treatment techniques.
Other studies confirm that children with cerebral palsy have the most difficulty finding practitioners who will see them, with one stating that
approximately 70% of dentists rarely or never
saw children with cerebral palsy (Casamassimo
etal. 2004). Lewis (2009) found that dental accessibility depended upon severity of disability,
with the highest unmet needs being reported for
children with Down syndrome.
9.2.4ProvidersThe Dentist Shortage

Other, more global challenges put children with
disabilities at risk. There is a looming dental
shortage in the United States. There are large disparities in the distribution of dental practices between urban and rural areas, and more than onethird of all practicing dentists were over the age
of 55 and edging toward retirement (Pew 2010).
Even worse, pediatric dentists (those traditionally trained to serve both children and adults
with disabilities) are a small portion of the total
dentist population. The projected shortage is not
due to the number of willing applicants to dental schools, far more troubling is a lack of faculty to instruct and train them. According to the
American Dental Education Association, there
are approximately 350 vacant faculty positions in
existing dental schools. The problem is created
primarily by most dentists desire to pursue lucrative careers in private practice (McKinnon etal.
2007).
9.2.5Rural Areas
As mentioned above, a central challenge for
patients with special needs is location. Newly
trained dentists are not moving into rural areas.
They generally choose highly populated urban
and suburban regions where they can develop a
robust practice. Dentists practicing in rural areas
likely have ties to those areas or are attracted to
service in these communities by loan repayment
programs funded through state and federal programs such as the National Health Service Corps.
Many dentists who are seeking more lucrative offers of loan repayment may consider the armed
services instead of these programs.
Because most dental professionals seek urban
centers, the nation has approximately 4,230 Dental Health Professional Shortage areas (DHPSAs). DHPSAs are defined by the federal Health
Resources and Services Administration (HRSA)
as a population of 3,000 patients to one dentist
(HRSA 2009). Although urban areas can also
be designated as DHPSAs, generally the higher
numbers in each state are in the most remote
areas with few city centers. If you consider that

most dentists do not take Medicaid patients and
likely will not see children with disabilities, these
ratios are likely to be even higher for persons
with disabilities trying to access care.
For families living in rural areas, this translates into traveling long distances to find a dental provider. Many will travel 6 hours or more
roundtrip to find appropriate treatment for their
child. Based on anecdotes from parents and caregivers, for a child who is in pain or needs significant treatment, who has difficulty traveling,
or who must rely on Medicaid-funded transportation or buses, traveling for treatment can range
from difficult to impossible.
Developing new avenues of access for individuals with disabilities in rural areas has and can be
supported by Federally Qualified Health Centers
or Community Health Centers that provide accessible dental services. Mobile units are often discussed as a solution for rural areasensuring true
accessibility and inclusion should be part of that
planning. Loan repayment models that encourage
dentists to treat children and adults with disabilities in rural areas could be initiated. New providers: expanded function dental hygienists (EFDH),
dental therapists, expanded function dental assistants, and advanced dental hygiene practitioners
are being piloted and deployed in rural areas.
There needs to be more discussion of how best
these providers can or should support persons with
disabilities as they work with rural communities.
9.2.6Other Issues
Other reasons often cited as to why dentists refuse to treat Medicaid patients are missed appointments which represent loss of revenue and
time. Unfortunately, parents who rely on Medicaid may have significant challenges with public
transportation or child care. Adults with disabilities may also have significant transportation barriers; they may also need support to remember
appointments and/or manage the sensory experiences of dental treatments. Finally, families
of children with disabilities tend to have lower
income than other families. Even if they are twoparent households, oftentimes one parent can
175
work, while the other parent has the full-job of

managing the childs medical, educational, insurance, coordination, and advocacy needs. Few
families have extra money for out-of-pocket expenses and medical needs not covered by Medicaid.
9.3What the Law Says: The Other

ADA
The American Dental Association (ADA) is a
professional association of dentists. The organization provides advocacy, education, and research regarding oral health. The Americans with
Disabilities Act (ADA) , which became law in
1990, established the prohibition of discrimination based on disability. Both use the acronym
ADA.
Dentists, as medical providers, may not recognize their responsibilities under the ADA and
families may not understand their rights. Private
hospitals or medical offices are covered by Title
III of the ADA as places of public accommodation. Public hospitals and clinics and medical
offices operated by state and local governments
are covered by Title II of the ADA as public programs. Persons with disabilities must receive
full and equal access to their health care services and facilities; and reasonable modifications to
policies, practices, and procedures when necessary (U.S. Department of Justice, Civil Rights
Division 2010)
In theory, a dentist cannot refuse to treat a patient who has a disability because the examination will take more time. ADA protections also
require that staff should be properly trained in
wheelchair transfer or the office should provide
lift/transfer equipment and/or an accessible lift
or chair. The dentist must provide reasonable accommodations at their cost (not the families) for
a patient who needs accessible communications
support such as an American Sign Language
(ASL) interpreter, large print, or recorded information. Dentists are also responsible for ensuring that persons with limited English proficiency
are supported with a translator. When these accommodations are offered as a working part of
the everyday dental office, often typical patients
176
enjoy the universal benefits, making everyone

feel more welcome.
Some additional protections for patients with
disabilities were included in the Patient Protection and Affordable Care Act , familiarly known
as the Health Care Reform bill of 2010. The US
Access Board, a federal agency charged with
working on accessible design, in consultation
with the Food and Drug Administration, is developing standards of medical diagnostic equipment
for patients with disabilities. Dental equipment is
included in the proposed standards which are to
be developed by March of 2012.
9.4Family Perspective
9.4.1Why Dental Care is Last
on the List
When one considers the constant vigilance that
parents of children devote to their childs medical, educational, and social needs, is it any wonder that oral health care often is not at the top of
their to do list? Many families of children with
disabilities become too emotionally and/or financially stressed to devote time and attention to oral
health. These personal stories describe a day in
the life of families of children with significant
challenges and express why dental care, while
important, is often the last thing on the list.
9.4.2Mothers Perspectives
Arlene Title is the mother of Seth who has cerebral palsy, microcephaly, and severe intellectual
disability. She states (Title, personal communication):
Morning care is in a hospital bedhe sits upright
while were preparing breakfast. We feed him
oatmeal and coffee, he likes his morning coffee.
He takes two pills and seizure medications in the
morning. We get his diaper changedsometimes
hes cooperating, sometimes not. Next is brushing
teeth: we preferred the battery operated toothbrush
until he bit the head off the toothbrush and was
choking on it. He usually doesnt want his teeth
brushed, hes clenching his mouth shut, you have
to watch his hands so he doesnt hit it out and
his head is always movingits physical (as his

dentist used to say when he was little) if he knew
Seth was coming in, he wouldnt have to go to
the gym because he got his work out cleaning his
teethwe all do. One person can put him into a
wheelchair, usually. Getting him into bed it does
take twoalways better. He takes two medications
in the afternoon, one pill and seizure medication.
His aide may come and take him out during the
day, amusement park or the pool (when he is at
the pool there have to be four adults there). Everything with Seth is physical because hes not able
to help himself in any wayhes complete care.
For lunch, he eats soft textured foodswhen hes
out its a protein liquid supplement. A lot of times
you cant change diapers until you get him back
to the car, because he doesnt stand and you cant
lay him on the floor. Taking him shopping can be
an adventure he can destroy a store in a blink, he
can clear an entire rack of clothes, take out a shelf
of deodorant, candy aisles, you just dont know.
Now that hes blind hes not reaching and grabbing
as when he had his vision. After work, we come
home at nightthere is usually an aide until early
evening and then its usually just us getting him
prepared for bed, snack with meds, brush teeth,
changing the diaper, change clothes. Into bed. He
sleeps elevated, cant be laid flat. He can sleep
well. You know somethings not right when hes
up. The meds helpbecause when he was younger
he used to not. The first three years of his life, he
didnt sleephed cry 1518 h out of the day. I
never slept. If you slept a night it was five hours
and they werent consecutive and we had two other
kids. His teethhe still has baby teeth and a lot of
overlap, they had to pull layers of teeth. He doesnt
chew and swallow very well and now he aspirates.
Joy McDaniel (2010), mother of JJ, who has

severe, non-verbal, highly aggressive autism and
Angel, who is higher functioning but who also
has a diagnosis of autism, states (McDaniel, personal communication):
Depends on what time JJ wakes up, sometimes
3 a.m., sometimes 6, it also depends on mood when
he wakes upif he wakes up tantrumming, I run
around and close the windows so he doesnt disturb
the neighbors. Since he is non-verbal, he makes a
lot of noises, happy, sad, angry, and always very
loud. Both children are independent with toileting, [but] JJ was not independent with this skill
until age 11. Immediately, he asks for his array
of thingshis food hes always eating (not food
at 3 a.m.). Angel wakes herself up with her alarm
clock, she comes downstairs, but not a morning
person. If JJs still asleep, shell come and cuddle
with me and well have our time. Then she gets
her coffee, her breakfast bar and her daily vitamin.
She dresses herself to get ready for school. She
brushes her teeth. JJ hell eat hotdogs or chicken
with applesauce for breakfast and then every-
thing depends on his moodsometimes hell sit
and [watch] PBS childrens programs quietly or if
its 3 a.m., hes asking to go somewhereschool,
Grandmas, somewhere in the car (he has no concept of time). Brushing teeth for JJhe will allow
the toothbrush to go into his mouth, but only to his
molars, he bites downtheres no actual brushing.
So what Ive done to supplement brushing. I will
give him a wet washcloth to chew on, but while
hes doing that, Ill use parts of the washcloth to
brush his teeth and he bites me a lot. When Angels
bus picks her up at 6:30 a.m., JJ perseverates over
getting ready for school, because he doesnt know
that hes not getting picked up for another hour
and a half, so that can consist of him sitting quietly or repetitively signing, school, please. One
hour before, I have a visual timer I set for him and
95% of the time, hell still sign for school for that
hour. At 8 a.m., JJ gets on a school bus and goes to
school. In order to get him readythings have to
be done in an order. His book bag cant come out
and his harness, that he needs for safety on the bus,
until the school bus honks its horn, because if the
bus were to be late, it would be a highly aggressive tantrum. When the bus aide isnt there, I have
to send the bus away, which has resulted in 6 h
non-stop tantrums. Thats the morning. We have
to hold him downat the hospital recently, to get
his school shots, a male adult and I, using a sneak
attack. On a recent trip to the ER at Childrens
Hospital, the doctors and nurses were so scared;
the attending doctors didnt know what they could
do because of his autismnot his injury, that they
had to call in the Chief of the ER.
Given the challenges of caring for their children day after day, week after week, year after
year, it is little wonder that even highly engaged
and motivated parents such as Arlene and Joy
find it difficult to arrange and facilitate appropriate dental care for their children.
9.4.3Medical Anomalies, Medications,

and Sensory Challenges
In many respects, children with special health
care needs are just like their typical peers. However, there are specific dental and gum conditions
for some CSHCN which are not common. In addition to intellectual, behavioral, and/ or mobility disabilities, some children may have neuromuscular reactions that can cause resistance to
opening the mouth or keeping the mouth open
most of the time. CSHCN may have excessive
drooling or dry mouth. There may be uncon-
177
trolled body movement; problems with gastric

reflux and gagging problems or seizures. Problems managing sensory experiences may also
play a role, particularly for children on the autism
spectrum. Diet is definitely a factor in oral health
when children are not fed by mouth, but by Gtube or G-J tube. Some CSHCN may excessively gnash or grind their teeth. They may have a
condition known as pica (in which the child eats
nonfood items such as wall paste, glue, or dirt).
Children with disabilities may also pocket their
food in their cheeks.
Providing daily oral health care to children
with these conditions can be especially challenging. When visiting the dentist, it is extremely
helpful for the staff to share some tips when working with children with different needs. There are
supportive devices such as mouth props, unique
toothbrushes, flossing aids, and even home modifications using bicycle handles and tennis balls
that can serve as alternative methods to classic
tooth brushing.
The parents are strongly encouraged to discuss
the childs diet with the dentist, as well as any
other unusual concerns on the health of the mouth
and teeth. The NIDCR (through the National Institutes of Health, NIH) provides free information to all families, caregivers, and professionals
through their website, as well as printed materials
that may support these specific needs and answer
questions. Parents may find it helpful to identify
some of these materials and work with a dentist to
identify the supports that work best for their child.
Most children with disabilities will likely be
able to operate their own toothbrush. Children
will develop more ability with repetition. For
children with more significant disabilities, it is
recommended that they try, or at least participate, in their own care in some way. Once the
child has started, then it is important for caregivers to finish oral care to ensure thoroughness. For
those with the most complex care needs, dentists
recommend doing at least a quadrant to one half
of the mouth at a time, alternating sections daily.
Daily oral care is the most important aspect
of care overall. Even if a child visits a dentist
for cleanings twice a year, home care represents
363 days of the year. Especially if children have
a compromised health status, making sure that
178
the teeth and gums have had two adequate cleanings a day is essential to their overall health. For
children, getting accustomed to the sensation of
the toothbrush and floss, or feeling the buzz of
an electric toothbrush, may also prepare them for
visits to the dentist.
9.4.4A Word About Desensitization

Most pediatric dentists offices are well aware
of the desensitization needs of children and particularly children with disabilities. It is good to
remember we all feel some trepidation, in even
the most comforting dentists hands. For children
and adults with disabilities, fear may be paramount. In order to assure successful treatment,
there may need to be several trips to the dentist
office in advance so that children may sit and
watch a parent or peer experience a dental visit,
or perhaps try out sitting in the dental chair.
Some children may only be able to sit in the
chair and then next visit graduate to having sunglasses on with the bright light. Best practice for
pediatric dental offices is to use tell, show, do
and never surprise their patients. Skilled practitioners are also positive in their approach and
create opportunities for the child or adult to stop
when possible. With some control over stopping
and starting, the child can be partly in charge of
the visit and the dentist can reward the child for
his or her ability to successfully complete some
part of the exam.
While this process can seem repetitive and
frustrating for some dentists and caregivers, the
trust built is paramount to the future success of
this childs lifetime experience with the dentist.
Ultimately, a childs success in tolerating routine
dental care will lower the likelihood of more extensive care and limit the risks presented by sedation and medical immobilization or restraint.
9.4.5A Word About Restraint

To provide appropriate care, dentists must work
near a patients airway and use sharp implements.
Because there are physical risks to this and they
are concerned about safety or because the person may not be able to be sedated due to the use
of current medications or fragile health status, a
dentist may propose restraining a patient. Other
terms for restraint include medical immobilization and/or protective stabilization.
Parents should be aware that medical immobilization protective stabilization may be recommended by their dentist and that they should advocate for their children and work with the dentist
to find the best solution for their child. Dentists,
particularly pediatric dentists, are often trained
in this methodology for patients who need to be
safely treated in the dental chair.
Parents should be aware that there are alternatives to restraint and that the least restrictive environment must be supported at all times. Both
the dentist and family share the goal of avoiding
trauma for the child so that he or she will be able
to successfully visit a dentist again.
The New York State Office for People with
Developmental Disabilities Task Force on Special Dentistry has produced a series of excellent
training modules on special care dentistry, including one on legal and ethical issues. It stresses the
critical need for informed consent and particularly specific consent, especially for restraint and
exceptions in the case of emergency treatment
(Romer and NYSOPWDD 2009). This online
training resource also stresses that while there
is much literature on this topic in the behavioral
health field, law enforcement, and in long-term
care facilities, there is not comparable information regarding persons with developmental disabilities. Informed consent and a proper protocol
are paramount to ensuring that the rights and dignity of the individual are not compromised and
the person does not resist future treatment.
Several methods of behavior support are discussed in the American Academy of Pediatric
Dentistrys 2008 revision of their Guidelines on
Behavior Guidance for the Pediatric Dental Patient, which establishes thorough assessment of
the dental patient and explicitly warns of consequences, stressing that the dentist involve parents
in the discussion, obtain informed consent, and
evaluate each case, so the dentist uses the least
restrictive version of this methodology (AAPD

2008).
Families of children with extreme aversion to
dental care, or those who have never been to the
dentist, can work toward successful visits using
supports advocated by Practice Without Pressure, a Delaware organization. Practice Without Pressure works with patients to experience
the dental visit before it happens (practicing, not
de-sensitization). This can help the patient participate in the visit for a more successful experience.
Children with significant involuntary movement or those who may not be able to receive anesthesia due to medicine usage should work with
a highly qualified dentist to ensure that if some
immobilization is to be used, it is done in the
most positive way. Ideally, this includes opportunities for communication from the patient at any
time. In effect, the goal for the patient is to agree
to the care.
Additionally, family members should be
aware that they can and should be able to stay
with their child during the dental visit. Most dentists should permit this. If this is not allowed, the
parents should consider seeking another dentist.
9.4.6Transition to Adulthood
The transition from pediatric medical care and
pediatric dentistry to adult health care and adult
dentistry is a significant issue for all adolescents,
but especially for adolescents with chronic medical conditions and disabilities. For parents and
young people with disabilities, the transition to
adult health care from pediatric health care can
be especially difficult when a child with complex, chronic needs has been cared for by the
same pediatric team for many years, especially
when the team may have been credited with saving the childs life and supporting the family
through very difficult moments.
The transition from pediatric to adult medical and dental services occurs at the same time
that young adults and their families are planning
and preparing for the young person to graduate
from high school, begin vocational supports or
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competitive employment, access government

benefits the young person is entitled to, and plan
for living outside of the family home. Given all
these changes, the transition to adult services can
be a difficult time for both the young person and
the family. For parents, it is when they tend to
confront the need for long-term planning and the
likelihood that they will not retire from caring for
the child. The following questions often arise: (1)
How long will we be on the waiting list for services? (2) Who will care for my adult child as I
age and can no longer care for her? (3) How can I
retire if I still need to provide daily care? (4) How
do I find physicians and dentists who will accept
my adult childs Medical Assistance?
For oral health care specifically, the transition
to adult care is not always clear. Some pediatric
dentists may be willing to see patients into adulthood; others will not. As the person matures to
adulthood, however, a child-like office setting
will become increasingly inappropriate. Either
the young adult or his or her family member may
wish to find a general dentist for their needs.
Unfortunately, dental professionals (both pediatric and general dentists) may lack the training and
experience to provide a dental home for children
or adults with disabilities/special health care needs.
A dental home is a place of accessible and consistent dental care, and represents a best practice for
ensuring quality care. Many dentists are not prepared to treat patients with complex medical needs
and/or disabilities that began in childhood.
Due to recent changes with the Affordable Care
Act, a family can now provide health insurance
for their child until age 26, which may help some
young adults to receive dental care. However,
most young adults with disabilities will ultimately
rely solely on Medicaid, which in most states provides minimal, if nonexistent adult dental benefits.
The high risk pools now being created as a result of recent reforms are not expected to include a
dental benefit. Basic Medicare currently does not
provide for dental services and preventive care.
Clearly, oral health care represents a major gap
in our nations overall health care system and the
young adults with disabilities are among the populations most severely affected by it.
180
9.4.7Recommendations for Families

Avoidance of the dentist is not the solution for
any child, and certainly not for CSHCN. The
cost, complications and discomfort arising from
delayed treatment are great. Recommendations
by the American Academy of Pediatric Dentistry
recommend a visit to the dentist by age one or the
eruption of the first tooth. Issues can begin early,
but probably more importantly for CSHCN, developing a relationship with a dentists office that
promotes a positive experience can ensure a good
daily maintenance plan and a secure, consistent
dental home for the child.
9.5Dentists Perspectives
9.5.1The Business Model of Dentistry
To understand why dental practices make the decisions they do, it is important to understand the
differences between dental and medical practices
and training. The majority of dentists operate
using a business model that makes working with
Medicaid highly disadvantageous. Most dentists
are independent owners of their offices, whereas
medical doctors tend to work in larger practices
or at hospital centers with multiple colleagues.
It is expensive to run a dental practice, and time
is money. In order to make it profitable, dentists
manage multiple operatories. They also handle
all of the management of the practice: hiring and
supervising staff, purchasing and maintaining
equipment, billing, and facilities maintenance.
The dentist runs not only case management of
patients but often the business management as
well. In order to optimize revenues, most patients
will spend little time with the dentist by design.
This business model is paying well. According to the ADAs website, The average net income for an independent private practitioner who
owned all or part of his or her practice in 2008
was US$207,210 for a general practitioner and
US$342,270 for a specialist (American Dental
Association 2009).
Because dentists are typically using multiple
staff to treat their patients, coordination is es-
pecially difficult to manage for patients whose

needs are greater, as the dental team size may
need to fluctuate. As a result, some dentists will
schedule specific days in their offices, so they
can provide patients with specially trained staff
and/or more staff to treat those with greater needs.
No-shows or persons who are perpetually
late will also create difficulties for the business as
the coordination of staff time is so critical. People
who use medical assistance transportation, public
transportation, or rely on others for rides to the
dentist often create frustration for the dental office
management. Likewise, persons who are extremely fearful or have cognitive delays which make it
difficult for them to remember appointments are
challenging for dental practices to serve. Both
transportation and cognitive delays are therefore
highly likely to exacerbate problems accessing
care for people with disabilities. To address this,
dental professionals need greater awareness about
the realities of relying on public transportation;
the patients need to understand why keeping their
scheduled appointments is critical.
9.5.2Reimbursement Rates
Another obstacle affecting people with disabilities is Medicaid reimbursement rates are considered well below market by dental professionals.
In effect, from the dentists point of view, treating a Medicaid patient actually costs the practice
money. Pew (2010) found that for 5 common procedures, 26 states pay less than the national average (60.5%) of Medicaid rates as a percentage of
dentists median retail fees. In other words, their
Medicaid programs reimburse less than 60.5
cents of every US$1 billed by a dentist.
Even private dental insurance may be only a
partial solution. There may not be enough coverage to spend the extra time a child with special
health care needs may require. Other required
costs such as providing an ASL interpreter or
Brailed materials, also add to the costs to be covered out of the dentists pocket.
Fortunately, some dentists are extremely generous, identifying a group home and serving all
of its residents on a biannual basis. Many dentists
and dental students also participate in a number of charitable events offering free care such
as Donated Dental Services and Special Smiles
dental screenings through Special Olympics.
Dentists can become more familiar with persons with disabilities and may be more willing to
accept them in their practices once they have had
encounters with a variety of individuals. Also,
dentists may be able to refer individuals to targeted care at these events, which is helpful. The
ultimate goal would be for every person with a
disability to identify a dental home where he or
she can receive semiannual or quarterly care.
Mark S. Goldstein (2010), a Pennsylvania
dentist, recently reflected on his 30 years of
experience treating patients with special needs
(Goddard, personal communication):
Treating patients with special needs can vary from
being as easy as allowing a little extra time for a
procedure to scheduling a whole morning in an
operating room to properly managing a case and
everything in between. Depending on where in
the spectrum you feel capable and choose to treat,
there are many practical considerations for the
dentist. As a given, the dentist and his staff need
the basic dental/medical knowledge of their particular patient to manage the dental procedure. The
vast majority of SN patients require little changes
in our normal routine to help guide them thru the
dental experience. One critical area is obtaining a
level of cooperation so that the procedures can be
accomplished safely and competently. I have often
discussed that what we do is analogous to asking
someone to utilize a drill that turns at approximately 300,000 rpm, carve their initials onto a
match head that might occasionally move without
any notice. Support to complete the dentistry may
be obtained by many methods: tell, show, do,
nitrous oxide analgesia, conscious sedation, deep
sedation, general anesthesia, and medical immobilization. Many of these techniques require additional training and licensure. Another consideration is
the dentist having a list of specialists that she or he
can refer to who will accept SN patients. There are
of course financial considerations: additional time
and staff result in higher overhead. Our field is typically reimbursed per procedure, not per time unit.
9.5.3Training and Education

Traditionally, pediatric dentists have received
training in working with patients with special
181
needs and behavior guidance/management. After

they complete dental school, pediatric residents
receive further specialized training to learn about
childrens development and psychology. They
also are trained and often have some clinical experience working with children and adults with
special healthcare needs and disabilities.
Unfortunately, there are not enough pediatric dentists to meet the demand. Dennis Ranalli,
DDS, MDS, Senior Associate Dean and Professor of Pediatric Dentistry at the University of
Pittsburgh School of Dental Medicine, notes (Ranalli, personal communication):
The specialty of pediatric dentistry traditionally
has encompassed providing oral health care for
children with special health care needs. However,
it should be noted that the total number of pediatric dentists is quite low when compared to the
dental needs of children with disabilities. Pediatric dentists alone cannot address the access to care
demands of all children, including those with special needs. It has been estimated that the majority of dentistry performed on children is provided
by general practitioners. Enhanced education and
training of specialists as well as general dentists is
paramount to addressing present and future access
to dental care for children with special health care
needs.
The recent good news is that there have been

some positive changes in training general dentists. The Commission on Dental Accreditation
(CODA) of the ADA now requires that, Graduates must be competent in assessing the treatment
needs of patients with special needs (CODA
2007).
While this is a step in the right direction, assessing treatment needs and clinical experience
are two different things. A student may be competent in assessing the treatment needs simply from
case studies. However, it is possible for a dental
student to go through his or her entire training
without having had experience assessing and
treating a real person who has a disability. Dental
schools are using this guideline for didactic and
clinical training, but depending on the school,
the students may have extremely limited clinical
experience. In addition, the CODA definition of
special needs here can be very broadly interpreted. Since most dental students do not regularly encounter people with (in particular) devel-
182
opmental disabilities such as mental retardation,

autism, Down syndrome and cerebral palsy, even
newly-trained dentists may be very uncomfortable with providing dental care to them.
Medical doctors typically train in large hospital settings where they treat a myriad of patients.
In contrast, dental students receive a majority of
their training in the clinic of their dental school
which may or may not regularly treat people with
disabilities. Generally, pediatric dentists do receive training in working with people with disabilities.
In a 2004 survey of several hundred third and
fourth year health professions students, 68%
of dental students reported they had less than
5hours of instruction for care involving CSHCN,
and roughly fifty percent of students had no clinical training involving CSHCN. Little wonder,
then, that 60% of the students reported they had
little or no confidence in their ability to provide
appropriate care to people with developmental
disabilities (Wolff et al., 2004, p. 353).
With the new CODA guidelines, it is hoped
that dental schools will embrace the more robust
ideals and more students will have the opportunity to see and treat people with disabilities they
could encounter in their private practice. For appropriate care to be rendered to children with special healthcare needs and their adult counterparts,
all dentists should be well trained in techniques
that can help their practices run more smoothly
and their patients receive the highest quality of
care. Not only should dental students be receiving this training, the practicing licensed dentists
need it too.
If the goal is to build a system prepared to
treat patients with disabilities, the goal should
be not just de-sensitizing patients to the dental
care experience, but also de-sensitizing dentists who have not many encounters with individuals with differences. Dental students should also
gain experience on how to work with patients
with disabilities as part of preparing them for a
practice that includes everyone. This includes
using person-first language, and teaching dentists
to speak to the patient directly. The dentist should
always assume competence from the person and
ask the patient if it is acceptable to share their
personal medical information with someone else

unless that has been predetermined by documentation in advance of the visit. If a caregiver is to
be included, the dentists should make sure the
patient is informed firsteven when they dont
think the person can understand.
The dental experience works best when
CSHCN, their families, and dentists work together. An excellent resource is the New York State
Developmental Disabilities Planning Council
checklists shown in Table9.2.
9.5.4Resources for Dentists

Dental professionals can rely on several professional academies and online resources for continuing education resources and information on
the care and treatment of CSHCN:
The American Academy of Pediatric Dentistry
(AAPD). http://www.aapd.org/
The American Academy of Developmental
Medicine and Dentistry (AADMD). http://
www.aadmd.org/
American Dental Association (ADA). http://
www.ada.org/
Special Care Dentistry Association (SCDA).
http://www.scdonline.org/ (Includes: Academy of Dentistry for Persons with Disabilities
(ADPD))
NIDCR (NIH) (On-Line Curriculum) Practical Oral Care for People with Developmental
Disabilities Series. http://www.nidcr.nih.gov/
OralHealth/Topics/DevelopmentalDisabilities/ContinuingEducation.htm
National Maternal and Child Oral Health
Resource Center (On-Line Curriculum) Special Care: An Oral Health Professionals
Guide to Serving Young Children with Special
Health Care Needs. http://141.161.111.132/
OHRC_main/SpecialCare/index.htm
NYOPDD (2009) now New York State Office
for People with Developmental Disabilities
Special Care Dentistry for the General Practice Resident: Practical Training Modules.
http://www.omr.state.ny.us/hp_dentistry_
training.jsp
183
Table 9.2 New York State Developmental Disabilities Planning Council checklists. (Used with permission from
Chapin and Worobey 2008)
What we need from doctors,
dentists, and other office staff:
What we can do for ourselves:
Doctors, dentists, and staff have an understanding of disabilities and the anxiety
that individuals may have about medical/dental visits
Treat individuals and caregivers with the same respect and dignity as others
receive and recognize unique family strengths
Have short wait times and a low stress, quiet environment, with special or separate
waiting rooms
Speak directly to the individual
Allow extra time for the appointment
Listen to caregivers and individuals expressed needs
Share complete and unbiased information with families
Allow caregivers to be present during visit and ask them questions when needed
See the individual as a person with unique needs, not as a disabled person
Make appropriate referrals and timely follow through with paperwork
Prepare the individual for doctor/dental visit through role-play, books, and pictures, etc.
Bring distractions for waiting and exam rooms (books, music, video games,
snacks, etc.) and offer rewards (prizes, outings, edibles, etc.)
Ask for a get acquainted visit
Schedule appointment at a time that is best for the individual, such as the first or
last appointment of the day
Keep a medical/dental journal of copayments, medications, treatments, prior
visits, and referrals
Make sure the parking lot, building, and office are accessible
Talk to the doctor/dentist before the visit, preparing staff ahead of time, and
reminding them of the individuals needs; mail or fax a summary letter if needed
Bring a support person to listen to doctor, write things down, and help with other
children
Research medical/dental issues in books, journals, and online, and ask lots of
questions
Ask for the same doctor/staff each time
9.6Some Solutions
Many advocates are working diligently to solve
the access issue for those children with special
health care needs who are most at risk. The state
advocates are strategizing, employing the support of individuals, families, dental professionals, insurance companies, and state agencies.
Anecdotally, self- and family-advocates say finding the right dentist is the hardest part of the process. Their frustration is often that when they are
provided a list by their insurance company and
call all of them to find out a) that their panel (or
number of Medicaid patients they can take, for
example) is full or b) that they do not have the required skills, that is behavior management or the
capacity to provide specialty care such as nitrous
oxide, analgesia sedation, or IV sedation. While
no dentist should deny seeing a patient because of

their disability and should be adequately trained
for all that may not be realistic in the near term.
To avoid frustration for both parties, it would
seem that the Centers for Medicaid and Medicare
could require states to list the names and levels
of care those dentists can adequately provide and
their available panel numbers on public websites
and in their publications. This would provide individuals with real-time answers, and it would
also provide states direction on its service gaps.
Most advocates agree to these key components
when discussing how to fix the access issues for
CSHCN: educate dental professionals and families on specific care needs of CSHCN; improve
reimbursement rates for dentists; improve collaboration between dentists and doctors through
medical homes or medical/dental homes; provide
184
a social service component to support those individuals who would benefit from help with specific dental care needsthat is making and keeping appointments, home care; institute levels of
care initiatives; provide resources and databases
for families to find appropriate dentists and also
to serve dentists who are looking to refer; refine
loan repayment programs; and train and license
additional providers of oral health care for specific services not requiring a dental degree.
9.6.1Education for Consumers and

Families
This should be an easy fix. Unfortunately, its not.
Finding information is difficult. If the individual
or family member is resourceful with the internet, they should be able to search for support. The
best educators for CSHCN and their families are
in the dental officebut often times, the staff is
not equipped with what they need to translate care
support to the family. Some excellent resources
are available, but each child has unique needs and
time and care should be given to provide specific
information for that person. Once a family has
identified a dentist office they like, it is critical
to go over some specific questions that may help
the family to better support the child to brush
and floss themselves or to find out the best way
to safely brush their childs teeth for them. Encouragement of self care is ideal, but not always
possible. Again, some of these key resources for
families could be linked to the dentists website
as well as state health sites and advocacy groups.
9.6.2Education and Clinical Training

for All Dental Professionals
A handful of dental schools have made huge
strides to ensure education and clinical experience for dentists and hygienists. It may be helpful
to introduce dental professionals to individuals
with disabilities early in their training, perhaps
as simple as a visit to a group home or a school
with a larger group of CSHCN. Dental students
(including hygienists and dental assistants) could
be asked to teach about proper oral health care or
just visit students or adults to deliver toothbrushes and floss and information. Personal experience
is likely the best deterrent of fear from both sides.
Why are some dentists more inclined to care
for this population? Some dentists with an inclusive practice will tell you, Why wouldnt you?
Do they live in the community that you serve?
Others will say they love working with individuals with special needs and derive a great sense
of success supporting those who others feel are
too difficult. Others say they enjoy working
with these individuals and their families who are
especially grateful for their support.
9.6.3Improve Reimbursement Rates

for Dentists
Aside from general increases in reimbursement
rates, it is clearly more equitable to pay dentists
for the added time it takes to work with an individual with specific challenges. Medicaid credentialing and paperwork for providers could be also
simplified and standardized in each state, making the ability to participate more available and
easier to access. Many states now have relatively
simple online systems for billing, a step in the
right direction. Pennsylvania has instituted a behavior management fee which pays dentists for
the increased time it may take to work with children and adults with disabilities: another helpful
support for dentists treating certain patients.
9.6.4Dental Homes
supports the use of dental homes for children
of all ages and persons with special health care
needs. This model of patient-centered care could
potentially reduce oral health risks and emergency room visits.The dental home is the ongoing
relationship between the dentist and the patient,
inclusive of all aspects of oral health care delivered in a comprehensive, continuously accessible, coordinated, and family-centered way. Establishment of a dental home begins no later than
12 months of age and includes referral to dental
specialists when appropriate (AAPD 2010).
9.6.5Levels of Care Initiative

Another approach is for families and advocates
to work with State Medical Assistance Programs
to develop a plan for articulating levels of care.
Such a plan provides individuals and caregivers
tools to appropriately assess what level of care
they may need, and then identifies dental providers with the appropriate capacity. Some states
have available previsit/preassessment surveys
which help the caregiver to discover what level
of care the person with disabilities needs. It is
important that the systems be designed so that
patients can move fluidly between different levels of care. Over time, for any individual, there
may be changes in what treatments he or she can
tolerate. The goal should be community care in
the least restrictive safe environmentnot an immediate leap to IV sedation or medical immobilization/restraint for anyone who has a disability.
9.6.6Resource/Database
United States Center for Medicaid Services has
developed a searchable online database with the
Insure Kids Now campaign. As part of that listing, dentists can select can accommodate special
needs. Perhaps this website could detail more
information for families of CSHCN. States and
other agencies should be encouraged to include
a resource database service on the internet and a
call center by zip code. Dentists can self-describe
what level of care they can provide and individuals and caregivers should have access to that information: This would supplement the typical list
of dentists listed on a website by their insurance
company. These websites could also serve to support dentists who are unable to treat certain patients by providing them with valuable resource
information for referrals. An excellent resource
example is the Dental Care for Persons with Disabilities in New Jersey (Matheny Institute of Research in Developmental Disabilities 2008) website, which allows New Jersey dentists/specialists
to input their own availability and interest. Dentists have long said they are unwilling to put their
name on a listfor fear of a deluge of clients
with special needs. This model gives the dentist
more control over their inclusion caseload.
185
9.6.7Loan Repayment for Dentists

That Serve Individuals with
Disabilities
States and the federal government should increase the incentives to new or existing dentists
with enhanced training to work with children and
adults with disabilities wherever they live. Many
state programs have changed their loan repayment structure to encourage increases in Medicaid providers. At times, a few states, such as
New Mexico and Massachusetts, have specifically tailored their incentives to dentists who treat
patients with special needs. Whatever a state decides, dentists could be encouraged to work with
all Medicaid patients with additional structures
such as part-time practice options or a percentage
of their practice dedicated to public health insurance. This was done in Maryland which provides
US$99,000 in loan repayment over a three-year
period for dentists who practice in a location of
their choice but who have a minimum of 30% of
Medicaid-eligible patients per year.
9.6.8Increase Access to Oral

Healthcare by Increasing
Opportunities for New Providers
With the number of dentists projected to fall short
of what we need to treat the general population,
states are exploring the following strategies:
Train, license, and deploy EFDH (like nurse
practitioners), who can provide services in a
community (state licensed) facility with or
without direct supervision of a dentist. These
hygienists often work directly with a dentist
but can go out in the field and perform a number of functions. For the disability community,
and especially in rural areas or where people
cannot travel, access to EFDHs would be a
tremendous improvement in access to care.
While it is critical to see a licensed dentist,
this service would certainly help those, especially, who cannot care for their own teeth on
a daily basis or with specific anomalies.
Train, license, and deploy dental therapists
Alaska is currently using Dental Therapists to
reach patients in very rural areas. Developed
in New Zealand in the 1920s, this model has
186
been used in more than 50 countries. These

professionals are increasingly being considered for isolated areas and grossly underserved populations.
Train, license, and deploy Expanded Function Dental Assistants It follows as the Dental Assistant can handle more functions and
procedures, the hygienist can do more and the
dentist can potentially see more patients.
Train, license, and deploy Advanced Dental
Hygiene Practitioners This new practitioner
model is currently being piloted by the ADA.
While the model would support children and
adults with disabilities, at this time there is no
specific training in their curriculum to work
with patients with special healthcare needs.
The current training will teach the practitioner
to assess risk, educate, provide preventive services and provide referrals. Once established,
the advocates in individual states will have to
create awareness about this idea and develop
a similar model inclusive of people with disabilities.
9.6.9The Patient Protection and

Affordable Care Act
Also known as the health care reform of 2010,
this bill was signed into law on 23 March 2010. If
continued, several sections of this act (aside from
insurance reforms) can directly impact people
with disabilities: First, it plans to establish standards for accessible medical/dental equipment;
data and quality measures will be collected on/
by individuals with disabilities; research and
demonstration projects in training the workforce
for working with this population; grants to educate students and professionals who work with
this population; a five-year national, public oral
health campaignone target population of which
is individuals with disabilities; school based sealant programs; expansion of Medicaid to 133% of
the Federal Poverty Leveland, if appropriated,
additional funds to states to support these efforts.
All of these provisions bode well for CSHCN.
(One exception might be the Medicaid expansion, which in the short term, could in fact stress
the system as there are currently not enough Med-
icaid dentists/specialists to serve all Medicaid

beneficiaries.) None of these measures, however,
represent a direct fix for all the challenges presented by dentists training and business model.
9.6.10Medically Underserved
Population (MUP)
Another strategy is to formally designate people
with disabilities as medically underserved. For
years, groups such as the AADMD have been
advocating for medically underserved status.
Recently, a large group of high profile advocacy
groups wrote the US Health and Human Services Secretary Sebelius, asking for designation as
a MUP, which could provide additional federal
dollars to help serve all areas of health including dental care. (Joint Letter on Cross-Disability
Representation in Designating MUPs 2010)
With the recession and potential loss of federal Medicaid dollars, states are looking to drop
adult coverage from Medicaid and those who
cant properly take care of themselves or cannot
access the funds necessary to obtain quality care
are at even greater risk. Future funding resources
from the federal government would be well spent
ensuring that individuals with disabilities are
treated to appropriate diagnostic and restorative
dental care, avoiding greater health risks, emergency room visits, and death.
9.6.11Additional Resources for

Individuals, Caregivers, and
Professionals
Website, Frequently asked questions. http://
www.aapd.org/publications/brochures/specialcare.asp. Accessed 1 Nov 2010
NICDR Dental Care Everyday: A Caregivers
Guide, NIH, NICDR available on line and free
publications, http://www.nidcr.nih.gov/OralHealth/Topics/DevelopmentalDisabilities/
DentalCareEveryDay.htm. Accessed 8 Aug
2010
Perlman, S et al. (2008). Special Olympics,
Special Smiles: A Caregivers Guide to Good
Oral Health for Persons with Special Needs.

http://media.specialolympics.org/soi/files/
healthy-athletes/Special%20_Smiles_Good_
Oral_Health_Guide.pdf. Cited 10 Oct 2010
NIDCR Research (NIH). (On-Line Curriculum)
Practical Oral Care for People with Developmental Disabilities Series http://www.nidcr.
nih.gov/OralHealth/Topics/DevelopmentalDisabilities/ContinuingEducation.htm
National Maternal and Child Oral Health
Resource Center (On-Line Curriculum) Special Care: An Oral Health Professionals
Guide to Serving Young Children with Special
Health Care Needs. http://141.161.111.132/
OHRC_main/SpecialCare/index.htm
NYOPDD (2009) now New York State Office
for People with Developmental Disabilities
Special Care Dentistry for the General Practice Resident: Practical Training Modules,
http://www.omr.state.ny.us/hp_dentistry_
training.jsp. Cited 29 Oct 2010
References
Agency for Healthcare Research and Quality. (2009).
National healthcare disparities report (AHRQ Publication No. 100004, pp.277292). Rockville: U.S.
Department of Health and Human Services.
American Academy of Pediatric Dentistry. (2010). Policy on the medical home. AAPD Reference Manual,
32(6,10/11), 2526.
American Academy of Pediatrics. (2008). Guidelines on
behavior guidance for the pediatric dental patient.
AAPD Reference Manual, 32(6, 10/11), 147155.
American Dental Association. (2007). Survey of dental
fees. http://www.pewcenteronthestates.org/uploadedFiles/Cost_of_Delay_web.pdf. Accessed 1 June 2010.
American Dental Association. (2008) State innovations to
improve access to oral health: A compendium update.
http://www.ada.org/prof/advocacy/medicaid/medicaid-surveys.asp. Accessed 29 May 2009.
American Dental Association. (2009). 2009 Survey of
Dental Practice. Washington, DC: American Dental
Association. (Reprinted with permission. All rights
reserved. Any form of reproduction is strictly prohibited without prior written permission of American
Dental Association).
American Dental Education Association. (2004). Dental
education at a glance. www.adea.org.
Casamassimo, P., Seale, S., & Ruehs, K. (2004). General
dentists perceptions of educational and treatment
issues affecting access to care for children with special
health care needs. Journal of Dental Education, 68(1),
2328. (Reprinted by permission of Journal of Dental
187
Education, (Vol. 68), No. 1, January 2004. Copyright

2004 by the American Dental Education Association.
www.adea.org).
Centers for Disease Control and Prevention (CDC). 2011.
CDC health disparities and inequalities report. 2011.
Morbidity and Mortality Weekly Report, 60 (Suppl),
1114.
Chapin, D., Worobey, R., New York State Developmental
Disabilities Planning Council. (2008). Strategies for
successful medical and dental office visits. Albany:
New York State Developmental Disabilities Planning
Council (used with permission).
Commission on Dental Accreditation. (2007). American
dental association accreditation standards for dental
education programs. Washington, DC: American Dental Association. http://www.ada.org/sections/educationAndCareers/pdfs/current_predoc.pdf.
Elwyn, Inc. (2006). People with developmental disabilities and oral health in the commonwealth of Pennsylvania: A report to the Pennsylvania developmental
disabilities council (pp.71, 78). Pittsburgh: ACHIEVA
(www.achieva.info).
GAO. (2009a). Statement of Katherine M. Iritani; Testimony before the Subcommittee on Domestic Policy,
Committee on Oversight and Government Reform,
House of Representatives: MEDICAIDState and
federal actions have been taken to improve childrens
access to dental services, but more can be done (GAO10112 T, pp. 112). http://www.gao.gov/new.items/
d10112tpdf. Accessed 5 May 2010.
GAO. (2009b). Report to Congressional requesters: MEDICAIDState and federal actions have been taken to
improve childrens access to dental services, but gaps
remain (GAO-09723, pp. 148). http://www.gao.
gov/new.items/d09723.pdf. Accessed 27 July 2011.
Goldstein DDS, M. S. (2010). Dentists perspectives on
working with individuals with special needs. Personal
correspondence.
Haden, N. K., Weaver, R. G., Valachovic, R. W. (2002).
Meeting the demand for future dental school faculty:
Trends, challenges, and responses. Journal of Dental
Education, 66(9), 11021113.
Health Resources and Services Administration Health
Professions. (2009). Health professional shortage
areas as of September 30, 2009. http://bhpr.hrsa.gov/
shortagedesignation/index.html. Accessed 30 Sept
2009.
Isman, B., Newton, R., Bujold, C., Baer, M. T. (2000).
Planning guide for dental professionals serving children with special health care needs. University of
Southern California University Affiliated Program,
Childrens Hospital Los Angeles, CA. http://www.
mchoralhealth.org/pdfs/ohguide.pdf. Accessed 1 Nov
2010.
Joint Letter on Cross-Disability Representation in Designating Medically Underserved Populations. (2010).
http://www.autisticadvocacy.org/modules/smartsection/item.php?itemid=116.
King, K. (2009). Northern Michigan womans death
raises calls to restore adult Medicaid dental benefits.
The Grand Rapids Press. http://www.mlive.com/news/
188
grand-rapids/index.ssf/2009/10/northern_michigan_
womans_death.html. Accessed 2 July 2010.
Lewis, C. W. (2009). Dental care and children with special health care needs: A population-based perspective. Academic Pediatrics, 9(6), 420426.
Lewis, C., Robertson, A., Phelps, S. (2005). Unmet dental care needs among children with special health care
needs: Implications for the medical home. Pediatrics,
116, e426--e431.
McDaniel, J. (2010). Mothers perspective, personal communication/interview. Accessed 10 Aug 2010.
McKinnon, M., Luke, G., Bresch, J., Moss, M., & Valachovic, R. (2007). Emerging allied dental workforce models: Considerations for academic dental
institutions. Journal of Dental Education, 71(11),
14761491.
McPherson, M., Arango, P., Fox, H., Lauver, C., McManus, M., Newacheck, P. W., Perrin, J. M., Shonkoff, J.
P., & Strickland, B. (1998). A new definition of children with special health care needs. Pediatrics, 102,
137140.
National Association of Dental Plans. (2010). Memorandum: Answers to Institute of Medicine questions
IOM & essential benefits. http://www.nadp.org/
Libraries/HCR_Documents/NADP_Memo-NADP_
Answers_IOM_re_EHBP12_6.sflb.ashx. Accessed 15
Dec 2010.
National Center for Health Statistics. (2007), Health
United States, 2008, Disability Data page iii. http://
www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=healt
hus07&part=A1. Accessed 5 Aug 2010.
National Council on Disability. (2009). The current state
of health care for people with disabilities (p.87). In W.
M. Nehring (Ed.), Health promotion for persons with
intellectual and developmental disabilities: The state
of scientific evidence (pp.159, 167). Washington, DC:
American Association on Mental Retardation.
Nehring, W. M. (Ed.). (2005). Health promotion for persons with intellectual and developmental disabilities:
The state of scientific evidence. Washington: American Association on Mental Retardation, p. 101.
NYOPDD. (2009). New York state office for people with
developmental disabilities. www.opwdd.ny.gov.
Otto, M. (2007). For want of a dentist: Pr. Georges Boy
dies after bacteria from tooth spread to brain. Washington Post. http://www.washingtonpost.com/wp-dyn/
content/article/2007/02/27/AR2007022702116.html.
Accessed 3 Aug 2010.
Perlman, S., Friedman, C., & Fenton, S. (2008). http://
www.nidcr.nih.gov/OralHealthtopics.DevelopmentalDisabilities/DentalCareEveryDay.htm. Special Olympics Inc., Healthy athletes, special smiles, a caregivers
guide to good oral health for persons with special
needs.http://media.specialolympics.org/soi/files/
healthy-athletes/Special%20_Smiles_Good_Oral_
Health_Guide.pdf. Accessed 10 Oct 2010.
Pew. (2010). The cost of delay: State dental policies fail
one in five children. http://www.pewcenteronthestates.org/uploadedFiles/Cost_of_Delay_web.pdf.
Ranalli, D. N. (DDS, MDS, Senior Associate Dean, University of Pittsburgh School of Dental Medicine).
(2010). Personal correspondence.

Romer, M., & New York State Office for People with
Developmental Disabilities. (2009). Special care dentistry for the general practice resident: Practical training modules. Special care dentistry: Legal and ethical
issues. http://www.omr.state.ny.us/hp_dentistry_training.jsp. Accessed 29 Oct 2010.
Satcher, D. (2000). US department of health and human
services, oral health in America: A report of the surgeon general. Rockville: US Department of HHS,
National Institute of Dental and Craniofacial Research,
National Institutes of Health.
The Matheny Institute of Research in Developmental Disabilities. (2008). Dental care for persons with disabilities in New Jersey. http://www.disabilityhealth.org/
dental/. Accessed 26 Oct 2010.
Title, A. (2010). Mothers perspectives. Personal
communication/interview.
Press Release, HHS Awards ARRA Funds to Establish a Center of Excellence in Research on Disability
Services, Care Coordination and Integration. http://
www.hhs.gov/news/press/2010pres/05/20100506a.
html. Accessed 5 Aug 2010.
U.S. Department of Health and Human Services Centers
for Medicare and Medicaid Services. (2010). CHIP
dental coverage. https://www.cms.gov/CHIPDentalCoverage/. Accessed 29 Sep 2010.
U.S. Department of Health and Human Services Centers
for Medicare and Medicaid Services Website. (2010).
Medicaid dental services. http://www.cms.gov/MedicaidDentalCoverage/. Accessed 28 Oct 2010.
U.S. Department of Justice Civil Rights Division. (2010).
Access to medical care for individuals with mobility
disabilities. http://www.ada.gov/medcare_mobility_
ta/medcare_ta.htm. Accessed 9 Sep 2010.
U.S. Government Accountability Office. (2009a). Figure
1: Barriers to children seeking Medicaid dental services and barriers to dental providers serving Medicaid beneficiaries, as Reported by State Medicaid
Programs (pp. 14). http://www.gao.gov/new.items/
d10112t.pdf. Accessed 5 May 2010.
U.S. Government Accountability Office. (2009b). Extent
of dental disease in children has not decreased and
millions are estimated to have untreated tooth decay,
report to congressional requesters. http://www.gao.
gov/new.items/d081121.pdf. Accessed 5 May 2010.
United States Congress. (2009). One Hundred and Eleventh Congress H.R. 2: CHIP Reauthorization. To
amend Title XXI of the Social Security Act to extend
and improve the Childrens Health Insurance Program, and for other purposes. Washington, DC: United
States Government Printing Office. http://frwebgate.
access.gpo.gov/cgi-bin/getdoc.cgi?dbname=111_
cong_bills&docid=f:h2enr.txt.pdf. Accessed 21 July
2010.
Wolff, A., Waldman, B., Milano, M., Perlman, S. (2004).
Dental students experiences with and attitudes toward
people with mental retardation. Journal of American
Dental Association, 135, 353357.
Tuberculosis: The Special Needs

of Children
10
Elisabetta Walters, Elizabeth Lutge, and Robert P. Gie
Abstract
Mycobacterium tuberculosis infects one-third of the worlds population

and is a leading cause of morbidity and mortality, particularly in poorer
countries and underresourced communities where tuberculosis (TB) is endemic. Although childhood TB is largely preventable, children living in
these areas are extremely vulnerable to the development of disease as a
result of the interplay of environmental, social, and medical/health systems factors. TB disease is the end result of a progression from exposure
to an infectious case, to infection and subsequent development of symptoms. Young and immune-suppressed children progress more rapidly and
develop more severe forms of disease.
The health care needs of children in TB-endemic areas are being neglected both by the global community and by the local governments. In
order to prevent TB, children require adequate nutrition, hygienic living
spaces, access to education, and health care. These basic needs are largely
unmet in countries where governments are unstable, and where resources
are limited or inequitably distributed. In addition, children require strong
health systems, where infectious adults are identified and promptly treated, and where child contacts of such adults are administered timely prophylactic therapy. Vertical transmission of HIV needs to be eliminated and
E. Walters ()R. P. Gie

Desmond Tutu Tuberculosis Centre, Department of
Pediatrics and Child Health, Faculty of Health Sciences,
University of Stellenbosch, PO Box 19063,
Tygerberg 7505, South Africa
e-mail: ewal@sun.ac.za
E. Lutge
Health Systems Trust, PO Box 808, Durban 4000,
South Africa
e-mail: elizabeth@hst.org.za
R. P. Gie
e-mail: rpg1@sun.ac.za
189
190
HIV infection appropriately treated. A safe

and effective vaccine should be a global research priority.
Children with TB disease need to be diagnosed accurately and treated speedily in
order to prevent serious complications. The
diagnosis of TB remains elusive in most highburden countries due to the poor performance
of the available tools and the lack of adequate
laboratory services. It is imperative that novel
rapid diagnostics are evaluated for use in
the pediatric population. In addition to diagnostics, therapeutic options are also limited
in children, especially those suffering from
drug-resistant TB. Drug doses are mostly not
evidence based, but extrapolated from adult
clinical trials, and drug formulations are not
tailored for children. This impacts adherence
and eventual treatment outcomes. There has
been very little research into new anti-TB
drugs until recent years, mostly due to the lack
of profitability of conducting therapeutic trials
in poorer nations.
If international and local commitment to
improving the situation of children in underprivileged areas is not undertaken, children
will continue to suffer unnecessary morbidity
and mortality from preventable diseases such
as TB.
Abbreviations
ART Antiretroviral Therapy

BCG Bacille Calmette-Guerin
BPD Bronchopulmonary Dysplasia
CF Cystic Fibrosis
CNS Central Nervous System
CXR Chest Radiograph
DOTS Directly Observed Therapy Short
Course
HAART Highly Active Antiretroviral Therapy
HIV Human Immune-Deficiency Virus
IGRA Interferon Gamma Release Assays
INH Isoniazid
IPT Isoniazid Preventive Therapy
MDR TB Multidrug-Resistant Tuberculosis
MTB Mycobacterium tuberculosis
E. Walters et al.
PCR Polymerase Chain Reaction

PMTCT Prevention of Mother-to-Child
Transmission of HIV
RTHC Road-to-Health Card
TB Tuberculosis
TNF Tumor Necrosis Factor
TST Tuberculin Skin Test
XDR Extensively Drug Resistant
10.1Introduction
The health care needs of children living in tuberculosis (TB)-endemic areas have long been
neglected. Childhood TB was previously viewed
as the dead-end of TB disease, an entity of negligible public health importance. However, the
past few decades have seen a resurgence of TB,
largely fuelled by the Human Immune-deficiency
Virus (HIV) epidemic. In 2008, more than 9million new TB cases were reported; almost a quarter of the more than 2million TB deaths occurred
in HIV-infected individuals (WHO 2009). It is in
this setting of an uncontrolled epidemic that pediatric TB has recently gained recognition as a
pressing public health issue. It is estimated that in
settings of high TB burden up to 1520% of total
TB cases occur in children (Marais 2006c). Although children mostly do not transmit TB to the
same degree as adults, they make up a significant
proportion of the total case load, are an indicator
of poor TB control program, and also contribute
to the pool of individuals who may reactivate
their TB later in life. Childhood TB, in addition,
is associated with considerable individual morbidity and mortality, particularly in the case of
infants and HIV-infected children.
TB is a disease which illustrates the interplay
among many social, economic, medical, and demographic factors that contribute to the exquisite
vulnerability to the disease experienced by children in developing countries and underresourced
communities. TB can be viewed as a progression
from exposure to the causative organism, Mycobacterium tuberculosis (MTB), to infection
and to manifestations of disease. Disease can
10 Tuberculosis: The Special Needs of Children
then progress to cure, death, or variable degrees

of temporary or permanent disability (Gie etal.
2009). At every stage of this disease continuum,
children from underprivileged populations are at
risk of progression to the next phase. Conversely,
at every stage, interventions can be put in place to
reduce the risk of this happening. This transition
framework (Gie et al. 2009)can be applied to
many other communicable and noncommunicable diseases that affect children in resource-limited settings. TB is presented here as an example.
The aim of this chapter is to illustrate the special needs of children exposed to and suffering
from diseases of poverty and systematically point
out how these special needs are largely ignored
by national health care programs and international funding bodies at large. Most of the specific
needs of children can be addressed by improving
the needs of families and improving health care
in general.
10.1.1The Contribution of Poverty

and Lack of Access to Resources
Many factors contribute to the huge disease burden suffered as a result of TB by children in developing countries. Poverty and lack of access to
resources constitute the common string that ties
most of these factors together.
Poverty may not only contribute to TB (probably due to undernutrition, poor housing, and
underutilization of health care), but itself may
be exacerbated by the costs incurred due to the
illness. The costs incurred by households as a
result of TB and HIV may be catastrophic, with
households in developing countries spending
more than 10% of their incomes of illness-related
costs (Russell 2004). Many patients with TB may
resort to the selling of assets or take out unaffordable loans to pay for their treatment (Bates
etal. 2004). For example, in Malawi, TB treatment costs 248% of monthly expenditure for
poor patients and 124% of monthly expenditure
for better off patients (Bates etal. 2004). In Tajikistan, the costs incurred during an episode of
TB may be two and a half times greater than the
per capita GDP, mostly during the early stages
191
of TB (Aye et al. 2010). In Swaziland, patients

themselves identified two aspects of poverty as
highly important in undermining adherence to
TB treatment: insufficient funds to attend the
clinic for review and lack of food while on TB
treatment (Escott and Newell 2007). The mutually reinforcing effects of poverty and TB need to
be disentangled, and innovative strategies implemented to reduce poverty in those susceptible to
TB, and minimize the economic impact of TB in
households affected by the disease. Under these
circumstances it is not difficult to imagine that
children living in impoverished families are more
vulnerable to both TB and HIV coinfection.
Access to health care may be limited by a
number of factors, from the side of the services
themselves (supply-side factors), and from the
side of the patients (demand-side factors; Bates
et al. 2004). Supply-side factors include accessible clinics, adequately trained and empathetic
staff, well-functioning diagnostic systems, and
readily available drugs. In the current global
economic recession, external funding for HIV
in low- and middle-income countries has not increased in proportion with the increased numbers
of patients accessing treatment (Chatterjee 2009).
This may result in inadequate and poorly motivated staff, poorly available diagnostics, and drug
shortages. These shortages will be compounded
by administrative problems within individual
health systems.
Demand for health care may be reduced by
the costs, both direct and indirect, of accessing
health service (Bates et al. 2004). Even if poor
patients manage to access the services once, ongoing contact may be impossible due to the high
associated costs (Bates et al. 2004). Similarly,
costs of medicines (where these are not free)
may make treatment impossible to afford. In the
case of HIV, failure to access treatment means an
increased risk of TB infection in the individual
and transmission of this infection to the community. In the case of TB, poverty has been associated with greater morbidity and mortality due
to delays in accessing initial treatment, and undermining adherence to treatment once this has
been accessed (Bates et al. 2004). The costs of
accessing treatment are particularly burdensome
192
E. Walters et al.
Table 10.1 Strategies to prevent exposure to MTB

Detection and treatment of adult infectious cases
Early detection of cases
Individual and community health education programmers
Education and collaboration with traditional healers
Improve accessibility of primary care health facilities to needy communities
Accurate diagnosis
Train primary health care staff to actively screen for TB
Improve laboratory infrastructure and training of laboratory technicians
Allocate resources for implementation of new sensitive and specific diagnostic tests
Ensure treatment completion
DOTS strategy
Involve treatment supporters to oversee administration of medicines
Home visits by volunteer or trained community health care worker
Effective tracing programs for defaulters
Infection control at home, at health facilities and in child care centers
Administrative controls
Isolation of TB patients in wards/clinics
Reduction of hospital stay
Limitation of hospital visits by vulnerable individuals
Fast track adult TB suspects: diagnosis and treatment
Environmental controls
Natural and/or mechanical ventilation
Ultraviolet germicidal irradiation
High efficiency particulate air filtration
Personal protection
Early education of TB patients regarding cough etiquette
Particulate respirators (masks) for short term exposure
Provision of adequate housing
Adequate size
Adequate ventilation
DOTS directly observed therapy short course
for women and the elderly, and include costs of

transport, fees for services, and child care (Bates
etal. 2004). In those screening programs where
the onus is on the patient to attend the clinic for
screening, these obstacles may prevent many
children from accessing TB prophylaxis.
Yet health care is only one of the resources
to which children in poor communities have limited access. Equally important is lack of access to
education and information, to safe and hygienic
living and playing environments, to adequate nutrition, to a secure parental income.
10.1.2Special Needs of Children

in First Two Phases of TB:
Exposure and Infection
The initial step in the progression of TB in children and adults is exposure to the MTB bacillus. In children, the risk of becoming infected
following exposure is dependent on the dose of

infecting organism, closeness of the contact, the
duration of exposure, and the ability of the hosts
immune system to fight off infection.
10.2Prevention of Exposure to TB
(Table10.1)
10.2.1Detection and Treatment of
Infectious Cases
Children are exposed to TB through their infected families and communities, and so the first
method of preventing exposure to TB in children
is to treat the adult and other childhood cases
with whom they come into contact. In children
younger than 2 years, the source of exposure is
most often a household member, but in children
older than 2, who are more socially mobile, the
source of exposure is more often a community
193
member (Marais et al. 2004). This implies the

need for an effective health system, which is able
to detect cases of TB early (before the infectious
case spreads the bacillus), is able to diagnose TB
accurately, and is able to treat TB completely.
Although health systems in developed countries
may be able to achieve these goals to a large degree, in many developing countries (where the
burden of TB is higher), weaker health systems
in many cases may fail to do so.
Globally, only 64% of all new smear-positive
cases of TB were detected in 2007, and only 57%
of all new cases of TB (all forms; WHO 2009).
These figures, which fall below the global target of 70%, mask wider interregional variation
in case detection rates, with health systems in
Europe, the Americas, and the Western Pacific
region performing well, but health systems in
Africa performing poorly (e.g., only 47% of all
smear-positive cases of TB were detected in Africa in 2007; WHO 2009). Thus, although treatment success rates are high both globally (with a
global rate of 85% in 2006) and in resource-poor
countries (the treatment success rate in Africa in
2006 was 75%; WHO 2009), this represents only
a proportion of all TB cases.
The detection of TB cases in Africa and other
developing countries can only reach the aforementioned targets via a multilevel approach:
1. The global scientific community must be committed to develop accurate point-of-care tests
for TB diagnosis (WHO Global Plan to Stop
TB 20112015), and to render these affordable to the countries with the highest burden
of disease.
2. National and local governance must improve
the accessibility of health systems to the populations with the greatest need.
3. Primary health care providers in TB-endemic
areas should be trained to screen for symptoms of TB in every patient seen at the health
facility.
4. Health education around TB should extend
from schools to workplaces and community
meeting places. Destigmatization of an often
culturally abhorred disease needs to take place
in order to empower individuals to take responsibility for their own health. In countries
where traditional healers are culturally important, they can be coopted by the health system
to assist in the early diagnosis of TB in their
clients. Where they are the first point of call
in times of sickness, traditional healers can
significantly reduce the time to diagnosis and
treatment by being aware of the TB diagnosis
and speedily referring patients likely to be suffering from TB to the health facility (Colvin
etal. 2001).
Although it has been argued that finding and
treating TB in children is a far more effective
way of dealing with the disease in this group
than preventing and treating the disease in adults
(Starke 2002), it cannot be denied that a decline
in the infectious pool of TB in childrens contacts
can only reduce the rate of exposure and therefore the incidence of infection in children. It has
been demonstrated that as the number of smearpositive adult TB patients increases in a community, the number of children infected and developing disease increases exponentially (Donald
2002). Clearly, decreasing the infectious pool in
the community will address the needs of vulnerable children.
10.2.2Infection Control at Home, at

Health Facilities, and in Child
Care Centers
TB is an airborne disease, spread by the aerosolization of bacteria through coughing and spitting. Inhalation of these bacteria may result in
infection in the lung; contiguous, lymphatic, or
hematogenous spread from the lung leads to involvement of other organs or to generalized dissemination. The advent of Multi-Drug-Resistant
Tuberculosis (MDR TB), which is as infectious
as drug-susceptible TB, and much more expensive and difficult to treat, makes infection control
practices even more important in both public and
private places (WHO 1999b).
Prevention of exposure can be achieved
though the education of infected patients to observe good cough etiquette. Cough etiquette
is a way of coughing and disposing of sputum
that ensures that bacilli are not released into the
194
air, to infect others. Coughing behind a hand or

other barrier (like a tissue or handkerchief), and
disposing of sputum hygienically, such as into a
toilet, are important components of infection control. Infected adults should be taught such procedures early in their contact with the TB program,
so that the risk to those they live and interact with
is diminished. Although MTB remains viable in
moist and dried sputum for prolonged periods of
time, direct contact is a much less common, and
therefore less important, source of MTB infection. It is rather the act of coughing into a barrier
such as a tissue that contributes to infection control, as it prevents aerosolization of TB-infected
particles into the air.
Exposure can also be prevented by removing
infected air from the indoor environment, either through sophisticated measures such as negative pressure ventilation, which can be used in
high-burden institutions such as health facilities,
or through natural ventilation, which is appropriate for homes and other institutions, such as child
care facilities.
10.2.2.1Infection Control Measures at

Health Care Facilities
The ventilation of homes, institutions, and other
buildings is another important way of reducing
the burden of circulating TB bacilli. In the case
of health facilities, it is particularly important to
prevent the spread of infection from TB patients
to other patients, children, and health staff. Because such facilities by definition house large
numbers of infected patients, special measures
may be needed to reduce the risk of exposure to
infection.
Infection control measures are classified into
three main types: administrative controls, engineering controls, and personal respiratory protection (Humphreys 2007).
Administrative controls (which are the most
effective and the least expensive of the three) include:
The early detection and treatment of people
with TB, especially those with pulmonary
smear-positive TB.
E. Walters et al.
Isolation or separation of TB patients from

other patients, especially those who are HIVpositive.
Limitation of periods of hospitalization.
Limitation of hospital or health facility visits by vulnerable individuals such as children
(WHO 1999b).
The lack of provision by health facilities and
clinics to ensure isolation of suspected or known
infectious cases is potentially an important source
of exposure for uninfected children and adults
alike. Where space and resources are limited, one
structure may be employed for multiple uses. It
is not uncommon for infants attending well-baby
clinics to share a waiting area with adult TB suspects, and for toilets to frequently double up as
expectorating areas for the production of sputum
to be examined.
The clinics should be organized so that those
suspected of having TB be fast tracked into areas
where the risk of infecting children and other
vulnerable populations, especially HIV-infected
patients, be kept to a minimum.
Infectivity among children with TB is generally considered to be low due to the paucibacillary nature of their disease: the bacillary load that
causes disease in children is much lower than
that of adults, and pediatric TB seldom presents
with large lung cavities that communicate with
the airways. Therefore, TB in children most often
results in smear-negative (and frequently also
culture-negative) sputum. However, in pediatric
wards, children who do have smear-positive TB
and those with cavities are infectious and should
be isolated. Children with suspected MDR TB
are of particular concern and should be isolated
even if they have paucibacillary disease as they
are of particular danger to their fellow patients,
visiting parents, and staff.
Environmental (engineering) controls, which
should be used together with administrative controls, include:
Natural and/or mechanical ventilation.
Ultraviolet germicidal irradiation (UVGI,
which inactivates bacilli and should be used
in conjunction with ventilation).
High-efficiency particulate air filtration
(WHO 1999b).
Personal protection is used as a final defense

against exposure, in the form of particulate respirators (masks that trap minute particles and
prevent inhalation of bacilli; WHO 1999b). As
masks are not worn continuously, especially not
in the presence of unsuspected TB cases, masks
are really a last resort and should not replace effective administrative or engineering controls.
10.2.2.2Infection Control Measures

in the Home and Child Care
Facilities
Infection control measures are also important in
the home, where the risk of exposure to TB may
be even higher. Exposure, and infection resulting from this exposure, is more likely when children are in close and prolonged contact with an
infectious case. If the infectious case is smearpositive, 6080% of children become infected,
and if the infectious case is smear-negative, 30
40% become infected (Marais et al. 2004). The
longer the duration of exposure to an infectious
case, and the closer the proximity to the child,
the greater the likelihood of the child developing infection (Marais et al. 2004). For a child,
the home environment is therefore probably an
even more important source of infection than the
health facility.
UVGI and high-efficiency particulate air
filtration are practically very difficult to implement in homes and child care centers. As TB is
primarily acquired by inhalation of infected respiratory secretions/droplets, the level of ventilation in the home, its spaciousness and the period
of infectiousness of household adult TB cases,
are the most important variables in determining the levels of circulating bacilli (Wood et al.
2010), which can remain suspended in the air
for 4580 minutes after expectoration. In addition to these attributes (discussed in more detail
under provision of adequate housing below),
other infection control measures in the home can
limit the spread of infection. These include separate living areas for infected household members
(if the size of the house permits), the opening of
windows (if weather and security concerns permit), and the use of particulate respirator masks
195
by uninfected household members and visitors

(WHO 1999b).
Similar measures to those used in the home
could be employed in child care facilities, where
children are exposed to many infectious diseases,
including TB. More specifically, programs targeting prevention and health promotion in these
centers could be set up to provide training in the
basic principles of hygiene, as well as to screen
carers regularly for TB symptoms and refer rapidly to a health care facility if necessary.
10.2.3Provision of Adequate Housing

Although the relationship between house size
and development of TB is contested, it is suggested that overcrowded conditions do facilitate the
spread (through airborne droplets) of TB (Bates
et al. 2004). In fact, overcrowding is thought to
be one of the factors responsible for the long acknowledged but debated associations between
poverty and TB (Spence et al. 1993). Thus, in
order to limit the spread of infection from cases
within the household, children need to live in
well-ventilated houses that are of adequate size
and not overcrowded.
Governments have a responsibility to ensure
this, and many take active steps to do so. For example, in South Africa, there has been considerable progress in the provision of adequate housing since 1994. The proportion of households
living in formal dwellings has increased from
64% in 1996 to 71% in 2007 (Community Survey
2007, quoted in Day etal. 2009, p.252).
In warm climates, where much of day time
is spent outdoors, exposure to infection is less
likely. However, at night when doors and windows are often closed for security reasons, and
in cold climates where much time is spent inside,
the chance of exposure to the TB bacillus is high
(WHO 1999b). Simply opening windows and
doors, where this is possible, provides more ventilation than mechanical ventilation systems and
would contribute significantly toward reducing
circulating airborne bacilli (Escombe etal. 2007).
In sub-Saharan Africa, where the highest burden
of TB and HIV occur (Escombe etal. 2007), the
196
E. Walters et al.
Table 10.2 Strategies to prevent infection with MTB

Nutrition
Governmental and nongovernmental food supplementation programs
Micronutrient supplementation
Self-sustaining community-based food-generating initiatives
Income-support initiatives
Income grants for the unemployed
Prevention and treatment of HIV infection
Prevention of HIV infection in
Governmental and nongovernmental initiatives promoting safe sexual practices
adults
Community education programs
Upliftment of women
Timely post-exposure prophylaxis in cases of rape
Prevention of HIV infection in
Effective and well-coordinated PMTCT program
children
Potent antiretroviral drugs in pregnancy and in the perinatal period for mothers
and infants
Safe management of labor and delivery
Appropriate maternal counseling around safe infant nutrition
Early testing of infants by HIV PCR
Integration of infant and ARV clinic services so that babies who fail PMTCT
are fast-tracked to start HAART urgently
Sex education programs for adolescents
Treatment of HIV infection in
Access to potent and safe HAART regimens
adults and children
Early treatment of HIV-infected infants
Regular monitoring to detect treatment failures early
Engagement of treatment supporters to encourage excellent adherence
Integration of adult and child HIV clinics for family-centered care
Research needs
Effective, safe, and affordable TB vaccine
Effective, safe, and affordable HIV vaccine
New safe, effective, and affordable HIV drugs
HAART highly active antiretroviral therapy; PMTCT prevention of mother-to-child transmission; PCR polymerasechain reaction
opening of windows and doors at home should

be strongly encouraged by health care workers.
10.3Prevention of TB Infection
(Table10.2)
10.3.1Provision of Adequate
Nutrition
Poverty and lower social class have shown to be
directly associated with increased incidence of
TB. The decline in incidence of TB in the early
part of the twentieth century has been presented
as evidence supporting this (McKeown and Record 1962), although others have suggested that
natural selection was also instrumental in the
phenomenon (Davies et al. 1999). However, it

does seem clear that malnutrition, which is one
of the most important consequences of poverty,
plays a significant role in the progression from
TB exposure to infection (Long 2004). Food
shortages, and specifically protein shortages, as
well as deficiencies in vitamin D, iron, and zinc,
have been implicated in the development of TB
infection and disease (Bates et al. 2004), probably through their effects on the immune system.
The Academy of Sciences of South Africa
(ASSAF 2007) stated that nutritional supplementation of undernourished children could reduce
the incidence of TB. Indeed, it has also been suggested that the maintenance of a replete nutritional status may be the most important treatment
197
we can offer for latent TB infection (Long

2004, p.276).
Sadly, malnutrition is still widespread globally, with 22% of children over the world classified as undernourished (Blssner and de Onis
2005). Although the number of malnourished
children worldwide decreased over the 1990s, in
Africa the number continued to rise (from 26 to
32million) and continues to do so (Blssner and
de Onis 2005). Nutritional status of children in
South Africa has deteriorated in the past decade
(Swart etal. 2008). This has occurred against a
backdrop of longstanding undernutrition among
deprived children in this country. Stunting (low
height for age) is the most common form of malnutrition in South Africa, implying a chronic lack
of food over long periods (ASSAF 2007). Although the deterioration in nutritional status can
be attributed at least in part to the mutually reinforcing effects of HIV and malnutrition (ASSAF
2007), it is also due to the high prevalence of
food insecurity1 in the country. Between 11 and
17million South Africans are considered food insecure, with 38% of African households often or
sometimes going hungry (ASSAF 2007).
In order to prevent the development of TB
infection and disease, children at risk of undernutrition should be provided with a nutrient-rich
and balanced diet. Adequate nutrition and housing can be provided directly by governments
and nongovernmental organizations. Examples
include school feeding programs, soup kitchens,
fortification of staple foods, and housing projects.
Nutrition (and housing) can also be improved
by providing income support for poor families,
through the provision of social grants, public
work programs, microfinance schemes, and others. Social grants (e.g., old-age pensions and child
support grants) have the widest coverage of all of
these strategies, and the most significant impact
on health. Countries with strong social grant systems have been shown to have better population
health (Lundberg 2007 quoted in WHO 2008,
1 Food insecurity can be defined as the lack of access to
food, adequate in quantity and quality, to fulfill all nutritional requirements for all household members throughout the year (Jonsson and Toole 1991).
pp. 9092) and the nutritional status of children

has shown to be improved in households which
receive an old-age pension (WHO 2008, pp.87
89). In South Africa, social grant spending has increased massively since the advent of democracy
in 1994 (Friedman and Bhengu 2008, p.108), and
although it is debatable as to whether the levels of
poverty in the country have decreased since that
time (du Toit 2005), it seems that the percentage
of children living in poverty in the country has
decreased from 43% to 34%, and the percentage
of children living in ultra poverty from 13% to
4% (Rispel etal. 2009).
10.3.2TB Vaccine (Table10.3)

The only vaccine currently in use against TB, the
Bacille Calmette-Guerin (BCG) vaccine, was discovered approximately 100 years ago (Hawkridge
2009). This vaccine does not prevent infection
with MTB. It is for this reason that new vaccines
against TB are currently being researched, with
the possibility of the licensing of a new vaccine
in 2015 (Hussey et al. 2007). However, even if
a new and effective vaccine is produced, it may
not be accessible by the very people who need
it most. Vaccine coverage in developing countries, and in poor areas of developed countries,
may be low, due to large distances from the home
to the clinic, inability to meet the costs of travel
to the clinic (Ndirangu etal. 2009), and conflict
situations in the region (Mashal etal. 2007). It is
thus important that, even in the presence of an
effective, safe, and affordable vaccine, additional
measures be put in place to assist children to access immunization, particularly in contexts of
poverty and/or conflict (Table10.3).
10.3.3Prevention and Treatment of

HIV Infection
A further factor affecting the rate of exposure of
children to TB, and the development of infection
as a result of this exposure, is the prevalence of
HIV in the population, and the presence of HIV
infection in the child. Infection with HIV results
198
E. Walters et al.
Table 10.3 Factors contributing to TB disease susceptibility

Host factors
Pathogen factors
Primary immune-deficiency
Immunity
Bacillary load
Secondary immune-deficiency:
HIV infection
Young age
Recent measles infection
Chronic medication: steroids,
TNF blockers
Diabetes mellitus
Protein-energy malnutrition
Malnutrition
Strain/virulenceb
Vitamin A deficiency
Drug
susceptibility
Vitamin C deficiency
Vitamin D deficiencya
Missed BCG vaccination
Lack of
prevention
Missed IPT
Genetic
predisposition
HIV-related chronic lung disease
Chronic lung
disease
BPD
CF
Postmeasles and pertussis
Prolonged exposure
Contact with adult with cavitatory disease (pulmonary TB with lung cavities,
in which TB bacilli actively multiply
and can be coughed up)
No preventive strategy for contacts of

drug-resistant TB cases
BCG bacille calmette guerin; BPD broncho-pulmonary dysplasia; CF cystic fibrosis; IPT isoniazid preventive therapy;
TNF tumor necrosis factor;
a Scientific evidence inconclusive but suggestive
b No scientific data, requires further study
in a higher risk of TB infection and disease in

both adults and children, and the prevention and
treatment of HIV in both the adult and childhood population is a critical factor in reducing
the incidence of TB. Adults infected with HIV
are more likely to develop TB and transmit the
disease to children, and children infected with
HIV are more likely to become infected with TB
after exposure, and to develop TB disease (Martinson etal. 2009). HIV-infected infants under 12
months of age have a 24-fold increased risk of
developing TB (Hesseling et al. 2009b). Therefore, it is just as important that adults and children be treated for HIV as TB. It is also crucial
to prevent the spread of HIV in the population,
in adults through the conventional abstain, be
faithful, condomise approach and in children
through the prevention of mother-to-child transmission (PMTCT) of HIV. To adequately achieve
all these outcomes, health systems must provide
HIV prevention support and treatment for HIV
infection to all eligible patients, and patients
must adhere to the treatment programs. In addi-
tion, HIV and TB services need to be integrated

in order to optimally manage patients with dual
infection. WHO recommends that all patients
with HIV be screened for TB before starting antiretroviral therapy. Conversely, all patients with
TB should be offered HIV testing (WHO 2010b).
10.3.3.1Prevention of HIV Infection

in Children
In low- and middle-income countries, only 26%
of pregnant women had an HIV test to determine
their status in 2009. Worldwide, 53% of HIV-positive women receive interventions to prevent transmission of HIV to their children (WHO 2010a).
If no preventive measures are put in place, 20
35% of children born to HIV-positive mothers
will become infected in the perinatal period or
during breastfeeding (Del Fraissy et al. 1992;
Ryder et al. 1989). A well-functioning PMTCT
program can reduce this risk to <5% (Becquet
et al. 2009). The new interventions now employed are more likely to be the more efficacious
regimens than the single-dose nevirapine (WHO
2010). However, the low proportion of women

in less developed countries who gain entry to the
PMTCT program through an HIV test means that
an unnecessarily high number of infants in these
countries will become infected with HIV, and so
vulnerable to TB.
PMTCT is a comprehensive plan that covers
the entire time span from conception to the time
of weaning. As new and more effective preventative measures are discovered through research,
PMTCT programs need to be revised, updated,
and made affordable to developing countries.
Other interventions that reduce the transmission of HIV to babies and infants should also
be included in the care of HIV-infected mothers. These would include appropriate and timely
antiretroviral treatment for the mother, reduced
interventions during labor and caesarian sections where possible. Exclusive formula feeding, taking into account the higher mortality in
non-breast-fed babies mainly secondary to diarrheal and respiratory illnesses, should be encouraged where feasible, accessible, and affordable
(Coovadia etal. 2007).
ARV prophylaxis should be administered
to all HIV-exposed infants postnatally. Current
guidelines recommend giving HIV-exposed
infants 728 days of postnatal antiretrovirals
(Becquet etal. 2009). Recent research studies in
which extended prophylaxis was given to either
mothers or infants to cover the entire period of
breastfeeding have shown up to 70% reduction
in vertical HIV transmission (Shapiro etal. 2010;
Chasela et al. 2010). Although these regimens
carry a potential risk of developing drug resistance, it is hoped that the number of children that
would become infected despite prevention, and,
in addition, develop viral resistance and require
second-line antiretroviral therapy (protease inhibitors) would be small. Maternal consequences
of extended postnatal ARVs (drug resistance, adverse drug effects) require further study.
10.3.3.2Treatment of HIV Infection in

Adults and Children
Approximately 33 million people are currently
living with HIV worldwide. The scale of the
epidemic alone poses considerable challenges for
199
health services. HIV testing has increased worldwide with more people becoming aware of their
status, but in some countries, most notably in
Africa, the number of people who are tested and
know their status remains low (WHO 2010a).
Even among patients who are tested for HIV,
many may not remain within the program to receive their CD4 results. For example, in a South
African setting, only half of the patients who
were eligible for ART returned to receive their
CD4 results (Larson et al. 2010). Infected individuals who do not access treatment are likely to
spread both the HI virus as well as TB, a frequent
coinfection. Indeed, 1.4 of the 9.4 million new
cases of TB in 2008 occurred in people who were
infected with HIV (WHO 2010a). TB infection
is an important entry point for HIV testing and
although counseling and testing for HIV among
TB patients is increasing worldwide, it remains
low; only 22% of TB patients had been tested for
HIV in 2008 (WHO 2010a). Antiretroviral treatment for patients with TB similarly is low, as is
the use of isoniazid prophylaxis for patients with
HIV (WHO 2010a).
Highly active antiretroviral therapy (HAART)
has significant benefits for both adults and children both in terms of prognosis with HIV, and
in terms of TB infection and disease. Early ARV
therapy to infants reduces mortality and prevents
rapid decline in CD4 counts (Violary etal. 2008),
which is associated with increased susceptibility
to TB. Antiretroviral therapy is probably the most
effective way of reducing TB incidence in HIVpositive children. A study in South Africa showed
that the incidence of TB was reduced by 70% in
children who were receiving HAART (Martinson
et al. 2009). There was a 12% reduction in the
risk of any form of TB for every month of treatment with HAART, and for every unit increase
in CD4 count, the risk of TB decreased by 0.4%
(Martinson etal. 2009). Starting HAART before
the first episode of TB is important as HIV-infected children are at risk of TB recurrence both
through reinfection and reactivation (Schaaf
et al. 2005). Continuity between pre- and postnatal services is therefore paramount to ensure
that HIV-exposed infants are tested early by HIV
DNA polymerase chain reaction (PCR), a test
200
that is specific, sensitive, and accurate. Antibody

testing is not adequate in children <18 months of
age and health authorities throughout the developing world should aim toward early PCR testing
of all infants. In addition, research into a quick,
accurate point-of-care diagnostic test for young
children should be a priority worldwide.
Although some countries have achieved universal access to antiretroviral treatment and interventions to prevent mother-to-child transmission of HIV, many have not (WHO 2010a). In
low- and middle-income countries, only 36% of
all patients have access to antiretroviral treatment
at CD4 counts of 350cells/mm3, and only 52%
at CD4 counts of 200cells/mm3 (WHO 2010a).
Among children younger than 15 years, only
28% have access to antiretroviral therapy (ART;
WHO 2010a). Poor access to health care limits
the numbers of patients who are tested for HIV
and TB and who receive treatment for these.
Among those who do have access to ART, adherence must be excellent in order to fully benefit
from the treatment and to reduce the risk of TB
infection and disease. After a year of treatment,
the average percentage of patients still on ART
in low- and middle-income countries in 2008
was 82% (WHO 2010a). However, poverty and
food insecurity undermine both adherence to
treatment and outcomes on treatment. Patients
have been shown to make impossible choices
in order to obtain and take their treatment, such
as borrowing, begging, and doing without other
necessities of life (Ware et al. 2009). Money
for transport to the clinic is considered an important factor in patients inability to attend the
clinic for their appointments and to collect their
medicines, with missed appointments leading to
missed doses (Tuller et al. 2009). Patients who
are food-insecure are also less likely to adhere
to treatment, have lower baseline CD4 counts,
incomplete virological suppression, and are less
likely to survive (Anema etal. 2009; Weiser etal.
2009). In the light of the effect of poor nutrition
on the incidence of TB, the importance of providing nutritional support to vulnerable populations
is highlighted, as is the need for accessible health
care resources.
E. Walters et al.
10.4 P
revention of Progression
from TB Infection to Disease
(Table10.4)
Children who have been infected with the TB bacillus constitute a vulnerable group at high risk of
progression to disease. This risk is highest soon
after infection, and decreases with time (Marais
etal. 2004). Whereas adults have a uniform 10%
lifetime risk of developing TB disease after infection (Bloom and Murray 1992; Vynnycky and
Fine 2000), except in the case of HIV coinfection where the risk rises to 10% per year (WHO
1999a), the risk of progressing to disease varies in children, primarily dependent on age and
immune status. Therefore, certain categories of
children are at particularly high risk of progression, and merit prompt identification and preventive measures to halt this process.
A comprehensive set of factors that contribute
to TB disease susceptibility is given in Table10.3.
The most important factors and strategies to address these are discussed in detail below.
10.4.1 Age-Dependent Needs

Young children <2 years of age have the highest risk of developing disease after infection. Up
to 50% of infants <1 year and 25% of children
<2 years progress to active disease once infected
(Marais etal. 2004). Studies have shown that infants have deficient macrophage activity and immature T cell immunity (Lewinsohn etal. 2004),
which reduce their ability to contain infection by
the TB bacillus. It is important that young children in contact with a known adult TB case are
rapidly identified and administered Isoniazid
Preventive therapy (IPT). These children should
be followed up closely and monitored for the development of symptoms of TB as this group is
also highly susceptible to rapid progression to
severe forms of the disease.
Perinatal TB constitutes a particularly aggressive form of TB. Even if treated, mortality can
reach up to 60% in situations of delayed diagnosis, prematurity, or HIV coinfection (Whittaker and Kampmann 2008). Diagnosis is often
201
Table 10.4 Strategies to prevent progression from MTB infection to disease

Age-dependent needs
Infants
Adolescents
HIV infection
Comprehensive PMTCT programs
HIV-infected children
Screen all pregnant women in high TB-burden settings for TB at each antenatal
visit
All neonates should receive BCG vaccination. Exception: HIV-infected infants
Investigate all infants with symptoms suggestive of TB or with nonresolving
pneumonia
See prevention issues below. All TB-exposed and infected infants should
receive IPT. Infants on IPT need close follow-up for adherence and symptom
monitoring
Consider IPT in TB-endemic areas
No newborns symptomatic of HIV infection or HIV-infected infants should
receive BCG
Early HAART, especially in TB-endemic areas
IPT if in contact with known adult TB case, regardless of childs age
Universal IPT to all HIV-infected infants and children in high TB-burden areas
Prevention issues
Implement and enforce a national IPT program
Screen young children (<5 years) in contact with known adult TB case. If not
diseased, administer IPT under directly observed therapy
Children receiving IPT should be entered in a prophylaxis register and monitored closely for TB symptoms. Health status, adherence and completion of
IPT should be documented
Nutrition
Maternal education around adequate and appropriate age-dependent nutrition
Subsidized nutrition supplementation programs for undernourished children
Correct use of RTHC and early identification of underweight
Early intervention for moderate malnutrition (underweight-for-age)
Fortification of staple foodstuffs with trace elements, vitamins, and minerals
Vitamin A supplementation programs
? Vitamin D supplementation for vulnerable age groups
Research needs
Prevention
Improve diagnosis
Develop a more effective TB vaccine, safe for HIV-infected children

Research markers of lasting TB immunity
Define role of primary IPT in HIV-infected children from high TB-burden
settings
Investigate best prophylaxis regimens for children in contact with MDR/XDR
cases
Develop shorter TB prophylaxis regimens
Research role of IPT in adolescents living in TB-endemic areas
Develop new tests to identify recent TB infection
Research markers to distinguish TB infection from disease
Improve diagnostic tools:
Refine currently available tools
Develop new tools with improved sensitivity and specificity
Research role of immune modulation as an intervention to prevent

TB infection and disease, e.g., role
of Vitamin D
BCG bacille calmette guerin; HAART highly active antiretroviral therapy; IPT isoniazid preventive therapy;
MDR multi-drug resistant; PMTCT prevention of mother-to-child transmission; RTHC road-to-health card; XDR
extremely drug resistant
202
delayed because of lack of clinical suspicion and

of enquiry around maternal health status. TB
screening should form an integral part of antenatal services in areas of high TB prevalence. A
nonresolving pneumonia in an infant should always prompt TB investigation in these areas.
At the other age extreme, adolescents demonstrate increased vulnerability to reactivation or
adult-type disease (Marais et al. 2004). Adolescents are also a neglected group in high diseaseburden settings (Bennett and Eisenstein 2001;
Ferrand et al. 2010). The paucity of dedicated
adolescent clinics translates in these individuals
having to make use of adult services, which are
not sensitive to the adolescents particular needs.
This can contribute to late diagnosis and poor adherence to therapy. The equitable distribution of
health care resources should include provision for
separate facilities for the adolescent population.
10.4.2Immune Deficiency
In Southern Africa, HIV infection has created a
large pool of children with impaired immunity.
Specifically, the destruction and defective function of CD4 T cells characteristic of HIV infection greatly increases susceptibility to mycobacterial infection and disease (Sonnenberg et al.
2005). Studies have documented a TB incidence
of up to 50% in HIV-positive children in high
TB-burden countries (Walters etal. 2008).
While being at greater risk of developing TB
disease, the diagnosis of TB in HIV-infected children poses significant challenges. HIV infection
and TB present with similar constitutional symptomsprolonged fever, poor weight gain/weight
loss, as well as generalized lymphadenopathy and
hepatosplenomegaly. Tuberculin skin test (TST)
is less sensitive in the presence of HIV infection.
In addition, the frequency of respiratory coinfections and chronic lung disease make the interpretation of signs, symptoms, and chest radiography
difficult. As a result, HIV-infected children are in
danger of under- and overdiagnosis, both situations carrying potentially grave consequences for
the child.
E. Walters et al.
Numerous strategies have proven efficacy in

reducing the impact of HIV infection on the TB
epidemic, but they all require committed policy
makers at a national and local government level,
and a well-coordinated service for maternal and
child health. PMTCT and ART in children have
been discussed above.
IPT is another effective strategy to prevent
HIV- positive children from progressing from infection to disease (IUAT 1982). (Also see below:
Preventative therapy). Isoniazid (INH) should
be administered to all HIV-infected children in
close contact with a known adult TB case irrespective of age. Unlike HIV-infected adults, there
is insufficient evidence to recommend primary
INH to all HIV-infected children with low CD4
counts living in TB-endemic areas. In a large
prospective childhood trial from South Africa,
primary INH was associated with reduced TB
incidence and all-cause mortality, but the precise
mechanism underlying the latter effect remains
unclear and warrants further studies (Zar et al.
2007). Most of the children in this study were
not receiving HAART. A more recent study of
primary INH prophylaxis to HIV-positive children, carefully screened for TB exposure, most of
whom were on HAART, showed no benefit over
placebo (Madhi etal. 2008).
10.4.3Preventative Therapy
10.4.3.1Vaccine
BCG vaccine is moderately effective in preventing disseminated forms of TB in children, such
as miliary and central nervous system (CNS) TB.
However, it does not protect against the development of pulmonary TB (Lambert etal. 2009). In
addition, the safety of BCG in malnourished and
immune-suppressed children has recently been
questioned (Udani 1990; Hesseling etal. 2006).
Despite the limited efficacy of BCG, it is crucial that newborns living in TB-endemic areas
receive the vaccine in order to reduce the risk
of severe forms of childhood TB. Premature and
low birth weight babies requiring prolonged hospital stay are at risk of missing BCG vaccination
due to oversight: a system should be in place to
203
ensure that such infants receive the vaccination

before discharge from the health facility.
HIV-infected children pose a particular problem, as they are simultaneously more susceptible
to TB, but also at risk for the development of serious vaccine reactions to BCG (Hesseling etal.
2009a). In addition, the efficacy of BCG vaccination in HIV-infected children has not been
thoroughly studied and has recently been questioned, as HIV-infected children continue to experience disproportionate morbidity and mortality from TB despite vaccination, compared with
their uninfected peers (Hesseling et al. 2009a).
These findings have led the WHO to listing HIV
infection as an absolute contraindication to BCG
vaccination. However, current WHO guidelines
continue to advocate immunization with BCG to
all infants where HIV status is not determined, as
it is practically very difficult to determine HIV
status in the early neonatal period (WHO 2007).
It is evident that the development of a new, more
effective, and safe TB vaccine should be prioritized, in order to protect this vulnerable population. Once again, accessibility of a new vaccine
to needy populations must be ensured.
10.4.3.2Isoniazid Preventive Therapy

(IPT)
Young children <5 years of age, and all HIV-infected children in contact with adults with PTB,
are at high risk of infection and progression to
severe disease. IPT taken daily for 6 months is an
effective measure to prevent TB disease in child
contacts of adult cases (IUAT 1982). However,
the implementation of IPT in resource-limited
settings presents numerous operational difficulties. Studies from developing countries concur
in their observation that uptake of IPT in these
settings is poor, mainly due to lack of human
resources for contact tracing and monitoring.
Only 1020% of child contacts eligible for IPT
are traced and commence prophylactic therapy
(Claessens etal. 2002; Van Wyk etal. 2010). In
addition, adherence to 6 months of prophylaxis
is uniformly low. The WHO recommends setting up a prophylaxis register for recording and
monitoring of these cases, and advocates that the
health care worker involved with the source case
also be responsible for the tracing and manage-
ment of close child contacts (WHO 2006). Practically, this remains challenging as any one health
worker usually oversees the treatment of a large
number of TB cases and finding all the close contacts, in a setting where informal housing, overcrowding, and population mobility is prevalent,
can be a nearly unachievable task. A solution may
be to involve community volunteers to help with
contact tracing and the overseeing of treatment.
In the absence of more resources and enthusiasm to address TB prevention, children will continue to suffer from preventable TB.
10.4.4Malnutrition
As previously discussed, TB and malnutrition go
hand-in-hand. It is established that TB contributes to malnutrition via a number of mechanisms
(Macallan 1999). The inversemalnutrition
being a predisposing factor for the development
of TB disease after infectionhas not been proven conclusively. A few wartime epidemiological
studies suggest that reduction of protein and calories from diets during that time caused the prevalence of TB to escalate, whereas dietary supplementation with the same nutrients resulted in a
significant reduction in incident TB (Cegielski
and McMurray 2004). In vitro and animal studies also demonstrate the adverse effect of protein
restriction and deficiencies of vitamins A, C, and
D on the immune mechanisms important for the
containment of TB (Cegielski and McMurray
2004. Although childhood studies are lacking, it
is plausible to believe that protein malnutrition
and vitamin deficiencies are likely to potentiate
the immunological deficiencies inherently present in this population and contribute to susceptibility to clinical disease after infection. Strategies
to improve nutrition in underprivileged populations have been discussed above.
10.5Prevention of Serious sequelae

of TB Disease
Children with TB have a favorable prognosis if
the disease is diagnosed in the early stages, if
they are administered adequate drugs and are
204
ensured good adherence. However, in underresourced areas there are many barriers that prevent
this from being achieved.
10.5.1Disease to Diagnosis
10.5.1.1Development of Symptoms to
Clinical Investigation
The symptoms of TB are dependent on the organ
involved. The symptoms are very nonspecific
and overlap with many other diseases, especially
in children who are dually infected with HIV and
TB. The most common general symptoms are
fever, lethargy, and weight loss, while the most
common organ-specific symptom is persistent
cough lasting more than 2 weeks. The nonspecific presentation of TB contributes to the delay
in the recognition of this disease. In South Africa,
children with TB had symptoms for a mean of 4.3
weeks before presenting to a health care center,
but it took an additional 5 weeks before the staff
at the center made the diagnosis. The delay was
the longest due to doctor delay before notification and initiation of treatment (Beyers et al.
1994). In this article, doctor delay was the time
from presentation at the clinic until the doctor
started investigating the child for possible TB.
Similarly, in a Malawian study of 659 hospitalized patients with smear-positive TB, only 12%
of their young children were screened for TB
(Claessens et al. 2002). From data like these it
is clear that children are not regarded as being at
risk for developing TB or suffering from TB even
in high-burden countries where TB is endemic.
The recognition of TB is further complicated
by the fact that TB can be the causative organism
in 7% of young and immune-suppressed children
presenting with acute pneumonia (Zar 2004).
This fact is poorly recognized, as has been shown
in a hospital-based study where TB was either
the second or third commonest cause of death
for children of all ages hospitalized for pneumonia. Death from unrecognized TB pneumonia
was more common in HIV-uninfected children
than HIV-infected children (Chintu etal. 2002).
Another group of children requiring special attention are newborn infants, where TB is not
E. Walters et al.
thought of or recognized as a disease even when

the mother has a chronic cough or suspected TB
(Heyns etal. 2006).
10.5.1.2Presentation with Symptoms to

Diagnosis
The symptoms of childhood TB are often nonspecific and commonly overlap with other childhood
diseases. In middle- and low-income countries
where there is a high prevalence of adult HIV
infection, infants and children are often infected
with HIV by vertical transmission. These children
develop HIV-related lung disease, which shares
the same nonspecific symptoms with pulmonary
TB, while cervical lymph gland enlargement
commonly occurs in both HIV and TB. This situation is further complicated by the HIV-infected
childs vulnerability to develop TB even after the
initiation of highly active antiretroviral therapy.
Special Forms of TB Common in Children
Approximately 20% of children present with
forms of TB other than pulmonary TB. The commonest forms are cervical and abdominal lymph
gland enlargement. TB meningitis is a less common form of TB that is often diagnosed after the
child has developed extensive neurological disease and is often irreversible even with treatment.
Prevention of lifelong neurological incapacity is
only achieved if the TB meningitis is identified
early in its clinical course and treatment is started
promptly. TB meningitis is often not clinically
recognized during the early phase and effective
treatment is delayed, leading to death or severe
neurological disability.
Special Investigations to Diagnose TB
in Children
Not only is the diagnosis of TB complicated by
overlapping symptomatology but also by the
poor diagnostic yield and performance of special
investigations available for the diagnosis of TB
in children. The tools available to diagnose TB
in children have been available for more than a
century: the tuberculin skin test (Mantoux skin
test), chest radiograph, and culture of the TB
bacilli. These century-old tests are fraught with
imprecision:
1. Tuberculin skin tests (TST):

The tuberculin skin test is widely used to diagnose TB infection in children. However,
this test only identifies approximately 60% of
children diagnosed with TB and has both high
false positive and false negative rates, leading
to both the overdiagnosis and underdiagnosis
of TB in children. The most common TST
used is the Mantoux skin test but, in common
with all forms of TST, lacks both sensitivity
and specificity especially in areas where BCG
vaccine coverage is high. New tests have been
developed to replace TST that are not influenced by BCG and rely on the response of
circulating lymphocytes to TB antigens: Interferon Gamma Release Assays (IGRA). These
tests are widely propagated in industrialized
countries but there are little data to support
their use in children, particularly in countries
with a high HIV prevalence. It is especially in
these countries that the diagnosis of TB infection in children needs to be specific enough to
either confirm the diagnosis of TB in order to
initiate treatment, or to signify simple infection and thus be an indication of the need for
TB preventative therapy. It is clear that better
tests need to be developed to accurately diagnose TB infection in children.
2. Chest radiography:
The chest radiograph (CXR) is the most widely used special investigation to diagnose TB
in children in spite of its many limitations. A
technically acceptable CXR in a young child
is a challenging task and requires a welltrained radiographer. The findings of different radiologists correlate poorly, indicating
the difficulty in interpreting the radiographs
of children suspected of having developed TB
(Swingler etal. 2005). The usefulness of this
tool is further reduced by the limited access
to chest radiographs and radiologists in lowincome countries.
3. MTB cultures:
The majority of children suffer from paucibacillary TB, which together with the difficulty
in collecting sputum samples especially from
young children, makes the diagnostic yield of
cultured MTB low in children. For this reason,
205
gastric aspirates are used to collect swallowed

sputum samples. This technique is invasive,
unpleasant, and has a reported diagnostic yield
of 2030%. Although cultures obtained from
selected patient populations (with advanced
disease) by experienced clinical staff have been
reported to reach a positivity rate of over 60%
(Marais 2006b), this is still far from achieving
the status of gold standard.More recently,
hypertonic saline-induced sputum has been
used to collect sputum samples in children of
all ages (Zar et al. 2005). This technique has
not substantially improved the diagnostic yield
but has made the collection of samples more
feasible. With new PCR-based diagnostic techniques becoming available to diagnose TB (including drug-resistant TB), the importance of
new collection techniques becomes imperative.
If the question of optimal specimen collection
is not solved or if new diagnostic techniques
are not developed, a gold standard for the diagnosis of TB will remain elusive, hampering
both research and treatment of childhood TB.
Clinical scoring methods, which combine
clinical signs and symptoms with the various
diagnostic modalities, are employed in many
developing countries in order to facilitate diagnosis of pediatric TB. However, these tools have
limited utility, as the definitions used are not
standardized, and they are not validated by prospective studies (Hesseling etal. 2002). Recently, a simple method of combining well-defined
symptoms showed good sensitivity and specificity among HIV-uninfected children older than
3 years (low-risk group), but performed poorly
in children younger than 3 years and in HIVinfected children of any age (high-risk group). Of
particular interest is that TST added little value to
the diagnosis in the low-risk group, but improved
the accuracy of the diagnostic tool in children <3
years, although its sensitivity in this group remained low (Marais 2006a).
From the above it is clear that the diagnosis of
childhood TB remains challenging in the face of
the diversity of pediatric populations, the limited
accuracy of available tools and the difficulty in
obtaining culture confirmation (i.e., the effective
absence of a gold standard). New diagnostic tests
206
that can rapidly diagnose TB infection and disease in children are urgently needed. At present
most approaches are concentrating on the diagnostic needs of the adult forms of TB and are not
taking the needs of children into account during
their stages of development.
10.5.2Diagnosis to the Initiation of

Treatment
10.5.2.1Drugs, Drug Dosages, and
Child-Friendly Treatment
The drugs routinely used in the treatment of TB
were discovered more than 50 years ago with no
new drugs available for routine treatment on the
horizon. There are many reasons for the lack of
new drugs. First, pharmaceutical companies see
very little profit in investing in TB as the majority suffering from TB lives in low-income countries where little profit is to be made from new
drugs. This is illustrated by the fact that 95% of
children suffering from TB live in the 22 highburden countries, all without exception being
middle- to low-income countries, further limiting profits. Lastly, the annual market for childhood TB treatments is presently calculated to be
little more than 250,000 treatments per annum. In
many parts of the world, there are very few childfriendly TB drugs. The crushing of adult tablets
results in inaccurate dosing and forces children to
ingest unpalatable adult drugs to treat their TB.
Although isoniazid is the mainstay of childhood TB treatment, its pharmacokinetics have
been poorly studied over the past 50 years.
Only recently has this area has been systematically researched. The research demonstrates that
over the decades children have been underdosed
(McIlleron et al. 2009). In the under 2-year
age group, where there is the greatest change
in pharmacokinetics of drugs over time, there
is a paucity of data, making it very difficult to
propose treatment dosages with any precision.
Many preterm neonates, especially those born
to HIV-infected mothers, are at increased risk of
being exposed to TB. They require either treatment for disease or chemoprophylaxis to prevent
E. Walters et al.
disease but the data to guide correct dosing are

completely lacking and the risk of developing
adverse effects unknown. This absence of data
is not unique to isoniazid, but common to all TB
drugs and antiretrovirals. Optimal dosages as
well as duration of treatment are yet to be determined for children.
Randomized controlled drug trials to determine the best treatment regimes in children with
serious life-threatening TB are lacking and unlikely ever to be undertaken due to the costs and
poor return on investment. This is in common
with other orphan diseases in children, but the
commitment to investigate diseases that commonly occur in poor-income countries is also
lacking. It has recently been proposed that the
outcome of randomized controlled trials in adult
patients be accepted and that the dosages in children be adjusted according to pharmacokinetic
studies in adults. This approach might be practical and cost-effective, but could compromise the
care of children.
10.5.2.2Adherence to Treatment
Children are dependent on their caregivers to
ensure adherence to treatment. Children with
diseases that are not life-threatening are less
likely to complete treatment. Treatment completion rates of children who started TB therapy
were only 40% in Malawi (Harries etal. 2002),
while in South Africa only 25% of children
placed on preventative therapy completed the
recommended 6 months (Van Zyl et al. 2006).
This is especially tragic as treatment success
exceeds 95%.
10.5.3Outcome on Treatment
The outcome from treatment is highly dependent on the clinical form of TB, with TB meningitis having a high morbidity in the majority of
cases even when highly developed medical care
is available. Novel basic and clinical research is
urgently needed to improve the outcome of all
children suffering from these severe forms of
TB. However, this research is unlikely to occur
as severe TB hardly ever occurs in high-income
countries and the resources to fund this form of

research are unlikely to be made available.
10.6Recommendations
The health care needs of children from TBendemic areas are diverse. The low IPT uptake
and the underrecognition and underdiagnosis
of childhood TB are markers of failing health
systems.
Health care facilities and services to children
need to receive urgent attention.
In the field of prevention, the lack of effective prophylaxis following exposure (vaccine)
and the poor implementation of postexposure
prophylaxis (IPT), result in large number of
children unnecessarily developing infection
and disease.
Health care staff need to be motivated and
educated on the importance of disease prevention, especially in preventing HIV infection.
Operational research should identify and rectify the obstacles, which currently prevent the
effective implementation of IPT.
Resources should be directed toward the
establishment of a system of effective contact
tracing, accurate record-keeping of IPT recipients, early diagnosis of TB disease in children,
and increased case holding.
Vaccine research is currently underway. Global
vaccine initiatives, as well as local research
and medical bodies, should be involved to
ensure that progress continues rapidly, that
trials are conducted among needy populations
and that the latter benefit from new and effective vaccines through early subsidization of
roll-out costs.
In the field of diagnostics, more rapid and sensitive diagnostic tests for pediatric TB need to
be developed. Laboratory services, including
infrastructure as well as technical expertise
and regular quality control, are in urgent need
of upgrading in most resource-limited areas.
Shorter treatment durations for specific disease manifestations should be investigated.
Child-friendly, palatable drug formulations,
particularly for the treatment of MDR TB, are
207
also a priority and will positively impact on

adherence.
The important role of infection control on an
individual and systems level has been largely
neglected and requires dedicated resources
and commitment for implementation.
There needs to be better integration of health
services caring for children in developing
countries, particularly of perinatal and maternal services, well-baby clinics and services
addressing HIV and TB.
The child living in a setting of high TB burden
is vulnerable from before birth because of the
very nature of the area into which she/he is
born. No number of scientific advances will
help this child if these are, first, implemented
in isolation without addressing the numerous
socioeconomic determinants of the disease,
and, second, if they are not made accessible
to the child.
A comprehensive approach requires collaboration between international bodies and local
governance to make resources available for the
upliftment of poorer communities and to direct
global funding equally to the development of
novel diagnostic and therapeutic strategies, as
to their delivery and implementation in these
underresourced areas. Partnerships among the
many sectors of government, in particular health,
education, housing, water and sanitation, social
development, and labor are necessary in order
to achieve TB control, and perhaps even eradication. The involvement of civil society and organizations championing the rights of the child
is paramount to ensuring that the numerous role
players are accountable and continue to move toward the attainment of this common goal.
In this chapter, we have used childhood TB
as a marker of the special needs of children in
low- and middle-income countries of the world.
On analysis of the studies, it is clear that health
care systems are failing children, that poverty is
increasing in the poorest parts of the world, and
that little effort is being directed to relieve the
plight of children suffering as a result of these
circumstances. Relieving this suffering requires
a concerted effort from local, national, and international communities, to focus on childhood
208
diseases, child-friendly diagnostics, and new

therapeutics, in order to diagnose and treat diseases common in children living in low-income
countries. These diseases will not be controlled
if the socioeconomic conditions in which these
children live are not concomitantly addressed.
References
Academy of Sciences of South Africa. (2007). HIV/
AIDS, TB and nutrition. http://www.assaf.co.za/
wpcontent/uploads/reports/evidence_based/3060%20
ASSAf%20HIV%20TB%20and%20Nutrition.pdf.
Accessed 12 Oct 2010.
Anema, A., Vogenthaler, N., Frongillo, E. A., Kadiyala,
S., & Weiser, S. D. (2009). Food insecurity and HIV/
AIDS: Current knowledge, gaps and research priorities. Current HIV/AIDS Reports, 6(4), 224231.
Aye, R., Wyss, K., Abdualimova, H., & Saidaliev, S.
(2010). Household costs of illness during different phases of tuberculosis treatment in Central Asia:
A patient survey in Tajikstan. BMC Public Health,
18(10), 18.
Bates, I., Fenton, C., Gruber, J., Lalloo, D., Lara, A. M.,
Squire, S. B., Theobald, S., Thomson, R., & Tolhurst,
R. (2004). Vulnerability to malaria, tuberculosis, and
HIV/AIDS infection and disease. Part 1: Determinants
operating at environmental and institutional level. The
Lancet Infectious Diseases, 4(6), 368375.
Becquet, R., & Ekouevi, D. K., Arrive, E., etal. (2009).
Universal antiretroviral therapy for pregnant and
breastfeeding HIV-1-infected women: Towards elimination of mother-to-child transmission of HIV-1 in
resource-limited settings. Clinical Infectious Diseases, 49, 19361945.
Bennett, D. L., & Eisenstein, E. (2001). Adolescent health
in a globalized world: A picture of health inequalities.
Adolescent Medicine, 12(3), 411426.
Beyers, N., Gie, R. P., Schaaf, H. S., van Zyl, S., Nei, E.
D., Talent, J. M., & Donald, P. R. (1994). Delay in the
diagnosis, notification and initiation of treatment and
compliance in children with tuberculosis. Tuberculosis
Lung Disease, 75, 260265.
Bloom, B. R., & Murray, C. J. (1992). Tuberculosis: Commentary on a re-emergent killer. Science, 257(5073),
10551064.
Blssner, M., & de Onis, M. (2005). Malnutrition: Quantifying the health impact at national and local levels.
WHO environmental burden of disease series, no.12.
Geneva: World Health Organization.
Cegielski, J. P., & McMurray, D. N. (2004). The relationship between malnutrition and tuberculosis: Evidence
from studies in humans and experimental animals.
International Journal of Tuberculosis Lung Disease,
8(3), 286298.
E. Walters et al.
Chasela, C. S., Hudgens, M. G., Jamieson, D. J., Kayira,
D., Hosseinipour, M. C., Kourtis, A. P., Martinson, F.,
Tegha, G., Knight, R. J., Ahmed, Y. I., Kamwendo,
D. D., Hoffman, I. F., Ellington, S. R., Kacheche,
Z., Soko, A., Wiener, J. B., Fiscus, S. A., Kazembe,
P., Mofolo, I. A., Chigwenembe, M., Sichali, D. S.,
& Van Der Horst, C. M. (2010). Maternal or infant
antiretroviral drugs to reduce HIV-1 transmission. The
New England Journal of Medicine, 362, 22712281.
Chatterjee, P. (2009). Stretching the AIDS dollar. The Lancet, 374(9691), 678. doi:10.1016/
S0140-6736(09)61546-4I.
Chintu, C., Mudenda, V., Lucas, S., Nunn, A., Lishimpi,
K., Maswahu, D., Kasalo, F., Mwaba, P., Bhat, G.,
Terunuma, H., & Zumla, A. (2002). Lung diseases at
necropsy in African children dying from respiratory
illnesses: A descriptive necropsy study (2002). Lancet,
360(9338), 985990.
Claessens, N. J., Gausi, F. F., Meijnen, S., Weismuller, M.
M., Salaniponi, F. M., & Harries, A. D. (2002). Screening of childhood contacts of patients with smear positive pulmonary TB in Malawi. International Journal
of Tuberculosis Lung Disease, 6(4), 362364.
Colvin, M., Gumede, L., Grimwade, K., & Wilkinson, D.
(2001). Integrating traditional healers into a tuberculosis control programme in Hlabisa, South Africa
(MRC Policy Brief No. 4, 2001). Hlabisa: MRC.
http://www.mrc.ac.za/policybriefs/tbtraditional.pdf.
Accessed 12 Oct 2010.
Coovadia, H. M., Rollins, N. C., Bland, R. M., Little,
K., Coutsoudis, A., Bennish, M. L., & Newell, M.
L. (2007). Mother-to-child transmission of HIV-1
infection during exclusive breastfeeding in the first 6
months of life: An intervention cohort study. Lancet,
369(9567), 11071116.
Davies, R. P. O., Tocque, K., Bellis, M. A., Rimmington, T., & Davies, P. D. (1999). Historical declines in
tuberculosis in England and Wales: Improving social
conditions or natural selection? International Journal
of Tuberculosis Lung Disease, 3(12), 10511954.
Day, C., Barron, P., Monticelli, F., & Sello, E. (Eds.).
(2009). The district health barometer 2007/2008. Durban: Health Systems Trust.
Del Fraissy, J. F., Blanche, S., Rouzioux, C., Mayaux, M.
J. (1992). Perinatal HIV transmission facts and controversies. Immunodeficiency Reviews, 3, 305327.
Donald, P. R. (2002). Childhood tuberculosis: Out of control? Current Opinion in Pulmonary Medicine, 8(3),
178182.
du Toit, A. (2005). Chronic and structural poverty in South
Africa: Challenges for action and research. PLAAS
chronic poverty and development policy series no.6.
Programme for land and Agrarian studies. School of
Government, University of the Western Cape.
Escombe, A. R., Oeser, C. C., Gilman, R. H., Navincopa,
M., Ticona, E., Pan, W., Martinez, C., Chacaltana, J.,
Rodriguez, R., Moore, D. A. J., Friedland, J. S., &
Evans, C. A. (2007). Natural ventilation for the prevention of airborne contagion. PLoS Medicine, 4(2), e68.

Escott, S., & Newell, J. (2007). Dont forget the bigger
picture: The impact of societal issues on a community
based TB programme, Swaziland. Journal of Health
Organization and Management, 21(6), 50618.
Ferrand, R., Lowe, S., Whande, B., Munaiwa, L., Langhaug, L., Cowan, F., Mugurungi, O., Gibb, D., Munyati, S., Williams, B. G., & Corbett, E. L. (2010).
Survey of children accessing HIV services in a high
prevalence setting: Time for adolescents to count?
Bulletin of the World Health Organization, 88(6),
428434.
Friedman, I., & Bhengu, L. (2008). Fifteen year review of
income poverty alleviation programmes in the social
and related sectors. Durban: Health Systems Trust.
Gie, R. P., Beyers, N., & Enarson, D. A. (2009). Epidemiology of childhood tuberculosis. In H. S. Schaaf & A.
Zumla (Eds.), Tuberculosis, a comprehensive clinical
reference. London: Saunders Elsevier.
Harries, A. D., Hargreaves, N. J., Graham, S. M., Mwansambo, C., Kazembe, P., Broadhead, R. L., Maher, D.,
& Salaniponi, F. M. (2002). Childhood tuberculosis in
Malawi: Nationwide case finding and treatment outcomes. International Journal of Tuberculosis Lung
Disease, 6(5), 424431.
Hawkridge, A. (2009). Clinical studies of TB vaccines.
Human Vaccines, 5(11), 773776.
Hesseling, A. C., Schaaf, H. S., Gie, R. P., Starke, J. R.,
& Beyers, N. (2002). A critical review of diagnostic
approaches used in the diagnosis of childhood tuberculosis. International Journal of Tuberculosis Lung
Disease, 6(12), 10381045.
Hesseling, A. C., Rabie, H., Marais, B. J. Manders, M.,
Lips, M., Schaaf, H. S., Gie, R. P., Cotton, M. F., van
Helden, P. D., Warren, R. M., & Beyers, N. (2006).
Bacille Calmette-Guerin vaccine-induced disease in
HIV-infected and HIV-uninfected children. Clinical
Infectious Diseases, 42(4), 548558.
Hesseling, A. C., Cotton, M. F., Jennings, T., Whitelaw,
A., Johnson, L. F., Eley, B., Roux, P., GodfreyFaussett, P., & Schaaf, H. S. (2009a). High incidence
of tuberculosis among HIV-infected infants: Evidence
from a South African population-based study highlights the need for improved tuberculosis control strategies. Clinical Infectious Diseases, 48, 108114.
Hesseling, A. C., Johnson, L. F., Jaspan, H., Cotton, M.
F., Whitelaw, A., Schaaf, H. S., Fine, P. E. M., Eley,
B. S., Marais, B. J., Nuttall, J., Beyers, N., & GodfreyFaussett, P. (2009b). Disseminated bacilli CalmetteGuerin disease in HIV-infected South African infants.
505511.
Heyns, L., Gie, R. P., Goussard, P., Beyers, N., Warren, R.
M., & Marais, B. J. (2006). Nosocomial transmission
of Mycobacterium tuberculosis in Kangaroo mother
care units: A risk in tuberculosis-endemic areas. Acta
Paediatrica, 95(5), 535539.
Humphreys, H. (2007). Control and prevention of healthcare-associated tuberculosis: The role of respiratory
isolation and personal respiratory protection. The
Journal of Hospital Infection, 66(1), 15.
209
Hussey, G., Hawkridge, T., & Hanekom, W. (2007).
Childhood tuberculosis: Old and new vaccines. Paediatric Respiratory Reviews, 8(2), 148154.
International Union Against Tuberculosis, Committee on
Prophylaxis. (1982). Efficacy of various durations of
isoniazid prevention therapy for tuberculosis: Five
years of follow-up in the IUAT trial. Bulletin of the
World Health Organization, 60, 555564.
Jonsson, U., & Toole, D. (1991). Household food security and nutrition: A conceptual analysis. New York:
UNICEF.
Lambert, P. H., Hawkridge, T., & Hanekom, W. A. (2009).
New vaccines against tuberculosis. Clinics in Chest
Medicine, 30(4), 811826.
Larson, B. A., Brennan, A., McNamara, L., Long, L.,
Rosen, S., Sanne, I., & Fox, M. P. (2010). Lost opportunities to complete CD4+ lymphocyte testing among
patients who tested positive for HIV in South Africa.
641716.
Lewinsohn, D. A., Gennaro, M. L., Scholvinck, L., &
Lewinsohn, D. M. (2004). Tuberculosis immunology
in children: Diagnostic and therapeutic challenges and
opportunities. International Journal of Tuberculosis
Lung Disease, 8(5), 658674.
Long, R. (2004). Tuberculosis and malnutrition. International Journal of Tuberculosis Lung Disease, 8(3),
276277.
Macallan, D. C. (1999). Malnutrition in tuberculosis.
Diagnostic Microbiology and Infectious Disease, 34,
153157.
Madhi, S. A., Nachman, S., Violari, A., Kim, S., Cotton,
M. F., Bobat, R., Jean-Phillippe, P., McSherry, G., &
Mitchell, C. (2008). Lack of efficacy of primary isoniazid (INH) prophylaxis in increasing tuberculosis (TB)
free survival in HIV-infected South African children.
Paper presented at the 48th annual ICAAC/IDSA 46th
annual meeting, October 2528, Washington, DC.
Marais, B. J., Gie, R. P., Schaaf, H. S., Hesseling, A. C.,
Obihara, C. C., Nelson, L. J., Enarson, D. A., Donald,
P. R., & Beyers, N. (2004). The clinical epidemiology of childhood pulmonary tuberculosis: A critical
review of literature from the pre-chemotherapy era.
International Journal of Tuberculosis Lung Disease,
8(3), 278285.
Marais, B. J., Gie, R. P., Hesseling, A. C., Schaaf, H. S.,
Lombard, C., Enarson, D. A., & Beyers, N. (2006a).
A refined symptom-based approach to diagnose pulmonary tuberculosis in children. Pediatrics, 118,
13501359.
Marais, B. J., Hesseling, A. C., Gie, R. P., Schaaf, H. S.,
Enarson, D. A., & Beyers, N. (2006b). The bacteriological yield in children with intrathoracic tuberculosis. Clinical Infectious Diseases, 42, e69e71.
Marais, B. J., Hesseling, A. C., Gie, R. P., Schaaf, H. S., &
Beyers, N. (2006c). The burden of childhood tuberculosis and the accuracy of routine surveillance data in a
high-burden setting. International Journal of Tuberculosis Lung Disease, 10(3), 25963.
210
Martinson, N. A., Moultrie, H., van Niekerk, R., Barry,
G., Coovadia, A., Cotton, M., Violari, A., Gray, G. E.,
Chaisson, R. E., McIntyre, J. A., & Meyers, T. (2009).
HAART and risk of tuberculosis in HIV-infected
South African children: A multi-site retrospective
cohort. International Journal of Tuberculosis Lung
Disease, 13(7), 862867.
Mashal, T., Nakamura, K., Kizuki, M., Seino, K., &
Takano, T. (2007). Impact of conflict on infant immunisation coverage in Afghanistan: A countrywide study
20002003. International Journal of Health Geographics, 7(6), 23.
McIlleron, H., Willemse, M., Werely, C. J., Hussey, G. D.,
Schaaf, H. S., Smith, P. J., & Donald, P. R. (2009).
Isoniazid plasma concentrations in a cohort of South
African children with tuberculosis: Implications for
international pediatric dosing guidelines. Clinical
Infectious Diseases, 48(11), 15471553.
McKeown, T., & Record, R. G. (1962). Reasons for the
decline of mortality in England and Wales during the
nineteenth century. Population Studies, 16, 94122.
Ndirangu, J., Barnighausen, T., Tanser, F., Tint, K., &
Newell, M.-L. (2009). Levels of childhood vaccination coverage and the impact of maternal HIV status
on child vaccination status in rural KwaZulu-Natal,
South Africa. Tropical Medicine & International
Health, 14(11), 138393.
Rispel, L. C., de Sousa, C. A., & Molomo, B. G. (2009).
Can social inclusion policies reduce health inequalities in sub-Saharan Africa? A rapid policy appraisal.
Journal of Health, Population and Nutrition, 27(4),
492504.
Russell S. (2004). The economic burden of illness for
households in developing countries: A review of
studies focusing on malaria, tuberculosis and human
immunodeficiency virus/acquired immunodeficiency
syndrome. The American Journal of Tropical Medicine and Hygiene, 71(2 Suppl.), 147155.
Ryder, R. W., Nsa, W., Hassig, S. E., Behets, F., Rayfield, M., Ekungola, B., Nelson, A. M., Mulenda, U.,
Francis, H., Mwandagalirwa, K., et al. (1989). Perinatal transmission of the human immunedeficiency
type 1 infection to infants of seropositive women in
Zaire. The New England Journal of Medicine, 320,
16371642.
Schaaf, H. S., Krook, S., Hollemans, D. W., Warren, R.
M., Donald, P. R., & Hesseling, A. C. (2005). Recurrent culture-confirmed tuberculosis in human immunodeficiency virus-infected children. The Pediatric
Infectious Diseases Journal, 24, 685691.
Shapiro, R. L., Hughes, M. D., Ogwu, A., Kitch, D., Lockman, S., Moffat, C., Makhema, J., Moyo, S., Thior, I.,
McIntosh, K., van Widenfelt, E., Leidner, J., Powis,
K., Asmelash, A., Tumbare, E., Zwerski, S., Sharma,
U., Handelsman, E., Mburu, K., Jayeoba, O., Moko,
E., Souda, S., Lubega, E., Akhtar, M., Wester, C.,
Tuomola, R., Snowden, W., Martinez-Tristani, M.,
Mazhani, L., & Essex, M. (2010). Antiretroviral Regimens in Pregnancy and Breastfeeding in Botswana. The
E. Walters et al.
Sonnenberg, P., Glynn, J. R., Fielding, K., Murray, J.,
Godfrey-Faussett, P., & Shearer, S. (2005). How soon
after infection with HIV does the risk of tuberculosis
start to increase? A retrospective cohort study in South
African gold miners. The Journal of Infectious Diseases, 191, 150158.
Spence, D. P. S., Hotchkiss, J., Williams, C. S. D., &
Davies, P. D. O. (1993). Tuberculosis and poverty. The
British Medical Journal, 307(6907), 759761.
Starke, J. R. (2002). Childhood tuberculosis: Ending the
neglect. International Journal of Tuberculosis Lung
Disease, 6(5), 373374.
Swart, R., Sanders, D., & McLachlan, M. (2008). Nutrition: A primary health care perspective. In: P. Barron & J. Roma-Reardon (Eds.), South African health
review 2008. Durban: Health Systems Trust.
Swingler, G. H., du Toit, G., Andronikou, S., Van Der
Merwe, L., & Zar, H. J. (2005). Diagnostic accuracy
of chest radiography in detecting mediastinal lymphadenopathy in suspected pulmonary tuberculosis.
Archives of Disease in Childhood, 90, 11531156.
Tuller, D. M., Bangsberg, D. R., Senkungu, J., Ware, N.
C., Emenyonu, N., & Weiser, S. D. (2009). Transportation costs impede sustained adherence and access
to HAART in a clinic population in Southwestern
Uganda: A qualitative study. AIDS and Behavior,
14(4), 778784.
Udani, P. M. (1990). Pediatric tuberculosis pyramid and
its fate with and without chemotherapy/chemoprophylaxis. Indian Journal of Pediatric, 57(5), 627637.
Van Wyk, S. S., Hamade, H., Hesseling, A. C., Beyers, N.,
Enarson, D. A., & Mandalakas, A. M. (2010). Recording Isoniazid preventive therapy delivery to children:
Operational challenges. International Journal of
Tuberculosis Lung Disease, 14(5): 650653.
Van Zyl, S., Marais, B. J., Hesseling, A. C., Gie, R. P.,
Beyers, N., & Schaaf, H. S. (2006). Adherence to
anti-tuberculosis chemoprophylaxis and treatment in
children. International Journal of Tuberculosis Lung
Disease, 10, 1318.
Vynnycky, E., & Fine, P. E. M. (2000). Lifetime risks,
incubation period, and serial interval of tuberculosis. The American Journal of Epidemiology, 152,
247263.
Violary, A., Cotton, M. F., Gibb, D. M., Babiker, A. G.,
Steyn, J., Madhi, S. A., Paed, F. C., Jean-Philippe, P.,
McIntyre, J. A., & F. R. C. O. G. for the CHER Study
Team. (2008). Early antiretroviral therapy and mortality among HIV-infected infants. The New England
Journal of Medicine, 359, 22332244.
Walters, E., Cotton, M. F., Rabie, H., Schaaf, H. S.,
Walters, L. O., & Marais, B. J. (2008). Clinical presentation and outcome of tuberculosis in human
immunodeficiency virus infected children on antiretroviral therapy. BMC Pediatrics, 8, 1.
Ware, N. C., Idoko, J., Kaaya, S., Biraro, I. A., Wyatt,
M. A., Agbaji, O., Chalamilla, G., & Bangsberg, D. R.
(2009). Explaining adherence success in sub-Saharan
Africa: an ethnographic study. PLoS Medicine, 6(1),
e11.

Weiser, S. D., Fernandes, K. A., Brandson, E. K., Lima,
V. D., Anema, A., Bangsberg, D. R., Montaner, J. S.,
& Hogg, R. S. (2009). The association between food
insecurity and mortality among HIV-infected individuals on HAART. Journal of Acquired Immune Deficiency Syndromes, 52(3), 342349.
Whittaker, E., & Kampmann, B. (2008). Perinatal tuberculosis: New challenges in the diagnosis and treatment of tuberculosis in infants and the newborn. Early
Human Development, 84, 795799.
Wood, R., Johnstone-Robertson, S., Uys, P., Hargrove,
J., Middelkoop, K., Lawn, S. D., & Bekker, L.-G.
(2010). Tuberculosis transmission to young children
in a South African community: Modeling household
and community infection risks. Clinical Infectious
Diseases, 51(4), 401408.
World Health Organization (WHO). (1999a). Preventive
therapy against tuberculosis in people living with HIV.
Weekly Epidemiological Record, 74, 385398.
World Health Organization (WHO). (1999b). Guidelines
for the prevention of tuberculosis in health care facilities in resource limited settings. Geneva: World Health
Organization (WHO/TB/99.269).
World Health Organization (WHO). (2006). Guidance for
national tuberculosis programmes on the management
of tuberculosis in children. Geneva: World Health
Organization.
World Health Organization (WHO). (2007). Revised
BCG vaccination guidelines for infants at risk for
HIV infection. Weekly Epidemiological Record, 82,
193196.
211
World Health Organization (WHO). (2008). Closing the
gap in a generation: Health equity through action on
the social determinants of health. Report of the commission on social determinants of health. Geneva:
World Health Organization.
World Health Organization (Epidemiology). (2009).
Global tuberculosis control 2009, epidemiology, strategy, financing. Geneva: World Health Organization.
World Health Organization (WHO). (2010a). Global
tuberculosis control: A short update to the 2009
report.
http://www.who.int/tb/publications/global_
report/2009/update/en/index.html. Accessed 20 Oct.
2010.
World Health Organization (WHO). (2010b). The global
plan to stop TB 20112015. Geneva: World Health
Organization and StopTB Partnership.
Zar, H. J. (2004). Pneumonia in HIV-infected and HIVuninfected children in developing countries: Epidemiology, clinical features, and management. Current
Opinion in Pulmonary Medicine, 10(3), 176183.
Zar, H. J., Hanslo, D., Apolles, P., Swingler, G., & Hussey,
G. (2005). Induced sputum versus gastric aspirate
lavage for the microbiological confirmation of pulmonary tuberculosis in infants and young children: A
prospective study. Lancet, 365, 130134.
Zar, H. J., Cotton, M. F., Strauss, S., Karpakis, J., Hussey,
G., Schaaf, H. S., Rabie, H., & Lombard, C. J. (2007).
Effect of isoniazid prophylaxis on mortality and
incidence of tuberculosis in children with HIV: Randomised controlled trial. The British Medical Journal,
334(7585), 136.
Children with Multiple Sclerosis
11
Yann Mikaeloff
Abstract
Multiple sclerosis (MS) is a chronic inflammatory demyelinating syndrome of the central nervous system (CNS). MS is a rare disease compared
to the classic adult-onset MS. There have recently been improvements in
the understanding of pediatric CNS demyelination, including pathogenesis, epidemiology, magnetic resonance imaging, laboratory features, and
treatment. This chapter reviews the current understanding of these, including epidemiology and special health care needs in childhood MS.
Early assessment of factors that predict successful health outcomes and
social inclusion of children with MS could guide supporting interventions
such as social assistance, coaching, and psychological counseling, thus
improving their community participation later on.
Abbreviations
ADEMAcute disseminated encephalomyelitis

CIS Clinically isolated syndrome
CNS Central nervous system
CSF Cerebrospinal fluid
EBV Epstein Barr Virus
EDSS Expanded disability status scale
HB Hepatitis B
HLA Human leukocyte antigen
HRQ Health-related quality
IFN Interferon
IgG Immunoglobulin G
MBP Myelin basic protein
MOG Myelin oligodendrocyte glycoprotein
Y. Mikaeloff ()
Service de Neurologie Pediatrique, CHU Bictre,
Assistance Publique-Hopitaux de Paris, Hopital Bictre,
78 avenue du Gnral Leclerc, 94275 Le KremlinBictre Cedex, France
e-mail: yann.mikaeloff@bct.ap-hop-paris.fr
Universit Paris Sud 11, Paris, France
213
214
MRI Magnetic resonance imaging

MTR Magnetization transfer imaging
MS Multiple sclerosis
NMO Neuromyelitis optica
OCB Oligoclonal bands
RRMS Relapsing/remitting multiple
sclerosis
SD Standard deviation
11.1Introduction
Multiple sclerosis (MS) is a chronic inflammatory demyelinating syndrome of the central nervous
system (CNS). MS is a rare disease compared to
the classic adult-onset MS. There have recently
been improvements in the understanding of pediatric CNS demyelination, including pathogenesis, epidemiology, magnetic resonance imaging
(MRI), laboratory features, and treatment. This
chapter reviews the current understanding of
these, including epidemiology and special health
care needs in childhood MS.
11.1.1Demographic Features
It is estimated that 310% of all MS patients will
have an onset before the age of 18 years (Banwell et al. 2007b; Yeh et al. 2009). Childhood
MS has been reported in many countries with regional differences in frequency (Marrie 2004). In
most cases, the disease is common in temperate
areas and rare in tropical areas. The areas of high
prevalence in adult MS (>30 cases per 100,000)
include North America, northern Europe, southern Australia, and New Zealand. The areas of
medium-prevalence (530 cases per 100,000)
include southern Europe, southern America, and
northern Australia. The areas of low-prevalence
(<5 cases per 100,000) include Asia, Africa,
and South America. The regional differences in
prevalence may have been incorrectly estimated
in some areas due to varied diagnostic criteria
and methodological differences in measurement
(Marrie 2004; Mikaeloff etal. 2010b, p.48). According to migration studies of adult-onset MS,
Y. Mikaeloff
emigration during childhood of people from

areas with low risk of MS to areas with high risk
exposes them to the risk of MS associated with
the region to which they relocate (Dean and Elian
1997). Considering analysis of the age at migration, different authors suggest that the risk of
disease is mostly established during the first 20
years of life (Marrie 2004). A recent study evaluates the incidence of acquired demyelination of
the CNS in Canadian children within the period
20042007 (Banwell etal. 2009). Two hundred
nineteen children with acquired demyelination
of the CNS were reported. The most common
presentations were optic neuritis (23%), acute
disseminated encephalomyelitis (ADEM, 22%),
and transverse myelitis (22%). Children with
ADEM were more likely to be younger than 10
years of age, whereas children with monolesional-acquired demyelination of the CNS were more
likely to be older than 10 years of age (p<0.001).
There were 73 incident cases per year, leading to
an annual incidence of 0.9 per 100,000 Canadian
children.
The sex ratio in pediatric MS depends on the
onset age with no clear sex predisposition in patients under 6 years of age (Banwell etal. 2007a;
Yeh et al. 2009). Conversely, presentation of
the disease in the second decade of life shows a
predominantly female predisposition. It remains
unclear whether this preponderance is related to
a hormonal effect or to a genetic influence connected with gender-determining factors.
11.1.2Definitions and Clinical

Features at Onset
An international consensus group has recently
proposed more specific definitions for MS and
related disorders in childhood, adapted from
those used in adult patients (Krupp et al. 2007;
McDonald etal. 2001). It has to be taken into account that MRI has also contributed to improve
recognition of MS diagnoses in children.
In this classification (Krupp etal. 2007):
Pediatric MS requires at least two discrete episodes of CNS demyelination separated in time
and space, as described in adults. The events
11 Children with Multiple Sclerosis
should not include encephalopathy and should

be separated in time by four or more weeks.
A first event of MS is typically a clinically isolated syndrome (CIS). If a child with an initial
diagnosis of ADEM has subsequent relapses
of non-ADEM (i.e., demyelination without encephalopathy), then two non-ADEM
relapse events are required (i.e., total three
events) before a diagnosis of MS is made.
MRI can be used to satisfy criteria for dissemination in time following the initial event
in children >10 years old, even in the absence
of a new clinical event. The new T2 lesions
must develop 3 months or longer after the initial clinical event (McDonald etal. 2001).
These criteria state that a first event associated with encephalopathy (altered consciousness or change in behavior) should be defined as
ADEM, which cannot constitute a first episode
of MS (Krupp et al. 2007). This last statement
was debated by other authors (Mikaeloff et al.
2006). In contrast, a first episode of demyelination, which is not associated with encephalopathy, is termed a CIS. A CIS can take any one of
the following monofocal (isolated) forms: optic
neuritis, transverse myelitis, brainstem syndrome
(the only CIS that can be associated with altered
consciousness), cerebellar syndrome, hemispheric syndrome (hemiplegia or hemisensory syndrome), or a multifocal syndrome (multiple signs
not including encephalopathy).
A review of the clinical presentation at a first
episode for 1,540 children with MS from literature included cases from cohorts using varying
definitions (Banwell et al. 2007b). Approximately 3050% of those children had monofocal presentations as listed above and 5070% of
children had multifocal syndromes (polyfocal
or multisymptomatic) during a first episode.
Motor dysfunction was present in 30% of all the
patients, while 1530% showed sensory symptoms, 1022% optic neuritis, 515% ataxia, 25%
brainstem syndromes, with monofocal transverse
myelitis concerning less than 10% of the children
(Banwell et al. 2007a). Nonspecific symptoms
such as fatigue are common (40%) and seizures
occur only in 5% of the patients. Seizures are
more common in ADEM (Tenembaum et al.
215
2002; Mikaeloff etal. 2007a). A mutisymptomatic episode with encephalopathy (altered consciousness) concerns 15% of the MS patients at
onset, if we disregard the previous classification
(Mikaeloff etal. 2006).
Among children aged less than 10 years, MS
has varying characteristics at onset. The most
common one seems to be ataxia at around 50%,
along with fever or encephalopathy (Banwell
etal. 2007b). Although encephalopathy is seen as
more consistent with monophasic ADEM, young
children with relapsing MS can exhibit encephalopathy with other symptoms (52% for children
under 6 years of age at onset, 22% for children
69 years of age, as compared to 67% for older
children; Mikaeloff et al. 2006). It is suspected
that the International criteria may need to be
completed to allow for this specificity.
11.1.3Risk of Relapse After a First

Episode of CNS Demyelination
The French national cohort of 296 children included all children presenting a first episode of
CNS demyelination, e.g., possible MS, ADEM,
transverse myelitis, inflammatory optic neuritis,
or brainstem dysfunction (Mikaeloff etal. 2004a,
b). Previous cohort studies based only on recruitment of MS diagnosis resulted in selection bias
(Boiko et al. 2002a; Simone et al. 2002). The
French national cohort was the first to include
all first episodes of acute CNS inflammatory demyelination in childhood, which might lead to
chronic relapsing MS disease (Mikaeloff et al.
2004a). The cohort was subjected to multivariate
survival analysis to take into account differences
in the duration of follow-up between patients
(Cox 1972). Among these patients, the risk of
a second attack qualifying for an MS diagnosis
was 57% after a mean observation period of 2.9
years. This study suggested that MS was more
common among first episodes of acute CNS inflammatory demyelination in childhood than was
previously suspected.
In a prospective study of 36 Canadian children
with optic neuritis, 36% were diagnosed with
MS after a mean observation period of 2.4 years
216
(Wilejto etal. 2006). In retrospective series, the

risk of MS after childhood optic neuritis has
been reported to be 1540% (Kriss et al. 1988;
Riikonen etal. 1988). A second attack, leading to
MS diagnosis, may occur many years after childhood optic neuritis; in a longitudinal study, MS
was diagnosed in 13% of patients within 10 years
of the initial childhood optic neuritis event and
in 23% of patients within 23 years (Lucchinetti
etal. 1997). Isolated transverse myelitis was the
first demyelinating event in only 13 (8%) of the
168 children diagnosed with MS described in the
French national cohort (Mikaeloff etal. 2004a).
11.2Clinical Course
In MS different courses are described:
The relapsing remitting course is the most
common and is characterized by episodic
relapses with intervening remissions.
The primary progressive course is rarer. It
concerns mostly adult patients with a progressive worsening of disability since the onset of
the disease.
The secondary progressive course is another
possibility. After a variable period of a relapsing remitting course, patients can enter a secondary progressive course with a progressive
worsening of disability.
A recent review of childhood MS with onset
before 16 years of age reported that 96% of
1,540 children were initially diagnosed with a
relapsing-remitting course, with only 57 (3.7%)
children being initially diagnosed with a primary
progressive course (Banwell et al. 2007b). Of
these 1,540 children, 263 (17%) were less than
10 years old at the time of their first attack.
In the French national cohort of 197 MS patients, the median age at disease onset was 11.9
years. The median time between the first event
and the second episode was 7.8 months (range:
1111 months; meanstandard deviation (SD):
15.520.5 months; Mikaeloff et al. 2006).
Younger children (<10 years of age) have a longer interval from first to second attack (median
time: 1012 months, range: 1110), in contrast
to older children (10 years; median time: 68
Y. Mikaeloff
months, range: 190). The analysis of the occurrence of the MS-defining first relapse shows
that 50% of first relapses occur during the first 8
months of follow-up and 80% within the first 2
years of follow-up (Mikaeloff etal. 2006).
11.3Investigation Features
11.3.1Cerebrospinal Fluid
Cerebrospinal fluid (CSF) analysis plays a role in
the exclusion of acute infection and malignancy.
CSF white cell count in children during a first
attack of MS is over 10 leukocytes/mm3 in approximately 40% of patients (Mikaeloff et al.
2004a). Cell counts of up to 60 leukocytes/mm3
were found in approximately 8% of children in
another study (Pohl etal. 2004).
Oligoclonal bands (OCB) are detected in the
CSF of 5090% of children with MS (Pohl etal.
2004; Mikaeloff etal. 2006). Oligoclonal bands
are less frequently detected in cerebrospinal fluid
from younger (<10-year old) patients than in
older (>10-year old) patients (27 vs. 52%; Mikaeloff etal. 2006). CSF OCB may develop during the course of the disease in children initially
not having OCB (Pohl et al. 2004). Moreover,
a recent study shows that age modifies the CSF
profile at pediatric MS onset, i.e., lower proportion of lymphocytes, higher proportion of neutrophils, and a lower frequency of elevated immunoglobulin G (IgG) index before 11 years of
age at onset, which may mislead the diagnosis
(Chabas etal. 2010).
11.3.2Serologies
There are neither specific nor sensitive blood
markers of MS in children. Serum autoantibodies for neuromyelitis optica IgG (antigen aquaporin-4) should be tested if there is a clinical
suspicion of neuromyelitis optica (optic neuritis
and transverse myelitis), as a different approach
in treatment may be required (Lennon et al.
2005; Banwell etal. 2008). The clinical phenotype associated with autoimmunity against aqua-
porin-4 has broadened to include isolated optic

neuritis, isolated transverse myelitis, and other
cerebral symptoms (encephalopathy, ataxia, and
seizures); however, this is not the case in MS
(McKeon etal. 2008).
11.3.3Magnetic Resonance Imaging

MRI plays a role in evaluating the dissemination
of CNS lesions consistent with the diagnosis of
inflammatory demyelination and may be used
to predict the course of the disease. Diagnostic
criteria for MS in adults include MRI evidence
of disease dissemination within the CNS over
time (McDonald etal. 2001; Polman etal. 2005).
However, adult MRI criteria have a sensitivity of
only 5254% when applied to MRI images obtained from children during their first MS attack
(Mikaeloff etal. 2004b; Hahn etal. 2004). These
adult MRI criteria also only have a sensitivity of
67% when applied to MRI images obtained at
the second MS-defining event in children (Hahn
etal. 2004). Sensitivity is particularly low (37%)
if MRI criteria are applied to images obtained at
the time of the first MS attack in children with
an age at onset under 10 years (Mikaeloff etal.
2004b). In the French cohort of ADEM (demyelination plus encephalopathy), 66 out of all 132
patients (50%) fulfilled the Barkhof adult MS criteria (Mikaeloff etal. 2007a). These reports suggested adult MS MRI criteria performed poorly
in pediatric MS and in differentiation of pediatric
MS from ADEM.
Several further studies in both children and
adults have shown that MRI is not sufficient to
distinguish ADEM from MS (Tenembaum etal.
2002). The MRI criteria for monophasic ADEM
have been defined as large numbers of fuzzy,
poorly defined lesions associated with the thalamus, and/or basal ganglial lesions (Hynson etal.
2001). However, relapses occur within 2 years
in 1030% of patients initially diagnosed with
ADEM (Dale et al. 2000; Hynson et al. 2001;
Tenembaum etal. 2002; Mikaeloff etal. 2004a).
Moreover, in the French cohort, thalamus and
basal ganglia lesions were equally frequent in
217
both monophasic (ADEM) and recurrent diseases

(i.e., MS; Mikaeloff etal. 2004b).
In view of these difficulties, the French national cohort study used a standardized method
in a cohort of 116 children undergoing imaging
at the time of the first episode of acute CNS inflammatory demyelination to delineate MRI features predictive of MS occurrence (Mikaeloff
et al. 2004b). After a mean follow-up of 4.9
years, 45% of the children experienced a second
attack and were diagnosed with MS. Based on
multivariate survival analysis, MRI features during the first event that were predictive of progression to MS included: (1) lesions perpendicular to
the long axis of the corpus callosum and (2) the
presence of only well-defined lesions (childhood
MS MRI criteria). The presence of both these
features was 100% specific for an MS outcome,
although its sensitivity was only 21%. The presence of only one of these criteria (in 55% of patients) increased sensitivity to 79% but decreased
specificity to only 63%. This study also demonstrated that the presence of these childhood MS
MRI features during the first attack was predictive of a third attack or severe disability (Mikaeloff etal. 2004b, 2006).
A retrospective analysis of MRI from 38 children with clinically defined MS and 45 children
with nondemyelinating diseases with relapsing neurological deficits (migraine, systemic
lupus erythematosus) was performed in a recent
study (Callen et al. 2009). For each scan, T2/
FLAIR hyperintense lesions were quantified
and categorized according to location and size.
Mean lesion counts in specific locations were
compared between groups to derive diagnostic
criteria. Validation of the proposed criteria was
performed using MRI scans from a second MS
group (n=21). MRI lesion location and size categories differed between children with MS and
nondemyelinating controls with a medium-tolarge effect size for most variables. The presence
of at least two of the following: (1) five or more
lesions, (2) two or more periventricular lesions,
and (3) one brainstem lesion-distinguished MS
from other nondemyelinating disease controls
with 85% sensitivity and 98% specificity.
218
Another retrospective analysis of MRI obtained at a first attack from 28 children subsequently diagnosed with MS and 20 children with
ADEM was performed with the aim to make a
better distinction between MS and monophasic
ADEM (Ketelslegers et al. 2010b). T2/fluidattenuated inversion recovery hyperintense lesions were quantified and categorized according
to location, description, and size. T1-weighted
images before and after administration of gadolinium were evaluated for the presence of black
holes and for gadolinium enhancement. Mean
lesion counts and qualitative features were compared between groups and analyzed to create
a proposed diagnostic model. The total lesion
number did not differentiate ADEM from MS,
but periventricular lesions were more frequent
in children with MS. Combined quantitative and
qualitative analyses led to the following criteria
to distinguish MS from ADEM, any two of: (1)
absence of a diffuse bilateral lesion pattern, (2)
presence of black holes, and (3) presence of two
or more periventricular lesions. Using these criteria, MS patients at first attack could be distinguished from monophasic ADEM patients with
an 81% sensitivity and a 95% specificity.
MRI can also be used to explore tissue integrity (magnetization transfer imaging, MTR; diffusion tensor imaging) and tissue biochemistry
(MR spectroscopy; Banwell et al. 2007b; Yeh
etal. 2009).
11.4Pathogenesis and
Environmental Risk Factors
11.4.1Genetic Studies
MS is a multifactorial disease caused by several
environmental factors in a genetically susceptible individual (Dyment et al. 2004). A family
history of MS is reported in 68% of pediatric
MS patients (Mikaeloff etal. 2006; Banwell etal.
2007b). Members of the families of affected individuals have a greater risk of disease than the
general population. Half siblings of affected
individuals have about half the risk of full siblings of developing MS, while adopted siblings
Y. Mikaeloff
have no greater risk than the general population.

These findings indicate that genetic factors do
contribute to an individuals risk of MS. Concordance levels are higher for monozygotic (~30%)
than for dizygotic twins (~5%), but remain well
below 100%, indicating that genetics alone cannot account for the development of this disease
(Sadovnick et al. 1993). Genetic studies of the
myelin oligodendrocyte glycoprotein (MOG)
gene, located very close to the human leukocyte antigen (HLA) region on chromosome six
in children identified no disease-specific associations in a study of 75 German children with
MS (Ohlenbusch etal. 2002). The frequency of
HLA-DR2 was reported to be high in a study of
47 children with MS from Russia, and in genetic
studies of adults with MS (Boiko al. 2002b; Dyment etal. 2004).
11.4.2Immunology
MS is thought to be a cell-mediated autoimmune
disease of the CNS (Yeh etal. 2009). The available evidence supporting this concept of autoimmunity includes: (1) patients are predominantly
female, similar to autoimmune disorders such as
rheumatoid arthritis and systemic lupus erythematosus; (2) transient attenuation of disease activity occurs during pregnancy (a state of relative
immunosuppression; Confavreux et al. 1998);
(3) association with other autoimmune diseases
in both affected individuals and members of their
families; (4) association with HLA type (Dyment etal. 2004); (5) similarity to experimental
autoimmune encephalomyelitis, an autoimmune
animal model of MS; and (6) presence of autoantibodies against myelin antigens in serum and
CSF.
Myelin proteins such as myelin basic protein
(MBP) and myelin oligodendrocyte glycoprotein
(MOG) are proposed autoantigen targets in MS.
Autoantibodies against MOG in its native tetramer state are found in pediatric demyelination,
principally in ADEM patients. A recent study
showed that serum levels of anti-MBP antibodies
correlated significantly with their CSF levels and
their presence in children with MS was associat-
ed with significantly increased risk of an ADEMlike initial clinical presentation (OConnor etal.
2010). Another recent study showed that the prevalence of anti-MOG autoantibodies was highest
among patients with an early onset of MS: 38.7%
of patients aged less than 10 years disease onset
had anti-MOG autoantibodies, compared with
14.7% of patients in the 1018 year age group. B
cell autoimmunity to this myelin surface antigen
is therefore most common in patients with a very
early onset of MS (McLaughlin etal. 2009).
11.4.3Vitamin D Status
Vitamin D insufficiency, which appears to be a
risk factor for several systemic autoimmune diseases, such as systemic lupus erythematosus and
type I diabetes, has likewise emerged as a risk
factor for susceptibility to MS (Munger et al.
2006). Moreover, lower serum 25-hydroxyvitamin D3 levels are associated with a substantially
increased subsequent relapse rate in pediatriconset MS or CIS (Mowry etal. 2010).
11.4.4Infections
No observational study has ever identified an infectious agent as a causal factor for MS. However,
any one of several agents might produce the same
result in the appropriate circumstances (such as
critical time of exposure to infection in a genetically susceptible host; Marrie 2004; Banwell etal.
2007a; Yeh et al. 2009). Conflicting data have
been obtained concerning the importance of age
at infection for specific infectious diseases.
Serological evidence of previous infection
with Epstein Barr Virus (EBV) has been documented in over 85% of children with MS. This
frequency is significantly different from the seroprevalence of 4060% reported for age-matched
healthy children (Alotaibi etal. 2004; Pohl etal.
2006; Banwell et al. 2007a). A multinational
study included 137 children with MS and 96 control participants matched by age and geographical region. They underwent clinical examinations
219
and assays for IgG antibodies directed against the

Epstein Barr virus, the cytomegalovirus, parvovirus B19, the varicella zoster virus, and the herpes simplex virus. MS was relapsing-remitting
at diagnosis in 136 (99%) children. The first MS
attack resembled ADEM in 22 (16%) of the children, most under the age of 10 years (mean age
7.4 (SD 4.2) years). Over 108 (86%) of the children with MS, irrespective of geographical residence, were seropositive for remote EBV infection, compared with only 61 (64%) of matched
controls (p=0.025, adjusted for multiple comparisons). Children with MS did not differ from
controls in seroprevalence compared to the other
childhood viruses studied, nor with respect to
month of birth, number of siblings, sibling rank,
or exposure to younger siblings. The authors concluded that MS in children might be associated
with exposure to EBV, suggesting a possible role
for EBV in MS pathobiology.
Four case-control studies and two cohort
studies found that MS risk was higher in individuals with a history of infectious mononucleosis (EBV), whereas no such increase in risk
was found in several other case-control studies
(Ascherio etal. 2001; Marrie 2004). Multiple ongoing research studies support a possible role for
EBV in MS immunology and pathology (Serafini
etal. 2007).
Measles, mumps, rubella, and chicken pox are
common childhood infections and all have been
considered as potential causal agents of MS. A
case-control study by the Italian MS Study Group
found that MS patients were more likely to report
at least one childhood illness (including measles,
mumps, chicken pox, rubella) after the age of 6
years (odds ratio 1.52; 95% CI 1.052.20; Marrie 2004). However, several case-control studies
found no evidence to suggest that measles infections occur more frequently among MS patients
(reviewed in Marrie 2004). Similar negative results were reported for the possible association
between rubella and MS. Studies of mumps and
chicken pox have also consistently shown no association between the frequency of these infections and MS. In recent studies, serological measurements of exposure to several other common
220
childhood infectious agents, including parvovirus B19, the herpes simplex virus and CMV did
not differ between children with MS and agematched controls (Alotaibi et al. 2004). In one
study, 28% of 25 children with MS were shown
to harbor intrathecal antibodies against Chlamydia pneumoniae but this was interpreted as reflecting a polyspecific immune response, rather
than a disease-related association (Rostasy etal.
2003). Moreover, only weak evidence of an association between MS and Chlamydia pneumoniae
has been obtained in epidemiological studies in
adults (Marrie 2004).
The KIDSEP study group conducted a population-based case-control study to investigate
whether clinically observed chickenpox, linked
with a level of intensity for clinical expression,
increases the risk of MS in childhood (Mikaeloff
etal. 2009). The cases were those of MS patients
whose disease onset occurred between 1994 and
2003, before 16 years of age, in France. Each case
was matched for age, sex, and geographic origin
with as many as 12 controls randomly selected
from the general population. Information about
clinically observed chickenpox in cases and controls before the index date regarding onset of MS
was collected with a standardized questionnaire
and was checked against health certificates. Conditional logistic regression was used to estimate
the odds ratio for an association between MS and
chickenpox. The 137 MS cases were matched
with 1,061 controls. Clinically observed chickenpox had occurred in 76.6% of the cases and
84.9% of their matched controls. The adjusted
odds ratio of MS onset associated with chickenpox occurrence was 0.58 (95% confidence interval (CI): 0.36, 0.92). The authors concluded that
clinically observed chickenpox was associated
with a lower risk of childhood-onset MS in the
French population.
Serological assessments of past contact with
infectious agents often fail to take into account
the chronology of events (MS may have occurred
before the infection), the severity of the infection,
and the characteristics of the associated immune
response. These limitations must be taken into
account.
Y. Mikaeloff
11.4.5Vaccinations
Several studies have evaluated the possibility of
an association between the recombinant hepatitis
B (HB) vaccine and an increase in incident MS in
adults. Most studies found no significant increase
in the risk of incident MS, in the short (mostly
within 2 months) or long (>1 year to any time
exposure) term after immunization, in cohort or
case-control designs (Mikaeloff et al. 2007c).
However, Hernn etal. (2004) reported a significant increase in the risk of MS within 3 years of
vaccination, suggesting that prolonged risk periods should be evaluated (Hernn etal. 2004).
A study in children investigated whether the
HB vaccination after a first episode of acute
childhood CNS inflammatory demyelination increased the risk of conversion to MS (Mikaeloff
etal. 2007b). A Cox proportional hazards model
of time-dependent vaccine exposure during follow-up was used to evaluate the effect of vaccination (HB, tetanus) during follow-up on the
risk of a second episode occurrence (conversion
to MS). The study concluded that vaccination
against HB after a first episode of CNS inflammatory demyelination in childhood does not appear to increase the risk of conversion to MS.
A further study investigated the possibility of
a link between the HB vaccine and incident MS
in children, using evaluations of prolonged risk
periods in a population-based, case-control study
(Mikaeloff etal. 2007c). The 143 cases of pediatric MS were matched to 1,122 controls, on the
basis of age, sex, and geographical origin. The
rate of HB vaccination in the 3 years before the
index date was 32% for both cases and controls.
The study concluded that HB vaccination did not
appear to increase the risk of a first episode of
MS in childhood. Similarly, no difference was
found between children with MS and controls in
terms of serological responses to other vaccinerelated agents (measles, mumps, rubella, or pertussis; Bager etal. 2004). Further investigations
concerning the risk of all first episodes of acute
CNS inflammatory demyelination in childhood
are underway.
11.4.6Passive Smoking
The possibility of a link between active smoking and incident MS has been reported in adults
(Hernn et al. 2001; Riise et al. 2003). A population-based, case-control study addressed this
association in children (Mikaeloff etal. 2007d).
The 129 cases of pediatric MS were matched
with 1,038 controls. Exposure to parental smoking was noted in 62.0% of cases and 45.1% of
controls. The adjusted RR of a first episode of
MS associated with exposure to parental smoking at home was 2.12 (95% CI: 1.433.15). Stratification for age showed that this increase in risk
was significantly associated with the longer duration of exposure in older cases (over 10 years of
age at the time of the index episode)RR 2.49
(1.534.08)as opposed to the shorter duration
of exposure in younger cases. Children exposed
to parental smoking therefore have a higher risk
of MS, this risk being affected by the duration of
exposure.
11.4.7Treatment
The diagnosis of a chronic relapsing illness,
with unpredictable events, may have psychological consequences and care must be taken to ensure optimal management. A good relationship
between the medical team, the patient, and the
parents is important to obtain compliance with
medication. No large randomized controlled
trial has ever been carried out for childhood MS.
Most treatment decisions are based on the results
of adult MS studies (Banwell et al. 2007a; Yeh
etal. 2009).
11.4.7.1Treatment of Attacks
Attacks in children are treated with corticosteroids (Banwell etal. 2007a; Yeh etal. 2009). No
specific studies have addressed the issues of the
most appropriate dose or the efficacy of these
drugs. However, most treatment regimens for severe demyelination are based on the intravenous
infusion of 1030mg/kg/dose (up to 1,000mg/
dose) of methylprednisolone for 35 days. Decisions concerning the use of oral prednisone after
221
intravenous infusions, the starting dose (typically 12 mg/kg/day) and the specific tapering
schedule are empiric. Mild attacks that do not
limit school attendance or other activities do not
require corticosteroid therapy. If no response to
an initial course of corticosteroids is obtained, a
second course of 35 days of intravenous treatment (doses as specified above) may be effective.
Efficacy of treatment with intravenous immunoglobulin is debated (Pohl 2008).
11.4.7.2Immunomodulatory Therapies
Interferon-beta (IFN-) is the most frequently
used disease-modifying treatment in adult-onset
relapsing-remitting MS. Current recommendations are to initiate treatment early in the course
of the disease, aiming to reduce disability and cerebral atrophy.
Pediatric MS case series have shown that
IFN- is well tolerated in the short term (Mikaeloff etal. 2001; Pohl etal. 2005; Ghezzi etal.
2005a; Ghezzi and ITEMS (Immunomodulatory
Treatment of Early Onset MS) Group 2005b;
Tenembaum and Segura 2006; Banwell et al.
2006). Acetaminophen (paracetamol) or ibuprofen can be used to treat flu-like symptoms. Other
IFN- side effects described in children include
depression, generalized edema, and elevated
liver enzymes (Banwell etal. 2007a).
Studies assessing the efficacy of IFN- for
reducing the relapse rate were subject to methodological limitations concerning comparisons
of pre- and post-IFN- treatment periods (Ghezzi etal. 2005a, 2009; Ghezzi and ITEMS Group
2005b; Pohl etal. 2005; Tenembaum and Segura
2006; Banwell etal. 2006). For example, a recent
Italian study evaluated in a different way the effect of two immunomodulatory agents (Interferon-Beta, Glatiramer Acetate) in a cohort of pediatric MS patients with disease onset in childhood
or adolescence, treated before 16 years of age,
after a long-term follow-up. A total of 130 patients were identified, 77 were treated with Avonex, 39 with Rebif/Betaferon, and 14 with Copaxone. After a mean (SD) treatment duration of
53.627.0, 59.939.5, and 74.635.5 months,
respectively, the relapse rate decreased significantly. The final expanded disability status scale
222
(EDSS) score was unchanged with respect to the

initial score. Similar results were also observed
in subjects who continued a long-term followup after they were included in an observational
study in 2004, as well as in subjects treated before 12 years of age. The frequency of clinical
and laboratory adverse events was similar to that
observed in adult patients.
From a methodological point of view, these
study designs did not take into account the decreasing probability of relapse over time, which
may have biased findings towards IFN- efficacy
(Noseworthy etal. 2000; Mikaeloff etal. 2004a).
Indeed, simple comparisons between pre- and
post-treatment periods and the initiation of treatments later on in the course of the disease (mean
onset between 20 and 40.3months) may have biased the results in favor of IFN- efficacy. Only
one single-center study of 16 children, randomized to IFNB-1a (Avonex) at a low dose (15g
weekly) or placebo, can more confidently claim a
beneficial effect of treatment on relapse rate, disability progression, and the accumulation of T2
lesions (Kappos etal. 2006).
In the absence of large randomized controlled
trials (as performed in adult MS), comparative
observational cohort studies based on the real
practice of physicians are useful tools for evaluating the efficacy of drugs (Strom 2005). An observational study assessed the efficacy of IFN-
for preventing the subsequent attack and the
presence of severe disability in a pediatric MS
cohort (Mikaeloff etal. 2008). The study included a cohort of 197 relapsing/remitting multiple
sclerosis (RRMS) patients (19902005) followed
from their MS diagnosis until their next attack or
until the occurrence of severe disability (EDSS
score of 4). During cohort follow-up (mean
5.5years), 70.5% of the 197 children had a first
relapse (80 % of these within the first 2 years)
and 24 started IFN- treatment (after a mean of
3.6 months; mean duration 17.1 months). The
use of IFN- was associated with a significantly
lower frequency of attacks during the first year of
treatment (hazard ratio: 0.31, 95% CI: 0.130.72)
and during the first 2 years of treatment (0.40,
0.200.83). The effect of the treatment was
less significant if the entire follow-up period of
Y. Mikaeloff
4years was considered (0.57, 0.301.10). IFN-

seemed to reduce the occurrence of severe disability, although this effect was not statistically
significant (HR 0.78; 95% CI: 0.252.42). The
conclusion was that the use of IFN- after the diagnosis of MS reduces the risk of relapse during
the first 2years.
Current recommendations are that after a first
relapse, IFN- treatment may be considered, as
in adult patients. The use of IFN- in children is
acceptable, although little specific information
is available concerning its long-term effects or
the induction of specific immune reactions, including the production of neutralizing antibodies
(Noronha 2007).
Glatiramer acetate is an alternative immunomodulatory therapy to interferon-beta and may be
beneficial in pediatric MS (Kornek etal. 2003).
Comparative studies between these agents have
not been performed in children. No studies have
been published concerning the safety, efficacy,
or selection of drugs for children with severe
RRMS refractory to IFN- or glatiramer acetate.
Case reports have described the administration of
azathioprine, mitoxantrone, cyclophosphamide,
or methotrexate.
A retrospective multicenter chart review of
17 children with MS treated with cyclophosphamide was performed in North America (Makhani
etal. 2009). All but one had worsening of EDSS
scores or multiple relapses prior to treatment initiation. Children were treated with one of three
regimens: (1) induction therapy alone, (2) induction therapy with pulse maintenance, or (3)
pulse maintenance alone. Treatment resulted in
a reduction in relapse rate and stabilization of
disability scores assessed 1 year after treatment
initiation in the majority of patients. Longer
follow-up was available for most of the cases.
Cyclophosphamide was well tolerated in most
patients. However, side effects included vomiting, transient alopecia, osteoporosis, and amenorrhea. One patient developed bladder carcinoma that was successfully treated. The authors
concluded that cyclophosphamide is an option
for the treatment of children with aggressive MS
refractory to first-line therapies.
223
A German study determined the safety, effectiveness, and tolerability of natalizumab (a

monoclonal antibody against alpha-4 integrin)
use in three pediatric patients with RRMS having a poor response to other immunomodulatory
therapies or having intolerable adverse effects
(Huppke et al. 2008). Natalizumab was given
every 4 weeks at a dosage of 35mg/kg of body
weight. During 24, 16, and 15 months of treatment, no further relapses occurred in the three
pediatric patients and all reported significant improvement in their quality of life. Follow-up MR
imaging showed no new T2-weighted or gadolinium-enhancing lesions. No adverse events were
seen when the dosage was adjusted to the body
weight. The authors concluded that Natalizumab
treatment was effective and well-tolerated in our
pediatric patients with RRMS who did not respond to initial immunomodulatory treatments.
11.4.8Compliance to Treatment
Studies based on adult MS patients have reported
compliance rates of 3080% (Treadaway et al.
2009). Data specific to pediatric MS patients
are scarce. In North America, major causes for
noncompliance in adult MS patients included
forgetting or refusal to administer medication,
side effects, difficulties with self-injection, cost
of treatment, cognitive impairment, depression,
negative impact on quality of life, unrealistic expectations of the treatments efficacy, treatment
fatigue, loss of confidence in the therapeutic efficacy during relapse, and use of more than one
disease-modifying therapy (Clerico et al. 2007;
Cohen and Rieckmann 2007; Treadaway et al.
2009). Factors associated with higher rates of
compliance in adult MS patients included older
age at disease onset, disease duration less than 3
years, and increased hope.
In a recent mixed-methods study in Canada,
utilization data for disease-modifying therapies
were reviewed to determine the adherence rate
among a pediatric MS series (Thannhauser etal.
2009). Adolescents were interviewed to explore
their experiences with MS and the impact of peer
relationships on adherence to treatment. Seven-
teen adolescents (6 male, 11 female) started interferon beta or glatiramer acetate before the age
of 18 years. The mean age at first drug start date
was 15.8 years. Eight of the adolescents (47%)
discontinued the treatment after a median duration of 20 months. Many of the adolescents struggled to integrate the injections into their daily
lives with peers either facilitating or impeding
this transition. The authors concluded that these
adolescents had difficulty adhering to diseasemodifying therapies, peers played an important
role in mediating their adjustment to MS, and
specific strategies are required to improve adolescents adherence to treatment, including less
intrusive options and enhancing peer support.
Adolescence is a developmental period
marked by biological, psychological, and social
behavior changes. These changes may contribute
to lower compliance rates (Costello etal. 2004;
Rapoff 2006). Some adolescent patients may not
have adequate resources to overcome the challenge of a chronic illness such as MS. MS may
also be perceived as an invisible disease, leading adolescents to believe that they do not need
to follow the treatment schedule (Pritchard etal.
2006). Medical treatment in chronic diseases
can have negative implications for peer relationships, such as restricting social activities. In addition, medical treatment can be perceived as a
threat to their desire for autonomy, which may
cause adolescents to reject the recommendations
or assistance of doctors and caregivers (Shaw
etal. 2003). Pre-existing psychological dysfunction in their social environment (family or other)
may also impact their compliance to treatment.
Although infrequent, side effects can alter physical appearance, resulting in lower compliance
in adolescents becoming more self-conscious of
their bodies (Kyngs etal. 2000).
11.5Prognosis and Outcome

Kurtzkes EDSS is the most common disability
tool used in MS. EDSS 0 is a normal neurological
exam, EDSS <4 indicates abnormal neurological
signs, but no restriction in independence. EDSS
between 4 and 6 indicates limitations in daily
224
function and EDSS >6 indicates marked limitations in gait requiring assistance (Banwell etal.
2007a; Yeh etal. 2009).
In the study of Boiko et al. (2002b), based
solely on the use of the KaplanMeier method
for survival analysis, the mean time to reach irreversible disability (EDSS 3) was 16 years in the
116 pediatric patients with clinically confirmed
MS and a mean follow-up period of 20 years
(Boiko et al. 2002b). The median time to reach
EDSS 4 was 14 years in the study by Simone
etal. (2002). The factors identified as predictive
of poor outcome in multivariate analysis were
sphincter dysfunction at first attack and a secondary progressive course (83 patients with clinically confirmed MS, mean follow-up period of 5
years). This study also demonstrated a positive
correlation between the number of relapses in the
first 2 years of the disease and the occurrence of
severe disability (i.e., EDSS 4). Mikaeloff etal.
(2004a) confirmed this result, using a multivariate survival analysis method (Cox regression
model; Collet 1997; Mikaeloff et al. 2004a). In
the study of 197 children with an MS-defining
second attack, EDSS 4 was observed in 15% of
the children after a mean observation period of
7.8 years (Mikaeloff et al. 2006). A severe outcome was defined as occurrence of a third attack,
or an EDSS score >4. At a mean observation of
5.5 years, a severe disease outcome was recorded
for 144 patients (73%). The following risk factors for a severe outcome were found: female
sex, time between first and second attacks of less
than 1 year, childhood-onset multiple sclerosis
MRI criteria at onset (as previously described),
absence of severe mental state changes at onset,
and a progressive course.
Different studies with variable follow-up suggest that the determinant of progression to SP
MS is disease duration. The mean disease duration associated with a 50% risk of SP course is 23
years in childhood-onset relapsing-remitting MS
and 10 years in adults (Boiko etal. 2002b). However, childhood-onset patients generally progress
to disability at a younger age than adult-onset patients (Boiko etal. 2002b). The risk of SP course
was also associated with a high relapse frequency
and shorter interattack intervals in the first few
Y. Mikaeloff
years of the disease (Boiko etal. 2002b; Simone

etal. 2002).
A recent study on long-term prognosis compared a cohort of 394 patients who had multiple sclerosis with an onset at 16 years of age
or younger with 1,775 patients who had multiple
sclerosis with an onset after 16 years of age (Renoux et al. 2007). For patients with childhoodonset MS, the estimated median time from onset
to secondary progression was 28 years, and the
median age at conversion to secondary progression was 41 years. The median times from onset
to disability scores of 4, 6, and 7 were 20.0, 28.9,
and 37.0 years, respectively, and the corresponding median ages were 34.6, 42.2, and 50.5 years.
This study concluded that patients with childhood-onset MS take longer (10 years more) to
reach states of irreversible disability but do so
at a younger age (10 years younger on average)
than patients with adult-onset multiple sclerosis
(Renoux etal. 2007).
11.6Cognitive Impairment and

School Performance
Morbidity associated with MS is broader than
motor and gait dysfunction as measured by the
EDSS. Childhood MS onset occurs during the
key formative academic years and may restrict
school attendance. The permanent cognitive
impairment in childhood MS was confirmed by
descriptive series of children assessed with neuropsychological tests (MacAllister et al. 2005;
Banwell and Anderson 2005; Amato etal. 2008).
Deficits in general cognition, visuomotor integration, and memory have been reported to occur
in at least 30% of children with MS (Banwell
and Anderson 2005). The most common impairments included problems in attention, visuomotor integration, confrontation naming, receptive
language, and executive function. Verbal fluency
was not affected in any of the patients. The severity of cognitive impairment seems to increase
with disease duration and is greater in patients
who were younger at disease onset (Banwell and
Anderson 2005). Conversely, the consequences
on educational performance and socioprofes-
sional insertion of the long-term cognitive impairment that such a disease may induce have not
been studied epidemiologically. In the French educational system, grade retention was found to be
a good proxy for school performance (Sabbagh
et al. 2006). A study of most European Union
countries, including France, showed that a low
socioeconomic status of the family was predictive of poor school performance (PISA 2007). In
North America, grade retention was also a validated outcome for the measure and prediction of
school performance (Byrd and Weitzman 1994;
Pagani etal. 2001).
An epidemiological assessment of prognostic
factors for school performance was performed
in the KIDSEP cohort (Mikaeloff et al. 2010a),
which included 344 children with at least one attack of CNS inflammatory demyelination before
16 years of age. They were included from 1990
to 2003, with a mean age at inclusion of 9.94.3
years and a mean follow-up of 8.03.4 years
since inclusion. All patients needed a follow-up
of at least 2 years to be included in the study.
Baseline data and data concerning the course of
the disease were obtained from medical records.
Information about the number of siblings, the
number of rooms in the family home, parental
divorce before or during the year of the attack,
grade retention (at least one class) before inclusion, and the socioeconomic status of the family
were collected through a specific questionnaire.
To evaluate the prognostic value for grade retention between the start of elementary school
(~6 years of age) and the end of high school
(~1718 years of age), we used the Cox multivariate survival analysis to enter these variables
in the model. The risk of grade retention after the
onset of the disease, as observed in 151 patients
(43.9% of the cohort), was significantly higher
for children over the age of 11 years at disease
onset, children suffering an optic neuritis or a
brainstem dysfunction at the first attack, children with irreversible disability following a first
attack, children with male gender, and children
from families with lower socioeconomic status
and poorer housing conditions. The results of the
study lead us to the conclusion that the risk factors for poor school performance are related to
225
already known predictors of a relapsing severe

course of the disease leading to the diagnosis of
MS, but also to the low socioeconomic status of
the patients families. School performance might
be improved by preventative interventions, such
as education of children and their families, social assistance and school coaching, as well as by
focusing on patients with identified risk factors.
Further prospective studies investigating the effect of these interventions over time could help
optimize them. Since grade retention among patients with demyelinating CNS disease may also
be based on prolonged hospitalizations, recovery
periods and incapacitating fatigue, the effect of
absence from school should also be taken into
consideration.
A recent study in North America evaluated
fatigue and quality of life in 51 pediatric MS patients to determine the rate of fatigue and reduced
quality of life and to assess the relations between
these variables and clinical factors (MacAllister
etal. 2009). Fatigue and quality of life were assessed by a self- and parent-report via the PedsQL
Multidimensional Fatigue Scale and the PedsQL
Quality of Life Scale. In comparison with healthy
samples, pediatric MS patients reported greater
difficulties with respect to fatigue, sleep, cognition, physical limitations, and academic performance. In addition to significant difficulties regarding these factors, parents reported problems
of emotional functioning and tended to report
greater fatigue, sleep, and cognitive difficulties
than were self-reported. The expanded disability
status scale score was the only neurological variable significantly related to fatigue or quality of
life scores. Fatigue was significantly correlated
with reports of sleep difficulties, cognitive problems, and quality of life variables. These findings
suggested to the authors that fatigue and poorer
quality of life is a clear concern in pediatric MS
and is related to overall physical disability.
A recent study in the Netherlands evaluated
the presence and severity of fatigue in 32 children (18 boys and 14 girls) between 11 and 17
years of age (mean: 14 years, 10 months) with a
monophasic inflammatory demyelinating disease
(n=22) or definite MS (n=10; Ketelslegers etal.
2010a). This was measured with the Checklist
226
Individual Strength. A score of 40 on the severity of fatigue subscale indicated the presence of
severe fatigue. The authors also examined the relation between fatigue and depression (assessed
by the Child Depression Inventory) and measured the health-related quality of life (HRQoL),
using the TNO-AZL Child Quality of Life child
form. A comparison of the scores of the MS and
monophasic patients with the scores of healthy
Dutch children was performed. The highest
scores on the fatigue scales of subjective fatigue
and physical activity were found in the children
with MS. Only one of the monophasic patients
suffered from severe fatigue in contrast to four
of the MS patients. In the MS group, fatigue and
depression were correlated. MS patients experienced a lower HRQoL on the scales of locomotor
functioning, cognitive functioning, and interaction with peers. The authors concluded that the
occurrence of fatigue is very rare after a monophasic inflammatory demyelinating event in the
past. As expected, fatigue occurs more frequently
in pediatric MS patients.
11.7Social and Professional

Insertion of Young Adults with
Childhood-Onset MS
Studies with sufficiently prolonged periods of
follow-up will allow the evaluation of the social/
professional insertion and quality of life of young
adults with acute inflammatory demyelination in
the CNS in childhood. In accord with the need
for such studies, the main projects of the KIDSEP
study group, in collaboration with the network
of neurologists following adult patients, are to
describe the social and professional insertion of
young adults from the cohort by qualitative and
quantitative studies. Moreover, assessing early
on in the disease the factors predicting the successful insertion of the patients could guide supporting interventions such as social assistance,
coaching, and psychological counseling, thus
improving their insertion later on.
Social and professional consequences of the
disease were already observed in patients with
adult-onset of MS in a large body of literature
Y. Mikaeloff
(Larocca et al. 1985; OConnor et al. 2005;

Blomquist 2006; Julian etal. 2008; Pfleger etal.
2010; Salter etal. 2010), but the specificities of
patients with childhood-onset of MS must be described in the same way by using accurate epidemiological methodology.
Acknowledgments I thank Velina Minkoff for helpful
comments regarding the English language. Yann Mikaeloff is supported by Universit Paris Sud 11, Institut
National de la Recherche Mdicale (INSERM) and Assistance publique-hpitaux de Paris.
References
Alotaibi, S., Kennedy, J., Tellier, R., Stephens, D., &
Banwell, B. (2004) Epstein-Barr virus in pediatric
multiple sclerosis. Journal of the American Medical
Association, 29, 18751879.
Amato, M. P., Goretti, B., Ghezzi, A., Lori, S., Zipoli,
V., Portaccio, E., Moiola, L., Falautano, M., De Caro,
M. F., Lopez, M., Patti, F., Vecchio, R., Pozzilli, C.,
Bianchi, V., Roscio, M., Comi, G., Trojano, M., &
Multiple Sclerosis Study Group of the Italian Neurological Society. (2008). Cognitive and psychosocial
features of childhood and juvenile MS. Neurology, 70,
18911897.
Ascherio, A., Munger, K. L., Lennette, E. T., Spiegelman,
D., Hernan, M. A., Olek, M. J., Hankinson, S. E., &
Hunter, D. J. (2001). Epstein-Barr virus antibodies and
risk of multiple sclerosis: A prospective study. Journal
of the American Medical Association, 26, 30833088.
Bager, P., Nielsen, N. M., Bihrmann, K., Frisch, M., Hjalgrim, H., Wohlfart, J., Koch-Henriksen, N., Melbye,
M., & Westergaard, T. (2004). Childhood infections
and risk of multiple sclerosis. Brain, 127, 24912497.
Banwell, B. L., & Anderson, P. E. (2005). The cognitive
burden of multiple sclerosis in children. Neurology,
64, 891894.
Banwell, B., Reder, A. T., Krupp, L., Tenembaum, S.,
Eraksoy, M., Alexey, B., Pohl, D., Freedman, M.,
Schelensky, L., & Antonijevic, I. (2006). Safety and
tolerability of interferon beta-1b in pediatric multiple
sclerosis. Neurology, 66, 472476.
Banwell, B., Ghezzi, A., Bar-Or, A., Mikaeloff, Y., &
Tardieu, M. (2007a). Multiple sclerosis in children:
Clinical diagnosis, therapeutic strategies, and future
directions. Lancet Neurology, 6, 887902.
Banwell, B., Krupp, L., Kennedy, J., Tellier, R., Tenembaum, S., Ness, J., Belman, A., Boiko, A., Bykova, O.,
Waubant, E., Mah, J. K., Stoian, C., Kremenchutzky,
M., Bardini, M. R., Ruggieri, M., Rensei, M., Hahn,
J., Weinstock-Guttman, B., Yeh, E. A., Farrell, K.,
Freedman, M., Iivanainen, M., Sevon, M., Bhan, V.,
Dilenge, M. E., Stephens, D., & Bar-Or, A. (2007b).
Clinical features and viral serologies in children with

multiple sclerosis: A multinational observational
study. Lancet Neurology, 6, 773781.
Banwell, B., Tenembaum, S., Lennon, V. A., Ursell, E.,
Kennedy, J., Bar-Or, A., Weinshenker, B. G., Lucchinetti, C. F., & Pittock, S. J. (2008). Neuromyelitis
optica-IgG in childhood inflammatory demyelinating
CNS disorders. Neurology, 70, 344352.
Banwell, B., Kennedy, J., Sadovnick, D., Arnold, D.
L., Magalhaes, S., Wambera, K., Connolly, M. B.,
Yager, J., Mah, J. K., Shah, N., Sebire, G., Meaney,
B., Dilenge, M. E., Lortie, A., Whiting, S., Doja, A.,
Levin, S., MacDonald, E. A., Meek, D., Wood, E.,
Lowry, N., Buckley, D., Yim, C., Awuku, M., Guimond, C., Cooper, P., GrandMaison, F., Baird, J. B.,
Bhan, V., & Bar-Or, A. (2009). Incidence of acquired
demyelination of the CNS in Canadian children. Neurology, 72, 232239.
Blomquist, K. B. (2006). Health, education, work, and
independence of young adults with disabilities. Orthopaedic Nursing, 25, 168187.
Boiko, A., Vorobeychik, G., Paty, D., Devonshire, V.,
Sadovnick, D., & University of British Columbia MS
Clinic Neurologists (2002a). Early onset multiple sclerosis: A longitudinal study. Neurology, 59, 10061010.
Boiko, A. N., Gusev, E. I., Sudomoina, M. A., Alekseenkov, A. D., Kulakova, O. G., Bikova, O. V., Maslova,
O. I., Guseva, M. R., Boiko, S. Y., Guseva, M. E., &
Favorova, O. O. (2002b). Association and linkage of
juvenile MS with HLA-DR2(15) in Russians. Neurology, 58, 658660.
Byrd, R. S., & Weitzman, M. L. (1994). Predictors of
early grade retention among children in the United
States. Pediatrics, 93, 481487.
Callen, D. J., Shroff, M. M., Branson, H. M., Lotze, T., Li,
D. K., Stephens, D., & Banwell, B. L. (2009) MRI in
the diagnosis of pediatric multiple sclerosis. Neurology, 72, 961967.
Chabas, D., Ness, J., Belman, A., Yeh, E. A., Kuntz, N.,
Gorman, M. P., Strober, J. B., De Kouchkovsky, I.,
McCulloch, C., Chitnis, T., Rodriguez, M., Weinstock-Guttman, B., Krupp, L. B., Waubant, E., &
U.S. Network of Pediatric MS Centers of Excellence.
(2010). Younger children with MS have a distinct CSF
inflammatory profile at disease onset. Neurology, 74,
399405.
Clerico, M., Barbero, P., Contessa, G., Ferrero, C., &
Durelli, L. (2007). Adherence to interferon-beta treatment and results of therapy switching. Journal of the
Neurological Sciences, 259, 104108.
Cohen, B. A., & Rieckmann, P. (2007). Emerging oral
therapies for multiple sclerosis. International Journal
of Clinical Practice, 61, 19221930.
Collet, D. (1997). Time-dependent variables. In D. Collet (Ed.), Modelling survival data in medical research.
London: Chapman and Hall.
Confavreux, C., Hutchinson, M., Hours, M. M., Cortinovis-Tourniaire, P., Moreau, T., & Pregnancy in
Multiple Sclerosis Group. (1998). Rate of pregnancyrelated relapse in multiple sclerosis. The New England
Journal of Medicine, 339, 285291.
227
Costello, I., Wong, I. C., & Nunn, A. J. (2004). A literature
review to identify interventions to improve the use of
medicines in children. Child Care Health and Development, 30, 647665.
Cox, D. R. (1972) Regression models and life tables (with
discussion). Journal of the Royal Statistical Society:
Series B, 34, 187202.
Dale, R. C., de Sousa, C., Chong, W. K., Cox, T. C., Harding, B., & Neville, B. G. (2000). Acute disseminated
encephalomyelitis, multiphasic disseminated encephalomyelitis and multiple sclerosis in children. Brain,
123, 24072422.
Dean, G., & Elian, M. (1997). Age at immigration to England of Asian and Caribbean immigrants and the risk
of developing multiple sclerosis. Journal of Neurology, Neurosurgery and Psychiatry, 63, 565568.
Dyment, D. A., Ebers, G. C., & Sadovnick, A. D. (2004).
Genetics of multiple sclerosis. Lancet Neurology, 3,
104110.
Ghezzi, A., Amato, M. P., Capobianco, M., Gallo, P.,
Marrosu, G., Martinelli, V., Milani, N., Milanese, C.,
Moiola, L., Patti, F., Pilato, V., Pozzilli, C., Trojano,
M., Zaffaroni, M., & Comi, G. (2005a). Disease-modifying drugs in childhood-juvenile multiple sclerosis:
Results of an Italian co-operative study. Multiple Sclerosis, 11, 420424.
Ghezzi, A., & ITEMS (Immunomodulatory Treatment of
Early Onset MS) Group. (2005b). Immunomodulatory
treatment of early onset multiple sclerosis: Results of
an Italian Co-operative Study. Neurological Sciences,
26, 183186.
Ghezzi, A., Amato, M. P., Annovazzi, P., Capobianco,
M., Gallo, P., La Mantia, L., Marrosu, M. G., Martinelli, V., Milani, N., Moiola, L., Patti, F., Pozzilli,
C., Trojano, M., Zaffaroni, M., Comi, G., & ITEMS
(Immunomodulatory Treatment of Early-onset MS)
Group. (2009). Long-term results of immunomodulatory treatment in children and adolescents with multiple sclerosis: The Italian experience. Neurological
Sciences, 30, 193199.
Hahn, C. D., Shroff, M. M., Blaser, S. I., & Banwell, B. L.
(2004). MRI criteria for multiple sclerosis: Evaluation
in a pediatric cohort. Neurology, 62, 806808.
Hernn, M. A., Olek, M. J., & Ascherio, A. (2001). Cigarette smoking and incidence of multiple sclerosis.
American Journal of Epidemiology, 154, 6974.
Hernn, M. A., Jick, S. S., Olek, M. J., & Jick, H. (2004).
Recombinant hepatitis B vaccine and the risk of multiple sclerosis: A prospective study. Neurology, 63,
838842.
Huppke, P., Stark, W., Zrcher, C., Huppke, B., Brck,
W., & Grtner, J. (2008). Natalizumab use in pediatric multiple sclerosis. Archives of Neurology, 65,
16551658.
Hynson, J. L., Kornberg, A. J., Coleman, L. T., Shield,
L., Harvey, A. S., and Kean, M. J. (2001). Clinical and neuroradiologic features of acute disseminated encephalomyelitis in children. Neurology, 56,
13081312.
228
Julian, L. J., Vella, L., Vollmer, T., Hadjimichael, O., &
Mohr, D. C. (2008). Employment in multiple sclerosis. Exiting and re-entering the work force. Journal of
Neurology, 255, 13541360.
Kappos, L., Traboulsee, A., Constantinescu, C., Eralinna,
J.-P., Forrestal, F., Jongen, P., Pollard, J., SandbergWollheim, M., Sindic, C., Stubinski, B., Uitdehaag,
B., & Li, D. (2006). Long-term subcutaneous interferon beta-1a therapy in patients with relapsing-remitting MS. Neurology, 67, 944953.
Ketelslegers, I. A., Catsman-Berrevoets, C. E., Boon,
M., Eikelenboom, M. J., Stroink, H., Neuteboom, R.
F., Aarsen, F. K., van de Putte, E. M., & Hintzen, R.
Q. (2010a). Fatigue and depression in children with
multiple sclerosis and monophasic variants. European
Journal of Paediatric Neurology, 14, 320325.
Ketelslegers, I. A., Neuteboom, R. F., Boon, M., CatsmanBerrevoets, C. E., Hintzen, R. Q., & Dutch Pediatric
MS Study Group. (2010b). A comparison of MRI criteria for diagnosing pediatric ADEM and MS. Neurology, 74, 14121415.
Kornek, B., Bernert, G., Balassy, C., Geldner, J., Prayer,
D., & Feucht, M. (2003). Glatiramer acetate treatment
in patients with childhood and juvenile onset multiple
sclerosis. Neuropediatrics, 34, 120126.
Kriss, A., Francis, D. A., Cuendet, F., Halliday, A. M.,
Taylor, D. S., Wilson, J., Keast-Butler, J., Batchelor,
J. R., & McDonald, W. I. (1988). Recovery after optic
neuritis in childhood. Journal of Neurology, Neurosurgery and Psychiatry, 51, 12531258.
Krupp, L. B., Banwell, B., Tenembaum, S., & International Pediatric MS Study Group. (2007). Consensus
definitions proposed for pediatric multiple sclerosis
and related disorders. Neurology, 68, S7S12.
Kyngs, H., Duffy, M. E., & Kroll, T. (2000). Conceptual
analysis of compliance. Journal of Clinical Nursing,
9, 512.
Larocca, N., Kalb, R., Scheinberg, L., & Kendall, P.
(1985). Factors associated with unemployment of
patients with multiple sclerosis. Journal of Chronic
Diseases, 38, 203210.
Lennon, V. A., Kryzer, T. J., Pittock, S. J., Verkman, A.
S., & Hinson, S. R. (2005). IgG marker of optic-spinal multiple sclerosis binds to the aquaporin-4 water
channel. The Journal of Experimental Medicine, 202,
473477.
Lucchinetti, C. F., Kiers, L., ODuffy, A., Gomez, M. R.,
Cross, S., Leavitt, J. A., OBrien, P., & Rodriguez,
M. (1997). Risk factors for developing multiple sclerosis after childhood optic neuritis. Neurology, 49,
14131418.
MacAllister, W. S., Belman, A. L., Milazzo, M., Weisbrot,
D. M., Christodoulou, C., Scherl, W. F., Preston, T.
E., Cianciulli, C., & Krupp, L. B. (2005). Cognitive
functioning in children and adolescents with multiple
sclerosis. Neurology, 64, 14221425.
MacAllister, W. S., Christodoulou, C., Troxell, R.,
Milazzo, M., Block, P., Preston, T. E. , Bender, H. A.,
Belman, A., & Krupp, L. B. (2009). Fatigue and qual-
Y. Mikaeloff
ity of life in pediatric multiple sclerosis. Multiple Sclerosis, 15, 15021508.
Makhani, N., Gorman, M. P., Branson, H. M., Stazzone,
L., Banwell, B. L., & Chitnis, T. (2009). Cyclophosphamide therapy in pediatric multiple sclerosis. Neurology, 72, 20762082.
Marrie, R. A. (2004). Environmental risk factors in multiple sclerosis aetiology. Lancet Neurology, 3, 709718.
McDonald, W. I., Compston, A., Edan, G., Goodkin, D.,
Hartung, H.-P., Lublin, F. D., McFarland, H. F., Paty,
D. W., Polman, C. H., Reingold, S. C., Sandberg-Wollheim, M., Sibley, W., Thompson, A., Van Den Noort,
S., Weinshenker, B. Y., & Wolinsky, J. S. (2001). Recommended diagnostic criteria for multiple sclerosis:
Guidelines from the international panel on the diagnosis of multiple sclerosis. Annals of Neurology, 50,
121127.
McKeon, A., Lennon, V. A., Lotze, T., Tenembaum,
S., Ness, J. M., Rensel, M., Kuntz, N. L., Fryer, J.
P., Homburger, H., Hunter, J., Weinshenker, B. G.,
Krecke, K., Lucchinetti, C. F., & Pittock, S. J. (2008).
CNS aquaporin-4 autoimmunity in children. Neurology, 71, 93100.
McLaughlin, K. A., Chitnis, T., Newcombe, J., Franz,
B., Kennedy, J., McArdel, S., Kuhle, J., Kappos, L.,
Rostasy, K., Pohl, D., Gagne, D., Ness, J. M., Tenembaum, S., OConnor, K. C., Viglietta, V., Wong, S. J.,
Tavakoli, N. P., de Seze, J., Idrissova, Z., Khoury, S. J.,
Bar-Or, A., Hafler, D. A., Banwell, B., & Wucherpfennig, K. W. (2009). Age-dependent B cell autoimmunity to a myelin surface antigen in pediatric multiple
sclerosis. Journal of Immunology, 183, 40674076.
Mikaeloff, Y., Moreau, T., Debouverie, M., Pelletier, J.,
Lebrun, C., Gout, O., Pedespan, J.-M., Van Hulle, C.,
Vermersch, P., & Ponsot, G. (2001). Interferon treatment in patients with childhood onset multiple sclerosis. Journal of Pediatric, 139, 443446.
Mikaeloff, Y., Suissa, S., Vallee, L., Lubetzki, C., Ponsot,
G., Confavreux, C., Tardieu, M., & KIDMUS Study
Group. (2004a). First episode of acute inflammatory
demyelination in childhood: Prognostic factors for
multiple sclerosis and disability. Journal of Pediatric,
144, 246252.
Mikaeloff, Y., Adamsbaum, C., Husson, B., Vallee, L.,
Ponsot, G., Confavreux, C., Tardieu, M., Suissa, S., &
KIDMUS Study Group on Radiology. (2004b). MRI
prognostic factors for relapse after a first episode of
acute CNS inflammatory demyelination in childhood.
Brain, 127, 19421947.
Mikaeloff, Y., Caridade, G., Assi, S., Suissa, S., & Tardieu, M. (2006). Prognostic factors and early severity
score in a cohort of childhood multiple sclerosis. Pediatrics, 118, 11331139.
Mikaeloff, Y., Caridade, G., Husson, B., Suissa, S., Tardieu, M., & Neuropediatric KIDSEP Study Group of
the French Neuropediatric Society. (2007a). Acute disseminated encephalomyelitis cohort study: Prognostic
factors for relapse. European Journal of Paediatric

Mikaeloff, Y., Caridade, G., Assi, S., Tardieu, M., Suissa,
S., & KIDSEP study group of the French Neuropaediatric Society. (2007b). Hepatitis B vaccine and risk of
relapse after a first childhood episode of CNS inflammatory demyelination. Brain, 130, 11051110.
Mikaeloff, Y., Caridade, G., Rossier, M., Suissa, S., &
Tardieu, M. (2007c). Hepatitis B vaccination and the
risk of childhood-onset multiple sclerosis. Archives of
Pediatrics & Adolescent Medicine, 161, 11761182.
Mikaeloff, Y., Caridade, G., Tardieu, M., Suissa, S., &
KIDSEP study group. (2007d). Parental smoking at
home and the risk of childhood-onset multiple sclerosis in children. Brain, 130, 25892595.
Mikaeloff, Y., Caridade, G., Rossier, M., Tardieu, M.,
Suissa, S., & KIDSEP Study Group of the French
Neuropediatric Society. (2008). Effectiveness of early
beta interferon on the first attack after confirmed multiple sclerosis: A comparative cohort study. European
Journal of Paediatric Neurology, 12, 205209.
Mikaeloff, Y., Caridade, G., Suissa, S., Tardieu, M., &
KIDSEP Study Group. (2009). Clinically observed
chickenpox and the risk of childhood-onset multiple
sclerosis. American Journal of Epidemiology, 169,
12601266.
Mikaeloff, Y., Caridade, G., Billard, C., Bouyer, J., &
Tardieu, M. (2010a). School performance in a cohort
of children with CNS inflammatory demyelination.
European Journal of Paediatric Neurology, 14,
418424.
Mikaeloff, Y., Dale, R. C., & Tardieu, M. (2010b). Childhood multiple sclerosis. In: R. C. Dale & A. Vincent
(Eds.), Inflammatory and autoimmune disorders of the
nervous system in children (pp.4864). London: Mac
Keith Press.
Mowry, E. M., Krupp, L. B., Milazzo, M., Chabas, D.,
Strober, J. B., Belman, A. L., McDonald, J. C., Oksenberg, J. R., Bacchetti, P., & Waubant, E. (2010).
Vitamin D status is associated with relapse rate in
pediatric-onset multiple sclerosis. Annals of Neurology, 67, 618624.
Munger, K. L., Levin, L. I., Hollis, B. W., Howard, N.
S., & Ascherio, A. (2006). Serum 25-hydroxyvitamin
D levels and risk of multiple sclerosis. Journal of the
American Medical Association, 296, 28322838.
Noronha, A. (2007). Neutralizing antibodies to interferon.
Noseworthy, J. H., Lucchinetti, C., Rodriguez, M., &
Weinshenker, B. G. (2000) Multiple sclerosis. The
OConnor, R. J., Cano, S. J., Ramio, I., Torrenta, L.,
Thompson, A. J., & Playford, E. D. (2005). Factors
influencing work retention for people with multiple
sclerosis: Cross-sectional studies using qualitative
and quantitative methods. Journal of Neurology, 252,
892896.
OConnor, K. C., Lopez-Amaya, C., Gagne, D., Lovato,
L., Moore-Odum, N. H., Kennedy, J., Krupp, L., Tenembaum, S., Ness, J., Belman, A., Boyko, A., Bykova,
O., Mah, J. K., Stoian, C. A., Waubant, E., Kremenchutzky, M., Ruggieri, M., Bardini, M. R., Rensel,
229
M., Hahn, J., Weinstock-Guttman, B., Yeh, E. A., Farrell, K., Freedman, M. S., Iivanainen, M., Bhan, V.,
Dilenge, M., Hancock, M. A., Gano, D., Fattahie, R.,
Kopel, L., Fournier, A. E., Moscarello, M., Banwell,
B., & Bar-Or, A. (2010). Anti-myelin antibodies modulate clinical expression of childhood multiple sclerosis. Journal of Neuroimmunology, 223, 9299.
Ohlenbusch, A., Pohl, D., & Hanefeld, F. (2002). Myelin
oligodendrocyte gene polymorphisms and childhood
multiple sclerosis. Pediatric Research, 52, 175179.
Pagani, L., Tremblay, R. E., Vitaro, F., Boulerice, B.,
& McDuff, P. (2001). Effects of grade retention on
academic performance and behavioral development.
Development and Psychopathology, 13, 297315.
Pfleger, C. C., Flachs, E. M., & Koch-Henriksen, N.
(2010). Social consequences of multiple sclerosis (1):
Early pension and temporary unemploymenta historical prospective cohort study. Multiple Sclerosis,
16, 121126.
PISA: Programme for International Student Assessment.
(2007). In: OECDs (Ed.). http://www.oecd.org/docume
nt/31/0,3343,fr_2649_34487_39720927_1_1_1_1,00.
html.
Pohl, D. (2008). Epidemiology, immunopathogenesis
and management of pediatric central nervous system inflammatory demyelinating conditions. Current
Opinion in Neurology, 21, 366372.
Pohl, D., Rostasy, K., Reiber, H., & Hanefeld, F. (2004).
CSF characteristics in early-onset multiple sclerosis.
Neurology, 63, 19661967.
Pohl, D., Rostasy, K., Grtner, J., & Hanefeld, F. (2005).
Treatment of early onset multiple sclerosis with subcutaneous interferon beta-1-a. Neurology, 64, 888890.
Pohl, D., Krone, B., Rostasy, K., Kahler, E., Brunner, E.,
Lehnert, M., Wagner, H. J., Grtner, J., & Hanefeld,
F. (2006). High seroprevalence of Epstein-Barr virus
in children with multiple sclerosis. Neurology, 67,
20632065.
Polman, C. H., Reingold, S. C., Edan, G., Filippi, M., Hartung, H.-P., Kappos, L., Lublin, F. D., Metz, L. M.,
McFarland, H. F., OConnor, P. W., Sandberg-Wollheim, M., Thompson, A. J., Weinshenker, B. G., &
Wolinsky, J. S. (2005). Diagnostic criteria for multiple
sclerosis: 2005 revisions to the McDonald criteria.
Annals of Neurology, 58, 840846.
Pritchard, M. T., Butow, P. N., Stevens, M. M., & Duley,
J. A. (2006). Understanding medication adherence
in pediatric acute lymphoblastic leukemia: A review.
Journal of Pediatric Hematology Oncology, 28,
816823.
Rapoff, M. A. (2006). Management of adherence and
chronic rheumatic disease in children and adolescents.
Best Practice & Research: Clinical Rheumatology, 20,
301314.
Renoux, C., Vukusic, S., Mikaeloff, Y., Edan, G., Clanet,
M., Dubois, B., Debouverie, M., Brochet, B., LebrunFrenay, C., Pelletier, J., Moreau, T., Lubetzki, C., Vermersch, P., Roullet, E., Magy, L., Tardieu, M., Suissa,
S., Confavreux, C. &, Adult Neurology Departments
KIDMUS Study Group. (2007). Natural history of
230
multiple sclerosis with childhood onset. The New England Journal of Medicine, 356, 26032613.
Riikonen, R., Ketonen, L., & Sipponen, J. (1988). Magnetic resonance imaging, evoked responses and
cerebrospinal fluid findings in a follow-up study of
children with optic neuritis. Acta Neurologica Scandinavica, 77, 4449.
Riise, T., Norvtvedt, M. W., & Ascherio, A. (2003).
Smoking is a risk factor for multiple sclerosis. Neurology, 61, 11221124.
Rostasy, K., Reiber, H., Pohl, D., Lange, P., Ohlenbusch,
A., Eiffert, H., Maass, M., & Hanefeld, F. (2003).
Chlamydia pneumoniae in children with MS: Frequency and quantity of intrathecal antibodies. Neurology, 61, 125128.
Sabbagh, S. E., Soria, C., Escolano, S., Bulteau, C., &
Dellatolas, G. (2006). Impact of epilepsy characteristics and behavioral problems on school placement in
children. Epilepsy & Behavior, 9, 573578.
Sadovnick, A. D., Armstrong, H., Rice, G. P., Bulman,
D., Hashimoto, I., Paty, D. W., Hashimoto, S. A.,
Warren, S., Hader, W., Murray, T. J., Seland, T. P.,
Metz, L., Bell, R., Duquette, P., Gray, T., Nelson, R.,
Weinshenker, B., Brunet, D., & Ebers, G. C. (1993). A
population-based study of multiple sclerosis in twins:
Update. Annals of Neurology, 33, 281285.
Salter, A. R., Cutter, G. R., Tyry, T., Marrie, R. A., &
Vollmer, T. (2010). Impact of loss of mobility on
instrumental activities of daily living and socioeconomic status in patients with MS. Current Medical
Research and Opinion, 26, 493500.
Serafini, B., Rosicarelli, B., Franciotta, D., Magliozzi,
R., Reynolds, R., Cinque, P., Andreoni, L., Trivedi, P.,
Salvetti, M., Faggioni, A., & Aloisi, F. (2007). Dysregulated Epstein-Barr virus infection in the multiple
sclerosis brain. The Journal of Experimental Medicine, 204, 28992912.
Shaw, R. J., Palmer, L., Blasey, C., & Sarwal, M. (2003).
A typology of non-adherence in pediatric renal
Y. Mikaeloff
transplant recipients. Pediatric Transplantation, 7,
489493.
Simone, I. L., Carrara, D., Tortorella, C., Liguori, M.,
Lepore, V., Pellegrini, F., Bellacosa, A., Ceccarelli, A.,
Pavone, I., & Livrea, P. (2002). Course and prognosis in early-onset MS: Comparison with adult-onset
forms. Neurology, 59, 19221928.
Strom, B. L. (2005). Pharmacoepidemiology (4th ed.).
Chichester: Wiley.
Tenembaum, S. N., & Segura, M. J. (2006). Interferon
beta-1a treatment in childhood and juvenile-onset
multiple sclerosis. Neurology, 67, 511513.
Tenembaum, S. N, Chamoles, N., & Fejerman, N. (2002).
Acute disseminated encephalomyelitis: A long-term
follow-up study of 84 pediatric patients. Neurology,
59, 12241231.
Thannhauser, J. E., Mah, J. K., & Metz, L. M. (2009).
Adherence of adolescents to multiple sclerosis disease-modifying therapy. Pediatric Neurology, 41,
119123.
Treadaway, K., Cutter, G., Salter, A., Lynch, S., Simsarian, J., Corboy, J., Jeffery, D., Cohen, B., Mankowski,
K., Guarnaccia, J., Schaeffer, L., Kanter, R., Brandes,
D., Kaufman, C., Duncan, D., Marder, E., Allen, A.,
Harney, J., Cooper, J., Woo, D., Stuve, O., Racke,
M., & Frohman, E. M. (2009). Factors that influence
adherence with disease-modifying therapy in MS.
Journal of Neurology, 256, 568576.
Wilejto, M., Shroff, M., Buncic, J. R., Kennedy, J., Goia,
C., & Banwell, B. (2006). The clinical features, MRI
findings, and outcome of optic neuritis in children.
Yeh, E. A., Chitnis, T., Krupp, L., Ness, J., Chabas, D.,
Kuntz, N., Waubant, E., & U.S. Network of Pediatric Multiple Sclerosis Centers of Excellence. (2009).
Pediatric multiple sclerosis. Nature Reviews Neurology, 5, 621631.
Fetal Alcohol Spectrum Disorders:

Review of Teratogenicity,
Diagnosis and Treatment Issues
12
Jacquelyn Bertrand and Elizabeth Parra Dang
Abstract
Despite the known adverse effects of prenatal exposure to alcohol, many

children who experience these adverse effects do not receive proper diagnosis. Current conceptualizations of the harmful results of in utero alcohol
exposure are a continuum or spectrum of disorders or diagnoses, including: fetal alcohol syndrome, partial fetal alcohol syndrome (pFAS), alcohol-related birth defects (ARBD), and alcohol-related neurodevelopmental disorder (ARND). A more recent term that has been introduced is fetal
alcohol spectrum disorders (FASD). In this chapter, we discuss diagnosis,
treatments, and approaches for optimal health outcomes for children with
FASD. While the number and severity of negative effects can range from
subtle to serious, the negative consequences are lifelong. By strengthening families and caregivers through education, advocacy, and programs,
there will be not only benefit to individuals living with an FASD, but also
families and communities at large.
Abbreviations
ADHD Attention-Deficit/Hyperactivity Disorder

ARBD Alcohol-Related Birth Defect
ARND Alcohol-Related Neurdevelopmental Disorder
CDC Centers for Disease Control and Prevention
CNS Central Nervous System
DTI Diffusion Tensor Imaging
FAS Fetal Alcohol Syndrome
FASD Fetal Alcohol Spectrum Disorders
MRI Magnetic Resonance Imaging
NIH National Institutes of Health
J. Bertrand () E. P. Dang
Centers for Disease Control and Prevention, National
Center on Birth Defects and Developmental Disabilities,
1600 Clifton Road, NE, GA 30333, Atlanta, USA
e-mail: jbertrand@cdc.gov
E. P. Dang
e-mail: EDang@cdc.gov
231
232
OFC Occipitofrontal Circumference

(Head Circumference)
pFAS Partial Fetal Alcohol Syndrome
NOFAS National Organization on Fetal
Alcohol Syndrome
SAMHSA Substance Abuse and Mental
Health Services Administration
12.1Introduction
Alcohol is a teratogen. Teratogens are substances that are capable of altering cell size, form, or
function. Substantial empirical and clinical scientific evidence, both with human beings and
animals, has shown that prenatal exposure to alcohol causes damage to the developing embryo
and fetus, resulting in physical malformations,
growth retardation, abnormal functioning of the
central nervous system (CNS), or a combination
of these. These negative effects are serious and
can result in conditions known as fetal alcohol
spectrum disorders (FASDs).1 While the number
and severity of negative effects can range from
subtle to serious, the negative consequences are
lifelong. Such exposure is commonly cited as a
leading preventable cause of birth defects and
developmental disabilities (Stratton etal. 1996).
The effects of prenatal exposure to alcohol and basic diagnostic features of fetal alcohol syndrome (FAS) were first described in the
medical literature in France in the late 1960s by
Lemoine etal. (1968). A few years later, a fuller
description was published in US medical literature (Jones and Smith 1973, Jones et al. 1973).
In 1981, the US Surgeon General issued a public
health advisory warning that alcohol use during
pregnancy could cause birth defects; this advisory was reissued in 2005. Despite the known
adverse effects of prenatal exposure to alcohol,
many children who experience these adverse ef1
Throughout this chapter, the terms FAS and FASDs

are used. While FASDs is the default term, FAS is used
when referring to diagnostic criteria specifically for fetal
alcohol syndrome, when discussing findings from specific
studies that denoted FAS without reference to the spectrum (especially older studies before the term FASDs was
adopted) and widely cited prevalence rates.
J. Bertrand and E. P. Dang
fects do not receive proper diagnosis. Current

conceptualizations of the harmful results of in
utero alcohol exposure2 are a continuum or spectrum of disorders or diagnoses, including: fetal
alcohol syndrome, partial fetal alcohol syndrome
(pFAS), alcohol-related birth defects (ARBD),
and alcohol-related neurodevelopmental disorder (ARND). A more recent term that has been
introduced is fetal alcohol spectrum disorders
(FASD). In April 2004, several federal agencies
(National Institutes of Health (NIH), Centers
for Disease Control and Prevention (CDC), and
Substance Abuse and Mental Health Services
Administration (SAMHSA)) along with experts
in the field were convened by the National Organization on Fetal Alcohol Syndrome (NOFAS) to
develop a uniform definition of FASD. The definition adopted is as follows:
Fetal alcohol spectrum disorders (FASDs) is an
umbrella term describing the range of effects that
can occur in an individual whose mother drank
alcohol during pregnancy. These effects may
include physical, mental, behavioral, and/or learning disabilities with possible lifelong implications.
The term FASD is not intended for use as a clinical
diagnosis. (Warren etal. 2004)
Although FASDs are commonly thought of as

rare disorders, this is a misconception. Estimates,
using a variety of case identification methods,
range from less than 1 to 11 cases per 1,000 live
births or children depending on methodology
(CDC 2002; May etal. 2009). Thus, rates of this
disorder are similar to those reported for other developmental disabilities such as Down syndrome
or spina bifida (Mirkes 2003; Shin etal. 2010).
Issues regarding prevalence and a child being at
risk for an FASD diagnosis due to prenatal alcohol exposure are discussed in a later section.
This chapter provides a brief review of what is
known about FASDs with emphasis on diagnostic features of FAS, particularly central nervous
system (CNS) deficits. Specificity of alcohol as a
teratogen from both animal and human neuroimaging literature is presented. We include a section
on other diagnoses within the spectrum of FASDs,
2 The phrase in utero alcohol exposure is used interchangeably with the more traditional phrase prenatal alcohol exposure.
12 Fetal Alcohol Spectrum Disorders: Review of Teratogenicity, Diagnosis and Treatment Issues
however, many of these disorders are less well

characterized with less specificity in diagnosis.
Because mental health issues are emerging as an
important area to consider for individuals with
an FASD and not currently part of the diagnostic
criteria, they are discussed separately. Finally, we
provide information on effective treatments and
interventions for individuals with an FASD as well
as family issues. We conclude with suggestions for
next steps, as outlined by the National Task Force
on Fetal Alcohol Syndrome and Fetal Alcohol Effect: A Call to Action: Advancing Essential Services and Research on Fetal Alcohol Spectrum
Disorders (Carmichael-Olson etal. 2009a).
12.2Evidence of Brain Damage

Associated with Prenatal
Alcohol Exposure from
Neuroimaging and Animal
Studies
As noted in the Introduction, there is an abundance of scientific literature demonstrating the
teratogenic effects of alcohol in both animals and
humans, including neuroimaging studies. Studies
using animal models are particularly useful for
establishing the role of prenatal alcohol exposure
since dose, timing, and pattern can be controlled,
unlike what can be achieved in human studies.
Animal studies are particularly useful for demonstrating that the cognitive and behavioral deficits
observed for individuals with FASDs arise from
the brain damage resulting from in utero exposure to alcohol rather than other environmental
or parenting factors, a persistent misconception
(Riley and McGee 2005). Neuroimaging basic
research studies expand this knowledge base and
bring these data, findings, and procedures closer
to clinical utility. Although a thorough review
of these vast literatures is beyond the scope of
this chapter, we briefly review some of the major
findings from these lines of research to elucidate
three aspects: (1) impact of prenatal alcohol exposure on brain volume, (2) impact on specific
brain regions, and (3) impact on brain physiology. For more detailed reviews of these literatures,
see Norman etal. (2009).
233
12.2.1Brain Volume
One of the most consistent findings is a reduction
of overall brain size with prenatal exposure to alcohol including both animals and humans. Earliest reports, based on autopsy findings, indicated
severe microcephaly of infants and children with
very heavy prenatal alcohol exposure (Clarren
1986; Jones and Smith 1973, Jones etal. 1973).
Use of neuroimaging techniques, such as magnetic resonance imaging (MRI), has documented
this reduction in greater detail (for reviews see
Riley and McGee 2005 and Norman etal. 2009).
Researchers have reported adolescents and adults
with in utero alcohol exposure had up to a 13%
reduction in cranial volume compared to nonexposed controls (Mattson etal. 1994). Some structures such as the basal ganglia, cerebellum, and
corpus callosum are disproportionally affected.
The consistency of these findings, in both animal
and human studies, has been reflected across diagnostic schemes through structural, neurologic,
or functional CNS abnormality components.
12.2.2Brain Regions
Studies have consistently shown not only reduction in overall size as a result of prenatal alcohol
exposure, but also changes in the shape and altered division of tissue across critical substructures (Autti-Ramo et al. 2002; Bhatara et al.
2002; Johnson et al. 1996; Riley et al. 1995;
Sowell et al. 2001). The most researched structure of the brain is the corpus callosum. The
corpus callosum serves as a bridge between the
two hemispheres of the brain and is central to the
exchange and integration of information across
the hemispheres. In a small number of cases of
individuals with heavy in utero exposure to alcohol, there has been reported complete or partial
agenesis of the corpus callosum (Mattson et al.
1992; Riley et al. 1995; Swayze et al. 1997).
Functionally, disruptions in the corpus callosum
can manifest as difficulty in most domains such
as learning, memory, attention, executive functioning, or coordinated motor activity (Norman
etal. 2009).
234
Another structure that has received a good

deal of research attention is the cerebellum. The
cerebellum receives neuroimpulses from several
sensory systems, including the vestibular system. Thus, this structure of the hindbrain is associated with equilibrium, motor reflexes (Kolb
and Whishaw 1995), other motor functions
(Roebuck etal. 1998), attention (Mattson etal.
2006), and several learning processes (Jacobson
etal. 2008; Woodruff-Pak etal. 2000). Individuals with the full FAS diagnosis and individuals
with in utero exposure without the full syndrome have been shown to have both decreased
cerebellar surface and volume (Archibald etal.
2001; Autti-Ramo et al. 2002; Mattson et al.
1992, 1994; Norman etal. 2009). These decreases may be more localized to the earlier forming
structures that connect the left and right sides of
the cerebellum (i.e., anterior vermis) rather than
the later forming cerebellar structures (i.e., posterior vermis). This emphasizes the increased
vulnerability of brain structures during early
fetal development.
Finally, the basal ganglia are associated with
both motor movement and mediation of emotional expression (Cytowic 1996). In studies that
control for overall brain size of children and adolescents with FASDs, the caudate nucleus (a concentration of dopamine neurons within the basal
ganglia) primarily accounts for the observed reductions (Mattson et al. 1992, 1994, 1996; Archibald et al. 2001). Furthermore, direct correspondences between caudate volume reductions
and deficits in measures of inhibition, verbal
skills, and motor control problems have been reported (Mattson etal. 2001; Adnams etal. 2001;
Kraft etal. 2007).
pulses, resulting from less than optimal organization of white matter and impaired communication between brain structures (Ma etal. 2005;
Fryer etal. 2009; Lebel etal. 2008) for individuals with in utero alcohol exposure compared to
nonexposed controls. Structures implicated by
these findings replicate findings from MRI studies, reviewed above, such as the corpus callosom
(Sowell etal. 2008; Wozniak etal. 2006). Using
positron emission tomography, Clark et al.
(2000) found decreased glucose metabolism by
the brain of adolescents and adults with FAS.
Riikonen etal. (1999, 2005) demonstrated lower
levels of serotonin transport using single photon
emission computed tomography. Finally, animal
studies also have revealed disruptions in the endocrine functioning of offspring who experience
in utero alcohol exposures, particularly related
to functioning of the hypothalamus (Weinberg
et al. 2008). Specifically, in rodent models,
alcohol-exposed neonates showed evidence of
abnormal activation of their endocrine system
(e.g., increased levels of corticosterone), possibly resulting in delayed maturation of hormone
homeostasis (Gabriel etal. 1998). For more detail on these studies of brain physiology differences for individuals with an FASD, see Norman
etal. (2009).
These studies clearly demonstrate that in utero
exposure to alcohol has potentially severe and
negative consequences for a developing fetus resulting in deficits of overall brain size, abnormalities of specific brain structures, and changes in
brain physiology. These aspects of brain damage
have been linked to deficits of skills and impaired
behaviors. These functional deficits are reviewed
in the next section.
12.2.3Brain Physiology
12.3Diagnosis of FAS
A more recent line of research investigates abnormal brain physiology in individuals with in
utero alcohol exposure using very sophisticated
technologies. The movement of water molecules, as measured by diffusion tensor imaging
(DTI), indicates increased diffusion of neuroim-
Presently, four commonly reported schemes for

diagnosis of FAS are available: Institute of Medicine (Stratton etal. 1996); 4-Digit Code (Astley
2004); Hoyme et al. (2005); and the National
Task Force on Fetal Alcohol Syndrome and Fetal
Alcohol Effect diagnostic guidelines (Bertrand
235
Table 12.1 Brief outline of guidelines for diagnosis of FAS from the national task force on Fetal Alcohol Syndrome
and Fetal Alcohol Effect
Facial dysmorphia
Based on racial norms, individual exhibits all three characteristic facial features:
Smooth philtrum (University of Washington Lip-Philtrum Guide rank 4 or 5)
Thin vermillion border (University of Washington Lip-Philtrum Guide rank 4 or 5)
Small palpebral fissures (at or below 10th percentile)
Growth problems
Confirmed prenatal or postnatal height or weight, or both, at or below the 10th percentile, documented at any one
point in time (adjusted for age, sex, gestational age, and race or ethnicity)
Central nervous system abnormalities
I. Structural
1. Head circumference (OFC) at or below the 10th percentile adjusted for age and sex
2. Clinically significant brain abnormalities observable through imaging
II. Neurological
Neurological problems not due to a postnatal insult or fever, or other soft neurological signs outside normal
limits
III. Functional
Performance substantially below that expected for an individuals age, schooling, or circumstances, as evidenced
by:
1. Global cognitive or intellectual deficits representing multiple domains of deficit (or significant developmental
delay in younger children) with performance below the 3rd percentile (2 standard deviations below the mean
for standardized testing)
Or
2. Functional deficits below the 16th percentile (1 standard deviation below the mean for standardized testing) in
at least three of the following domains:
a. cognitive or developmental deficits or discrepancies
b. executive functioning deficits
c. motor functioning delays
d. problems with attention or hyperactivity
e. social skills
f. other, such as sensory problems, pragmatic language problems,memory deficits, etc.
Maternal alcohol exposure
I. Confirmed prenatal alcohol exposure
II. Unknown prenatal alcohol exposure
Criteria for FAS diagnosis
Requires all three of the following findings:
1. Documentation of all three facial abnormalities (smooth philtrum, thin vermillion border, and small palpebral
fissures)
2. Documentation of growth deficits
3. Documentation of CNS abnormality
etal. 2004; CDC 2005). Despite minor differences for inclusion and exclusion at both ends of the
spectrum, all four diagnostic schemes delineate
four areas of consideration to meet the criteria
for an FAS diagnosis: in utero alcohol exposure,
dysmorphology, growth retardation, and abnormalities of the CNS. Because of their representativeness, guidelines established by the National
Alcohol Effect are presented in Table 12.1. Each
area is reviewed in turn.
12.3.1Exposure
Documentation and confirmation of prenatal alcohol exposure is an initial step in the evaluation
and assessment process, but can be extremely
challenging. Many clinicians are hesitant or have
difficulty asking mothers about alcohol, especially about alcohol use during pregnancy, since it is
a legal substance readily accepted by society. For
birth mothers, admitting alcohol use during pregnancy can be very stigmatizing. The situation can
be further complicated if the woman is still using
236
alcohol, especially at high consumption rates.

In this situation, information about alcohol use
might need to be obtained from other reliable informants, such as a relative (Chang 2002). Even
for women who are not abusing or misusing alcohol, it is important to inquire about alcohol use.
Currently, more than half of all women of childbearing age report drinking alcohol in the past 30
days (Denny etal. 2009). Most of these women
are sexually active and might not be taking effective measures to prevent pregnancy since approximately half of all pregnancies are unplanned in
the United States (Denny etal. 2009; Finer and
Henshaw 2006). These women are at risk for
an alcohol-exposed pregnancy, which could result in a child with an FASD (Floyd etal. 2009).
Even for a planned pregnancy, in utero exposure
to alcohol can still occur early since pregnancy
recognition generally does not occur until the 4th
to 6th week of gestation (Floyd et al. 1999). A
fetus is at risk even during these initial stages of
gestation (Coles 1994). The most common situation encountered in the clinical setting is when a
child or adult is being evaluated for FAS and little
or no information about the mothers pregnancy
is available. This frequently occurs for children
in foster and adoptive homes, a common situation for children with FASDs (Astley and Clarren
1996). In this situation, efforts should be made
to obtain the necessary information, perhaps
through ancillary records (e.g., adoption reports,
child protective services assessments, etc). However, it should be noted that the lack of confirmation of alcohol use during pregnancy does not
preclude an FAS diagnosis if all other criteria are
present. Such cases would be considered to have
unknown prenatal alcohol exposure.
In very rare instances, there will be confirmed
absence of exposure. Documentation that the
birth mother did not drink any amount of alcohol from conception through birth would indicate
that an FAS diagnosis is not appropriate. This
typically implies that the birth mother knew the
date of conception (e.g., a planned pregnancy)
and did not consume alcohol from that day forward, or she was prevented from drinking for
some reason (e.g., incarceration). Although there
is consistency across diagnostic schemes that as-
sessing maternal drinking during pregnancy is

needed, specific requirements for particular diagnoses across the spectrum may differ (e.g., documentation of confirmed in utero exposure might
be required for a diagnosis of ARND but not FAS
provided all other criteria are present; Stratton
et al. 1996). Efforts to improve techniques and
identify new sources of exposure information are
priorities in the FAS field.
12.3.2Dysmorphia
Human congenital minor malformations, usually
of the face, are referred to as dysmorphic features
or dysmorphia (Aase 1990). Dysmorphia occurs
when normal morphogenesis is interrupted, creating a particular feature, which is shaped, sized, or
positioned outside the normal range of development. Alcohol is a teratogen that results in dysmorphia through interference with cell development and functioning, alterations in the ability of
cells to grow and survive, increased formation of
cell-damaging free radicals, altered pathways of
biochemical signals within cells, and altered expression of certain genes and genetic information.
In short, alcohol has been shown to interfere with
fetal cell development and function in a variety of
ways (Michaelis and Michaelis 1994; Abel 1996).
In first describing the dysmorphic features of
FAS, Jones and colleagues focused on short palpebral fissure, maxillary hypoplasia (with prognathism), and the presence of epicanthal folds
that were observed for a majority of the children
described. Other features also were noted for
some patients, including altered palmar flexion
crease patterns (i.e., hockeystick crease), cardiac
anomalies, joint abnormalities, overlapping fingers, ear anomalies, hemangiomas, ptosis, hypoplastic nails, and pectus abnormalities (Jones
and Smith 1973, Jones etal. 1973). Over the next
30 years, additional features described included:
microcephaly, short nose, smooth philtrum with
thin vermillion border, cleft lip, micrognathia,
protruding auricles, short or webbed neck, vertebra and rib anomalies, short metacarpal bones,
menigomyelocele, hydrocephalus, and hypoplastic labia majora (Jones 2006).
237
Fig. 12.1 Dysmorphic

features of Fetal Alcohol
Syndrome
Despite the heterogeneity of expression for

dysmorphic features (both in number of features
and severity of individual features) related to prenatal exposure to alcohol, core facial dysmorphic
features have emerged through human and animal studies. Experimental studies with a mouse
model and primates indicate that the facial dysmorphia observed for individuals with FAS are
the result of disturbances of cellular migration
during organogenesis along the midline of the
face (Johnson et al. 1996). Using anthropomorphic measurements of all facial features, clinical
researchers have confirmed the midline feature
abnormalities (Moore et al. 2002). Studies of
clinic-referred samples also support these features as discriminating FAS from other dysmorphic syndromes (Astley and Clarren 2001; Coles
etal. 1991). Finally, studies with fish, mice, and
other rodents have demonstrated that the craniofacial features of FAS are specific to alcohol teratogenicity (Sulik 2005; Sulik etal. 1981; Webster
etal. 1980).
Based on these scientific findings and extensive clinical experience, there is agreement
across all diagnostic schemes for the following
facial dysmorphic features to be considered the
cardinal features necessary for an FAS diagnosis (based on racial norms): (1) smooth philtrum, (2) thin vermillion border (i.e., upper lip),
and (3) small palpebral fissures. These features
are illustrated in Fig.12.1. The individual must
exhibit all three characteristic facial features;

however, additional features also can be present. For example, maxillary hypoplasia or micrognathia (small jaw) are sometimes noted for
individuals with FAS as well as those associated
features described previously. Cross-sectional
and longitudinal studies indicate that many features can change with age or development. After
puberty, the three cardinal characteristic facial
features associated with FAS can be more difficult to detect (Streissguth 1997; Clarren etal.
2010).
As with all clinical diagnoses, differential diagnosis is an essential and critical component of
the process. Individual dysmorphic features are
not unique to any particular syndrome. For example, a smooth philtrum is associated with Cornelia de Lange syndrome, a thin vermillion border
Fetal Valproate syndrome and small palpebral
fissure with Williamss syndrome. Even rare defects or certain clusters of dysmorphic features
can appear in a variety of syndromes.
Some syndromes give a gestalt that is similar to the gestalt of FAS, such as: Aarskog syndrome, Williams syndrome, Noonan syndrome,
Dubowitz syndrome, Cornelia de Lange syndrome, fetal hydantoin syndrome, fetal valproate
syndrome, maternal PKU fetal effects, and toluene embryopathy (Jones 2006). These syndromes
should be considered in particular when completing the differential diagnosis.
238
12.3.3Growth Retardation
Growth retardation, variably defined, has been
documented consistently in individuals with FAS.
However, across diagnostic schemes, a variety of
parameters (e.g., height, weight, and head circumference), severity levels (below 25th, 10th, 3rd, or
2nd percentiles), and timing of growth retardation
(current, at birth, or present at any point during
life) have been designated. The primary parameters of growth usually included in the growth
retardation criteria for FAS are a combination of
height, weight, and sometimes head circumference. Because multiple organic factors can lead
to growth deficiencies (e.g., brain structure abnormalities leading to poor skeletal growth or disruption of endocrine function leading to poor weight
gain), most children with FAS are symmetrical for
height and weight (Jacobson and Jacobson 2002).
Whether a particular diagnostic scheme sets
the threshold for growth retardation at the more
conservative 3rd percentile (e.g., Astley 2004;
Astley and Clarren 2001) or more inclusive 10th
percentile (e.g., Bertrand etal. 2004; CDC 2005)
is a reflection of the purposes of the diagnostic
or classification scheme rather than disagreement
about the use of growth retardation as a core diagnostic component of the disorder. The 4-Digit
Code (Astley 2004) was designed to be highly
replicable by a variety of clinicians across Washington State, thus conservative thresholds were
set to minimize clinical interpretation and false
positive diagnoses. However,the guidelines of the
National Taskforce on Fetal Alcohol Syndrome/
Fetal Alcohol Effects (Bertrand etal. 2004) were
designed from a public health perspective to
maximize the number of children getting a proper
diagnosis and appropriate treatment services.
The timing of growth retardation has been
debated: whether growth retardation needs to be
present at the time of the diagnosis or whether
it could have occurred previously and been resolved. This is particularly important when including prenatal growth retardation or early
growth problems due to failure to thrive, which
can be ameliorated soon after birth through
supplementation. Because a great number of
treatments exist for growth problems (e.g., feed-
ing tubes or hormone therapy), most diagnostic

schemes adopted an any history of growth retardation criterion, including prenatal growth
retardation (Astley 2004; Bertrand et al. 2004;
Hoyme etal. 2005; Stratton etal. 1996).
Growth retardation and growth deficiencies
occur in children, adolescents, and adults for a lot
many reasons. An obvious diagnosis to exclude
is insufficient nutritiona particular problem for
infants with poor sucking responses that experience failure to thrive. In addition, several genetic
disorders result in specific growth deficiencies
(e.g., bone dysplasias). Prenatal growth retardation can be due to a variety of factors, including maternal smoking or other behaviors leading
to hypoxia, poor maternal nutrition, or genetic
disorders. Both environmental and genetic bases
for growth retardation should be considered for
differential diagnosis when considering the FAS
diagnosis.
12.3.4CNS Abnormalities
More than 2,000 scientific papers regarding the
teratogenic effects of alcohol exposure on the
CNS have been published over the past 30 years
showing the impact of fetal exposure to alcohol
on a range of short- and long-term cognitive and
behavioral outcomes. As noted previously, prenatal exposure to alcohol can result in an array
of structural, functional, neurological problems
of the CNS, or a combination of these factors
(Mattson and Riley 1998; Bertrand etal. 2004).
Within all diagnostic schemes, CNS abnormality must be demonstrated by either, structural,
neurological, or functional deficits/abnormalities
or a combination thereof, although functional
deficits are encountered most often in the clinical setting. While we review all three types of
CNS abnormalities that can be used to meet the
CNS abnormality criteria of an FAS diagnosis,
functional difficulties are the most commonly encountered. Thus, we provided extended discussion on how functional abnormalities in several
domains known to be vulnerable to prenatal alcohol exposure should be assessed and monitored
for indication on an FASD diagnosis.
1. Structural deficits might include documented

small or diminished overall head circumference (OFC at or below the 3rd or 10th percentile) adjusted for age and gender (including
head circumference at birth or disproportionately small head size relative to overall size).
In general, decreased head circumference, at
birth or postnatally, reflects slowed/restricted
brain growth or structural brain abnormalities.
Although less likely to be obtained during a
routine medical evaluation, clinically significant brain abnormalities observable through
imaging techniques (e.g., reduction in size or
change in shape of the corpus callosum, cerebellum, or basal ganglia) as assessed by an
appropriately trained professional also might
meet criteria for structural brain abnormality
for diagnosing FAS (see Norman et al. 2009
for review of structural abnormalities).
2. Neurological deficits also indicate damage to
the CNS resulting from in utero alcohol exposure, including seizures, poor coordination,
visual motor difficulties, nystagmus, or difficulty with motor control (Roebuck etal. 1998;
Church 1996; Marcus 1987). While such deficits may be observed in a variety of medical,
therapeutic, and educational settings, they are
less likely to be formally recognized or diagnosed than functional deficits.
3. Functional deficits/abnormalities are by far
the most frequently used criterion for documenting CNS abnormalities to diagnose FAS.
The functional abilities affected by prenatal
exposure to alcohol vary greatly from person
to person, depending on the amount of alcohol exposure, timing of exposure, and pattern
of exposure (e.g., chronic exposure vs. binge
episodes), as well as maternal, fetal, and environmental influences. Despite the inherent
variation in effects, several areas of significant functional deficits, consistent with the
corresponding structural abnormalities, have
been reported by clinicians and clinical researchers (e.g., corpus callosum, cerebellum,
or basal ganglia (Bertrand etal. 2004; Chasnoff etal. 2010; Kodituwakku 2009; Mattson
and Vaurio 2010). The domains most often
associated with prenatal alcohol exposure and
239
most likely to be identified in clinical settings

are described below. However, this list is not
intended to be exhaustive and other domains
and abilities may be affected depending on
the specific interaction of dose, timing, and
environment encountered by an affected individual. For each domain, we present findings relevant to an FASD diagnosis and more
informational statements that parents, caregivers, or educators may express regarding
a particular child that may indicate that an
FASD diagnosis should be considered (comments from: Bertrand etal. 2004; Fetal Alcohol Spectrum Disorders Center for Excellence
2004; Mitchell 2002; Streissguth 1997).
Because multiple locations in the brain (and
corresponding functional capability) are affected
by prenatal exposure to alcohol, functional deficits that fulfill the CNS abnormality criteria for
FAS can be met in two ways in the major diagnostic schemes: (1) Global cognitive deficit (e.g.,
decreased IQ or DQ) or (2) Deficits in multiple
specific functional domains (e.g., three or more
domains).3
a. Global deficits or delays for individuals
with FASDs have been consistently reported
(Kabel and Coles 2004; Mattson etal. 1997;
Streissguth etal. 1996). It is important to note
that even if a child has global intellectual or
developmental deficits, he or she may still
score in the normal range of development, but
below what would be expected for his or her
environment and background (Adnams et al.
2001; Mattson et al. 1997). Only about one
quarter of the individuals with complete FAS
would be classified as having intellectual disability or impaired for a particular skill. It has
consistently been reported in clinical samples
that only approximately 25% of individuals with a full diagnosis of FAS score two or
more standard deviations below the mean on
standardized measures of IQ or neuropsy3 Decreased performance on a standardized measure of
cognition/intelligence or development assumes deficits in
multiple domains. In the absence of such a global measure, several specific domains should be assessed individually to determine that multiple functional domains have
been affected.
240
chological functioning, with an even smaller

percentage of those with less severe FASDs
(such as pFAS or ARND) function at that
level (Kerns etal. 1997; Mattson etal. 1997;
Streissguth etal. 1996). In addition to formal
testing (either through records or current testing), behaviors that might be observed (or
reported) in the clinical setting that suggest
cognitive deficits or developmental delays
and that should be assessed in a diagnostic or
referral situation include but are not limited
to: specific learning disabilities (especially
math and/or visual-spatial deficits); uneven
profile of cognitive skills; poor academic
achievement; discrepancy between verbal
and nonverbal skills; and slowed movements
or reaction to people and stimuli (e.g., poor
information processing; Bertrand etal. 2004;
Mitchell 2002; Streissguth 1997).
b. Attention problems are often noted for children with FAS, with many receiving a diagnosis of attention-deficit/hyperactivity disorder
(ADHD; Lee etal. 2004; Nanson and Hiscock
1990; OMalley and Nanson 2002). Although
such a diagnosis can be applied, some research has shown that the attention problems
of children with FAS differ from the classic pattern of ADHD. Individuals with FAS
tend to have difficulty with the encoding of
information and flexibility (shifting) aspects
of attention; whereas children with ADHD
typically display problems with focus and
sustaining attention (Coles etal. 1997; Coles
et al. 2002; Kopera-Frye et al. 1997). Furthermore, additional modalities might impact
attentional skills for children with an FASD.
Researchers have found that participants with
FAS performed worse on measures of visual
attention than measures of auditory attention
(Coles etal. 2002; Lee etal. 2004). Individuals with an FASD also can appear to display
hyperactivity because their impulsivity might
lead to increased activity levels. Additional
behaviors that might be observed (or reported) in the clinical setting that suggest attention problems related to FAS should be assessed by standardized testing include, but are
not limited to: described by adult as busy;
inattentive; easily distracted; difficulty calming down; overly active; difficulty completing
tasks; and/or trouble with transitions. Parents
might report inconsistency in attention from
day to day (e.g., on days and off days;
Adnams et al. 2001; Oesterheld and Wilson
1997; Streissguth etal. 1996; Streissguth etal.
1986).
c. Executive functioning (EF) is defined as the
ability to maintain an appropriate problemsolving set for attainment of a future goal,
which includes the more specific skills of inhibition, planning, and mental representation
(Pennington etal. 1996). The interrelation and
overall involvement of attention, memory and
processing skills, and EF is still being discussed theoretically and investigated experimentally. EF is thought to involve handling
of novel information, situations, and problem
solving within these related domains, as well
as override more automatic responses (i.e.,
inhibit) when necessary (Norman and Shallice 2000; Posner and Petersen 1990). Clear
deficits in EF have been shown for individuals with an FASD (Mattson et al. 1999). In
measures of rule shifting (as measured by the
Wisconsin Card Sorting task) and working
memory (as measured by the backward digit
span test), individuals with an FASD have
demonstrated poorer performance compared
to controls who do not have in utero exposure
to alcohol (Kodituwakku 2009). Other aspects
of EF also are impaired for this population
including planning (as measured by tower
tasks) and slower information processing (as
measured by fluency and reaction time tasks).
Behaviors that can be identified through observation or reported by a caretaker) in the
clinical setting that might indicate an EF deficit that should be assessed by standardized
testing include, but are not limited to: poor
organization, planning, or strategy use; concrete thinking; lack of inhibition; difficulty
grasping cause and effect; inability to delay
gratification; difficulty following multistep
directions; difficulty changing strategies or
thinking of things in a different way (i.e., perseveration); poor judgment; and inability to
apply knowledge to new situations (Bertrand

etal. 2004; Mitchell 2002; Streissguth 1997).
d. Motor and visual spatial functioning delays or
deficits have consistently been reported for individuals with FAS, including very young infants and toddlers (Coles and Platzman 1993;
Janzen et al. 1995). Visual-motor/visual-spatial coordination is a particularly vulnerable
area of functioning, which might cascade into
difficulty with math concepts and skills later
in development (Kabel and Coles 2004; Kabel
etal. 2007). Deficits in balance (Roebuck etal.
1998; Roebuck et al. 1999) and coordination
(Steinhausen etal. 1982) have been observed
as well as delayed motor milestones such as
sitting, walking, climbing stairs with alternating feet or peddling (Kyllerman etal. 1985),
and abnormal gait (Marcus 1987). Several researchers have reported reduced scores on the
BerryButenika Test of Visual Motor Integration (VMI) by individuals with an FASD compared to controls (Janzen etal. 1995; Mattson
etal. 1998; Uecker and Nadel 1996). Behaviors that can be seen (or reported) in the clinical setting that indicate motor problems that
should be assessed by standardized testing
include, but are not limited to: delayed motor
milestones; difficulty with writing or drawing; clumsiness; balance problems; tremors;
and poor dexterity. For infants, a poor suck
is often observed (Autti-Ramo and Granstrom
1991; Bertrand etal. 2004; Mitchell 2002).
e. Social skills problems and immaturity arising
from the executive, attention, and developmental problems described previously often
lead to significant difficulty for people with
FASDs when interacting with peers and others. Because of the mental representation
problems, individuals with FASDs often have
social perception or social communication
problems that make it difficult for them to
grasp the subtler aspects of human interactions (Carmichael-Olson et al. 1998; Thomas et al. 1998). Ratings by both parents and
teachers have consistently shown that children
with an FASD have poorer social skills than
control children, including fewer friendships,
immature interaction skills, and lack of social
241
awareness (OConnor et al. 2006; Whaley

et al. 2001). Behaviors that can be observed
(or reported) in the clinical setting that indicate these types of social difficulties that
should be assessed by standardized testing include, but are not limited to: lack of stranger
fear; often scape-goated; naivet and gullibility; easily taken advantage of; inappropriate
choice of friends; preferring younger friends;
immaturity; superficial interactions; adaptive
skills significantly below cognitive potential;
inappropriate sexual behaviors; difficulty understanding the perspective of others; poor
social cognition; and clinically significant
inappropriate initiations or interactions (Bertrand et al. 2004; Carmichael-Olson et al.
2009b; OConnor etal. 2006).
f. Other impairments in addition to these most
often cited problem areas, other deficits and
problems to be assessed by standardized testing include: sensory problems (e.g., tactile
defensiveness and oral sensitivity); pragmatic
language problems (e.g., difficulty reading facial expression; poor ability to understand the
perspectives of others); memory deficits (e.g.,
forgetting well-learned material and needing many trials to remember); and difficulty
responding appropriately to common parenting practices (e.g., not understanding causeand-effect discipline). While abnormalities in
these other areas have been reported for some
individuals with FAS, deficits in these areas
present at a lower frequency than do those in
the specific domains described (Bertrand etal.
2004; Stratton etal. 1996; Streissguth 1997).
12.3.5Comorbidities
Differential diagnosis of CNS abnormities involves not only ruling out other disorders but also
specifying cooccurring disorders. The CNS deficits associated with FAS, in particular functional
deficits, have other etiologies. When evaluating
a child for an FASD, it is important to determine
that the observed functional deficits are not better explained by other causes. In addition to other
organic syndromes that produce deficits in one or
242
more of the previously cited domains (e.g., Williams syndrome), significantly disrupted home
environments or other external factors can produce functional deficits in multiple domains that
overlap with the domains that are affected by
FAS. In making the differential diagnosis of FAS
by ruling out other syndromes, CNS abnormalities should be evaluated in conjunction with dysmorphia and clinical findings. The more difficult
differentiation is for CNS abnormalities resulting
from environmental influences (e.g., abuse or
neglect, disruptive homes, and lack of opportunities). To assist with differential diagnosis between FAS and environmental causes for CNS
abnormalities, it is important to obtain a complete and detailed medical and social history for
the individual and his or her familyincluding
the circumstances of the pregnancy. However, in
utero exposure to alcohol as a possible cause or
contributor to neurocognitive problems should be
considered by all professionals interacting with
children, especially children who might need
more extensive diagnostic evaluations.
In addition to ruling out other causes for CNS
abnormalities, a complete diagnostic evaluation
should identify and specify other disorders that
can coexist with FAS (e.g., autism, conduct disorder, and oppositional defiant disorder). It is
very important to note that a particular individual might have a conduct disorder in addition to
FAS, but not all persons with a conduct disorder
have FAS and not all individuals with FAS will
have a conduct disorder. Thus, organic causes,
environmental contributions, and comorbidity
should all be considered for both inclusive and
exclusive purposes when evaluating someone for
the FAS diagnosis (Kabel and Coles 2004; Streissguth 1997). Difficulty in any of the functional
CNS areas described above can lead to maladaptive behavior and mental health problems with
lifelong consequences. Approximately 8797%
of individuals with an FASD present with a comorbid Axis I psychiatric diagnosis (OConnor
etal. 2002; Fryer etal. 2007; OConnor and Paley
2009). Commonly cooccurring mental health issues (excluding attention problems) reported by
clinicians and cited in the scientific literature
to date, include conduct disorders, oppositional
defiant disorders, anxiety disorders, adjustment

disorders, sleep disorders, and depression (see
OConnor and Paley 2009 for review). Although
attention problems can be classified as a mental
health issue or psychiatric condition, they are
most likely a primary deficit resulting directly
from alcohol-related CNS damage, rather than
a mental health issue arising from other factors
(OConnor and Paley 2009). In addition, while
not diagnosed conditions, decreased adaptive
skills, and increased problems with daily living
abilities have been consistently documented,
although further research is needed. Such problems include dependent living conditions, disrupted school experiences, poor employment record, substance misuse or abuse, and encounters
with law enforcement (including incarceration;
Streissguth etal. 1996; Streissguth etal. 2004).
Although these very debilitating lifelong consequences should not be used for the purpose of
diagnosis, it should be noted that they are very
prevalent among individuals with FAS and are
very likely to be the presenting conditions that
should trigger a referral and comprehensive diagnostic evaluation as well as require treatment
and/or intervention.
12.3.5.1Changes in Presentation of
Diagnostic Features Across
Development
As would be expected for any congenital syndrome, presentation of the diagnostic features
can change over development. With regard to
facial features (small palpebral fissures, smooth
philtrum, and thin vermillion border), it has generally been accepted that these features are most
evident during infancy and the early preschool
years. With aging, these features might become
less distinct from the general population (Clarren et al. 2010), especially for those features
that seem to become more prevalent in the aging
general population due to normal process (e.g.,
smooth philtrums due to loss of collagen). One
also might expect growth parameters to change
(and generally normalize) with development and
interventions (e.g, adequate nutrition). The CNS
criteria show the most change over development.
While structural abnormalities would remain
consistent, neurological and functional deficits

could resolve or change presentation at various
stages of development.
During the newborn and infancy periods, difficulty with arousal or behavior regulation might
be observed. Slightly older infants could display
delayed or abnormal motor skills. During late infancy approaching the preschool period, general
cognitive delay is generally reflected through delayed developmental milestones.
During the preschool period, attention problems and hyperactivity can emerge. In typically
developing children, the late preschool through
early school age (e.g., 4 through 7 years of age)
is when many executive functioning and social
perception skills are acquired. For example, simple planning or organization skills are learned,
as well as understanding the physical and mental
perspective of others. Another example would be
childrens mastery of Piagets 3 mountain task
or learning the referential communications skills
to talk on the telephone effectively. Difficulty in
acquisition of these skills have been reported in
numerous studies of children with FASDs (for
review see Kabel and Coles 2004; Kodituwakku
2009; Chasnoff etal. 2010).
Throughout the school-age period, children
acquire a wide variety of academic, social, and
independence skills. Children at this age with
an FASD can begin to have trouble with math
skills, interacting appropriately with their peers,
and/or planning their time. Each childs pattern
of strengths and weaknesses is likely to be very
individualized. During adolescence and through
adulthood, the pattern of deficits continues to be
present. Lifelong consequences of those deficits
can emerge, including mental health problems,
inability to achieve independent living, and involvement in criminal activity (OConnor and
Paley 2009; Streissguth 1997).
Although features (physical and behavioral)
associated with FASDs do change across the life
span and more information is becoming available
about the nature of these changes, early identification, referral, and intervention remain a primary goal of the referral and diagnostic framework
(Bertrand et al. 2004; Carmichael-Olson et al.
2009b; CDC 2005; Clarren et al. 2010). Unfor-
243
tunately, studies of children with FASDs indicate

that for most children the diagnosis is not recognized until the later school years, missing crucial
years of neuroplasticity (Paley and OConnor
2009; Olson etal. 2007). As for many developmental disorders, better outcomes are associated with earlier diagnosis and implementation
of appropriate treatments (Carmichael-Olson
etal. 2009b; Guralnick 1997; Lipkin and Schertz
2008; Streissguth et al. 1996). A further challenge for clinicians and interventionist regarding FASDs is that some associated behavioral or
mental health difficulties may not present until
after infancy or early school years, missing the
period filled with more frequent well-baby visits and educational screening. Thus, for children
with risk factors or history of prenatal exposure
to alcohol, continuous screen for emerging issues
is essential for identifying these disorders or comorbidities as early as possible to provide intervention or treatment.
12.3.5.2The Need for Multidisciplinary

Approaches
As can be seen in the previous section, disorders
resulting from in utero exposure to alcohol represent a collection of medical and behavioral disorders that could involve a large variety of professions in making the diagnosis, developing an
intervention plan, and providing treatment. The
National Task Force on Fetal Alcohol Syndrome
and Fetal Alcohol Effect proposed a framework
to help guide the identification, referral, diagnosis, and treatment of children with an FASD (Bertrand et al. 2004; CDC 2005). This framework
is illustrated in Fig.12.2. While it is anticipated
that all children who might have a medical or
developmental disorder would be covered under
the general parameters of this framework, professionals across a wide variety of disciplines have
roles essential for children with an FASD to be
identified, diagnosed, and treated. No single profession encounters all these children or meets all
of their needs.
As reflected in Fig. 12.2, initial recognition
that a child or older individual has a potential
problem can come from many sources. Often,
parents notice differences between a child and
244
Caregiver-iniated
Provider Contact
Child presents for
office visit.
Triggers emerge
from contact:
developmental
problems,
facial abnormalies
associated with FAS,
growth delay,
or maternal
alcohol use
Complete
inial evaluaon
to gather specific data
related to the four FAS
criteria: facial
malformaons,
growth abnormalies,
neurodevelopmental
concerns, and
maternal alcohol use.
Refer to
Specialist
for further
assessment
Yes
Diagnosis
Services
FAS Diagnosis
confirmed using
dysmorphic and
anthropometric
assessment procedures
along with appropriate
neurodevelopmental
evaluaon data.
The Intervenon plan

is communicated to
frontline providers,
caregivers, and child
with ongoing
exchange with the
intervenon team.
FAS Referral
Criteria met?
No
Connue to
monitor
changes in
childs health
over me
An Intervenon plan
is developed using
a muldisciplinary
team approach.
A case management
plan is iniated at
the community level
based on
recommendaons
from the intervenon
team (i.e., specialty
services, community
and educaonal
resources.)
Fig. 12.2 Framework for Fetal Alcohol Syndrome (FAS) diagnosis and services
his or her siblings or playmates. School systems,

including Head Start and daycare staff, interact with a large number of children and often
recognize delays in motor, social, or cognitive
skills. Social service professionals, such as WIC
clinic staff, social workers, and foster care agencies frequently recognize children and individuals having difficulty with learning, behavior, or
navigating rules and thus needing evaluation.
Health care providers (particularly pediatricians)
often are the first to screen for and detect developmental problems. Obstetricians, who might be
aware of a maternal substance abuse problem,
might refer a newborn. Recognition of many of
the problems associated with FASDs is exactly
the type of condition the well-child visits to
the doctors office are meant to identify. It is assumed that triggers, such as facial abnormalities,
growth retardation, developmental problems, or
maternal alcohol use, will emerge from the contact. Other professionals should also identify
problems through entry evaluations into services,
school programs, and other developmental or
recreational activities. Recognition of a potential
problem should lead the provider, regardless of
specific profession, to facilitate getting the person and his or her family to the appropriate next
steps for evaluation and diagnosis.
The referral process starts at the point a clinician suspects an alcohol-related disorder for
a child. This process is facilitated by a working
knowledge of the physical and neurodevelopmental domains affected in individuals with FAS, as
well as characteristics that may indicate the need
for a referral. In making a referral for a complete
diagnostic evaluation for FAS, it is helpful for the
referring provider to gather and document specific data related to the FAS diagnostic criteria.
These data will assist the provider in making the
decision to more extensively evaluate the child
for diagnosis or to refer the child to a multidisciplinary evaluation team for a confirmed diagnosis. In addition, these data could be forwarded
to the multidisciplinary evaluation team to guide
the diagnostic process if a childs own pediatrician or primary care provider does not complete
the diagnostic evaluation himself or herself. A
complete review of systems, noting features consistent with FAS, would be most helpful.
During a diagnostic evaluation, a multidisciplinary team would engage in a more thorough
assessment of the child using FAS diagnostic
procedures to evaluate dysmorphia and growth
parameters, as well as obtain appropriate neurodevelopmental evaluation data. Once a diagnosis
is made, an intervention plan would be devel-
oped using a multidisciplinary team approach.

A variety of specialists could contribute to the
multidisciplinary team, including dysmorphologists, developmental pediatricians, psychiatrists,
psychologists, social workers, and educational
specialists. Primary care providers, such as
pediatricians and family practitioners, would be
involved for not only routine medical care and
keeping a medical home, but might see the child
more often for things like otitis media or seasonal
colds/influenza since prenatal alcohol exposure
might negatively affect immune functioning (Jerrells and Weinberg 1998). Specialists also might
be involved. For example, an ophthalmologist to
address strabismus or a neurologist to treat and
monitor seizure disorders, which are more prevalent in this population (Bell etal. 2010). Education and social service professionals might be
involved in several aspects of the childs treatment and family life or development. We discuss
the role of these professionals in more depth in a
subsequent section.
The wide range of disciplines involved with
the care and treatment of children with FASDs
highlights the importance of providing education
regarding this disorder. However, identification,
referral, and care for individuals with an FASD is
not within the routine scope of practice for many
disciplines (FASD Regional Training Centers
Consortium 2007). US Congressional language
in 2002 directed CDC, acting through the National Center on Birth Defects and Developmental Disabilitys Fetal Alcohol Syndrome Prevention Team and in coordination with the National
Alcohol Effect, to: (a) develop guidelines for diagnosing FAS and other negative birth outcomes
resulting from prenatal exposure to alcohol, (b)
incorporate these guidelines into curricula for
medical and allied health students and practitioners and seek to have these curricula fully recognized by professional organizations and accrediting boards, and (c) disseminate curricula to
and provide training for medical and allied health
students and practitioners regarding these guidelines. As part of this initiative, in 2002, CDC
funded four FASD Regional Training Centers
to develop, implement, and evaluate educational
245
curricula for medical and allied health students

and practitioners. As of this publication, 5 centers are currently funded: Artic Region (includes
Alaska); Frontier Region (includes Nevada, Utah,
Colorado, Wyoming, Idaho, Montana, and North
Dakota); Midwest Region (includes Missouri,
Arkansas, Illinois, Iowa, Nebraska, Kansas, and
Oklahoma); Great Lakes Region (includes Wisconsin, Michigan, Indiana, Ohio, Minnesota, and
North Carolina); and Southeast Region (includes
Tennessee, Georgia, Kentucky, South Carolina,
Florida, Alabama, Mississippi, and Louisiana).
Additional information on each center, including
contact information, can be found at www.cdc.
gov/ncbddd/fasd/training. An essential aspect of
the centers mandate is that they not only conduct ongoing professional education, but also
work to secure FASD-related content on licensing and accreditation examinations. To this end, a
comprehensive medical and allied health curriculum development guide was created with seven
health education competencies (FASD Regional
Training Centers Curriculum Development Team
2009):
1. Demonstrate knowledge of the historical
background of fetal alcohol syndrome (FAS)
and other disorders related to prenatal alcohol
exposure, known collectively as fetal alcohol
spectrum disorders (FASDs).
2. Provide services aimed at preventing alcoholexposed pregnancies in women of childbearing age through screening and brief interventions for alcohol use.
3. Apply concepts and models of addiction to
women of childbearing age, including those
who are pregnant, to provide appropriate prevention services, referral, and case management.
4. Describe the effects of alcohol on the developing embryo and fetus.
5. Screen, diagnose, and assess infants, children,
adolescents, and adults for FAS and other prenatal alcohol-related disorders.
6. Provide long-term case management for persons with FASDs.
7. Recognize ethical, legal, and policy issues related to FASDs.
246
In addition, educational trainings conducted

by each of the Regional Training Centers focus
not only on increasing basic knowledge about
FASDs, but also initiating and/or improving
practical clinical skills, such as interviewing/
screening women for alcohol use and talking to
parents about behaviors that might be relevant
for an FASD diagnosis (FASD Regional Training
Centers Curriculum Development Team 2009).
An important aspect of the trainings provided by
the FASD Regional Training Centers is that they
seek to include not only medical professionals,
but are inclusive of a wide range of allied health
professionals, including early interventionists,
speech-language pathologists, occupational/
physical therapists, nurses/nurse practitioners,
social service agencies, public health workers,
social workers, and correctional health professionals.
Although increased training specific to FASDs
and corresponding increased awareness across
disciplines will certainly improve the flow across
the presented diagnostic framework, other efforts
also could improve the networking and integration across disciplines. The National Taskforce
on Fetal Alcohol Syndrome/Fetal Alcohol Effects
has outlined several steps that could improve
communication, cooperation, and efficiency of
care for children with FASDs, including: modification of provider reimbursement codes and
procedures to be consistent across disciplines and
ensure appropriate services are covered, making
service eligibility requirements reflect the nature
of the disorder, include FASD information in
continuing education efforts for all disciplines,
promote routine screening for family alcohol
abuse in all critical systems of care, and increase
awareness of FASDs at the national level (Carmichael-Olson etal. 2009a).
12.4Treatment and Intervention

Diagnosis is never an endpoint for any individual
with a developmental disability and his or her
family. This is particularly true for individuals
with a condition along the FASD continuum,
their families, and their community. As described
in the framework section, an FASD diagnosis and

the diagnostic process (especially the neuropsychological assessment) are part of a continuum
of care that identifies and facilitates appropriate
health care, education, and community services.
The learning and life skills affected by prenatal
alcohol exposure vary greatly among individuals,
depending on the amount of alcohol exposure,
and the timing and pattern of exposure, as well
as each individuals current and past environment
(Carmichael-Olson 2002; Abel 1998; Warren and
Hewitt 2009). As a result, the services needed
for individuals with FAS and their families vary
according to what parts of the brain have been
affected, the age or level of maturation of the person, the health or functioning of the family, and
the overall environment in which the person is
living. Thus, service needs will vary greatly and
must be tailored to each individual and his or her
family (Davis 1994).
Despite the individualized service requirements, some general areas of service and specific services have been identified as helpful to
people with FAS and their families (Streissguth
1997). While the ideal circumstance are services
and interventions that have been specifically
developed for individuals with FAS and their
effectiveness established through rigorous scientific evaluation, such programs are only now
being researched and developed. Thus, most
evidence for the benefit of services has been
gleaned from research with other populations
of children with developmental disabilities or
chronic conditions, clinical wisdom, and family experiences. These three sources have drawn
heavily from information obtained concerning
risk and protective factors that have been found
through systematic research, using qualitative
methodologies, to promote positive development or reduce the incidence of negative longterm consequences of FAS (i.e., reduce secondary conditions; Streissguth and Kanter 1997;
Streissguth etal. 2004). FASDs have often been
described as hidden or invisible disabilities
because of the good basic language skills (e.g.,
vocabulary and syntax) and subtlety (or lack)
of the dysmorphia of many affected individuals. These factors lead to individuals with FAS
being treated inappropriately because of unrealistic developmental expectations of caregivers, educators, or social service providers. FAS
might be either not recognized or mislabeled as
stubbornness or misbehavior by a caregiver, or
others who encounter the individual (e.g., teachers, extended family, and friends).
12.4.1Medications
At present, there are no medications specifically
approved for the treatment of FASDs. However,
several classes of medications are routinely prescribed to address common symptoms, negative
behaviors, or other concerns for individuals with
an FASD. Because children often see many professionals before receiving an FASD diagnosis,
they might present with multiple medications
prescribed by multiple providers (with or without communication among providers). As a first
step, it is important to evaluate the appropriateness, impact, and potential interactions of these
medications. Second, monitoring medication
use is essential since individuals with FASDs
often encounter multiple caregivers, chaotic
living situations, developmentally changing
behavior patterns, and negative side effects of
medications (Wozniak et al. 1997). Attention
problems are the most common behavior disorder treated by medication in children (Doig
etal. 2008). Research has demonstrated mixed
results for use of stimulant medications for attention problems of individuals with an FASD.
Doig et al. (2008) found slight improvement
for symptoms of hyperactivity and opposition/
defiance, but no improvement for inattention.
Furthermore, researchers have found no difference in performance or improvement for children with an FASD on stimulant medications
compared to children with an FASD who were
not taking stimulant medication (Frankel et al.
2006; Snyder etal. 1997).
Depressive symptoms in children, including
children with developmental disabilities such as
FASDs, have been reported to be similar to those
of adults with sad mood or affect, loss of interest,
and sleep problems. In addition, for children, de-
247
pression often includes school disruption, negativity, irritability, aggression, and antisocial behaviors (Bostic etal. 1997). Selective serotonin
reuptake inhibitors (SSRIs) are often prescribed
to children with an FASD (Meyer and Quenzer
2005). However, specific research on the efficacy of SSRIs for depressive symptoms in children
or adults with an FASD is not available. Such
research would provide important clinical information for this population.
Psychotic symptoms are not associated with
FASDs. However, neuroleptics are prescribed to
children with developmental disabilities, including FASDs, to address aggression, anxiety, or
behavior regulation (Feldman etal. 1997). However, anxiety disorders among children are more
common than previously thought with many
psychiatric conditions actually having their
basis in anxiety (e.g., conduct disorder; Costello
et al. 1996). Infants with prenatal alcohol exposure are more likely to exhibit attachment
anxiety than children without prenatal alcohol
exposure (OConnor etal. 2002). Furthermore,
approximately one-fifth of school-aged children
and adults with prenatal alcohol exposure meet
diagnostic criteria for an anxiety disorder (Fryer
et al. 2007; Famy et al. 1998). Thus, medications to address symptoms of anxiety may be
prescribed to children or adults with an FASD.
However, as with most psychiatric medications,
data on the efficacy and effectiveness of these
drugs for the population of individuals with
FASDs are not available. Well-designed and
conducted studies on specific medications are
needed.
Finally, many children, adolescents, and adults
with developmental disabilities, including those
with an FASD, are prescribed multiple medications, anecdotally referred to as cocktails. Such
multiple prescriptions can result from patients
failure to disclose current medications, lack of
communication across providers, or failing to
discontinue medications that are not effective or
no longer appropriate. The patient, parent, education, and medical communities are becoming increasingly concerned about multiple medications
and their possible negative effects. Furthermore,
research into drug therapies do not assess the use
248
of multiple drugs simultaneously, thus their interactional effects have not been studied. When
new medications are considered, it is important
to fully review the need and effectiveness of current medications and possible drug interactions
before adding to the cocktail (Feldman et al.
1997).
12.4.2Behavioral Treatments
Until recently, behavioral treatments and interventions for individuals with FASDs have not
been evaluated systematically or scientifically.
In general, helpful interventions should be developed working with educational staff or therapists, and working with social services (e.g., foster care) to determine individualized treatment
plans. Stable home environments have been
shown to be important (Carmichael-Olson etal.
2009b).
In addition to educational services, several
specific interventions adapted for children with
an FASD have been studied and shown effective.
Project Bruin Buddies assessed a social skills
training program to improve peer friendships for
children with an FASD. Researchers found that
after controlling for covariates, children with an
FASD in a 12-week children friendship training
group showed statistically significant improvement in their knowledge of appropriate social
behavior as compared to control children who
also were diagnosed with an FASD but had not
yet received the social skills training (OConnor
etal. 2006). The Georgia Math Interactive Learning Experience (MILE) Program demonstrated
effectiveness of adaptive materials and tutoring
methods to improve math knowledge and skills in
children with FASDs, compared to control children with an FASD (Kabel etal. 2007). Although
not a commonly cited area of deficit among individuals with an FASD, Adnams et al. (2007)
demonstrated improved literacy and language
skills in a South African population with FASDs.
Using a computer-based format, effective programs for teaching children with an FASD safety
skills such as street crossing and fire safety have
been developed (Coles etal. 2007).
Executive functioning is a particularly important area in need of intervention for individuals

with an FASD since these skills cut across many
other domains of functioning and have a very direct impact on daily living. Using the ALERT program (Williams and Shellenberger 1996; Bertrand
and Interventions for Children with Fetal Alcohol
Spectrum Disorders Research Consortium 2009),
researchers in Chicago have demonstrated improvement in behavior regulation and executive
function in children with an FASD, compared to
control children with an FASD who did not receive the intervention based on the ALERT program. In another intervention to improve aspects
of executive functioning, Loomes et al. (2008)
taught rehearsal strategies and other memory
techniques to children with an FASD to improve
working memory skills. Finally, in Seattle, the researchers have used an intensive 9-month individualized parent therapy program to improve parent
effectiveness and reducing clinically significant
behavior problems in school-age children with an
FASD (Carmichael-Olson etal. 2009a). A major
implication of these research studies for families
dealing with FASDs is that they now have available tested interventions that can address their
childrens needs and that can be presented as
scientifically validated and efficacious to service
systems, such as schools, social services, or mental health providers.
Development and validation of a large number of interventions and treatment approaches
is essential in providing services to individuals
with an FASD because they might have a wide
range of problems or deficits depending on the
specificity of their own neurocognitive profile.
There are two basic ingredients that seem important across successful interventions for individuals who have an FASD. First, parent education
or training seems to provide a necessary backdrop to intervention delivery and accommodations needed to ensure success of learned skills.
Such education typically provides parents with
increased knowledge about FASDs and how the
associated brain damage alters their childs way
of learning or interacting with the world. Parent
education also provides parents with training on
how to advocate for their child in medical and
educational systems, allowing skills learned during specific interventions to be incorporated into
to the childs daily life. A second important component is explicit intervention with the children.
Children with an FASD demonstrate a good capacity to learn new skills, however, because of
underlying neurological impairment, must do so
through explicit instruction rather than through
observation and a process of abstracting rules,
skills, and knowledge from ongoing situations as
do children who are developing typically.
12.4.3Family Issues
Families with a child, adolescent, or adult with
an FASD face tremendous and unique challenges. By definition, the substance use, misuse, or
abuse are part of the current or previous family
dynamic. Research and clinical wisdom have
consistently reported that children with an FASD
are more likely to be involved with child protective services, foster care, or being raised in adoptive homes (Streissguth et al. 1996; Bertrand
etal. 2004; Carmichael-Olson etal. 2009b). One
study estimated that the prevalence of children
with FAS (or a related disorder) in the foster care
system is 10 times that of the general population
(Astley etal. 2002). Adoptive families, especially families who adopt internationally, may have
additional issues to contend with. In addition to
cross-cultural issues, children from such adoptions may be at increased risk for several medical
conditions, especially an FASD if the child comes
from a region with high alcohol consumptions
such as Eastern Europe or South Africa (Hostetter etal. 1989; Robert etal. 2009; University of
Minnesota 2010).
The CNS damage from in utero exposure to
alcohol combined with adverse life events associated with increased risk of negative life consequences may lead to an additive or even compounded situation with outcomes worse for these
individuals than would be predicated from their
FASD disability alone (Coggins etal. 2007). Programs and interventions addressing the needs of a
child with an FASD within the context of family
situations are greatly needed (Henry etal. 2007).
249
Likewise, when caring for an individual with an

FASD, medical and allied health professionals
should assess and address the physical, mental,
and social health of the whole family (Mitchell
etal. 2009).
One particular area of family functioning that
has been identified and is receiving more research attention is parental stress. Increased parental stress for families with a child who has an
FASD has been reported in several research studies. The elevated levels of stress are even greater
for these caregivers than would be predicted from
just having a child with a disability (such as idiopathic intellectual disability), limited family
resources (such as poverty), or other family characteristics (such as substance abuse; CarmichaelOlson etal. 2009b; Paley etal. 2005; Paley etal.
2006). Most concerning is that higher levels of
parental stress are associated with poorer child
outcomes such as behavior problems (Paley etal.
2005), decreased adaptive functioning, and impaired executive functioning (Paley etal. 2006).
An emerging area of interest is the role of
siblings. First, siblings of an individual with an
FASD are at very high risk of having an FASD
themselves, either because they have the same
biological mother who drank during pregnancy
or are adopted from high-risk settings (Kvigne
et al. 2003; Kvigne et al. 2009). Thus, it is important to assess all family members during the
identification, evaluation, and diagnostic processes. Even unaffected siblings of individuals
with an FASD encounter special challenges. Like
all siblings of a person with a disability, during
childhood and adolescence they might struggle
with understanding why their sibling thinks and
acts differently or has trouble learning things
that come easily to most peers. This can bring
an added dynamic to the typical sibling rivalry
or maturity issues all families face (Streissguth
1997; see Winokur 2009 for personal account).
The impact of having a sibling with an FASD is
an area, which needs a great deal of scientific research, both how the sibling is affected and how
the sibling can mitigate negative consequences
for the individual with an FASD.
Several protective factors have been identified
that may reduce long-term negative outcomes
250
in children with FASDs (protective factors), including a stable and nurturing home environment
during the school years, early diagnosis (before
6 years of age), absence of exposure to violence,
few changes in caretaking placements, and eligibility for social and educational services (Streissguth etal. 1996; Carmichael-Olson etal. 2009b).
Although specific research is not available, children and families with a medical home also
would be expected to have improved outcomes
because of early identification, early intervention as problems arise, and increased preventative
care. Interventions and services that maximize
these protective factors while reducing risk factors will provide the best benefit to anyone with
FASDs and improve their chances of achieving
their developmental potential (Streissguth et al.
1996; Carmichael-Olson 2002). Access to programs and interventions that can promote these
protective factors has been difficult for families
who have a member living with an FASD. This
challenge in accessing appropriate services was
echoed directly during a series of town hall meetings conducted by the SAMHSA in 20022003.
With over 500 participants testifying, the two primary needs identified were: (1) respite care and
(2) greater understanding of FASDs and support
for families by various systems of care such as education, mental health, substance abuse treatment,
criminal justice and legal systems, vocational
programs, health care, and income programs such
as medical assistance and Social Security (FASD
Center for Excellence 2004; Ryan etal. 2006).
12.5Magnitude of FASDs and

Prenatal Exposure to Alcohol
In the preceding sections, we have described the
teratogenic effects of in utero alcohol exposure,
presented major diagnostic features, and commented on appropriate treatment and intervention
needs. However, many people working with children with special needs or children at risk might
not realize the magnitude and impact of children
with an FASD within their discipline. Because
these disorders are grossly underdiagnosed (May
etal. 2009), there are mistaken assumptions that
this is a rare disorder and that education, early
intervention, and service providers are unlikely

to encounter children with an FASD. Systematic
surveillance and epidemiological studies indicate
that this is not the case, and FAS, and certainly
the full FASD continuum, more than likely occur
at rates at or higher than other more commonly
recognized disorders.
12.5.1Prevalence
Studies by CDC have reported prevalence rates
from 0.2 to 1.5 cases meeting the case definition
for full FAS per 1,000 live births across various
populations (CDC 1997, 2002). Other studies reflecting a variety of ascertainment methodologies
have produced estimates ranging from 0.5 to 2.0
cases per 1,000 live births (Cordero etal. 1994;
May and Gossage 2001). A few very recent studies, which used active screening of grade school
children, have produced prevalence estimates
as high as 211 cases per 1,000 children in the
United States and other western countries (May
et al. 2009). Such rates are comparable with or
above other common developmental disabilities
such as Down syndrome or spina bifida (Mirkes
2003; Shin etal. 2010). Using the CDC FAS estimates, among the approximately four million
infants born each year, an estimated 8006,000
will be born with FAS annually.
Studies of particularly vulnerable populations yield prevalence estimates that far exceed
those of other common disabilities. Disadvantaged groups, American Indians, and other minorities have rates as high as 3 to 10 cases of
FAS per 1,000 children (Egeland et al. 1998;
May et al. 1983; May et al. 2009). Available
data also suggest that poverty is strongly associated with womens alcohol use before and during pregnancy, leading to an excess of children
with FAS among impoverished groups (Abel and
Hannigan 1995; Abel 1995; May etal. 1983). Finally, particularly high prevalence of children
with FAS also has been found among children
in the foster care system (Astley etal. 2002). It
should be noted that these prevalence estimates
focus on children meeting all diagnostic criteria
for the full fetal alcohol syndrome. Prevalence
estimates for the entire spectrum range from 3
to 10 times those of the full syndrome (Stratton

etal. 1996).
12.5.2Exposure Monitoring
The magnitude of the problem is even greater
when the risk of FAS and other FASDs is considered by looking at the rate of alcohol-exposed
pregnancies. In the United States, 12% of pregnant women report consuming any alcohol and
between 2 and 4% report binge drinking in the
past 30 days (Denny etal. 2009). Risk of an alcohol-exposed pregnancy is an important topic,
even for women who currently are not pregnant,
since approximately half of all pregnancies are
unplanned (Finer and Henshaw 2006). More than
half of all women of childbearing age (1844
years of age) report some alcohol use and one in
eight reports binge drinking in the past 30 days
(Denny et al. 2009). Many of these women are
sexually active and are often not taking effective measures to prevent pregnancy. Thus, these
women are at high risk for an alcohol-exposed
pregnancy as they might continue drinking early
in pregnancy at levels that are harmful to the
fetus before knowing they are pregnant (Floyd
etal. 1999).
Current prevalence estimates of FAS (and
FASDs) as well as alcohol consumption among
women of childbearing age (including pregnant
women) indicate that the magnitude of the problem is of significant public health concern. Even
with these estimates, the full scope of FASDs
may be underappreciated, since estimates may
fall far short of the true prevalence due to several challenges that exist for establishing accurate and timely prevalence information. Conducting routine surveillance to establish prevalence rates is very labor intensive (regardless
of method) thus making them expensive, time
consuming, and only feasible to conduct on a
periodic basis. Other challenges include lack of
documentation of features or prenatal alcohol
exposure in records, lack of access to mother or
reliable exposure information, changes across
development, misconceptions among professionals that FASDs occur only among children
of alcoholics, etc. (Bertrand et al. 2004; May
251
et al. 2009). The full magnitude of the entire

spectrum of FASDs is still to be determined. As
a result, primary care providers, early intervention staff, educators, and others who care for
children represent important partners to both
the diagnostic process and providing information to facilitate monitoring prevalence of these
disorders as well as the maternal risk behaviors
associated with them. Accurate estimates for
prevalence of FASDs and maternal risk behaviors are essential in providing access to appropriate treatment and services, for child, mother,
and their families.
12.6Summary and Potential Policy

Considerations
In this chapter, we have reviewed several aspects
of FASDs, including the structural and functional
neurological abnormalities associated with alcohol as a teratogen, diagnostic criteria to recognize
the wide spectrum of FASD disorders, as well as
reviewed current research regarding effective
interventions for those living with an FASD and
their families. After a similar review of the literature-to-date in 2008, the National Task Force on
Fetal Alcohol Syndrome and Fetal Alcohol Effect issued a culmination Call to Action report,
which highlights recommendations to improve
and expand efforts regarding early identification,
diagnostic services, and quality research on interventions for individuals with an FASD and their
families (Carmichael-Olson et al. 2009a). Several of their recommendations are still relevant.
Further delineation of the harmful effects of in
utero exposure to alcohol continues to be needed.
Such research would include basic research on
the adverse effects on brain structure and functioning, cognitive and behavioral implications,
and epidemiological research identifying those at
highest risk of having an FASD. Such basic research would naturally cascade into better clinical
knowledge about children, youth, and adults with
an FASD, facilitating early identification, diagnosis, and referral to treatment, an important step
that needs more concerted research and policy attention (Ismail etal. 2010). Another high-priority
research area is studies to better understand the
252
relative characteristics (cognitive, developmental, and social) of all individuals with an FASD,
commonly referred to as the behavioral phenotype. More specific and comprehensive understanding of this neurodevelopmental phenotype
would provide the foundation for development or
adaptation of additional treatments and interventions that specifically address the unique needs
and challenges facing those living with an FASD.
In addition to research, changes in public policies, systems, and attitudes are needed. To promote a comprehensive and accessible continuum
of care for all individuals with an FASD, eligibility requirements to educational opportunities and
social services must be modified to reflect that
individuals with an FASD might not meet current
cutoff requirements on standardized tests, yet still
require supports and specialized interventions
(Carmichael-Olson etal. 2009a). Public policies
also should reflect the individualized nature of
disability observed for persons with FASDs as
well as the wide range of presentations. Development and refinement of private and professional
policies would benefit from concerted efforts to
provide or promote education about FASDs. Finally, steps are needed to address the family-wide
impact of FASDs. By strengthening families and
caregivers through education, advocacy, and programs there will be not only benefit to individuals living with an FASD, but also families and
communities at large.
Over 40 years ago, medical researchers first described the adverse impact of in utero exposure to
alcohol known today as fetal alcohol spectrum disorders. In that time, much has been learned about
the disorders, medical advances in diagnosis have
been made, and early research into treatment and
interventions specifically tailored to this group
have been initiated. It is also evident that much
more remains to be learned and programs initiated
and strengthened to better promote the prevention,
identification, and treatment of FASDs.
References
Abel, E. L. (1995). An update on incidence of FAS: FAS
is not an equal opportunity birth defect. Neurotoxicol
Teratol, 17, 437443.

Abel, E. L., & Hannigan, J. H. (1995). Maternal risk factor in fetal alcohol syndrome: Provocative and permissive influences. Neurotoxicology and Teratology, 17,
445462.
Abel, E. L. (Ed.) (1996). Fetal alcohol syndrome: From
mechanism to prevention. Boca Raton: CRC Press.
Abel, E. L. (1998). Fetal alcohol abuse syndrome. New
York: Plenum Press.
Adnams, C. M., Kodituwakku, P. W., Hay, A., Molteno,
C. D., Viljoen, D., & May, P. A. (2001). Patterns of
cognitive-motor development in children with fetal
alcohol syndrome from a community in South Africa.
Alcoholism, Clinical and Experimental Research, 25,
557562.
Adnams, C. M., Sorour, P., Kalberg, W. O., Kodituwakku,
P., Perold, M. D., Kotze, A., September, S., Castle, B.,
Gossage, J., & May, P. A. (2007). Language and literacy outcomes from a pilot intervention study for children with fetal alcohol spectrum disorders in South
Africa. Alcohol, 41, 403414.
Archibald, S. L., Fennema-Notestine, C., Gamst, A.,
Riley, E. P., Mattson, S. N., & Jernigan, T. L. (2001).
Brain dysmorphology in individuals with severe prenatal alcohol exposure. Developmental Medicine and
Child Neurology, 43, 148154.
Aase, J. M. (1990). Diagnostic dysmorphology. New
York: Plenum Medical Book Co.
Astley, S. J. (2004). Diagnostic guide for fetal alcohol
spectrum disorders: The 4-digit diagnostic code (3rd
ed.). Seattle: University of Washington.
Astley, S. J., & Clarren, S. K. (1996). A case definition
and photographic screening tool for the facial phenotype of fetal alcohol syndrome. The Journal of pediatrics, 129, 3341.
Astley, S. J., & Clarren, S. K. (2001). Measuring the facial
phenotype of individuals with prenatal alcohol exposure: Correlations with brain dysfunction. Alcohol
Alcoholism, 36, 147159.
Astley, S. J., Stachowiak, J., Clarren, S. K., & Clausen,
C. (2002). Application of the fetal alcohol syndrome
facial photographic screening tool in a foster care
population. The Journal of pediatrics, 141, 712717.
Autti-Ramo, I., & Granstrom, M. I. (1991). The effect of
intrauterine alcohol exposition in various durations
on early cognitive development. Neuropediatrics, 22,
203210.
Autti-Ramo, I., Autti, T., Korkman, M., Kettunen, S.,
Salonen, O., & Valanne, L. (2002). MRI findings in
children with school problems who had been exposed
prenatally to alcohol. Developmental medicine and
child neurology, 44, 98106.
Bell, S. H., Stade, B., Reynolds, J. N., Rasmussen, C.,
Andrew, G., Hwang, P. A., & Carlen, P. L. (2010).
The remarkably high prevalence of epilepsy and seizure history in fetal alcohol spectrum disorders. Alcoholism, clinical and experimental research, 34(6),
10841089.
Bertrand, J., Floyd, R. L., Weber, M. K., OConnor, M.,
Riley, E. P., Johnson, K. A., Cohen, D. E., & National
Task Force on FAS/FAE. (2004). Fetal alcohol syn-
drome: Guidelines for referral and diagnosis. Atlanta:
Centers for Disease Control and Prevention.
Bertrand, J, & Interventions for Children with Fetal Alcohol Spectrum Disorders Research Consortium. (2009).
Interventions for children with fetal alcohol spectrum
disorders (FASDs): Overview of findings for five
innovative research projects. Research in Developmental Disabilities, 30, 9861006.
Bhatara, V. S., Lovrein, F., Kirkeby, J., Swayze 2nd, V.,
Unruh, E., Johnson, V. (2002). Brain function in fetal
alcohol syndrome assessed by single photon emission
computed tomography. South Dakota Journal of Medicine, 55, 5962.
Bostic, J. Q., Wilens, T., Spencer, T., & Biederman, J.
(1997). Juvenile mood disorders and office psychopharmacology. Pediatric clinics of North America, 44,
14871503.
Carmichael-Olson, H. (2002). Helping individuals with
fetal alcohol syndrome and related conditions: A clinicians overview. In R. J. McMahon, & R. D. Peters,
(Eds.), The effects of parental dysfunction on children.
New York: Kluwer Academic/Plenum Publishers.
Carmichael-Olson, H., Feldman, J. J., Streissguth, A. P.,
Sampson, P. D., & Bookstein, F. L. (1998). Neuropsychological deficits in adolescents with fetal alcohol
syndrome: Clinical findings. Alcoholism, Clinical and
Experimental Research, 22, 19982012.
Carmichael-Olson, H. C., Ohlemiller, M. M., OConnor,
M. J., Brown, C. W., Morris, C. A., Damus, K., &
National Task Force on Fetal Alcohol Syndrome and
Fetal Alcohol Effect. (2009a). A call to action: Advancing essential services and research on fetal alcohol
spectrum disordersA report of the national task force
on fetal alcohol syndrome and fetal alcohol effect.
Atlanta: Centers for Disease Control and Prevention.
Carmichael-Olson, H. C., Oti, R., Gelo, J., & Beck, S.
(2009b). Family Matters: Fetal alcohol spectrum
disorders and the family. Developmental Disabilities
Research Reviews, 15, 235249.
CDC. (1997). Surveillance for fetal alcohol syndrome
using multiple sourcesAtlanta, Georgia, 1981
1989. Morbidity and Mortality Weekly Report, 46,
11181120.
CDC. (2002). Fetal alcohol syndromeAlaska, Arizona,
Colorado, and New York, 19951997. Morbidity and
Mortality Weekly Report, 51, 433435.
CDC. (2005). Guidelines for identifying and referring
persons with fetal alcohol syndrome. Morbidity and
Mortality Weekly Report, 54(RR-11), 115.
Chang, G. (2002). Brief interventions for problem drinking and women. Journal of Substance Abuse Treatment, 23, 17.
Chasnoff, I. J., Wells, A. M., Telford, E., Schmidt, C.,
& Messer, G. (2010). Neurodevelopmental functioning in children with FAS, pFAS, and ARND. Journal of Developmental and Behavioral Pediatrics, 31,
192201.
Church, M. W. (1996). The effects of prenatal alcohol
exposure on hearing and vestibular function. In E. L.
253
Abel (Ed.), Fetal alcohol syndrome: From mechanism

to prevention (pp.85111). Boca Raton: CRC Press.
Clark, C. M., Li, D., Conry, J., Loock, C. (2000). Structural and functional brain integrity of fetal alcohol
syndrome in nonretarded cases. Pediatrics, 105,
10961099.
Clarren, S. K. (1986). Neuropathology in fetal alcohol
syndrome. In J. R. West (Ed.), Alcohol and brain
development (pp.158166). New York: Oxford University Press.
Clarren, S. K., Chudley, A. E., Wong, L., Friesen, J., &
Brant, R. (2010). Normal distribution of palpebral
fissure lengths in Canadian school age children.
The Canadian Journal of Clinical Pharmacology, 17,
e67e78.
Coggins, T. E., Timler, G. R., Olsang, L. B. (2007). A
state of double jeopardy: Impact of prenatal alcohol
exposure and adverse environments on the social communicative abilities of school-age children with fetal
alcohol spectrum disorder. Language, Speech, and
Coles, C. (1994). Critical periods for prenatal alcohol
exposure. Alcohol Health Research World, 18, 2229.
Coles, C. D., Platzman, K. A. (1993). Behavioral development in children prenatally exposed to drugs and
alcohol. International Journal of the Addictions, 28,
13931433.
Coles, C. D., Brown, R. T., Smith, I. E., Platzman, K. A.,
Erickson, S., & Falek, A. (1991). Effects of prenatal
alcohol exposure at school age I: Physical and cognitive development. Neurotoxicology and Teratology,
13, 357367.
Coles, C. D., Platzman, K. A., Raskind-Hood, C. L.,
Brown, R. T., Falek, A., & Smith, I. E. (1997). A
comparison of children affected by prenatal alcohol
exposure and attention deficit-hyperactivity disorder.
150161.
Coles, C. D., Platzman, K. A., Lynch, M. A., & Freides D.
(2002). Auditory and visual sustained attention in adolescents prenatally exposed to alcohol. Alcoholism,
Clinical and Experimental Research, 26, 263271.
Coles, C. D., Strickland, D. C., Padgett, L., Bellmoff, L.
(2007). Games that work: Using computer games to
teach alcohol-affected children about fire and street
safety. Research in Developmental Disabilities, 28,
518530.
Cordero, J. F., Floyd, R. L., Martin, M. L., Davis, M., &
Hyymbaugh, K. (1994). Tracking the prevalence of
FAS. Alcohol Health Research World, 18, 8285.
Costello, E. J., Angold, A., Burns, B. J., Stangl, D. K.,
Tweed, D. L., Erkanli, A., & Worthman, C. M. (1996).
The Great Smoky Mountains study of youth. Goals,
design, methods, and the prevalence of DSM-IIIR disorders. Archives of General Psychiatry, 53,
1,1291,136.
Cytowic, R. E. (1996). The neurological side of neuropsychology. Cambridge: MIT Press.
254
Davis, D. (1994). Reaching out to children with FAS/
FAE. West Nyack: The Center for Applied Research
in Education.
Denny, C. H., Tsai, J., Floyd, R. L., & Green, P. P. (2009).
Alcohol use among pregnant and nonpregnant women
of childbearing ageUnited States, 19912005. Morbidity and Mortality Weekly Report, 58, 529532.
Doig, J. D., McLennan, J.D., & Gibbard, B. (2008).
Medication effects on symptoms of attention deficit/
hyperactivity disorder in children with fetal alcohol
spectrum disorder. Journal of Child and Adolescent
Psychopharmacology, 18(4), 365371.
Egeland, G. M, Katherin, P. H., Gessner, B. D., Ingle, D.,
Berner, J. E., & Middaugh, J. P. (1998). Fetal alcohol
syndrome in Alaska, 1977 through 1992: An administrative prevalence derived from multiple data sources.
American Journal of Public Health, 88, 781786.
Famy, C., Streissguth, A. P., & Unis, A. S. (1998). Mental
illness in adults with fetal alcohol syndrome or fetal
alcohol effects. The American Journal of Psychiatry,
155, 552554.
FASD Regional Training Centers Curriculum Development Team (2009). Fetal alcohol spectrum disorders
competency-based curriculum development guide
for medical and allied health education and practice. Atlanta, GA: Centers for Disease Control and
Prevention.
Feldman, R. S., Meyer, J. S., and Quenzer, L. F. (1997).
Principles of neuropsychopharmacology. Sunderland:
Sinauer Associates.
Fetal Alcohol Spectrum Disorders Center for Excellence
(2004). Starting the conversation: Town hall meetings
on fetal alcohol spectrum disorders. Rockville: Center
for Substance Abuse Prevention, Substance Abuse and
Mental Health Services Administration.
Finer, L. B., & Henshaw, S. K. (2006). Disparities in rates
of unintended pregnancy in the United States, 1994
and 2001. Perspectives on Sexual and Reproductive
Health, 38, 9096.
Floyd, R. L., Decoufle, P., Hungerford, D. W. (1999).
Alcohol use prior to pregnancy recognition. American
Journal of Preventive Medicine, 12, 101107.
Floyd, R. L., Weber, M. K., Denny, C., & OConnor, J.
(2009). Prevention of fetal alcohol spectrum disorders. Developmental Disabilities Research Reviews,
15, 193199.
Frankel, F., Paley, B., Marquardt, R., & OConnor, M.
(2006). Stimulants, neuroleptics, and childrens
friendship training for children with fetal alcohol
spectrum disorders. Journal of Child and Adolescent
Psychopharmacology, 16, 777789.
Fryer, S. L., McGee, C. L., Matt, G. E., Riley, E. P., &
Mattson, S. N. (2007). Evaluation of psychopathological conditions in children with heavy prenatal alcohol
exposure. Pediatrics, 119(3), e733e741.
Fryer, S. L., Schweinsburg, B. C., Bjorkquist, O. A., Frank,
L. R., Mattson, S. N., Spadoni, A. D., & Riley, E. P.
(2009). Characterization of white matter microstructure in fetal alcohol spectrum disorders. Alcoholism,

Gabriel, K., Hofmann, C., Glavas, M., & Weinberg,
J. (1998). The hormonal effects of alcohol use on
the mother and fetus. Alcohol Health Research, 22,
170177.
Guralnick, M. J (Ed.) (1997). The effectiveness of early
intervention. Baltimore: Paul H. Brookes.
Henry, J., Sloane, M., & Black-Pond, C. (2007). Neurobiology and neurodevelopmental impact of childhood
traumatic stress and prenatal alcohol exposure. Language, Speech, Hearing Services Schools, 38, 99108.
Hostetter, M. K., Iver, S., Dole, K., & Johnson, D. (1989).
Unsuspected infectious diseases and other medical
diagnoses in the evaluation of internationally adopted
children. Pediatrics, 83, 559564.
Hoyme, H. E., May, P. A., Kalberg, W. O., Kodituwakku,
P., Gossage, J. P., Trujillo, P. M., Buckley, D. G.,
Miller, J. H., Aragon, A. S., Khaole, N., Viljoen, D.
L., Jones, K. L., & Robinson, L. K. (2005). A practical
clinical approach to diagnosis of fetal alcohol spectrum disorders: Clarification of the 1996 Institute of
Medicine criteria. Pediatrics, 115, 3947.
Ismail, S., Buckley, S., Budacki, R., Jabbar, A., Gallicano,
G. I. (2010). Screening, diagnosing and prevention of
fetal alcohol syndrome: Is this syndrome treatable?
Developmental Neuroscience, 21, 91100.
Jacobson, J. L., & Jacobson, S. W. (2002). Effects of prenatal alcohol exposure on child development. Alcohol
Research Health, 26, 282286.
Jacobson, S. W., Stanton, M. E., Molteno, C. D., Burden, M. J., Fuller, D. S., Hoyme, H. E., Robinson, L.
K., Khaole, N., & Jacobson, J. L. (2008). Impaired
eyeblink conditioning in children with fetal alcohol
syndrome. Alcoholism, Clinical and Experimental
Research, 32, 365372.
Janzen, L. A., Nanson, J. L., & Block, G. W. (1995). Neuropsychological evaluation of preschoolers with fetal
alcohol syndrome. Neurotoxicol Teratol, 17, 273279.
Jerrells, T. R., & Weinberg, J. (1998). Influence of ethanol
consumption on immune competence of adult animals
exposed to ethanol in utero. Alcoholism, Clinical and
Johnson, V. P., Swayze, V. W., Sato, Y., & Andreasen,
N. C. (1996). Fetal alcohol syndrome: Craniofacial
and central nervous system manifestations. American
Jones, K. L. (2006). Fetal alcohol syndrome. In Jones, K.
(ed), Smiths Recognizable Patterns of Human Malformation (6th ed., pp.646651). Philadelphia: W.B.
Saunders.
Jones, K. L., & Smith, D. W. (1973). Recognition of the
fetal alcohol syndrome in early infancy. Lancet, 2,
9991001.
Jones, K. L., Smith, D. W., Ulleland, C. N., & Streissguth,
A. P. (1973). Pattern of malformation in offspring of
chronic alcoholic mothers. Lancet, 1, 12671271.
Kabel, J. A., & Coles, C. D. (2004). Teratology of alcohol:
Implications for school settings. In R. T. Brown (Ed.),
Handbook of pediatric psychology in school settings
(pp.379404). Mahway: LE.
Kabel, J. A., Coles, C. D., & Taddeo, E. (2007). Sociocognitive habilitation using the math interactive learning experience program for alcohol affected children.
14251434.
Kerns, K. A., Don, A., Mateer, C. A., & Streissguth, A. P.
(1997). Cognitive deficits in nonretarded adults with
fetal alcohol syndrome. Journal of Learning Disabilities, 30, 685693.
Kodituwakku, P. W. (2009). Neurocognitive profile in
children with fetal alcohol spectrum disorders. Developmental Disabilities Research Reviews, 15, 218224.
Kolb, B., & Whishaw, I. Q. (1995). Fundamentals of
human neuropsychology (4th ed.). New York: W.H.
Freeman and Company.
Kopera-Frye, K., Carmichael-Olson, H., & Streissguth,
A. P. (1997). Teratogenic effects of alcohol on attention. In J. A. Burack and J. T. Enns (Eds.) Attention,
Development and Psychopathology (p. 171204).
New York: The Guilford Press.
Kraft, E., Chen, A. W., Flaherty, A. W, Blood, A. J.,
Kwong, K. K., & Jenkins, B. G. (2007). The role of
the basal ganglia in bimanual coordination. Brain
Research, 1151, 6273.
Kvigne, V. L., Leonardson, G. R., Borzelleca, J., Brock,
E., Neff-Smith, M., & Welty, T. K. (2003). Characteristics of mothers who have children with fetal alcohol
syndrome or some characteristics of fetal alcohol syndrome. The Journal of the American Board of Family
Practice, 16, 296303.
Kvigne, V. L., Leonardson, G. R., Borzelleca, J., NeffSmith, M., & Welty, T. K. (2009). Characteristics of
children whose siblings have fetal alcohol syndrome
or incomplete fetal alcohol syndrome. Pediatrics, 123,
e526e533.
Kyllerman, M., Aronson, M., Sabel, K. G., Karlberg, E.,
Sandin, B., & Olegard R. (1985). Children of alcoholic
mothers. Acta Paediatrica Scandinavica, 74, 2026.
Lebel, C., Rasmussen, C., Wyper, K., Walker, L., Andrew,
G., Yager, J., & Beaulieu, C. (2008). Brain diffusion
abnormalities in children with fetal alcohol spectrum
disorder. Alcoholism, Clinical and Experimental
Research, 32(10), 17321740.
Lee, K. T., Mattson, S. N., Riley, E. P. (2004). Classifying
children with heavy prenatal alcohol exposure using
measures of attention. Journal of the International
Neuropsychological Society, 10, 271277.
Lemoine, P., Harousseau, H., Borteyru, J. P., & Menuet, J.
C. (1968). Les enfants de parent alcoolique: Anomalie
observees a propos de 127 cas (Children of alcoholic
parent: Abnormalities observed in 127 cases). Quest
Medical, 21, 476482.
Lipkin, P. H., & Schertz, M. (2008). Early intervention
and its efficacy. In P. J. Accardo (Ed.), Capute and
Accardos neurodevelopmental disabilities in infancy
and childhood: Vol 1. Neurodevelopmental diagnosis
and treatment (3rd ed., pp.519552). Baltimore: Paul
H. Brookes.
Loomes, C., Rasmussen, C., Pei, J., Manji, S., & Andrew,
G. (2008). The effects of rehearsal training on working
255
memory span of children with fetal alcohol spectrum

disorder. Research in Developmental disabilities, 29,
113124.
Ma, X., Coles, C. D., Lynch, M. E., LaConte, S. M., Zurkiya, O., Wang, D., & Hu, X. (2005). Alcoholism, Clinical and Experimental Research, 29(7), 12141222.
Marcus, J. C. (1987). Neruological findings in the fetal
alcohol syndrome. Neuropediatrics, 18, 158160.
Mattson, S. N., & Riley, E. P. (1998). A review of the
neurobehavioral deficits in children with fetal alcohol
syndrome or prenatal exposure to alcohol. Alcoholism,
Mattson, S. N., & Vaurio, L. (2010). Fetal alcohol spectrum disorders. In G. Taylor, D. Ris, and K. Yeates
(Eds.), Pediatric neuropsychology: Research, theory,
and practice (2nd ed., pp.265293). New York: Guilford Press.
Mattson, S. N., Riley, E. P., Jernigan, T. L., Ehlers, C.
L., Delis, D. C., Jones, K. L., Stern, C., Johnson,
K. A., Hesselink, J. R., & Bellugi, U. (1992). Fetal
alcohol syndrome: A case report of neuropsychological, MRI, and EEG assessment of two children.
10011003.
Mattson, S. N., Jernigan, T. L., & Riley, E. P. (1994).
MRI and prenatal alcohol exposure. Alcohol Health &
Research World, 18, 4952.
Mattson, S. N., Riley, E. P., Sowell, E. R., Jernigan, T. L.,
Sobel, D. F., & Jones, K. L. (1996). A decrease in the
size of the basal ganglia in children with fetal alcohol syndrome. Alcoholism, Clinical and Experimental
Research, 20, 10881093.
Mattson, S. N., Riley, E. P., Gramling, L., Delis, D. C., &
Jones, K. L. (1997). Heavy prenatal alcohol exposure
with or without physical features of fetal alcohol syndrome leads to IQ deficits. Journal of Pediatrics,131,
718721.
Mattson, S. N., Riley, E. P., Gramling, L., Delis, D. C., &
Jones, K. L. (1998). Neuropsychological comparison
of alcohol-exposed children with or without physical
features of fetal alcohol syndrome. Neuropsychology,
12, 146153.
Mattson, S. N., Goodman, A. M., Caine, C., Delis, D. C.,
& Riley, E. P. (1999). Executive functioning in children with heavy prenatal alcohol exposure. Alcoholism, Clinical and Experimental Research, 23(11),
18081815.
Mattson, S. N., Calarco, K. E., & Lang, A. R. (2006).
Focused and shifting attention in children with heavy
prenatal alcohol exposure. Neuropsychology, 20,
361369.
Mattson, S. N., Riley, E. P., Archibald, S. A., et al. (2001).
Caudate volume predicts CVLT-C and WCST performance in children with heavy prenatal alcohol
exposure. Alcoholism, Clinical and Experimental
Research, 25(Suppl. 5), 74A.
May, P. A., & Gossage, J. P. (2001). Estimating the prevalence of Fetal Alcohol Syndrome: A summary. Alcohol
Research & Health: The Journal of the National Institute on Alcohol Abuse and Alcoholism, 25, 159167.
256
May, P. A., Hymbaugh, K. J., Aase, J. M., & Samet, J.
M. (1983). Epidemiology of fetal alcohol syndrome
among American Indians of the Southwest. Social
Biology, 30, 374387.
May, P. A., Gossage, J. P., Kalberg, W. O., Robinson, L.
K., Buckley, D., Manning, M., Hoyme, H. E. (2009).
Prevalence and epidemiologic characteristics of FASD
from various research methods with an emphasis on
recent in-school studies. Developmental Disabilities
Meyer, J. S., & Quenzer, L. F. (2005). Psychopharmacology: Drugs, the brain and behavior. Sunderland:
Sinauer Associates.
Michaelis, E. K., & Michaelis, M. L. (1994). Cellular and
molecular bases of alcohols teratogenic effects. Alcohol Research & Health: The Journal of the National
Institute on Alcohol Abuse and Alcoholism, 16, 1721.
Mirkes, P. E. (Ed.). (2003). Congenital malformations
surveillance report: A report from the national birth
defects prevention network. Birth Defects Research,
67, 617624.
Mitchell, K. T. (2002). Fetal alcohol syndrome: Practical suggestions and support for families and caregivers. Washington, DC: National Organization on Fetal
Alcohol Syndrome.
Mitchell, K. T., Bertrand, J., Rupp, T., Adubato, S., &
Zimmerman-Bier, B. (2009). Treatment across the life
span for persons with fetal alcohol spectrum disorders. In Fetal alcohol spectrum disorders competencybased curriculum development guide for medical and
allied health education and practice. Atlanta: Centers
for Disease Control and Prevention.
Moore, E. S., Waard, R. E., Jamison, P. L., Morris, C. A.,
Bader, P. I., & Hall, B. D. (2002). New perspectives on
the face in fetal alcohol syndrome: What anthropometry tells us. American Journal of Medical Genetics,
109, 249260.
Nanson, J. L., & Hiscock, M. (1990). Attention deficits
in children exposed to alcohol prenatally. Alcoholism,
Norman, D. A., & Shallice, T. (2000). Attention to action:
Willed and automatic control of behavior. In M. S.
Gazzaniga (Ed.), Cognitive neuroscience: A reader.
Oxford: Blackwell.
Norman, A. L., Crocker, N., Mattson, S. N., & Riley, E. P.
(2009). Neuorimaging and fetal alcohol spectrum disorders. Developmental Disabilities Research Reviews,
15, 209217.
OConnor, M. J., & Paley, B. (2009). Psychiatric conditions associated with prenatal alcohol exposure.
Developmental Disabilities Research Reviews, 15,
225234.
OConnor, M. J., Kogan, N., & Findlay, R. (2002). Prenatal alcohol exposure and attachment behavior in
children. Alcoholism, Clinical and Experimental
Research, 26, 15921602.
OConnor, M. J., Frankel, F., Paley, B., Schonfeld, A.
M., Carpenter, E., Laugeson, E. A., & Marquardt, R.
(2006). A controlled social skills training for children

with fetal alcohol spectrum disorders. Journal of Consulting and Clinical Psychology, 74, 639648.
Olson, H. C., Jirikowic, T., Kartin, D., & Astley, S. (2007).
Responding to the challenge of early intervention for
fetal alcohol spectrum disorders. Infants & Young
Children, 20(2), 172189.
Oesterheld, J. R., & Wilson, A. (1997). ADHD and FAS.
Journal of the American Academy of Child and Adolescent Psychiatry, 36, 1163.
OMalley, K. D., & Nanson, J. (2002). Clinical implications of a link between fetal alcohol spectrum disorder
and attention-deficit hyperactivity disorder. Canadian
Journal of Psychiatry, 47, 349354.
Paley, B., OConnor, M. J., Kogan, N., Findlay, R. (2005).
Prenatal alcohol exposure, child externalizing behavior, and maternal stress. Parenting Science Practice,
5, 2956.
Paley, B., OConnor, M. J., Frankel, F., Marquardt, R.
(2006). Predictors of stress in parents of children with
fetal alcohol spectrum disorders. Journal of Developmental and Behavioral Pediatrics, 27, 396404.
Paley, B., & OConnor, M. J. (2009). Intervention for
individuals with fetal alcohol spectrum disorders:
Treatment approaches and case management. Developmental Disabilities Research Reviews, 15, 258267.
Pennington, B. F., Bennetto, L., McAleer, O., & Roberts,
R. J. (1996). Executive functions and working memory: Theoretical and measurement issues. In G. R.
Lyon and N. A. Krasnegor (Eds.) Attention, Memory,
and Executive Function (pp. 265282). Baltimore:
Paul Brookes.
Posner, M. I., & Petersen, S. E. (1990). The attention system of the human brain. The Annual Review of Neuroscience, 13, 2542.
Riikonen, R. S., Salonen, I., Partanen, K., et al. (1999).
Brain perfusion SPECT and MRI in fetal alcohol syndrome. Developmental Medicine and Child Neurology, 41, 652659.
Riikonen, R. S., Nokelainen, P.,Valkonen, K., Kolehmainen, A. I., Kumpulainen, K. I., Kononen, M.,
Vanninen, R. L., & Kuikka, J. T. (2005). Deep serotonergic and dopaminergic structures in fetal alcoholic
syndrome: A study with nor-b-CIT-single-photon
emission computed tomography and magnetic resonance imaging volumetry. Biological Psychiatry, 57,
15651572.
Riley, E. P., & McGee, C. L. (2005). Fetal alcohol spectrum disorders: An overview with emphasis on
changes in brain and behavior. Experimental Biology
and Medicine, 230, 357365.
Riley, E. P., Mattson, S. N., Sowell, E. R., Jernigan, T.
L., Sobel, D.F., & Jones, K.L. (1995). Abnormalities
of the corpus callosum in children prenatally exposed
to alcohol. Alcoholism, Clinical and Experimental
Research, 19, 11981202.
Robert, M., Carceller, A., Domken, V., Ramos, F.,
Dobrescu, O., Simard, M. N., & Gosselin, J. (2009).
Physical and neurodevelopmental evaluation of children adopted from Eastern Europe. The Canadian
Journal of Clinical Pharmacology, 16, e432e440.
Roebuck, T. M., Simmons, R. W., Richardson, C., Mattson, S. N., & Riley, E. P. (1998). Neuromuscular
responses to disturbance of balance in children with
prenatal exposure to alcohol. Alcoholism, Clinical and
Roebuck, T. M., Mattson, S. N., Riley, E. P. (1999).
Behavioral and psychosocial profiles of alcoholexposed children. Alcoholism, Clinical and Experimental Research, 23, 10701076.
Ryan, D. M., Bonnett, D. M., & Gass, C. B. (2006).
Sobering thoughts: Town hall meetings on fetal alcohol spectrum disorders. American Journal of Public
Health, 96, 20982101.
Shin, M., Besser, L.M., Siffel, C., Kucik, J.E., Shaw,
G.M., Lu, C., Correa, A., and the Congenital Anomaly
Multistate Prevalence and Survival Collaborative.
(2010). Prevalence of Spina Bifida among children
and adolescents in 10 regions in the United States.
Pediatrics, 126(2), 274279.
Snyder, J., Nanson, J., Snyder, R. E., & Block, G. (1997).
A study of stimulant medication in children with FAS.
In A. Streissguth, & J. Kanter, (Eds.). Overcoming and
preventing secondary disabilities in fetal alcohol syndrome and fetal alcohol effects (pp. 6477). Seattle:
University of Washington Press.
Sowell, E. R., Mattson, S. N., Thompson, P. M., Jernigan, T. L., Riley, E. P., & Toga, A. W. (2001). Mapping
callosal morphology and cognitive correlates: Effects
of heavy prenatal alcohol exposure. Neurology, 57,
235244.
Sowell, E. R., Johnson, A., Kan, E., Lu, L. H., Van Horn,
J. D., Toga, A. W., OConnor, M. J., & Bookheimer,
S. Y. (2008). Mapping white matter integrity and neurobehavioral correlates in children with fetal alcohol
spectrum disorders. Journal of Neuroscience, 28,
13131319.
Steinhausen, H. C., Nestler, V., & Spohr, H. L. (1982).
Development of psychopathology of children with the
fetal alcohol syndrome. Journal of Developmental and
Stratton, K., Howe, C., & Battaglia, F (Eds.) (1996). Fetal
alcohol syndrome: Diagnosis, Epidemiology, Prevention, and Treatment. Washington, DC: Institute of
Medicine, National Academy Press.
Streissguth, A. P. (1997). Fetal alcohol syndrome: A
guide for families and communities. Baltimore: Paul
Brookes.
Streissguth, A., & Kanter, J (Eds.) (1997). The challenge
of fetal alcohol syndrome: Overcoming secondary disabilities. Seattle: University of Washington Press.
Streissguth, A. P., Barr, H. M., Sampson, P. D., ParrishJohnson, J. C., Kirchner, G. L., & Martin, D. C.
(1986). Attention, distraction, and reaction time at age
7 years and prenatal alcohol exposure. Neurobehavioral Toxicology and Teratology, 8, 717725.
Streissguth, A. P., Barr, H. M., Kogan, J., Bookstein, F.
L. (1996). Understanding the occurrence of secondary disabilities in clients with fetal alcohol syndrome (FAS) and fetal alcohol effects (FAE): Final
257
report. Seattle: University of Washington Publication

Services.
Streissguth, A. P., Bookstein, F. L., Barr, H. M., Sampson, P. D., OMalley, K., & Young, J. K. (2004). Risk
factors for adverse life outcomes in fetal alcohol syndrome and fetal alcohol effects. Developmental and
Behavioral Pediatrics, 25(4), 228238.
Sulik, K. K. (2005). Genesis of Alcohol-induced craniofacial dysmorphism. Experimental Biology and Medicine, 230, 366375.
Sulik, K. K., Johnston, M. C., & Webb, M. A. (1981).
Fetal alcohol syndrome: Embryogenesis in a mouse
model. Science, 214, 936938.
Swayze 2nd, V. W., Johnson, V. P., Hanson, J. W., Piven,
J., Sato, Y., Giedd, J. N., Mosnik, D., & Andreasen,
N. C. (1997). Magnetic resonance imaging of brain
anomalies in fetal alcohol syndrome. Pediatrics, 99,
232240.
Thomas, S. E., Kelly, S. J., Mattson, S. N., & Riley, E. P.
(1998). Comparison of social abilities of children with
fetal alcohol syndrome to those of children with similar IQ scores and normal controls. Alcoholism, Clinical and Experimental Research, 22, 528533.
Uecker, A., & Nadel, L. (1996). Spatial locations gone
awry: Object and spatial memory deficits in children
with fetal alcohol syndrome. Neuropsychologia, 34,
209223.
University of Minnesota. (2010). International adoption
project: Fetal alcohol syndrome research. www.med.
umn.edu/peds/iac/research/fas/home.html. Accessed
16 August 2010.
Warren, K., Floyd, L., Calhoun, F., Stone, D., Bertrand,
J., Streissguth, A., Lierman, T., Riley, E., OMalley,
K., Cook, J., Carlson, S., Donaldson, T., Mitchell, K.,
Brown, T., & Little, A. (2004). Consensus Statement
on FASD. Washington, DC: National Organization on
Fetal Alcohol Syndrome.
Warren, K. R., & Hewitt, B. G. (2009). Fetal alcohol
spectrum disorders: When science, medicine, public
policy, and laws collide. Developmental Disabilities
Webster, W. S., Walsh, D. A., Lipson, A. H., & McEwen,
S. E. (1980). Teratogenesis after acute alcohol exposure in inbred and outbred mice. Neurobehav Teratol,
2, 227234.
Weinberg, J., Silwowska, J. H., Lan, N., Hellemans, K. G.
C. (2008). Prenatal alcohol exposure: Fetal programming, the hypothalamic-pituitary-adrenal axis and sex
differences in outcome. Journal of neuroendocrinology, 20, 470488.
Whaley, S. E., OConnor, M. J., & Gunderson, B. (2001).
Comparison of the adaptive functioning of children
prenatally exposed to alcohol to a nonexposed clinical sample. Alcoholism, Clinical and Experimental
Research, 25, 118124.
Williams, M. S., & Shellenberger, S. (1996). How Does
Your Engine Run? A leaders guide to the Alert ProgramTM for Self-Regulation. Albuquerque: TherapyWorks, Inc.
258
Winokur, M. (2009). My invisible world. Brooklyn Park:
Better Endings New Beginnings.
Woodruff-Pak, D. S., Goldenberg, G., Downey-Lamb, M.
M., Boyko, O. B., & Lemieux, S. K. (2000). Cerebellar volume in humans related to magnitude of classical
conditioning. Neuroreport, 11, 609615.
Wozniak, J., Biederman, J., Spencer, T., & Wilens, T.
(1997). Pediatric psychopharmacology. In A. J. Gelen-

berg & E. L. Bassuk (Eds.), The practitioners guide to
psychoactive drugs (4th ed., pp.385415). New York:
Plenum.
Wozniak, J. R., Mueller, B. A., Chang, P. N., Muetzel,
R. L., Caros, L., & Lim, K. O. (2006). Diffusion tensor imaging in children with fetal alcohol spectrum
disorders. Alcoholism, Clinical and Experimental
Research, 30, 17991806.
Newborn Screening for

Congenital Disorders
in Routine and Research
13
Bent Nrgaard Pedersen and David Michael Hougaard
Abstract
Newborn screening (NBS) for the congenital disorders phenylketonuria

(PKU) and congenital hypothyroidism (CH) using dried blood spot samples (DBSS) started in the 1960s and 1970s. Since then significant technological advances in laboratory testing using tandem mass spectrometry
(MSMS) and genotyping technology have made it possible to screen for
an expanding number of serious congenital disorders. At the same time,
new possibilities of efficient treatment have emerged making it of utmost
importance to recognize the disorders as early in life as possible. New exciting research possibilities are now also possible using DBSS from NBS
biobanks and recently developed multianalyte techniques. The purpose of
this chapter is to present some of this progress in routine and research
based on primarily Danish experience, including focus on legal, ethical,
and practical aspects.
Abbreviations
ACMG American Council of Medical Genetics

CH Congenital Hypothyroidism
CLSI Clinical Laboratory Standard Institute
DBSS Dried Blood Spot Samples
LIMS Laboratory Information Management System
MSMS Tandem Mass Spectrometry
NBS Newborn Screening
PKU Phenylketonuria
B. N. Pedersen () D. M. Hougaard
Section of Neonatal Screening and Hormones,
Department of Clinical Biochemistry and Immunology,
Statens Serum Institut, Artillerivej 5, 2300 Copenhagen S,
Denmark
e-mail: bnp@ssi.dk
D. M. Hougaard
e-mail: DH@ssi.dk
259
260
QA Quality Assurance
T4 Thyroxine
TSH Thyroid Stimulating Hormone
UK-NSCUnited Kingdom National Screening Committee
13.1Introduction
The purpose of newborn screening (NBS) is essentially to identify newborns with serious congenital disorders so that early treatment can be
implemented and serious adverse outcome prevented.
The biochemical screening is based on the
analysis of a few drops of capillary blood collected and dried on a special filter paper. For children
and newborns with special health care needs, it is
important to ensure that NBS for congenital disorders is performed as carefully as possible, e.g.,
that the dried blood spot samples (DBSS) are
taken and examined several times during the neonatal period. Newborns referred to special care
baby units or neonatal intensive care units due to
low birth weight, preterm birth, or illness should
all have special attention concerning NBS.
The scope of this chapter is to describe NBS
that identifies inborn errors of metabolism, hormonal defects, and other disorders by means of
testing shortly after birth. The Danish NBS program will be described as an example of a routine
program with emphasis also on related research
and the use and regulations for the Danish NBS
biobank now containing 2 million samples that
DBSS stored since 1982 (Norgaard-Pedersen and
Hougaard 2007). Exciting developments with genotyping methods and new multiplex technologies will also be described making the future possibilities for NBS almost unlimited.
13.2History of Newborn Screening

(NBS)
NBS was introduced in the early 1960s by Guthrie (Guthrie and Susi 1963) using a filter paper
bacterial inhibition assay (phenylalanine assay)
B. N. Pedersen and D. M. Hougaard

Table 13.1 History of NBS
19601963: Screening for PKU by filter paper bacterial
inhibition assay (Guthrie) for Phenylalanine
1975: Screening for CH by T4 or TSH
19801990: Screening for other congenital disorders
such as congenital adrenogenital syndrome (CAH),
cystic fibrosis (CF), galactosemia (GAL) sickle-cell
anaemia (SCA), and biotinidase deficiency
19902010: Screening for amino acid, organic acid and
fatty acid disorders by MSMS analyses and screening
for severe combined immune deficiencies (SCID) by
DNA analysis
in screening newborns for phenylketonuria

(PKU). The PKU infants were treated with lowPhenylalanine diet and mental retardation could
almost be prevented.
The DBSS that were easy to collect and mail to
a central laboratory could also be used for screening for other diseases and in 1975 Dussault etal.
described a mass screening program for congenital hypothyroidism (CH) using thyroxine (T4).
A few years later, Illig etal. (1977) showed that
thyroid stimulating hormone (TSH) was also a
reliable alternative. As shown in Table13.1, NBS
for several other congenital disorders was introduced in the period 19801990 (Pang etal. 1982;
Crossley etal. 1979; Wolf and Heard 1991; Beutler 1991). However, the real breakthrough came
in the 1990s when tandem mass spectrometry
(MSMS) was introduced in screening simultaneously for amino acid, organic acid, and fatty acid
disorders (Millington etal. 1990). This multiplex
technology together with the fact that DNA could
be extracted and analyzed from DBSS opened a
new exciting era of NBS (McCabe etal. 1987).
For a more extensive history of NBS, see also the
review by Therell (2010).
13.3Current Screening Programs

13.3.1Guidelines
The classic screening criteria for early disease
detection by population Screening are described
in the World Health Organization (WHO)
principles by Wilson and Jungner in 1968
(Table13.2). Although this report is not specific
13 Newborn Screening for Congenital Disorders in Routine and Research

Table 13.2 Principles of early disease detection. (Source:
Wilson and Jungner 1968)
The condition sought for should be an important health
problem
There should be an accepted treatment for patients with
recognized disease
Facilities for diagnosis and treatment should be
available
There should be a recognizable latent or early symptomatic state
There should be a suitable test or examination
The test or examination should be acceptable to the
population
The natural history of the condition, including development from latent to declared disease, should be
adequately understood
There should be an agreed on policy as to whom to
treat as patients
The cost of case finding (including diagnosis and treatment of patients diagnosed) should be economically
balanced in relation to possible expenditure on medical
care as a whole
Case finding should be a continuing process and not a
once and for all project
for NBS PKU screening is mentioned, and most

of these criteria are taken into consideration defining national NBS guidelines. For example,
in the Danish guidelines from 2008 for Biochemical Screening for Congenital Diseases in
Newborns, the NBS criteria are summarized as
follows:
1. The disease should be serious, i.e., severe
mental retardation (PKU).
2. There should be an effective treatment.
3. Early treatment is important for prevention of
disease.
4. The disease is not clinically evident at birth.
5. A reliable test for NBS should be available
(high detection rate and low false positive
rate).
6. There should be possible prevention of early
death.
Furthermore, the benefit should be reasonably
balanced against financial costs. These criteria
for NBS are also similar to those described by the
American Council of Medical Genetics (ACMG
2006), by the United Kingdom National Screening Committee (UK-NSC; Politt 2007), by the
Genetic Society of Australia (Wilcken and Wiley
2008), and other countries.
261
Table 13.3 Congenital disorders in the Danish NBS

program
Congenital hypothyreosis (CH)
Congenital adrenal hyperplasia (CAH)
Phenylketonuria (PKU)
Maple syrup urine disease (MSUD)
Medium-chain Acyl-CoA dehydrogenase deficiency
(MCADD)
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
Very long-chain acyl-CoA dehydrogenase deficiency
(VLCADD)
Glutaric acidemia (type-1; GA-1)
Multiple carboxylase deficiency (MCD)
Carnitin transporter deficiency (CTD)
Tyrosinemia (TYR)
Argininosuccinyl-CoA lyase deficiency (ASL)
Bionitidase deficiency (BIOT)
Propionic acidemia (PA)
Methylmalonic acidemia (MMA)
13.3.2Programs in Different Countries

In the United States, the ACMG has developed
a uniform screening panel using 19 criteria and
a scoring system. The final recommendations
identified 29 primary target conditions and 25
secondary targets (ACMG 2006).
The Danish NBS guidelines make use of the
ACMG facts sheets for identifying core disorders to screen for. However, the scoring system
is modified to be less technology driven and,
therefore, only 15 diseases are included in the
program (see Table13.3).
The Danish guidelines from 2008 also include
the following recommendations:
1. Sample collection 4872 hours after birth.
2. Premature newborns should have a second
sample in week 32.
3. New information pamphlet to parents (see
Sect.13.3.3).
4. If screening is declined, a signed blank
card should be mailed to the newborn.
5. Screening laboratory.
Finally, a better follow-up should take
place both short term and long term.
In United Kingdom, the UK-NSC also used
19 criteria, but only recommended screening for
PKU, CH, MCAD, and cystic fibrosis. In Germa-
262
ny and The Netherlands, the primary screening

targets are similar to the Danish program.
13.3.3Information to Parents
Consent from the parents is required for NBS
tests. It is therefore important that parents are
well informed before they take their decision.
The staff performing the blood collection should
explain about the test and its importance. A
pamphlet describing in details all aspects of the
screening program and what happened to surplus
of the sample after testing should also be given.
This should be available in relevant languages.
See below as an example an extract of the English version of the Danish information pamphlet:
Information on the Heel Prick Test A simple
blood test is carried out 4872 hours after birth
to check whether your baby has any congenital
disorders that may need urgent treatment. This
blood test cannot be performed unless you, as
parents, give your permission. If you say no, the
test will not be carried out.
How is it done? A few drops of blood are collected on a filter paper card after pricking the
skin on one of the babys heels. This rarely
causes the baby any discomfort.
How important is this test for your baby?
Even if a baby appears completely healthy
at birth, he or she may, in rare cases, have
a congenital disorder, such as a metabolic
defect. As long as babies are still in the
womb, they are protected by the mothers
metabolism. Disorders of this type therefore
do not become apparent until after birth.
The disorder may develop slowly as harmful metabolic products build up in the blood,
or it may develop suddenly, in the form of
metabolic crises that are potentially fatal for
the baby. The longer treatment is delayed, the
greater the risk for the baby dying or developing lasting mental or physical harm. For
the babys sake, it is therefore very important
to detect such a disease and start treatment as
quickly as possible.
What specific disorders are screened for? On

the Statens Serum Institut website you will
find a list of the rare congenital disorders currently screened for, and more detailed information on the individual disorders. If your
baby has one of these disorders, you will be
informed immediately and asked to bring your
baby in for further examination and treatment
at the local paediatric department, often in
cooperation with the Kennedy Centre or the
clinical genetics departments of Copenhagen
University Hospital and Skejby Hospital Aarhus University.
How reliable is the test? As it is a screening
test, in rare cases, results might be obtained
that suggest a disorder is present when it is
not, particularly in the case of premature
babies. This will quickly become apparent in
the more detailed examination that immediately follows. Nor can screening rule out all
disorders. Firstly, it is not technically possible
to screen for all congenital disorders, and secondly screening is carried out only for disorders for which early detection means better
treatment options that benefit the baby.
Other Information
What happens to the blood after the test has
been performed?
The sample will be kept frozen in locked and
secure facilities in the Neonatal Screening
Biobank at Statens Serum Institut. Storing the
sample in a biobank means that the test can
be repeated if there is any subsequent doubt
about the diagnosis, or additional analyses can
be performed that were not available at the
time of birth. In rare cases, the sample has also
proved important in the reliable identification
of a person who is the victim of an accident,
natural disaster, crime, etc., later in life. The
aim is always to have an adequate sample for
these purposes. Any surplus sample material,
as in all other laboratories that analyze blood
samples, is used in regular quality assurance and the development of new analytical
methods.
The biobank also serves as a national resource
of great importance to medical research. Use
for research purposes, however, depends on

the approval of a research ethics committee
and the Danish Data Protection Agency. The
biobanks management committee must also
approve this use.
The individual blood sample is given a code
number at Statens Serum Institut. Unauthorized individuals cannot therefore identify
the source of the sample. Information on the
childs name, date of birth and birth weight
and the length of the pregnancy, as well as the
mothers name and civil registry number, are
kept separately from the sample itself.
You decide what happens to the sample on
behalf of your baby.
If you do not want the sample to be used in
medical research for ethically approved purposes, you can inform the tissue use registry
of the Danish National Board of Health. You
can find further information on this at www.
sundhedsstyrelsen.dk/vaev, where you will
also find an article entitled Your tissue, your
choice.
If you do not wish the sample to be retained
at all, you can write to the Section for Neonatal Screening, KBI, Statens Serum Institut
and the sample will then be destroyed. Statens
Serum Instituts website www.ssi.dk/nyfoedte also has more detailed information on the
Neonatal Screening Biobank.
13.4Laboratory Procedures and

Analysis
13.4.1Sampling
In most countries, the DBSS is usually taken as a
heel prick blood sample 4872 hours after birth
at the local hospital or at home. The sample cards
that also contain identification data together with
demographic and clinical information are mailed
to the central NBS Laboratory. Here, all samples
are inspected and DBSS that are contaminated
or contain insufficient blood volume are deemed
unsuitable and new samples are requested. However, unsuitable samples are usually analyzed
because a preliminary abnormal result may be
263
valid. In Denmark, the DBSS and the affixed information card are both bar-coded and then separated. Data on the information card are scanned
into a laboratory information management system (LIMS) and the card is stored in a locked
archive. The bar-coded DBSS are processed by
special equipment called a puncher that reads
the bar code and then punches the required number of 3.2-mm disks from the blood spots into microtiter wells. One series of microtiter plates are
prepared for each assay included in the screening. After the laboratory analyses are finished,
surplus of the DBSS is stored in a separate locked
freezer at 20C.
13.4.2Laboratory Methods
Many analytical techniques are well established
for use in a routine NBS laboratory including,
colorimetric, enzymatic, or chromatographic
assays, microbiological inhibition testing, and
various immunoassays. Until the 1990s, most of
these screening tests determined one analyte as a
marker for a particular disorder. However, with
the introduction of MSMS into screening programs a new era began and it became possible to
determine many analytes, amino acids, and acylcarnitines, from a single 3.2-mm punch from a
DBSS and thus screen for many disorders at the
same time. Twelve of the 15 disorders screened
for in Denmark is, for example, detected by
MSMS analysis of a single 3.2-mm DBSS disk,
whereas the three remaining disorders each require a separate disk and assay.
13.4.3Cut-off Establishments and

Quality Assurance (QA)
Together with the suitability of the marker(s) for
detecting a particular disorder and the quality of
the analysis, the establishments of the cut-off values determine the efficiency of the NBS. A too
high value may result in false negative tests and
a too low value in unacceptable numbers of false
positive tests, which stress the babies and parents and is a burden on hospital resources. NBS
264
laboratories should thus participate in external

quality assurance (QA) programs as described
in Clinical Laboratory Standard Institute (CLSI)
guidelines (CLSI 2006, 2007, 2008, 2010). The
laboratory should demonstrate its analytical
capabilities, the efficiency of the established
cut-offs for disease markers, and also QA for
the nonlaboratory screening components. Usually, the laboratory should be certified, i.e., ISO
17025 and have regular inspections by a certified
agency. To be able to closely monitor the performance of the NBS and adjust if necessary, it is
also important that the screening laboratory always receives feedback from the physicians who
diagnose and treat babies that have been referred
to them.
13.4.4Clinical Laboratory Standard

Institute (CLSI)
In recent years, there has been more and more
focus on all procedures involved in NBS environment in order to improve and fine-tune the
whole process. Several guidelines have been
published by CLSI after contribution from many
international key persons involved in NBS (see
CLSI 2006, 2007, 2008, 2010). These guidelines
are certainly helpful as a template but may be
modified according to local recommendations.
13.5Archived Neonatal Blood Spot

Samples
13.5.1Storage Policy
Storage policies for residual DBSS from NBS
programs vary internationally and will not be reviewed here. Here, we will only as an example
discuss the Danish NBS Biobank (NBS-Biobank) and register (Norgaard-Pedersen and Hougaard 2007).
For nearly 30 years (since 1982), residual
DBSS from the national NBS have been stored
in a biobank at 20C. The storage has taken
place according to regulations from The Ministry
of Health in 1993 and also according to newer
guidelines for the establishment and operation of

biobanks in general. Latest regulations on biobanks published in September 2004 as guidelines
from the Ministry of Health are very similar to
the previous regulations.
The claims are:
1. The biobank and register must be registered
and accepted by The Danish Data Protection
Agency (www.datatilsynet.dk) with information about purpose, operation, data-responsible authority, biobank responsible person, etc.
(Act on processing of personal data).
2. According to Act on patients right. This law
concerns self-determination for a clinical
biobank concerning informed consent and the
right to opt out, to destruction or to retrieval of the biobank material.
3. Procedure for use of biobank material for research must always be accepted by the Scientific Ethical Committee System according to
Act on Scientific Committee (www.cvk.sum.
dk/cvk/home/english).
4. According to Act on Health the Biobank, responsible person(s) is/are responsible according to general rules for health care personal
concerning secrecy confidentiality, etc. Complaint concerning biobanks can be directed to
The Health Care Patients Complaints Authority, Danish National Board of Health.
Before the blood is collected, the parents are
informed about storage of surplus of the DBSS
by local health professionals and through the
pamphlet as described in Sect. 13.3.3). The
NBS-Biobank has been included in the accreditation ISO 17025 of the screening laboratory
since 1998. The yearly inspection by Danish Accreditation Authority (DANAK) ensures that the
biobank lives up to this certification concerning
traceability, documentation, QA, etc. The Biobank Regulations implement the EU-directive
95/46/EC on the protection of individuals with
regard to the processing of personal data and on
the free movement of such data.
In 2005, a Steering Committee for scientific
use of the NBS-Biobank was set up with the main
purpose of administering the use of the samples
for research. Since the stored DBSS contain only
a very limited amount of blood, the further use
after routine neonatal screening has to be prioritized to ensure that enough blood is left to serve
the most important purposes, which are:
1. First priority is the analyses of DBSS for the
benefit of child and family.
2. Second priority is the development of new
methods for NBS analyses.
3. Third priority is the research projects.
The Committee was founded as a request from
the Danish Medical Research Council together
with a major grant for establishment of a complete digitalized register for the NBS-Biobank as
a national research resource. The Steering Committee for Scientific Use of the Biobank is appointed every 3 years by the managing director
of Statens Serum Institut (SSI). It consists of five
members, two from SSI and three external.
After proper approval from The Danish Data
Protection Agency and The Scientific Ethical
Committee System, the Steering Committee
for Scientific Use of the NBS-Biobank decides
which research projects are to make use of blood
samples. The Committee evaluates the scientific
value of the projects and the appropriateness of
the proposed analytical technology. In practice,
the Committee shall ensure that state-of-the-art
multiplex microtechnology is used for the analysis of the samples, and guarantee that there is
always enough blood left on each sample to complete the necessary medical analyses in direct
relation to the original purpose of storage (First
priority).
13.5.2Use of Archived Samples

The use of the stored DBSS samples is listed in
Table13.4. First priority for use is for the benefit
of child and family. This applies to diagnosis and
treatment of the disorders screened for involving
control and documentation, and repeated analyses if any of the diseases should develop later in
infancy. Reanalysis of the original DBSS may be
the only way to ascertain and document if sample mix-up or other unfortunate events has taken
place. For diagnostic use in other cases of unexpected morbidity or mortality during infancy,
DBSS from the NBS-Biobank may be used for
265
Table 13.4 The Danish NBS register and biobank. The

stored information and biobank is used for the followings
Diagnosis and treatment of PKU, CH and IEM
Control, documentation and repeated analyses
QA and assay improvement
Nonindividual-based statistics
Specific disease testing (informed consent)
Medicolegal use (court order)
Research projects using biochemical, genetical, and
environmental markers
determination of the causes. Usually, request for

these examinations are made by pediatricians and
clinical geneticists after informed consent by the
parents. Sometimes it is also relevant to include
examination of siblings. Examples include congenital infection suspected of being present at
birth or in the neonatal period, where the only way
to make a definitive diagnosis is to analyze the
neonatal DBSS for specific IgM antibodies and
for nucleic acid sequences or antigens from the
suspected microorganism. Investigation for cytomegalovirus (CMV) infection by demonstration
of CMV-specific IgM and nucleic acid sequences
by PCR, or Toxoplasmosis by IgM may be important for identification of the etiology of hearing loss, retarded development, hydrocephalus,
or abnormalities found by cerebral imaging (intracerebral calcifications). Biochemical analyses
of DBSS from the NBS-Biobank have also given
diagnostic information for carbohydrate-deficient
glycoprotein (CDG) syndrome by electrophoretic
analyses of transferrin (Petersen etal. 1993), peroxisomal deficiencies by gas chromatography,
and mass spectrometry and fatty acids oxidation
disorders by MSMS (Jacobs etal. 1993).
Genetic testing using DNA extracted from
a DBSS has mainly been carried out in cases
where a proband has died before genetic disease
was suspected, or before a genetic analysis was
done. Examples include congenital epidermolysis bullosa and genetic ion channel defects causing Long QT Syndrome (Christiansen etal. 2005;
Larsen etal. 1997).
For medicolegal use, the stored neonatal
DBSS have, always after court order, been used
for identification of victims in accidents such as
the tsunami disaster and also in crime scene investigations.
266
Storage of DBSS in the NBS-Biobank is also

important for QA and assay improvement, which
has second priority for use of samples. Evaluation of improved neonatal screening methods can
be carried out as retrospective screening studies.
MSMS screening for PKU was thus introduced
as a prospective evaluation compared with the
Guthrie test after a retrospective screening study,
a more sensitive and faster time-resolved fluorimetric sandwich assay (DELFIA) for CH replaced our old in-house radioimmunoassay (Arends and Norgaard-Pedersen 1986), and a commercially available Toxo IgM assay (DELFIA)
replaced a similar in-house assay.
Research studies, which have third priority
for use of DBSS from the NBS-Biobank, include
retrospective screening for new screening targets, allele frequency studies and case-control
studies of etiology, and pathogenesis of a number of late-onset disorders (Eising et al. 2007).
The patients are identified by their unique CPRnumber through medical registers from clinical
departments and from Danish public health registers containing information on different diseases.
By the CPR-number, DBSS in the NBS-Biobank
from cases as well as from appropriate controls
can be retrieved. After collection of case/control
DBSS, the study is made anonymous and the
examinations can be carried out as a so-called
register-type study after approval by the Data
Protection Agency, the Scientific Ethical Committee, and the Steering Committee for Scientific
Use of the NBS-Biobank. Some studies have
been carried out after written informed consent
and usually only 45% did not want to participate
(Christensen etal. 1999).
Retrospective case/control samples from the
NBS-Biobank represent a highly efficient way to
evaluate new screening techniques, i.e., proof of
concept. Such evaluations have been carried out
for cystic fibrosis using a two-tiered approach
employing immunoreactive trypsin and F508
(IRT/F508) mutation analysis (Norgaard-Pedersen et al. 1999), for congenital toxoplasmosis
using a new assay for toxoplasma-specific IgM
(Lebech et al. 1999) and for different inborn
errors of metabolism (IEM) using MSMS. All
retrospective screening studies confirmed that
screening could be started without the need for

expensive prospective trials. Data based on the
use of DBSS from The Danish NBS-Biobank
also indicate that it may be possible to screen for
lysosomal storage disorder and severe combined
immune deficiency (SCID).
Since the NBS-Biobank contains unselected
material with essentially universal coverage of
the entire populations of Denmark, Greenland,
and Faeroe Island, it is also an optimal source for
allele frequency studies. These studies include
mutations for medium-chain acyl CoA dehydrogenase deficiency (MCAD; Lundemose et al.
1993), apolipoprotein B-3500 (Hansen et al.
1994), Factor V. Leiden (Larsen etal. 1998), hereditary hemochromatosis (Merryweather-Clarke
et al. 1999), lutenizing hormone (Nilsson et al.
1998), follicle-stimulating hormone receptor
(Jiang et al. 1998), Bylers disease (Eiberg etal.
2003), and carnitine transporter holocarboxylase
deficiencies (Lund etal. 2007).
The NBS-Biobank is also extremely useful
for identifying susceptibility alleles for various
diseases by genome-wide association studies that
require access to DNA from thousands of wellcharacterized patients and healthy controls. The
amount of DNA available in neonatal DBSS is,
however, rarely sufficient for reliable genomewide scans and subsequent in-depth sequencing, which make whole genome amplification
(WGA) necessary. Recent development within
this field makes it possible to reliably scan the
whole genome for a million single-nucleotide
polymorphisms (Hollegaard etal. 2009a, b).This
has recently been used for identification of genetic variations associated with schizophrenia
(Stefansson etal. 2009).
Determination of specific antibodies against
microorganisms and measurement of vitamin
D in archived newborn DBSS has also contributed to cast light on the pathogenesis of schizophrenia (Eyles et al. 2009; McGrath etal. 2010;
Mortensen etal. 2007, 2010).
Infectious disease and vaccination epidemiology is another area where useful information can be obtained especially if DBSS can be
matched with maternal samples from the same
pregnancy. Such paired motherchild samples
have been used to determine the seroconversion

and maternal-fetal transmission rates for parvovirus B19 (Valeur-Jensen etal. 1999) and toxoplasmosis (Lebech and Petersen 1992). As IgG
from the mother cross the placenta barrier, it is
also possible to assess the efficiency of vaccination programs by monitoring her specific IgG
response determined in the neonatal DBSS from
her children born at different years (Aggerbeck
etal. 1996).
The development of multiplex immunoassay
technologies that can measure concentration of
cytokines in newborn DBSS opens for new possibilities to study the correlation between perinatal inflammation and preterm birth and the development of central nervous system disorders such
as cerebral palsy and autism (Skogstrand et al.
2005, 2008a, b; Klamer etal. 2007).
13.6Future Development
The new multianalyte technologies such as
MSMS and DNA microarray (DNA chips) will
permit detection of several orphan diseases, and
indeed the neonatal screening has moved from
the Guthrie age to the genetic age (Dhondt
2007). These new technologies will also change
the traditional screening from preventive medicine to that of predictive medicine, i.e., screening for susceptibility to complex disorders such
as diabetes type 1, asthma, schizophrenia, autism, etc. Another important development for
NBS is the appearance of new treatments for so
far untreatable disorders, i.e., lysosomal storage
disorders (Gelb etal. 2006). Future screening especially predictive screening must be very carefully evaluated especially from legal, ethical, and
consumer point of view.
References
ACMG Newborn Screening-Expert Group. (2006). A
Newborn screening panel and system. Genetics in
Medicine, 8, 1252.
Aggerbeck, H., Norgaard-Pedersen, B., & Heron, I.
(1996). Simultaneous quantitation of diphtheria and
tetanus antibodies by double antigen, time-resolved
267
fluorescence immunoassay. Journal of Immunological

Methods, 190, 171183.
Arends, J., & Norgaard-Pedersen, B. (1986). Immunofluorometry of thyreoropin from wholeblood spots on
filter paper to screen for congenital hypothyroidism.
Clinical Chemistry, 32, 18541856.
Beutler, E. (1991). Galactosemia: Screening and diagnosis. Clinical Biochemistry, 24, 293400.
Christensen, K., Olsen, J., Norgaard-Pedersen, B., Basso,
O., Stvring, H., Milhollin-Johnson, L., etal. (1999).
Oral clefts, transforming growth factor alpha gene
variants, and maternal smoking: A population-based
case-control study in Denmark, 19911994. American
Journal of Epidemiology, 149, 248255.
Christiansen M., Tonder N., Larsen L. A., Andersen P.
S., Simonsen H., Oyen, N., Kanters, J. K., Jacobsen,
J. R., Fosdal, I., Wettrell, G., & Kjeldsen, K. (2005).
Mutations in the HERG K+-ion channel: A novel link
between long QT syndrome and sudden infant death
syndrome. American Journal of Cardiology, 95(3),
433434.
CLSI. (2006). Newborn screening follow-up: Approved
guideline. CLSI document I/LA27-A. Wayne: Clinical
and Laboratory Standards Institute.
CLSI. (2007). Blood Collection on Filter Paper for Newborn Screening Programs; Approved Standard-Fifth
edition. CLSI document LA4-A5. Wayne: Clinical and
Laboratory Standards Institute.
CLSI. (2008). Newborn screening guidelines for premature and/or sick newborn; proposed guideline. CLSI
document I/LA31-P. Wayne: Clinical and Laboratory
Standards Institute.
CLSI. (2010). Newborn screening by tandem mass spectrometry; approved guideline, CLSI document I/LA32A. Wayne: Clinical and Laboratory Standards Institute.
Crossley, J. R., Elliott, R. B., & Smith, P. A. (1979).
Dried-blood spot screening for cystic fibrosis in the
newborn. Lancet, 1, 472474.
Dhondt, J. L. (2007). Neonatal screening: From the
Guthrie age too the genetic age. Journal of Inherited Metabolic Disease, 30, 418422.
Dussault, J. H., Coulombe, P., Laberge, C., Letarte, J.,
Guyda, H., & Khoury, K. (1975). Preliminary report
on a mass screening program for neonatal hypothyroidism. Journal of Pediatrics, 86, 670467.
Eiberg, H., Norgaard-Pedersen, B., Nielsen, I.-M. (2003).
Cholestasis familiaris Groenlandica/Byler-like disease in GreenlandA population study (Circumpolar
healthProceedings of the 12th international congress on circumpolar health). International Journal of
Circumpolar Health, 63(Suppl.2), 189193.
Eising, S., Svensson, J., Skogstrand, K., Nilsson, A.,
Lynch, K., Andersen, P. S., Lernmark, ., Hougaard,
D. M., Pociot, F., Norgaard-Pedersen, B., & Nerup, J.
(2007). Type 1 diabetes risk analysis on dried blood
spot samples from population-based newborns:
Design and feasibility of an unselected case-control
study. Paediatric and Perinatal Epidemiology, 21,
507517.
268
Eyles, D., Anderson, C., Ko, P., Jones, A., Thomas, A.,
Burne, T., Mortensen, P. B., Norgaard-Pedersen, B.,
Hougaard, D. M., McGrath, J. (2009). A sensitive
LC/MS/MS Assay of 250H vitamin D3 and vitamin
D2 in dried blood spots. Clinical Chimica Acta, 403,
145151.
Gelb, M. H., Turecek, F., Scott, C. R., & Chamoles, N.
A. (2006). Direct multiplex assay of enzymes in dried
blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. Journal of Inherited Metabolic Disease, 29, 397404.
Guthrie, R., & Susi, A. (1963). A simple phenylalanine
method for detecting phenylketonuria in large populations of newborn infants. Pediatrics, 32, 338343.
Hansen, P. S., Norgaard-Pedersen, B., Meinertz, H., Jensen, H. K., Hansen, A. B., Klausen, I. C., Gerdes, L.
U., & Faergeman, O. (1994). Incidence of the apolipoprotein B-3500 mutation in Denmark. Clinical Chimica Acta, 230, 101104.
Hollegaard, M. V., Grauhold, J., Brglum, A., Nyegaard,
M., Norgaard-Pedersen, B., rntoft, T. F., Mortensen,
P. B., Wiuf, C., Mors, O., Didriksen, M., Thorsen, P.,
Hougaard, D. M. (2009a). Genome-wide scans using
archived neonatal dried blood spot samples. BMC
Genomics, 10, 297.
Hollegaard, M. V., Thorsen, P., Norgaard-Pedersen, B., &
Hougaard, D. M. (2009b). Genotyping whole genome
amplified DNA from 325 year old neonatal dried
blood spot samples with reference to fresh genomic
DNA. Electrophoresis, 30, 25323535.
Illig, R., Torresanti, T., & Sobradillo, B. (1977). Early
detection of neonatal hypothyroidism by serial TSH
determination in dried blood. Six months experience
with a reliable, efficient and inexpensive method. Helvetica Paediatrica Acta, 32, 289297.
Jacobs, C., van den Heuvel, C. M., Stellaard, F., Largilliere, C., Skovby, F., & Christensen, E. (1993). Diagnosis of Zellweger syndrome by analysis of very
long-chain fatty acids in stored blood spots collected
at neonatal screening. Journal of Inherited Metabolic
Disease, 16, 6366.
Jiang, M., Aittomaki, K., Nilsson, C., Pakarinen, P., Iti,
A., Torresani, T., Simonsen, H., Goh, V., Pettersson,
K., de la Chapelle, A., & Huhtaniemi, I. (1998). The
frequency of an inactivating point mutation (566CT)
of the human follicle-stimulating hormone receptor
gene in four populations using allele-specific hybridization and time-resolved fluorometry. The Journal of Clinical Endocrinology and Metabolism, 83,
43384343.
Klamer, A., Skogstrand, K., Hougaard, D. M., NorgaardPedersen, B., Juul, A., & Greisen, G. (2007). Adiponectin levels measured in dried blood spot samples
from neonates born small and appropriate for gestational age. Clinical Study. European Journal of Endocronology, 157, 16.
Larsen, L. A., Fosdal, I., Andersen, P. S., Kanters, J. K.,
Vuust, J., Wetrell, G., & Christiansen, M. (1997).
Recessive Romano-Ward syndrome associated with
compound heterozygosity for two mutations in the

KVLQT1 gene. European Journal of Human Genetics, 7, 724728.
Larsen, T. B., Lassen, J. F., Brandslund, I., Byriel, L.,
Petersen, G. B., & Norgaard-Pedersen, B. (1998). The
Arg506Gln mutation (FV Leiden) among a cohort
of 4188 unselected Danish newborns. Thrombosis
research, 89, 211215.
Lebech, M., Andersen, O., Christensen, N. C., Hertel, J.,
Nielsen, H. E., Peitersen, B., Rechnitzer, C., Larsen,
S. O., Norgaard-Pedersen, B., & Petersen, E. (1999).
Feasibility of neonatal screening for toxoplasma infection in the absence of prenatal treatment. Lancet, 353,
18341837.
Lebech, M., & Petersen, E. (1992). Neonatal screening for
congenital toxoplasmosis in Denmark: Presentation of
the design of a prospective study. Scandinavian Journal of Infectious Diseases, 84(Suppl), 7579.
Lund, A. M., Joensen, E., Hougaard, D. M., Jensen, L.
K., Christensen, E., Christensen, M., Norgaard-Pedersen, B., Schwartz, M., & Skovby, F. (2007). Carnitine
transporter and holocarboxylase synthetase deficiencies in the Faroe Islands. Journal of Inherited Metabolic Disease, 30, 3419.
Lundemose, J. B., Gregersen, N., Klvraa, S., NorgaardPedersen, B., Gregersen, M., Helweg-Larsen, K., &
Simonsen, J. (1993). The frequency of a disease-causing point-mutation in the gene coding for mediumchain acyl-CoA dehydrogenase (MCAD) in Sudden
Infant Death Syndrome (SIDS). Acta Paediatrica, 82,
544546.
McCabe, E. R., Huang, S. Z., Selzer, W. K., & Law, M. L.
(1987). DNA micro extraction from dried blood spots
on filter paper blotters; potential applications to newborn screening. Human Genetics, 75, 213216.
McGrath, J. J., Eyles, D. W., Pedersen, C. B., Anderson, C., Ko, P., Burne, T. H., Norgaard-Pedersen, B.,
Hougaard, D. M., Mortensen, P. B. (2010). Neonatal
vitamin D status and risk of schizophrenia: A population-based case-control study. Archives of General
Merryweather-Clarke, A. T., Simonsen, H., Shearman, J.
D., Pointon, J. J., Norgaard-Pedersen, B., Robson, K.
J. (1999). A retrospective anonymous pilot study in
screening newborns for HFE mutations in Scandinavian populations. Human Mutation, 13, 154159.
Millington, D. S., Kodo, N., Norwood, D. L., & Roe, C.
R. (1990), Tandem mass spectrometry; a new method
for acylcarnitine profiling with potential for neonatal
screening for inborn errors of metabolism. Journal of
Inherited Metabolic Disease, 13, 321324.
Ministry of Health. (1993). Executive order of 14 January 1993. Regulations for the PKU Registry at Statens
Serum Institut. Copenhagen: Ministry of Health.
Mortensen, P. B., Norgaard-Pedersen, B., Waltoft, B. L.,
Sorensen, T. L., Hougaard, D., Torey, E. F., & Yolken,
R. H. (2007). Toxoplasma gondii as a risk factor for
early-onset schizophrenia: Analysis of filter paper
blood samples obtained at birth. Biology Psychiatry,
61, 688693.

Mortensen, P. B., Pedersen, C. B., Hougaard, D. M.,
Nrgaard-Petersen, B., Mors, O., Brglum, A. D., &
Yolken, R. H. (2010). A Danish National Birth Cohort
study of maternal HSV-2 antibodies as a risk factor
for schizophrenia in their offspring. Schizophrenia
Research, 122, 257263.
Nilsson, C., Jiang, M., Pettersson, K., Iiti, A., Makela,
M., Simonsen, H., Easteal, S., Herrera, R. J., & Huhtaniemi, I. (1998). Determination of a common genetic
variant of luteinizing hormone using DNA hybridization and immunoassays. Clinical Endocrinology, 49,
369376.
Norgaard-Pedersen, B., & Hougaard, D. M. (2007). Storage policies and use of the Danish Newborn Screening
Biobank. Journal of Inherited Metabolic Disease, 30,
530536.
Norgaard-Pedersen, B., Hgdall, E., Iiti, A., Arends, J.,
Dahlen, P., & Vuust, J. (1999). Immunoreactive trypsin and a comparison of two DF508 mutation analyses
in newborn screening for cystic fibrosis: An anonymous pilot study in Denmark. Screening, 2, 111.
Pang, S., Murphey, W., Levine, L. S., Spence, D. A., Leon,
A., LaFranchi, S., Surve, A. S., & New, M. I. (1982). A
pilot newborn screening for congenital adrenal hyperplasia in Alaska. Journal of Clinical Endocrinology
And Metabolism, 55, 413420.
Petersen, M. B., Brostrm, K., Stibler, H., & Skovby, F.
(1993). Early manifestations of the carbohydrate-deficient glycoprotein syndrome. Journal of Pediatrics,
122, 6670.
Politt, R. J. (2007). Introducing new screens: Why are we
all doing different things? Journal of Inherited Metabolic Disease, 30, 423429.
Skogstrand, K., Thorsen, P., Norgaard-Pedersen, B.,
Schendel, D. E., Sorensen, L. C., Hougaard, D. M.
(2005). Simultaneous measurement of 25 inflammatory markers and neurotrophins in neonatal dried
blood spots by immunoassay with xMAP technology.
Clinical Chemistry, 51, 18541866.
269
Skogstrand, K., Ekelund, C. K., Thorsen, P., Vogel, I.,

Jacobsen, B., Norgaard-Pedersen, B., Hougaard, D.
M. (2008a). Effects of blood sample handling procedures on measurable inflammatory markers in plasma,
serum and dried blood spot samples. Journal of Immunological Methods, 336, 7884.
Skogstrand, K., Hougaard, D. M., Norgaard-Pedersen, B.,
Schendel, D. E., Svrke, C., & Thorsen, P. (2008b).
Association of preterm birth with sustained postnatal
inflammatory response. Obstetrics and Gynecology,
111, 11181128.
Stefansson, H., Ophoff, R. A., Steinberg, S., Andreassen,
O. A., Cichon, S, Rujescu, D., Werge, T., Pietilainen,
O. P. H., Mors, O., Mortensen, P. B., Sigurdsson, E.,
Gustafsson, O., Nyegaard, M., Tuulio-Henriksson, A.,
Ingason, A., Hansen, T., Suvisaari, J., et al. (2009).
Common variants conferring risk of Schizophrenia.
Nature, 460, 744747.
Therell, B. L. (2010). Newborn dried blood spot sceening. In C. J. Driscoll & B. McPherson (Eds.), Newborn
screening systems (pp. 133156). San Diego: Plural
Publishing.
Valeur-Jensen, A. K., Pedersen, C. B., Westergaard, T.,
Jensen, I. P., Lebech, M., Andersen, P. K., Aaby, P.,
Norgaard Pedersen, B., & Melbye, M. (1999). Risk
factors for parvovirus B19 infection in pregnancy.
Journal of the American Medical Association, 281,
10991105.
Wilcken, B., & Wiley, V. (2008). Newborn screening.
Pathology, 40, 104115.
Wilson, J. M. G., Jungner, G. (1968). Principles and practice of screening for disease. Geneva: World Health
Organization.
Wolf, B., & Heard, G. S. (1991). Biotinidase deficiency.
Advances in Pediatrics, 38, 121.
Genetic and Metabolic

Conditions for Children
14
David Hollar
Abstract
Public health disease prevention programs have expanded newborn screening to most nations, although lack of access to prenatal and birth care continues to be a major challenge to improving child health and reducing morbidity/mortality in poor, rural, and other disadvantaged regions. Newborn
screening involves collection of a few blood spots from a newborn infants
heel, followed by rapid laboratory analysis, often at a centralized testing
facility, and relaying of the test results to the pediatrician for appropriate
action. Such testing and rapid reporting are important for some genetic
conditions such as phenylketonuria and classical galactosemia, where
failure to provide treatment and restricted diets within days can result in
severe brain damage, permanent disability, and/or death. Newborn screening started in the 1970s with a core set of tested conditions, including
phenylketonuria, sickle-cell anemia and other hemoglobinopathies, galactosemia, and congenital hypothyroidism. Beginning around 2000, the
invention of Tandem Mass Spectrometry enabled testing of a wide array
of additional amino acid, organic acid, and fatty acid metabolic conditions
so that currently in the United States, more than 50 genetic or metabolic
conditions are tested. An overview of many of these screened conditions is
provided along with resources for more information, although the number
of documented, different conditions numbers in the thousands, most of
which cannot be diagnosed with current newborn screening technology.
The provided resources provide excellent details and emphasize the importance of proper prenatal and postnatal pediatric care and monitoring to
identify these conditions if they arise. Most conditions are treatable with
proper nutritional restrictions.
D. Hollar ()
University of North Carolina at Chapel Hill, CB 7530,
Chapel Hill, NC 27599, USA
e-mail: David_Hollar@med.unc.edu,
David_Hollar@att.net
271
272
Abbreviations
CoA Coenzyme A
CF Cystic Fibrosis
DNA Deoxyribonucleic Acid
G6PDD Glucose 6 Phosphate Dehydrogenase Deficiency
LCADD Long-Chain Acyl-Coenzyme A
Dehydrogenase Deficiency
LCHADD Long-Chain Hydroxy Acyl-Coenzyme A Dehydrogenase Deficiency
MCADD Medium-Chain Acyl-Coenzyme
A Dehydrogenase Deficiency
MCKAT Medium-Chain 3-Ketoacyl-Coenzyme A Thiolase
MSUD Maple Syrup Urine Disease
SCADD Short-Chain Acyl-Coenzyme A
Dehydrogenase Deficiency
SCHADD Short-Chain HydroxyAcyl-Coenzyme A Dehydrogenase Deficiency
NAD Nicotinamide Adenine Dinucleotide
OMIM Online Mendelian Inheritance
in Man
RNA Ribonucleic Acid
14.1Introduction
As described in Chap. 13, newborn screening
programs are widely used in developed nations
and are expanding, with World Health Organization and other international program promotions
in all nations to screen every child born in a hospital for potential life-threatening genetic and
physical conditions. Due to lethal effects of some
conditions in the first days following birth, the
birth health care team collects a small blood sample, usually from the infants heel and sends the
sample to a centralized biochemistry laboratory
to test for up to 60 potential genetic and/or metabolic conditions, some of which are described in
this chapter. In addition, physical examination of
the newborn infant or by a pediatrician within the
critical first weeks following birth can identify
an array of physical birth defects (see Chap.15).
D. Hollar
Consequently, maternal and child health programs strongly advocate early and frequent
prenatal health care (especially during the first
trimester of pregnancy) for women who are pregnant, birth assisted by professional clinicians, and
early pediatrician visits and immunizations in the
weeks following birth. Nevertheless, widespread
health disparities exist in the availability of such
services even in the more developed nations such
that millions of children worldwide experience
unnecessary negative health outcomes. Many genetic and metabolic conditions are easily treated
with appropriate nutrition.
Many children with special health care needs
(CSHCN) have genetic or metabolic conditions,
although the percentages of children with these
conditions are imprecise and vary geographically. It is important to emphasize that the causes
of these conditions include inheritance and/or
indirect environmental exposures to the unborn
child during pregnancy. Whereas certain maternal behaviors (e.g., substance abuse, improper
nutrition) have been shown to contribute to genetic mutations and birth defects, a vast array of
factors might contribute to the ultimate cause of
many conditions, so that assignment of blame
to parents could be misguided and would be
both useless as well as irresponsible. Instead, the
focus needs to be on early diagnosis, treatment,
and support for CSHCN and their families so that
children with these conditions can lead optimal
lives. Here, we provide general information and
useful resources for families, policymakers, and
researchers.
14.2The Genetic Basis of Many

Conditions
Every person develops from a single, fertilized
egg (i.e., zygote) that contains roughly complementary genetic information (i.e., chromosomes)
from each parent. The zygote begins dividing
disproportionately into groups of cells, some of
which will become the new person, others which
will become support tissues (e.g., placenta) that
provide protection and interface with the mothers blood supply for nutrition. Whereas every
14 Genetic and Metabolic Conditions for Children with Special Health Care Needs
cell contains identical genetic information, different cells undergo genetically programmed, sequential gene control changes and differentiation
to specialize as various body structures and functions. These changes occur by precise genetic
control changes on some of the approximately
30,000 genes present on the chromosomes of
each cell, thereby affecting the messenger RNA
production, regulation, and protein production
encoded by many of these genes, with modification of these proteins and excretion of some
proteins and other biological compounds into the
spaces in between cells. These excreted biological molecules provide gradients of chemical signals to neighboring cells, thereby providing positional information that directs the fate of cells,
groups of cells, and entire tissues (Wolpert etal.
2011; see also Chap.15).
14.2.1A Synopsis of Human Genetics,

Inheritance, and Mutation
The approximately 30,000 functioning genes in
the human genome are located on 24 chromosomes. With the exception of reproductive cells,
every cell in the body has two copies of chromosomes 122 and either two X chromosomes
(female) or one X and one Y chromosome (male).
Therefore, nonreproductive human cells normally have 46 chromosomes. Due to errors during
meiosis in either the sperm or the egg, the first
cell (zygote) of a new individual might have an
extra copy of a chromosome, and in triplicate,
overexpression of extra genes located on three
chromosomes can disrupt normal development
and chemical balances throughout the body. In
addition, pieces of chromosomes can be accidentally duplicated or deleted, also disrupting normal cell and body physiologies.
Finally, mutations, or changes in the DNA
code of individual genes, can affect the enzyme
coded by a particular gene. If the function of the
enzyme is insignificant, then we have distinguishing features of human uniqueness (e.g., eye color
variations). However, if the enzyme controls one
or several body functions, then a mutation affecting the enzyme might have severe effects. All of
273
these scenarios depend on the importance of the

enzyme in a critical life function.
As humans have two copies of every gene in
every nonreproductive cell, a mutation in one
gene can be masked by the normal gene; this
happens when the mutant gene is recessive to
the normal gene so that its effects do not show
up in the persons physiology. When a mutant
gene is masked by a normal gene, the person
is termed heterozygous for the condition. It is
likely that most people carry a few lethal recessive mutations in their cells, but these mutations
are masked. Sometimes the normal gene can be
deactivated in specific tissues so that the mutant
gene becomes expressed.
Conversely, a dominant mutation will always
be expressed because it will mask the normal
gene in heterozygous individuals. Nevertheless,
some dominant mutations such as polydactyly
(i.e., many fingers or toes) are incompletely penetrant and may be affected by environmental and/
or other epigenetic factors.
Most of the genetic and metabolic conditions
described below involve single, recessive gene
mutations that must be present in two copies of
every cell of the individual (i.e., homozygous) in
order to show their dangerous effects. Therefore,
the individual will have received a mutant gene
from each parent. If the mutation is located on an
X chromosome, males will be far more likely to
express the mutation than females because males
have only one X chromosome, whereas females
have two X chromosomes so that the presence of
a mutation in a gene on one X chromosome most
likely will be masked by a normal version of the
gene on the companion X chromosome.
Whereas, many mutations described below
impact intelligence and, therefore, behavior,
the expanding public health focus on behavioral
disabilities such as Attention Deficit Hyperactivity Disorder (ADHD) and autism has yielded
inconclusive genetic-environmental causes.
These behavioral conditions are of such complexity and variety that it is likely that multiple
genes (e.g., polygenic inheritance) are involved
instead of single genes. The complexity of such
genetic interactions largely remains unknown at
present.
274
D. Hollar
14.2.2Human Uniqueness
14.2.5Epigenetics
Every person is genetically unique, except for

monozygotic twins, but even then individual exposures to different environments, chemicals, and
experiences can epigenetically modify the DNA
of cells within ones body. With approximately
30,000 functional genes in the 46-chromsome
human genome for every cell of the body, plus billions of apparently noncoding DNA nucleotides
that might have regulatory roles, slight changes
make each person unique. Williams (1956) calculated that, for just 100 genes, the probability of
having no abnormal genes is less than 1%. Therefore, every person inherits abnormal genes.
Furthermore, evidence indicates that an individuals development can be genetically impacted

by exposures to famine and other experiences
encountered by an individuals grandparents
(Pembrey et al. 2006)! These transgenerational
epigenetic effects occur via methylation of specific DNA sequences in genes (Fraga etal. 2005;
Symonds 2010) that can be maintained and transmitted in sperm and egg. This discovery leaves us
with a sobering realization: our experiences and
exposures to chemicals and events can affect our
descendants over many generations (Pembrey
et al. 2006). There is additional evidence that
immune incompatibilities between mother and
father can severely impact a pregnancy (Pearson
2002). Epigenetic research is young, so much
work remains to understand its impact upon individual development and conditions.
14.2.3Inborn Errors of Metabolism

With Hugo De Vries early twentieth-century rediscovery of Gregor Mendels principles of inheritance and the linkage of these principles to
chromosomal inheritance via the cellular division processes of mitosis and meiosis, biologists
began to understand the inheritance of various
abnormal conditions. Among the first physiological conditions to be confirmed as inherited
included alcaptonuria (darkened urine due to the
accumulation of homogentisic acid), phenylketonuria (described in Sect.14.3.1), and albinism.
Induced mutation studies in fungi and invertebrate animals further demonstrated the connection between genes, enzymes, and metabolic
pathways (Gardner and Snustad 1984).
14.2.4Consanguinity
Consanguinity increases the likelihood of a child
expressing a recessive lethal or nonadaptive mutation. When two parents are closely related, they
are more likely to carry similar genes, including
recessive mutations. Therefore, if related parents
have children, each conception increases the risk
for bringing a sperm carrying a recessive mutation to an egg carrying the same mutation, resulting in the child expressing the condition encoded
by the mutant gene.
14.3Genetic and Metabolic

Conditions
All genetic conditions can be further researched
in detail by visiting the Online Mendelian Inheritance in Man (OMIM) website, a collection first developed by Dr. Victor A. McKusick
(1966, 1990, 1998) and currently curated by the
National Center for Biotechnology Information
and Johns Hopkins University at www.ncbi.nim.
nih.gov/omim; the National Newborn Screening
and Genetics Resource Center (genes-r-us.uthscsa.edu); the Hastings Center (www.thehastingscenter); American College of Medical Genetics
(www.acmg.net); the CSHCN advocacy group
Family Voices (www.familyvoices.org); and
the March of Dimes (www.marchofdimes.com/
peristats/nbsdefinitions.aspx). In addition, Kaye
(2006) provided a straightforward overview for
many conditions. Also see the Newborn Screening Coding and Terminology Guide (http://newbornscreeningcodes.nlm.nih.gov/) for more information, including links to the OMIM website
and other useful genetic links.
Genetic and molecular conditions identifiable
by Tandem Mass Spectrometry (see Chap. 13)
include the following conditions, characteristics

of which are presented from the cited sources
and from the OMIM website (www.ncbi.nim.
nih.gov/omim). For purposes of newborn screening, the genetic and metabolic conditions are arbitrarily divided into categories roughly related
to: (a) amino acid, (b) nitrogen, (c) fatty acid, (d)
organic acid, and (e) other genetic and metabolic
conditions. All of the conditions listed below are
autosomal recessive conditions, meaning that
they are expressed only when the mutation is inherited from both parents, when the gene is located (i.e., linked) on the X chromosome (thereby
predominantly affecting males), or when there is
mixed expression between the mutant and normal genes in heterozygous individuals due to a
variety of gene regulatory effects. Dominant mutations (e.g., Huntington Disease; Chromosome
4p16.3; OMIM 143100) are always expressed
when present, but they are rare because of their
usual early development lethal effects in utero,
although Huntingtons disease involves neurodegeneration later in life.
14.3.1Amino Acid Conditions

Phenylketonuria
(Chromosome
12q24.1;
OMIM condition number 261600) occurs approximately once for every 20,000 births and was
one of the first conditions tested when newborn
genetic screening programs started. In phenylketonuria, the body produces abnormally low levels of phenylalanine hydroxylase, an enzyme that
normally converts the amino acid phenylalanine
to the amino acid tyrosine, resulting in the accumulation of toxic levels of phenylalanine in brain
tissue, resulting in permanent brain damage and
severe mental retardation. With early detection
via newborn screening, prescription of a lifelong,
low-phenylalanine diet results in normal development. Other genetic variants have been identified as well (McKusick 1966, 1990, 1998; www.
ncbi.nim.nih.gov/omim;
www.marchofdimes.
com; www.acmg.net).
Additional amino acid conditions include
Maple Syrup Urine Disease (MSUD; Chromosome 7q3132 or 1p31; OMIM 248600), Hypermethioninemia (Chromosome 20cen-q13.1;
275
OMIM 613752), Homocystinuria (Chromosome 21q22.3; OMIM 236200), Oxoprolinuria

(Chromosome 20q11.2; OMIM 266130); and
Tyrosinemia Types I (Chromosome 15q23-q25;
OMIM 276700), II (Chromosome 16q22.1q22.3; OMIM 276600), and III (Chromosome
12q24-qter; OMIM 276710) (McKusick 1966,
1990, 1998; www.ncbi.nim.nih.gov/omim).
MSUD is a potentially lethal condition
that occurs in approximately one out of every
100,000 births, and most notably one of every
800 Mennonite births (McKusick 1966, 1990,
1998; www.ncbi.nim.nih.gov/omim). The aberrant gene encodes a faulty protein that normally
breaks down excessive amounts of the amino
acids leucine, valine, and isoleucine. Without detection and treatment during the first week of life,
these amino acids reach toxic levels, resulting in
seizures and death. The condition is characterized by burnt maple syrup smell to the infants
urine. A diet low in protein and particularly the
protein-building amino acids leucine, valine, and
isoleucine allows normal development (McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/
omim).
Hypermethioninemia involves failure to
breakdown the byproducts of methionine, resulting in elevated toxic levels of this amino acid.
Symptoms include heart problems, mental retardation, and abnormalities of the face, teeth,
and hair. Dietary restriction of methionine is the
recommended treatment (Labrune et al. 1990;
Baric et al. 2004; McKusick 1966, 1990, 1998;
www.ncbi.nim.nih.gov/omim). Homocystinuria
is very similar to hypermethioninemia, resulting
in elevated methionine leading to heart problems
and risks for strokes. Almost 50% of individuals die before the age of 25 even with dietary
treatments of pyridoxine (Vitamin B6) and a diet
low in methionine (McKusick 1966, 1990, 1998;
www.ncbi.nim.nih.gov/omim).
Oxoprolinuria
involves a mutation in the gene-encoding glutathione synthetase (OMIM 601002, 231900), an
important enzyme that produces glutathione from
the amino acids cysteine, glutamate, and glycine.
Without the critical oxidative protection of glutathione, many body tissues can be damaged from
waste products of metabolism, with brain damage
leading to mental retardation, seizures, anemia,
276
Fig. 14.1 Hypothetical,
simplified amino acid metabolic pathway has mediating
enzymes and the effect of
mutation on enzymes early and
late in the pathway is shown.
(See Stryer (1995) for a more
extensive discussion)
D. Hollar
Gene A
Amino
Acid A
Enzyme A
Gene B
Mutation in
Gene A
Stops B, C,
& D here
Amino
Acid B
Enzyme B
Gene C
Amino
Acid C
Mutation in
Gene C
Stops D
here
chronic metabolic acidosis, and death. Studies

(Ristoff etal. 2001) indicate that dietary vitamins
C and E may improve patients conditions.
Tyrosinemia involves a mutation impacting
metabolism of the amino acid tyrosine, with
symptoms including heart, intestinal, kidney,
liver, and pancreatic problems. Treatments involve diets low in the amino acids tyrosine, phenylalanine, and methionine, with the more severe
Type I often requiring a liver transplant (McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/
omim; www.marchofdimes.com).
Note that these mutations impact later in the
biochemical pathway for amino acid breakdown
than the mutation for phenylketonuria, hence the
accumulation of more toxic amino acids, both
phenylalanine and tyrosine. Much of amino acid
metabolism involves synthesis of some amino
acids or breakdown of excessive amounts of the
20 amino acids needed for protein production in
every cell of the body. Similar amino acids share
common metabolic pathways, where one amino
acid is broken down to form another amino acid
and a byproduct compound, etc. Often, a mutation located late in a metabolic pathway would
affect one or few compounds such as tyrosine,
which has severe but limited effects on the body.
A mutation located early in the metabolic pathway would affect more reactants downstream
Enzyme C
Amino
Acid D
from the mutation, which occurs in conditions

such as phenylketonuria with wider-ranging
physiological effects (Fig.14.1).
14.3.2Conditions of Nitrogen
Metabolism
While connected with amino acid metabolism,
the next six conditions revolve around one
critical physiological function, and they also
illustrate the sequential effects of mutations
upon metabolic pathways shown in Fig. 14.1.
The conditions are: (a) Carbamoyl Phosphate
Synthetase Deficiency (Chromosome 2q35;
OMIM 237300); (b) Hyperornithinemia (Chromosome 13q14; OMIM 238970); (c) Ornithine
Transcarbamylase Deficiency (Chromosome
Xp21.1; OMIM 311250); (d) Citrullinemia
(Chromosome 9q34.1; OMIM 215700); (e)
Arginosuccinic Lyase Deficiency (Chromosome
7cen-q11.2; OMIM 207900); and (f) Argininemia (Chromosome 6q23; OMIM 207800).
Together, these six genetic conditions impact the
seven subsequent biochemical reactions in the
nitrogen-cycling urea cycle (Fig. 14.2), which
occurs in liver cells to remove toxic levels of
nitrogen and ammonia waste products from the
body.
277
Ammonia
Water
Carbon Dioxide
1. Carbamoyl
Phosphate Synthetase
Carbamoyl Phosphate
Ornithine
2. Ornithine Transcarbamylase
Citrulline
Mitochondrial Inner Membrane
3,7. Mitochondrial
Ornithine Transporter
Ornithine
Urea
Citrulline
6. Arginase
Arginine
Excretion
Cellular Cytoplasm
Fumarate
Aspartate
Amino
Acids
4. Arginosuccinate
Synthetase
Arginosuccinate
5. Arginosuccinate
Lyase
Fig. 14.2 The simplified urea cycle with associated genetic/metabolic conditions associated with each of the
seven biochemical stages. Each enzyme (ovals) is associated with an amino acid metabolic condition. (See Stryer
(1995) and Roche/Swiss Institute (2011) for greater details on the specific metabolic pathways and connections
to other pathways)
Carbamoyl Phosphate Synthetase Deficiency

occurs in approximately one of every 500,000
births (Testai and Gorelick 2010). There is low
production of the enzyme carbamoyl phosphate
synthetase (OMIM 608307), which produces
carbamoyl phosphate from ammonia, carbon
dioxide, and water at the beginning of the urea
cycle (Fig.14.2). Symptoms can include respiratory alkalosis, vomiting, seizures, mental retardation, and death. Treatment involves dietary arginine (which is produced at a subsequent stage of
the urea cycle) plus sodium benzoate to sequester
excess nitrogen (Testai and Gorelick 2010; McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/
omim).
A mutation at the next urea cycle stage induces Ornithine Transcarbamylase Deficiency, a
mutation in the enzyme that combines carbamoyl

phosphate and ornithine to produce citrulline.
Since this mutation is X-linked, the condition
overwhelmingly affects males, although heterozygous females can be affected. Prevalence is
approximately one of every 80,000 births, symptoms are similar, and treatments include sodium
phenylacetate or sodium phenylbutyrate (Maestri
et al. 1991; Testai and Gorelick 2010; McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/
omim).
Hyperornithinemia, impacting the simultaneous stages 3 and 7 of the urea cycle (Fig.14.2),
disrupts the mitochondrial ornithine transporter
(OMIM 603861), a protein that moves ornithine
and citrulline in opposite directions across the
inner mitochondrial membrane, the mitochon-
278
drion being an energy organelle found in all cells

and that is essential for life. This movement of
ornithine enables further steps in the urea cycle
for removal of excess nitrogen from the body.
Symptoms are similar to the nitrogen metabolism
conditions described above, and treatment includes a diet of low protein with arginine supplements (Gjessing et al. 1986; Rodes et al. 1987;
Wong etal. 1989; McKusick 1966, 1990, 1998;
Within the mitochondrion, Citrullinemia
(Chromosome 9q34.1; OMIM 215700), Arginosuccinic Lyase Deficiency (Chromosome
7cen-q11.2; OMIM 207900), and Argininemia
(Chromosome 6q23; OMIM 207800) disrupt
stages 46 of the urea cycle (Fig.14.2), respectively. Citrullinemia and Arginiemia occur independently in approximately one of every 100,000
births. Arginosuccinic Lyase Deficiency occurs
in approximately one of every 150,000 births
(Testai and Gorelick 2010). Like the other urea
cycle conditions, treatment usually involves sodium benzoate to sequester nitrogen, and a lowprotein diet supplemented with arginine (Qureshi
etal. 1984).
The urea cycle (Fig.14.2) is central to the removal of excessive, toxic levels of nitrogen in
the body. Whereas our model shows a seven-step
cycle that repeats itself, thereby demonstrating
the overall effect of nitrogen input and nitrogencontaining urea output along with amino acid inputs (i.e., aspartate) and outputs (i.e., arginine),
the reactions occur continuously in proximity
along the inner mitochondrial membrane and cell
cytoplasm. Therefore, there are continuous, simultaneous reactions that utilize the products
of other reactions. The excreted urea from liver
cells enters the bloodstream and is removed from
the body via the primary excretory organs (i.e.,
kidneys and skin). CSHCN with nitrogen metabolic conditions can have productive lives with
frequent pediatric visits and proper nutrition.
14.3.3Fatty Acid Disorders

The fatty acid disorders further illustrate sequences of events in metabolic pathways and the strong
D. Hollar
interconnectedness between specific biochemical

reactions in the body with other metabolic events
impacting health and functioning. Mutations in
genes that encode enzymes that function in the
cyclic and noncyclic fatty acid metabolic chains
produce a variety of fatty acid conditions experienced by some CSHCN. Clinicians and researchers describe these conditions as short-, medium-,
long-, and very long-chain acyl- or hydroxyacyl-coenzyme A dehydrogenase deficiencies, the
names being based upon the structures of the
intermediary compounds that are deficient, or
in low amounts, based upon the lack of enzyme
from the gene mutation. The OMIM website
(www.ncbi.nim.nih.gov/omim) lists the following major varied-chain fatty acid conditions:
Short-Chain Acyl-Coenzyme A Dehydrogenase
Deficiency (SCADD; Chromosome 12q22-qter;
OMIM 606885); Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCADD;
Chromosome 1p31; OMIM 201450); Long-/
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (LCADD/VLCADD; Chromosome 17p13; OMIM 201475); Long-Chain
Hydroxy Acyl-Coenzyme A Dehydrogenase Deficiency (LCHAD; Chromosome 2p23; OMIM
609016); Short-Chain Hydroxy Acyl-Coenzyme
A Dehydrogenase Deficiency (SCHADD; Chromosome 4q22; OMIM 231530); Medium-Chain
3-Ketoacyl-Coenzyme A Thiolase (MCKAT) Deficiency (Chromosome 2p23; OMIM 602199,
143450); and Mitochondrial Trifunctional Protein Deficiency (Chromosome 2p23; OMIM
609015).
All of these fatty acid conditions relate to
the short- and medium-chain beta oxidation/
acyl-coenzyme A (abbreviated acyl-CoA) cyclic metabolic pathway (Fig. 14.3). Coenzyme
A (i.e., CoA) represents a multipurpose organic
molecule in the cell that primarily functions to
shuttle fatty acids across the inner mitochondrial
membrane for a variety of essential, cyclic metabolic pathways, including the energy-generating
Tri-Carboxylic Acid (i.e., TCA or Krebs Cycle),
short- and medium-chain beta oxidation, longchain beta oxidation, the Carnitine cycle, and
ketone synthesis (Stanley 2004; Stryer 1995;
Thorpe and Kim 1995).
279
Fig. 14.3 The simplified
beta oxidation/variedchain Acyl-Coenzyme A
metabolic pathway: another cyclic pathway with
all four metabolic stages
affected by mutations. (See
Stryer (1995) and Roche/
Swiss Institute (2011) for
expanded details)
Acyl-Coenzyme A
Enoyl-Coenzyme A
1. Acyl-CoA
Dehydrogenase
Cellular Cytoplasm
2. Enoyl-CoA
Hydratase
Mitochondrial Inner Membrane
Hydroxyacyl-Coenzyme A
Trifunctional
Protein
3. HydroxyacylCoA
Dehydrogenase
4. Beta
Ketothiolase
Ketoacyl-Coenzyme A
Acetyl-Coenzyme A
Energy
Generating
Pathways
The SCADD, MCADD, and LCADD/VLCADD occur in approximately one of every

15,000 births (Pollitt and Leonard 1998; Andresen et al. 2001; McKusick 1966, 1990, 1998;
www.ncbi.nim.nih.gov/omim), and they impact
the first stage (Fig. 14.3) of beta oxidation in
the mitochondrion. The affected enzyme is the
acyl-Coenzyme A deydrogenase that modifies
acyl-CoA into enoyl-CoA for the next reaction
stage (Thorpe and Kim 1995). Symptoms of this
deficiency include vomiting, muscle weakness,
seizures, fluid accumulation in the brain, metabolic acidosis, low blood glucose, and death.
Treatments include dietary glucose, L-carnitine,
and avoidance of fasting (Roe etal. 1986; Treem
etal. 1989).
Long-Chain Hydroxy Acyl-Coenzyme A Dehydrogenase Deficiency (LCHADD) occurs ap-
proximately once every 60,000 births (Ibdah

etal. 1999; McKusick 1966, 1990, 1998; www.
ncbi.nim.nih.gov/omim). The mutation impacts
the 3-hydroxyacyl-Coenzyme A enoyl-Coenzyme A hydratase (OMIM 600890) at stage 2
(Fig.14.3) that oxidizes hydroxyacyl-Coenzyme
A compounds and simultaneously reduces nicotinamide adenine dinucleotide (NAD) for electron transport energy production during fatty
acid metabolism. Symptoms include low blood
glucose levels, muscle weakness, heart myocardium deterioration, and possibly death. Treatments include no fasting, a high-carbohydrate
diet, and possibly a high-decanoate to octoanoate
diet (Jones etal. 2003).
Short-Chain Hydroxy Acyl-Coenzyme A
Dehydrogenase Deficiency (SCHADD), also
termed HADH Deficiency, has unknown preva-
280
lence. It impacts the enzyme (stage 3, Fig.14.3)

converting hydroxyacyl-Coenzyme A compounds to ketoacyl-Coenzyme A compounds
with the reduction of NAD for electron transport
energy production. Symptoms include low blood
glucose, heart and liver deterioration, seizures,
and possible infant death. Treatments include no
fasting, a high-carbohydrate diet, and sometimes
a liver transplant (McKusick 1966, 1990, 1998;
Medium-Chain 3-Ketoacyl-Coenzyme A Thiolase (MCKAT) Deficiency impacts the HADHB
gene (Das etal. 2006). Symptoms include metabolic acidosis, dehydration, vomiting, muscle
decay, and possibly death (Kamijo et al. 1997).
Treatments include no fasting and a carbohydrate
diet, although few patient case studies have been
available to ascertain best treatments.
Together, the multiple enzymes just described,
with the exception of stage 1 (Fig. 14.3) work
in tandem as a cluster called the Mitochondrial
Trifunctional Protein. Therefore, a mutation in a
gene encoding any of these enzymes often is also
referred to as Mitochondrial Trifunctional Protein Deficiency. Symptoms and treatments mirror
each of the LCHAD, SCHAD, and the MCKAT
conditions described above (Ibdah et al. 1999;
McKusick 1966, 1990, 1998; www.ncbi.nim.nih.
gov/omim).
As more of these fatty acid and organic acid
deficiencies discussed below are discovered,
there have been few patient cases to study, so
prevalences and treatments for many conditions
are uncertain until more research on actual cases
accumulate. The identification of these conditions
during newborn screening utilizes an advancing
technology called Tandem Mass Spectrometry,
which has exponentially increased the numbers
of conditions that can be identified at birth during
20002005 (Hollar et al. 2005). Because of the
intricate linkages between the various biochemical pathways, common treatments can yield successful health outcomes for CSHCN. Among
the treatments for fatty acid disorders is dietary
supplementation with carnitine, an amino acid
byproduct of lysine and methionine metabolism.
Carnitine works with acyl-coenzyme A to shuttle
fatty acids into and out of the mitochondrion.
D. Hollar
Carnitine is obtained from eating meat, hence its

usefulness in treating many fatty acid conditions,
but its metabolism is subject to several genetic/
metabolic conditions (Flanagan etal. 2010; Stanley 2004).
Carnitine Palmitoyl Transferase Deficiency,
Type I (Chromosome 11q13; OMIM 255120)
affects the CPT1 A gene that encodes carnitine
palmitoyl transferase IA, an enzyme that works
with other carnitine transport enzymes to move
long-chain fatty acids into the mitochondrion of
the cell for fatty acid beta oxidation. Symptoms
include low blood sugar, liver and heart abnormalities, seizures, diarrhea, and unconsciousness
(McKusick 1966, 1990, 1998; www.ncbi.nim.
nih.gov/omim). Treatments include glucose, triglycerides, and no fasting (Haworth etal. 1992).
In contrast, Carnitine Palmitoyl Transferase Deficiency, Type II (Chromosome 1p32;
OMIM 608836) alters a different part of the
same carnitine palmitoyl transferase enzyme, but
the outcomes for the CSHCN with this condition
are far more serious. Symptoms include microcephaly (i.e., reduced head size), facial deformities, heart problems, difficulty in breathing, liver
problems, kidney problems, and often is lethal
in the first few days following birth. No specific
treatments are suggested, and the mortality rate
is high (McKusick 1966, 1990, 1998; www.ncbi.
nim.nih.gov/omim).
Other carnitine conditions include Carnitine/
Acylcarnitine Translocase Deficiency (Chromosome 3p21.31; OMIM 212138) and Carnitine
Uptake Defect (Chromosome 5q31.1; OMIM
212140). The mutations affect different enzymes
that move long-chain fatty acids into the mitochondrion in exchange for carnitine. Uptake defect occurs in approximately one of every 40,000
births (Koizumi etal. 1999). Symptoms of both
conditions include heart problems, abnormal
heart rhythms, low blood pressure, seizures, liver
problems, and death (McKusick 1966, 1990,
1998; www.ncbi.nim.nih.gov/omim). Treatments
include a strict, lifelong diet that is low in fat
and high in carbohydrates while avoiding fasting
(Lamhonwah etal. 2002).
Finally, Glucose-6-Phosphate Dehydrogenase Deficiency (G6PDD; Chromosome Xq28;
OMIM 305900) is a prevalent condition that

takes on many mutational forms (i.e., polymorphisms). It is overwhelmingly more likely to affect male children than female children because
males have only one X chromosome and, therefore, will express recessive mutations if they are
present. It affects one out of every 15 males, and
it is more frequent in African, Mediterranean,
and Asian populations (Pinna etal. 2007; McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/
omim). The condition impacts the enzyme that
converts glucose-6-phosphate into 6-phosphogluconolactone in the pentose phosphate biochemical pathway, which in turn reduces NAD
for electron transport energy production in the
mitochondrion. Symptoms include jaundiced
skin, kidney stones, and anemia. Treatments
include a diet rich in iron, folic acid, and other
vitamins/minerals that promote red blood cell
production (McKusick 1966, 1990, 1998; www.
ncbi.nim.nih.gov/omim).
14.3.4Organic Acid Disorders

Organic acid disorders consist of mutations in
genes that affect both amino acid and other types
of metabolism while often creating acidemia, a
potentially serious blood condition that can damage many organs in the body. Acidemias include
Isovaleric Acidemia (Chromosome 15q1415;
OMIM 243500), Glutaric Acidemia (Chromosome 19p13.2; OMIM 231670), Methylmalonic
Acidemia (cblA type) (Chromosome 4q31.1
31.2; OMIM 251100), and Methylmalonic Acidemia (cblB type) (Chromosome 12q24; OMIM
251110).
Isovaleric Acidemia is caused by mutation in
the isovaleryl coenzyme A dehydrogenase gene
(OMIM 607036), which further breaks down
isovaleryl coenzyme A, a breakdown product of
the amino acid leucine. The condition occurs in
approximately one out of every 50,000 live births
and varies in level of severity (McKusick 1966,
1990, 1998; www.ncbi.nim.nih.gov/omim).
Symptoms include lack of appetite, vomiting,
low blood platelet levels needed for clotting,
lactic acidemia, neuromuscular irritability, and
281
lowered body temperature, often exacerbated by

infection. Sudden onset of symptoms in infants
can be fatal if not treated immediately. Treatments include a diet low in leucine and protein
but high in glycine and carnitine (Naglak et al.
1988).
Glutaric Acidemia (Chromosome 19p13.2;
OMIM 231670) is caused by a mutation in the
glutaryl-coenzyme A dehydrogenase gene, whose
enzyme product (OMIM 608801) converts glutaryl-coenzyme A to crotonyl-coenzyme A while
contributing to the breakdown of the amino acids
lysine and tryptophan. The condition occurs in
approximately one of every 100,000 births, and
it is prevalent among individuals of German descent (Zschocke etal. 2000). Symptoms include
metabolic acidosis, low blood sugar, an enlarged
head, and neural and liver abnormalities (McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/
omim). Treatment includes a diet high in carnitine and low in the amino acid lysine (Kolker
etal. 2007).
Methylmalonic Acidemia (cblA type) (Chromosome 4q31.131.2; OMIM 251100) and
Methylmalonic Acidemia (cblB type) (Chromosome 12q24; OMIM 251110) affect different
genes-encoding enzymes that move cobalamin
(Vitamin B12, or cbl) into the mitochondrion for
manufacture of adenosylcobalamin, a vitamin
B12 coenzyme that further assists other enzymes
in mitochondrial energy production metabolic
pathways. Symptoms include metabolic acidosis, dehydration, vomiting, anemia, seizures, low
blood platelet counts, and developmental delay
nih.gov/omim). Treatments include oral vitamin
B12 dietary administration to the infant (Ampola
etal. 1975).
Collectively, the acidemias represent conditions that vary blood homeostasis dangerously
below the human average 7.357.45 pH logarithmic range for hydrogen cation. Therefore,
acidemia or acidosis occurs when the blood pH
falls below 7.35. Two organs, the lungs and kidneys, help to control the pH level and to keep it
within the average 7.357.45 healthy range. During respiratory acidemia, poor breathing makes
the condition worse, allowing carbon dioxide to
282
increase in the bloodstream higher than its normal partial pressure of 3545mmHg; the kidneys
can compensate for this carbon dioxide-triggered
blood acid buildup by secreting bicarbonate into
the bloodstream (normal bicarbonate levels at
2226mEq/L) to counteract the acid. Conversely, during metabolic acidemia, the bodys metabolism is causing the elevated blood acidity such
that blood bicarbonate levels are low (i.e., below
2226mEq/L of blood); the lungs can compensate for this condition by increased breathing,
thereby increasing blood oxygen and decreasing
blood carbon dioxide (e.g., below the normal partial pressure of 3545mmHg). The organic acid
disorders contribute to metabolic or respiratory
acidosis by disrupting these and other (e.g., protein buffering) metabolic pathways that normally
maintain blood chemistry at stable levels (Naglak
etal. 1988; Marieb 2001).
Organic acid deficiency conditions include
Hydroxymethylglutaric Lyase Deficiency (Chromosome 1pter-p33; OMIM 246450), Isobutyryl
Coenzyme A Dehydrogenase Deficiency (Chromosome 11q25; OMIM 611283), 3-Methylcrotonyl Coenzyme A Carboxylase Deficiency
(Chromosomes 3q2527 and 5q1213; OMIM
210200 and 210210).
Hydroxymethylglutaric Lyase Deficiency mutates the gene-encoding hydroxymethylglutaric
lyase, which catabolizes the final stage of amino
acid leucine breakdown and the simultaneous
generation of ketone bodies. Symptoms include
metabolic acidosis, presence of organic acids in
urine, liver problems, low blood sugar, fever,
and coma. Treatments include a low-leucine diet
supplemented with glucose and carnitine (McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/
omim).
Isobutyryl Coenzyme A Dehydrogenase Deficiency affects the breakdown of the amino acid
valine. Symptoms include heart abnormalities
and developmental delay. Treatments include a
low-valine, low-protein diet with oral carnitine
supplements. Finally, 3-Methylcrotonyl Coenzyme A Carboxylase Deficiency affects one of
the subunits of the enzyme 3-methylcrotonyl
coenzyme A carboxylase, which requires the vitamin biotin and which helps to breakdown the
D. Hollar
amino acid leucine. Symptoms include metabolic or keto-acidosis, vomiting, seizures, loss
of hair, and possible mental retardation. A protein-restricted diet low in leucine and occasional
supplementation with carnitine are treatments
nih.gov/omim).
14.3.5Other Conditions
Hemoglobinopathies, which include SickleCell Disease (Chromosome 11p15.5; OMIM
603903) and Thalassemias (AlphaChromosome 16pter-p13.3; OMIM 141800; Beta
Chromosome 11p15.5; OMIM 141900), affect
hemoglobin, which transports oxygen in the
blood, reducing its capacity to transport needed oxygen to the cells and tissues of the body.
Sickle-cell disease occurs in approximately
one of every 400 births for persons of African
descent, and one of every 1,500 births overall
(www.marchofdimes.com). The various thallasemias occur in approximately one of every
250,000 births. Symptoms of hemoglobinopathies include coughing, anemia, abdominal and
joint pain, and septicemia leading to death. Treatments include fetal hemoglobin stimulators such
as hydroxycarbamide, decitabine, butyrate, folic
acid, penicillin, and blood transfusions, although
prognosis is poor (Trompeter and Roberts, 2008).
Ironically, heterozygotes exhibit resistance to
malaria (Gardner and Snustad 1984; Kaye 2006;
gov/omim; www.marchofdimes.com/peristats/
nbsdefinitions.aspx).
Congenital Hypothyroidism (Chromosome
2q12-q14; OMIM 218700) occurs roughly once
every 4,000 births. It prevents production of transcription factors necessary for cellular differentiation of early embryonic endoderm cells to form
thyroid gland follicular cells needed to produce
the growth hormone thyroxine. The thyroid gland
is poorly developed or absent, resulting in slowed
growth, fatigue, and dry skin. Treatments include
lifelong administrations of oral thyroxine (Kaye
2006; McKusick 1966, 1990, 1998; www.ncbi.
nim.nih.gov/omim).
Galactosemia (Chromosome 9p13; OMIM

230400) is a recessive autosomal mutation in
the GALT gene-encoding galactose-1-phosphate
uridylyltransferase, an enzyme that converts the
sugar galactose into the usable body energy sugar
glucose by transferring uridine monophosphate.
The condition occurs approximately once every
50,000 births and must be detected and treated
within 2 days of birth. Nontreatment of severe,
or classical galactosemia (where both GALT alleles are mutated), can be fatal due to pediatric
hyperammonemia or Escherichia coli bacterial
septic shock, whereas milder forms might cause
jaundice or liver damage. Lifelong treatment involves a reduced lactose-galactose diet (Kaye
2006; McKusick 1966, 1990, 1998; www.ncbi.
nim.nih.gov/omim;
www.marchofdimes.com/
peristats/nbsdefinitions.aspx).
Biotinidase Deficiency (Chromosome 3p25;
OMIM 253260) occurs in approximately one
of every 75,000 births. Its primary manifestation
is poor recycling of the B vitamin biotin, an essential cofactor that helps carboxylase enzymes
to breakdown the energy storage molecule adenosine triphosphate (ATP) for cellular processes.
Symptoms include seizures, sensorineural deafness, optic nerve decay, skin and hair problems,
and/or developmental delay (Kaye 2006). Treatment includes dietary biotin supplements that
enable normal, lifelong functioning (Kaye 2006;
gov/omim; www.marchofdimes.com/peristats/
nbsdefinitions.aspx).
Congenital Adrenal Hyperplasia (Chromosome 6p21.3; OMIM 201910) is a mutation in
the gene-encoding enzymes that synthesize cortisol. The condition causes the pituitary gland to
overproduce adrenocorticotropic hormone and
the gonads to overproduce male sex hormones.
Symptoms include masculinization of females,
testicular tumors in males, high blood pressure,
low blood sugar, accelerated growth, and fever.
Treatments include oral dexamethasone to inhibit the adrenal cortex activity (Forest etal. 1989;
Kaye 2006; McKusick 1966, 1990, 1998; www.
ncbi.nim.nih.gov/omim).
Cystic Fibrosis (Chromosome 7q31.2,
19q13.1; OMIM 219700) is a very serious
283
condition where the infant has levels of sodium chloride in exocrine (i.e., ducted) glands,
disruptions in fluid balance for exocrine and
sweat glands, pancreatic ducts, autoimmune
inflammation, and meconium ileus (i.e., bowel
obstruction) such that bodily secretions are
thick, often obstructing normal organ functioning (e.g., lungs, pancreas, intestines) throughout
the body, further complicated with opportunistic
bacterial infections (e.g., Pseudomonas species;
Egan et al. 1995). The CF mutation affects a
gene encoding a transport protein that normally
moves fluid and sodium chloride across cell
membranes. CF occurs in approximately one of
every 4,000 births, although the incidence varies
across different populations, with higher prevalence among Caucasians (McKusick 1966, 1990,
1998; www.ncbi.nim.nih.gov/omim). Improvements in treatments have included ameloride,
uridine triphosphate, deoxyribonuclease, and
lung transplants (Egan et al. 1995; Yankaskas
etal. 1998).
Consequently, lifespans for children with CF
have advanced from the teenage years to 40+
years, with projections on survival for children
with CF born in the 1990s reaching 50 years
(Tuchman et al. 2010). Like children with CF,
CSHCN with genetic or metabolic conditions
are surviving to adulthood in greater numbers, so
health care providers are now beginning to focus
attention on transitions to adult health care, including attention to heightened risks for secondary conditions (e.g., diabetes, obesity, etc.) that
are associated with certain disabilities (Crowley
etal. 2011; Rimmer etal. 2010).
Finally, a fatal condition that is not screened
in newborns is one that should give us a sobering perspective on the extent of mutation, disability, nutritional treatments, and being human.
Hypoascorbemia (Chromosome 8p21.1; OMIM
240400), also called scurvy, is an autosomal recessive lethal condition that affects all humans,
who cannot synthesize the enzyme L-gulonolactone oxidase, which converts L-gulonolactone to
ascorbic acid (Vitamin C). Lethality is averted
by lifelong dietary supplements of Vitamin C via
consumption of fruits and green leafy vegetables.
Therefore, everybody has this genetic condition
284
and survives with proper nutrition (Nishikimi

and Yagi 1991).
14.4The Medical Home/Family

Physician and Electronic Health
Information
The results of a newborn infants newborn
screening test will yield a presumptive positive
or negative for a given condition. If the infant is
presumptive positive for a condition, it does not
necessarily mean that the infant has the condition. Instead, the diagnostic laboratory must rapidly report the presumptive positive result to the
infants pediatrician and to a licensed genetic pediatrician for immediate, more in-depth followup testing to verify or refute the presumptive
positive diagnosis. Regardless of the presumptive positive result, the infant should receive immediate treatment for safety until the initial diagnosis is confirmed or refuted. Such approaches
are especially critical for conditions with immediate serious effects (e.g., classical galactosemia,
phenylketonuria).
By 2011, most American states were consistent in the genetic or metabolic conditions
screened during newborn screening. However,
other nations and provinces within nations continue to vary in the conditions screened. Nevertheless, even in the United States, certain conditions such as Krabbe syndrome are not screened
if approved treatments have not been developed
(Gupta 2011). Such situations will continue to
occur, often with controversy and inevitable, unfortunate tragic results for some infants, as public health genetic research continues to expand
the numbers and types of conditions that can be
screened. Still, the public health system should
attempt to screen for as many genetic and metabolic conditions as possible in hopes of treatments being developed and to provide families
with maximum options for their children receiving the best health care (Gupta 2011).
The general public favors responsible use of
genetic technology to improve public health,
but they want appropriate testing that respects
privacy and does not result in stigmatization or
other negative impacts such as loss of employ-
D. Hollar
ment or insurance coverage (Genetics & Public

Policy Center 2005). National efforts to increase
the use of electronic health records by health care
providers, insurers, and families are testing these
issues to develop systems where families control
their health records, although the finalization
of these efforts is uncertain at present (Johnson
2001; Hollar 2009).
14.5Nutrition and Genetics

Many of the genetic and metabolic conditions described above impact some aspect of a biochemical pathway that involves a compound (e.g.,
amino acid, vitamin) obtained in foods. Consequently, treatments for conditions might require
dietary supplementation of certain compounds
and/or restriction of certain other compounds
from the diet. Because the genetic conditions affect every cell in the body for all of human development, the dietary treatments almost always will
be lifelong. Therefore, families of CSHCN with
genetic or metabolic conditions must be aware of
continuous proper care with a health care provider medical home that constantly provides them
with appropriate supports and reminders of the
importance of dietary treatments and continuous
monitoring.
The nutritionist is a central figure in the health
care team for the treatment of genetic and metabolic conditions. The nutritionist appraises the
family of the proper diet and the need for regular
physician checkups. The nutritionist can assess
CSHCN growth patterns and make recommendations for changes in the dietary supplements
or restrictions that are necessary for the child to
maintain normal development. Family adherence
to the infant/child dietary regime is critical for
healthy development so that the child can be successful and independent throughout life.
14.6Genetic Counseling
Accompanying the nutritionist on the CSHCN
health care team is the genetic counselor, who
can discuss overall treatment and scheduling for
health evaluations/checkups as well as to encour-
age genetic testing of the parents, siblings, and

other family members. The genetic counselor
is most valuable in prenatal assessments of the
probabilities that parents with genetic predispositions might give birth to a CSHCN having a
genetic or metabolic condition. The field of genetic testing is growing, although participation is
voluntary. The potential for widespread genetic
screening can help families to understand their
own lifespan health conditions and possibilities
for certain conditions (e.g., breast cancer) to arise
given the prevalence of specific genotypes and
phenotypes in the family history. At the same
time, the obvious health care potential of increased genetic testing is tempered by patient and
family concerns for privacy and nondiscrimination as a result of positive genetic tests (Genetics
& Public Policy Center 2005).
Genetic counselors are highly trained and are
certified by national testing. They work closely
with the family medical home health providers
to assist families with a variety of genetic evaluation services, including preconception planning
as well as individual evaluations of risk. Genetic
counselors usually are affiliated with state public health departments and with major, comprehensive medical centers. Families of CSHCN
should consult their state health department for
directories of genetic counselors or consult their
family pediatrician and/or physicians for further
information.
14.7A Proper View of Human

Variation and Respect for
CSHCN
Given the vast array of genetic and metabolic conditions that continue to expand as new discoveries are made and as new diagnostic technologies
(e.g., Tandem Mass Spectrometry) develop, it is
likely that more CSHCN with these conditions
will be identified. In addition, the human genome
contains over 30,000 functional protein-encoding genes plus potentially millions of alternative
gene regulatory mechanisms (e.g., noncoding
DNA, transposable elements, silent regulatory
RNA molecules, alternative RNA splicing, etc.)
285
such that every person will be unique along with

potential genetic conditions that could strike at
any time in the entire lifespan. Consequently, the
field of genomics will continue to expand, and
research on the treatment of genetic conditions
promises to open new insights into the improvement of lifelong human health. With this realization that every person is mutant for at least a few
genes, the ramifications for health insurance and
stigmatization loom large (Carmichael 2011; Genetics & Public Policy Center 2005; Lewis etal.
2011; Nature 2011; Tarini etal. 2010). Therefore,
genetic policy makers will need to emphasize
the fact of genetic and environmental variation
in the etiology of virtually every human condition. CSHCN are unique and should be provided
every health benefit to optimize their success in
life because ultimately, every person will have
some genetic and/or environmentally induced
disability that goes beyond personal responsibility or conduct.
References
Ampola, M. G., Mahoney, M. J., Nakamura, E., & Tanaka,
K. (1975). Prenatal therapy of a patient with vitaminB12 responsive methylmalonic acidemia. The New
England Journal of Medicine, 293, 313317.
Andresen, B. S., Dobrowolski, S. F., OReilly, L., Muenzer, J., McCandless, S. E., Frazier, D. M., Udvari, S.,
Bross, P., Knudsen, I., Banas, R., Chace, D. H., Engel,
P., Naylor, E. W., & Gregersen, N. (2001). Mediumchain acyl-CoA dehydrogenase (MCAD) mutations
identified by MS/MS-based prospective screening
of newborns differ from those observed in patients
with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in
mild MCAD deficiency. American Journal of Human
Genetics, 68(6), 14081418.
Baric, I., Fumic, K., Glenn, B., Cuk, M., Schulze, A.,
Finkelstein, J. D., James, S. J., Mejaski-Bosnjak, V.,
Pazanin, L., Pogribny, I. P., Rados, M., Sarnavka, V.,
Scukanec-Spoljar, M., Allen, R. H., Stabler, S., Uzelac,
L., Vugrek, O., Wagner, C., Zeisel, S., & Mudd, S. H.
(2004). S-adenosylhomocysteine hydrolase deficiency
in a human: A genetic disorder of methionine metabolism. Proceedings of the National Academy of Sciences USA, 101(12), 42344239.
Carmichael, M. (2011). Newborn screening: A spot of
trouble. Nature, 475, 156158.
Crowley, R., Wolfe, I., Lock, K., & McKee, M. (2011).
Improving the transition between paediatric and adult
286
healthcare: A systematic review. Archives of Disease
in Childhood, 96, 548553.
Das, A. M., Illsinger, S., Lucke, T., Hartmann, H., Ruiter,
J. P. N., Steuerwald, U., Waterham, H. R., Duran, M.,
& Wanders, R. J. A. (2006). Isolated mitochondrial
long-chain ketoacyl-CoA thiolase deficiency resulting
from mutations in the HADHB gene. Clinical Chemistry, 52(3), 530534.
Egan, T. M., Detterbeck, F. C., Mill, M. R., Paradowski,
L. J., Lackner, R. P., Ogden, W. D., Yankaskas, J.
R., Westerman, J. H., Thompson, J. T., Weiner, M.
A., Cairns, E. L., & Wilcox, B. R. (1995). Improved
results of lung transplantation for patients with cystic
fibrosis. The Journal of Cardiovascular Surgery, 109,
224235.
Flanagan, J. L., Simmons, P. A., Vehige, J., Willcox, M. D.
P., & Garrett, Q. (2010). Role of carnitine in disease.
Nutrition & Metabolism, 7, 30.
Forest, M. G., Betuel, H., & David, M. (1989). Prenatal
treatment in congenital adrenal hyperplasia due to
21-hydroxylase deficiency: Up-date 88 of the French
multicentric study. Endocrine Research, 15(12),
277301.
Fraga, M. F., Ballestar, E., Paz, M. F., Ropero, S., Setien,
F., Ballestar, M. L., Heine-Suner, D., Cigudosa, J. C.,
Urioste, M., Benitez, J., Boix-Chornet, M., SanchezAguilera, A., Ling, C., Carlsson, E., Poulsen, P., Vaag,
A., Stephan, Z., Spector, T. D., Wu, Y.-Z., Plass, C., &
Esteller, M. (2005). Epigenetic differences arise during the lifetime of monozygotic twins. Proceedings
of the National Academy of Sciences USA, 102(30),
1060410609.
Gardner, E. J., & Snustad, D. P. (1984). Principles of
genetics (7th ed.). New York: Wiley.
Genetics & Public Policy Center. (2005). Public awareness and attitudes about reproductive genetic technology. Washington: Genetics & Public Policy Center,
Johns Hopkins University.
Gjessing, L. R., Lunde, H. A., Undrum, T., Broch, H.,
Alme, A., & Lie, S.O. (1986). A new patient with
hyperornithinaemia, hyperammonaemia and homocitrullinuria treated early with low protein diet. Journal
of Inherited Metabolic Disease, 9(2), 186192.
Gupta, S. (2011). Ethical debate over fatal disease for
newborns. www.cbsnews.com. Accessed 17 June
2011 (Published 16 June 2001).
Haworth, J. C., Demaugre, F., Booth, F. A., Dilling, L. A.,
Moroz, S. P., Seshia, S. S., Seargeant, L. E., & Coates,
P. M. (1992). Atypical features of the hepatic form of
carnitine palmitoyltransferase deficiency in a Hutterite family. Journal of Pediatrics, 121(4), 553557.
Hollar D. (2009). Progress along developmental tracks for
electronic health records implementation in the United
States. Health Research Policy and Systems, 7, 3.
Hollar, D. W., Lozzio, C., Eubanks, R. L., & Evans, M.
(2005). The key elements in partnership and infrastructure development for electronic child health profiles: A description of two parallel, complementary
projects. The 133rd American public health association annual meeting, Philadelphia, 914 Dec 2005.
D. Hollar
Ibdah, J. A., Bennett, M. J., Rinaldo, P., Zhao, Y., Gkibson, B., Sims, H. F., & Strauss, A. W. (1999). A fetal
fatty-acid oxidation disorder as a cause of liver disease in pregnant women. The New England Journal of
Medicine, 340, 17231731.
Johnson, K. B. (2001). Barriers that impede the adoption
of pediatric information technology. Archives of Pediatrics & Adolescent Medicine, 155, 13741379.
Jones, P. M., Butt, Y., & Bennett, M. J. (2003). Accumulation of 3-hydroxy-fatty acids in the culture medium
of long-chain L-3-hydroxyacyl CoA dehydrogenase
(LCHAD) and mitochondrial trifunctional proteindeficient skin fibroblasts: Implications for medium
chain triglyceride dietary treatment of LCHAD deficiency. Pediatric Research, 53, 783787.
Kamijo, T., Indo, Y., Souri, M., Aoyama, T., Hara, T.,
Yamamoto, S., Ushikubo, S., Rinaldo, P., Matsuda,
I., Komiyama, A., & Hashimoto, T. (1997). Medium
chain 3-ketoacyl-coenzyme A thiolase deficiency: A
new disorder of mitochondrial fatty acid beta-oxidation. Pediatric Research, 42(5), 569576.
Kaye, C.I., & Committee on Genetics. (2006). Newborn
screening fact sheets. Pediatrics, 118, 934963.
Koizumi, A., Nozaki, J., Ohura, T., Kayo, T., Wada, Y.,
Nezu, J., Ohashi, R., Tamai, I., Shoji, Y., Takada, G.,
Kibira, S., Matsuishi, T., & Tsuji, A. (1999). Genetic
epidemiology of the carnitine transporter OCTN2
gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic
carnitine deficiency. Human Molecular Genetics, 8,
22472254.
Kolker, S., Christensen, E., Leonard, J. V., Greenberg, C.
R., Burlina, A. B., Burlina, A. P., Dixon, M., Duran,
M., Goodman, S. I., Koeller, D. M., Muller, E., Naughten, E. R., Neumaier-Probst, E., Okun, J. G., Kyllerman, M., Surtees, R. A., Wilcken, B., Hoffmann, G.
F., & Burgard, P. (2007). Guideline for the diagnosis
and management of gultaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). Journal of Inherited
Metabolic Disease, 30(1), 522.
Labrune, P., Perignon, J. L., Rault, M., Brunet, C., Lutun,
H., Charpentier, C., Saudubray, J. M., & Odievre,
M. (1990). Familial hypermethioninemia partially
responsive to dietary restriction. Journal of Pediatrics,
117(2, Pt.1), 220226.
Lamhonwah, A. M., Olpin, S. E., Pollitt, R. J., VianeySaban, C., Divry, P., Guffon, N., Besley, G. T.,
Onizuka, R., de Meirleir, L. J., Cvitanovic-Sojat,
L., Baric, I., Dionisi-Vici, C., Fumic, K., Maradin,
M., & Tein, I. (2002). Novel OCTN2 mutations: No
genotype-phenotype correlations: Early carnitine
therapy prevents cardiomyopathy. American Journal
of Human Genetics, 111(3), 271284.
Lewis, M. H., Goldenberg, A., Anderson, R., Rothwell,
E., & Botkin, J. (2011). State laws regarding the retention and use of residual newborn screening blood samples. Pediatrics, 127(4), 703712.
Maestri, N. E., Hauser, E. R., Bartholomew, D., &
Brusilow, S. W. (1991). Prospective treatment of
urea cycle disorders. Journal of Pediatrics, 119(6),
923928.
Marieb, E. N. (2001). Human anatomy & physiology (5th
ed.). San Francisco: Benjamin Cummings.
McKusick, V. A. (1966). Mendelian inheritance in man:
Catalogs of autsomal dominant, autosomal recessive,
and X-linked phenotypes, (1st ed.). Baltimore: Johns
Hopkins University Press.
and X-linked phenotypes, (9th ed.). Baltimore: Johns
and X-linked phenotypes (12th ed.). Baltimore: Johns
Naglak, M., Salvo, R., Madsen, K., Dembure, P., & Elsas,
L. (1988). The treatment of isovaleric acidemia with
glycine supplement. Pediatric Research, 24(1), 913.
Nature. (2011). Editorial: There will be blood. Nature,
475, 139.
Nishikimi, M., & Yagi, K. (1991). Molecular basis for the
deficiency in humans of gulonolactone oxidase, a key
enzyme for ascorbic acid biosynthesis. The American
Journal of Clinical Nutrition, 54, 1203S1208S.
Pearson, H. (2002). Immunitys pregnant pause. Nature,
420, 265266.
Pembrey, M. E., Bygren, L. O., Kaati, G., Edvinsson, S.,
Northstone, K., Sjostrom, M., Golding, J., & ALSPAC
Study Team. (2006). Sex-specific, male-line transgenerational responses in humans. European Journal of
Human Genetics, 14, 159166.
Pinna, A., Carru, C., Solinas, G., Zinellu, A., & Carta,
F. (2007). Glucose-6-phosphate dehydrogenase deficiency in retinal vein occlusion. Investigative Ophthalmology & Visual Science, 48(6), 27472752.
Pollitt, R. J., & Leonard, J. V. (1998). Prospective surveillance study of medium-chain acyl-CoA dehydrogenase deficiency in the UK. Archives of Dermatological
Research, 79(2), 116119.
Qureshi, I. A., Letarte, J., Quellet, R., Batshaw, M. L., &
Brusilow, S. (1984). Treatment of hyperargininemia
with sodium benzoate and arginine-restricted diet.
Journal of Pediatrics, 104(3), 473476.
Rimmer, J. H., Yamaki, K., Davis Lowry, B. M., Wang,
E., & Vogel, L. C. (2010). Obesity and obesity-related
secondary conditions in adolescents with intellectual/
developmental disabilities. Journal of Intellectual
Disability Research, 54(9), 787794.
Ristoff, E., Mayatepek, E., & Larsson, A. (2001). Longterm clinical outcome in patients with glutathione
synthetase deficiency. Journal of Pediatrics, 139(1),
7984.
Roche/Swiss Institute. (2011). ExPASy bioinformatics
resource portal, biochemical pathway maps. Geneva:
Swiss Institute of Bioinformatics. http://web.expasy.
org/pathways. Accessed 8 Aug 2011.
Rodes, M., Ribes, A., Pineda, M., Alvarez, L., Fabregas,
I., Fernandez Alvarez, E., Coude, F. X., & Grimber,
287
G. (1987). A new family affected by the syndrome of

hyperornithinaemia, hyperammonaemia and homocitrullinuria. Journal of Inherited Metabolic Disease,
10(1), 7381.
Roe, C. R., Millington, D. S., Maltby, D. A., & Kinnebrew, P. (1986). Recognition of medium-chain acylCoA dehydrogenase deficiency in asymptomatic
siblings of children dying of sudden infant death or
Reye-like syndromes. Journal of Pediatrics, 108(1),
1318.
Stanley, C. A. (2004). Carnitine deficiency disorders in
children. Annals of the New York Academy of Sciences, 1033, 4251.
Stryer, L. (1995). Biochemistry (4th ed.). New York:
Freeman.
Symonds, M. E. (2010). EpigenomicsGrand challenge:
Much more than the developmental origins of adult
health and disease. Front Genetics, 1, 12.
Tarini, B. A., Goldenberg, A., Singer, D., Clark, S. J.,
Butchart, A., & Davis, M. M. (2010). Not without my
permission: Parents willingness to permit use of newborn screening samples for research. Public Health
Genomics, 13(3), 125130.
Testai, F. D., & Gorelick, P. B. (2010). Inherited metabolic
disorders and stroke part 2: Homocystinuria, organic
acidurias, and urea cycle disorders. Archives of Neurology, 67(2), 148153.
Thorpe, C., & Kim, J.-J. P. (1995). Structure and mechanism of action of the Acyl-CoA dehydrogenases.
FASEB Journal, 9, 718725.
Treem, W. R., Stanley, C. A., & Goodman, S. I. (1989).
Medium-chain acyl-CoA dehydrogenase deficiency:
Metabolic effects and therapeutic efficacy of longterm L-carnitine supplementation. Journal of Inherited Metabolic Disease, 12, 112119.
Trompeter, S., & Roberts, I. (2008). Haemoglobin F modulation in childhood sickle cell disease. British Journal of Haematology, 144(3), 308316.
Tuchman, L. K., Schwartz, L. A., Sawicki, G. S., & Britto,
M. T. (2010). Cystic fibrosis and transition to adult
medical care. Pediatrics, 125, 566573.
Williams, R. J. (1956). Biochemical individuality. New
York: Wiley.
Wolpert, L., Tickle, C., Lawrence, P., Meyerowitz, E.,
Robertson, E., Smith, J., & Jessell, T. (2011). Principles of development (4th ed.). New York: Oxford
University Press.
Wong, P., Lessick, M., Kang, S., & Nelson, M. (1989).
Maternal
hyperornithinemia-hyperammonemiahomocitrullinuria (HHH) syndrome. American Journal of Human Genetics, 45(Suppl.), A14.
Yankaskas, J. R., & Mallory, G. B., Consensus Committee. (1998). Lung transplantation in cystic fibrosis:
Consensus conference statement. Chest, 113, 217226.
Zschocke, J., Quak, E., Guldberg, P., & Hoffmann, G. F.
(2000). Mutation analysis in glutaric aciduria type I.
Development from Conception

through Adolescence:
Physiological and Psychosocial
Factors Impacting Children with
Special Health Care Needs
15
David Hollar
Abstract
Human development for children with special health care needs (CSHCN)
can be approached from purely psychological/psychosocial or physiological perspectives. Nevertheless, both of these developmental perspectives
are rooted in the combined genetic, epigenetic, and environmental factors
that uniquely shape each individual. With advances in genomics, we are
finding that every person experiences disability and special needs, whether major or minor in extent, and that childhood and adolescent physiology
and behaviors derive from events in utero and even earlier in the individuals ancestry. Therefore, we start with theories of psychosocial development, mostly nonbiological in scope, then trace back to physical development from conception to birth, and conclude with a summary of birth
defects, that is, conditions monitored by public health systems and that
arise from genetic, cell division, or environmental exposures in utero that
impact later physical and psychosocial development. The ultimate goals
are to illustrate Wilsons consilience concept as applied to human development as well as contextual, biopsychosocial approaches (e.g., the International Classification of Functioning, Disability and Health) towards improving CSHCN life outcomes from social and community perspectives.
Abbreviations
CDC Centers for Disease Control and Prevention

CSHCN Children with Special Health Care Needs
DNA Deoxyribonucleic Acid
DSM-IV Diagnostic and Statistical Manual of Mental Disorders, Fourth
Edition
ICF International Classification of Functioning, Disability and
Health
D. Hollar ()
University of North Carolina at Chapel Hill, CB 7530,
Chapel Hill, NC 27599, USA
e-mail: David_Hollar@med.unc.edu,
289
290
NBDPN National Birth Defects Prevention Network

NCBDDD National Center for Birth Defects and Developmental Disabilities
NORD National Organization for Rare
Disorders
OMIM Online Mendelian Inheritance
in Man
RNA Ribonucleic Acid
15.1Introduction
Traditionally, teaching and research involving
the critical events of lifelong development have
followed separate mind and body pathways despite the fact these processes are one (Wilson
1998). As separate disciplines, educators and
psychologists typically emphasize the psychosocial path, whereas anatomists, clinicians, and
health care providers follow the more structural,
physiological pathway. Neither group achieves
full understanding of the multivariate factors
that continuously impact human development,
even though many events occurring at critical
transition stages, some being predominantly biologically defined, others being mostly socially
or environmentally influenced. Consequently,
researchers and policy makers on children with
special health care needs (CSHCN) are increasingly using biopsychosocial models such as
the International Classification of Functioning,
Disability, and Health (ICF; Depoy and Gilson
2004; Simeonsson and Boyles 2001). Furthermore, a growing body of research demonstrates
strong neurological, genetic, epigenetic, social,
environmental, and physiological intercorrelations during human development (Gluckman
etal. 2009; Pembrey etal. 2006; Symonds 2010;
Wilson 1998; Wolpert etal. 2011). Therefore, the
primary objective of this chapter is to outline and
integrate major theories and objective physical
conditions as related to critical stages in physical
and psychosocial development for children with
special health care needs.
D. Hollar
15.2Theories of Developmental
Psychology
15.2.1Psychosocial Cognitive
Development
Major theories of psychosocial development for
CSHCN include various models of cognitive development (Miller 1993; Newman and Newman
1991). Theories include Jean Piagets cognitive
change theory, which describes four principal
stages (Piaget 1954; Haber 1997; Miller 1993):
1. Sensorimotor stage, during which the child
develops (approximately birth through age
12 years) an understanding of the relationship between self, others, and the environment
via exploration using the senses.
2. Preoperational stage, during which the child
develops (approximately age 27 years) mental concepts, relates symbols to real objects,
engages in play, and rapidly acquires and uses
language with an expanding vocabulary.
3. Concrete operations stage, during which
the child develops (approximately age 712
years) higher-level cognitive functions, including abstract thinking and mathematical
operations.
4. Formal operations stage, during which the
child develops (approximately age 12 years
into early adulthood) further higher level of
cognitive and reasoning functions.
Piagets cognitive processing theory treats
child psychological development as an active,
participatory process that provides feedback for
the child to establish self-regulation. The theory
is general and outlines a rough sketch of cognitive development that has been followed by other
psychologists.
Sigmund Freud proposed a psychosexual development theory that paralleled Piagets temporal sequence of stages but that was focused upon
sensation, muscular control, sexual identification,
repression, and exploration (Haber 1997; Miller
1993). One of Freuds students, Erik Erikson, diverged from this direction with a psychoanalytic,
eight-stage theory that emphasized childhoodadolescence but that compassed the entire lifespan (Erikson 1997). Eriksons approach centered
15 Development from Conception through Adolescence: Physiological
about crises confronting the self (e.g., intimacy

versus isolation) that the individual resolves in
various manners as they mature. Whereas Erikson expanded Freuds views of individual psychological development as being dependent upon
conflicting feelings, repressed energy, and crises,
he placed more emphases upon social interactions and less upon psychosexual feelings.
Freuds psychoanalytic theory has been mostly rejected by modern child psychology researchers, who instead have embraced theories that rely
more strongly on social interaction and learning experiences (Miller 1993). Albert Banduras
social learning theory reinforces many of these
social-environmental concepts that are a forerunner of the new biopsychosocial models for studying and helping CSHCN. Like Freud, Bandura
recognized human drives such as aggression,
but along the same lines as Erikson and Piaget,
he proposed four self-regulatory processes that
promote CSHCN cognitive development: (a)
attention processes, (b) retention processes, (c)
production processes, and (d) motivational processes (Bandura 1977; Miller 1993). While not
staged, Banduras theory has applications to lifelong development and learning.
15.2.2Moral Development and

Maturing
Piaget and Erikson both address topics related to
rule-based behaviors in child development, and
several theorists have further developed these
ideas further along maturational stages. Lawrence Kohlberg proposed a three-stage theory,
with substages, that address individual acquisition and acceptance of social rules and respect for
authority (Kohlberg 1973; Haber 1997):
1. Premoral Stage
a. Obedience and Punishment Orientation,
where the child learns to recognize incorrect behaviors and the consequences
thereof.
b. Instrumental Relativist Orientation, where
the child mentally establishes differences
between right and wrong.
291
2. Conventional Morality Stage

a. Interpersonal Concordance Orientation,
where the child recognizes others and
develops positive social relationships with
them.
b. Orientation toward Authority, where the
child recognizes authority figures, laws,
and personal duties to society.
3. Principled Moral Reasoning Stage
a. Social Contract Orientation, where the
child reaching adulthood firmly embraces
the social contract in all interpersonal
interactions.
b. Universal Ethical Principles Orientation, where the child reaching adulthood
has developed an overall philosophy that
applies respect toward people and social
systems in general.
Kohlbergs (1973) posits that children progress through these stages, premoral to principled,
at various but fairly systematic rates as they
mature, learn, and interact with parents, family,
peers, and other children in school and various
social situations. One of Kohlbergs followers,
Carol Gilligan, used a strongly feminist approach
to study moral development. Gilligan (1982) developed an approach that emphasized differential
expression of empathy between female and male
children, with girls developing stronger moral
and empathetic attitudes toward interpersonal relationships earlier and growth of these capacities
in all children during adolescence.
In a similar sense, Gibson (1991) combined
several of these ideas to promote a perceptual
development theory (Miller 1993) in which children develop spatiotemporal cognitive schemes
and models of reality based upon their active
interactions with people, objects, and events
in their contact environment. Gibsons (1991)
theory is not staged, although she argues that
perception does develop during growth and that
learning relies strongly on stimulation and active
learning. Similarly, Lev Vygotsky (1978) proposed a widely adopted contextualist theory that
children behave and learn through social contexts, cultural contexts, language, and tool use.
Vygotskys theory again strongly illustrates the
importance of social-environmental interactions
292
and progressive, individualized developmental

pace (Miller 1993).
In contrast, behavioral theorists such as B.F.
Skinner and sociobiologists/evolutionary psychologists such as Edward O. Wilson argue that
it is the interplay of genetic predispositions and
environmental interactions that define individual
development. Whereas behaviorists and information processing theorists such as Atkinson and
Shiffrin (1969) used a computer/artificial intelligence model to explain how the childs mind
develops, senses, remodels, and adopts sociocultural knowledge and beliefs, a growing body of
research (Diamond and Amso 2008) supports this
mechanistic development of the brain as well as
Wilsons (1975, 1998) correct premise that genes
and environment both strongly and interconnectedly contribute to cognitive development while
addressing the premolecular biological theories
of development (e.g., Piaget, Erikson, etc. above)
that focused on environmental interactions.
For late adolescent and adult development,
several theorists besides Kohlberg outlined stage
and semistage theories for cognitive and social
development among college students on into
adulthood. Heath (1968) stressed a strongly environmental college student development model
in which students matured by developing strong
interpersonal relationships and strengthened their
academic and personal self-concepts (Evans etal.
2009). Perrys (1970) theory of ethical development during college years described a nine-stage
process during which late adolescents/young
adults learn to integrate knowledge with the
goal of making logical decisions, including assessment of alternatives and bearing responsibility for decision outcomes. Likewise, Chickering
(1993) proposed a seven-phase model of college
student cognitive development that addresses the
balancing of achievement and emotions while
developing proper interpersonal relationships
and establishing purpose in life. Finally, Kegan
(1982) provided an Eriksonian-type lifelong development theory that stresses staged movement
from early reactions to the environment toward
awareness of surroundings and development,
change, and stabilization of new interpersonal
relationships throughout life.
D. Hollar
15.2.3Cognitive Development and

Self-Concept
Each of these theories of cognitive development considers the individuals perceptions and
reactions to the environment, which includes
an expanding array of family, peers, authority
figures, other individuals, experiences, culture,
and events throughout life. The theories are general and overlapping with different emphases, so
they may apply in a variety of different ways to
each unique individual, even for identical (i.e.,
monozygotic) twins. Furthermore, the plethora
of psychometric instruments that aims to assess
these different behavioral components of cognitive development have strong validities but have
trouble generalizing to a vast universe of differential personal experiences (Goldman and Mitchell 2007; Messick 1988). The theories stress the
importance of the individual gaining knowledge,
understanding of actions and consequences, appropriate behaviors and roles in society, and
achievement of stability (i.e., maturity) via selfreliance and the maintenance of at least several
strong interpersonal relationships. This last component is emphasized via Heaths (1968) focus
on the development of self-concept, a sense of
ones place in the world and the capacity to succeed in life.
Shavelson et al. (1976) developed and validated a model of general self-concept that incorporates academic, emotional, social, and physical self-concepts and that has been subsequently
validated by other researchers (Byrne 1996;
Hattie 1992). The self-concept models support
a dynamic, contextual approach to learning that
contrasts facilitators and barriers in the students
social environment. Furthermore, Marsh and
Craven (2006) posited that academic self-concept and achievement are reciprocal causes and
effects of each other. Marsh and OMara (2008)
tested this model with Youth in Transition student
data, finding that high school grade point averages and postsecondary educational attainment
significantly predicted subsequent academic
self-concepts, which in turn significantly predicted subsequent high school grade point averages or postsecondary educational attainment.
Covington (1992) makes a compelling case for

educational systems that promote childrens selfworth (i.e., self-concept) with low fear of failure
in order to improve school and social achievement. Martin (see Chap.3, this book as well as
Marsh et al. 2006) for a detailed account of the
importance of self-concept for CSHCN.
The emphases upon developing friendships
and meaningful interpersonal relationships that
have been highlighted in Erikson (1997), Kohlberg (1973), Chickering (1993), and Kegans
(1982) development theories are important for
CSHCN because strong social supports improve
health and other life outcomes and because youth
with disabilities are at increased risk for developing secondary health conditions and for engaging in negative risk behaviors (Hollar and Moore
2004). Furthermore, Seeman etal. (2002, 2004)
provided evidence that individuals with fewer
than three friends exhibited significantly high
risks for heightened allostatic (i.e., stress) load,
morbidity, and mortality.
The contextual nature of human development
and human uniqueness has been incorporated
into tools used to evaluate disability, facilitators, barriers, conditions, and social participation
among CSHCN. The most notable such contextual tool is the International Classification of
Functioning, Disability, and Health (ICF), a hierarchical device that can evaluate any person
with or without a disability plus the personal,
social, and environmental factors that impact the
CSHCN (Depoy and Gilson 2004; Simeonsson
and Boyles 2001; WHO 2001). The adult ICF
(WHO 2001) has been modified and validated
for infant, child, preadolescent, and adolescent
versions (ICF-Children and Youth; Lollar and
Simeonsson 2005; Simeonsson etal. 2003).
Theories of cognitive development and the
ICF can be used to evaluate CSHCN as they
develop. Depending upon the parameters being
assessed, CSHCN may exceed or fall below expected developmental curves, however general,
for children without disabilities. Whereas cognitive psychologists utilize criteria such as the
ICF and the Diagnostic and Statistical Manual
of Mental Disorders (DSM-IV; American Psychiatric Association 2000) for evaluating various
293
aspects of child cognitive and psychosocial development, the ICF is more widely used in Europe and the DSM-IV does not utilize standardized growth curves that have been validated with
large populations. Consequently, CSHCN can be
misdiagnosed, so practitioners should thoroughly
evaluate CSHCN over time to determine intervention needs and if the child might overcome
perceived developmental deficiencies to the level
of children without disabilities. In any case, each
CSHCN is unique.
The developmental theories further demonstrate the importance of both genetics and environment in shaping development, although
the environmental experience component has
more widely been used by researchers until the
expanded availability and ease of use of molecular biological technologies beginning in the
late 1990s. Even so, the uniqueness of each individual, both genetically and experientially, is
staggering (see Chap.14, this volume). To date,
researchers have focused primarily on behavioral conditions, genetic and metabolic inherited
conditions (see Chaps.13, 14), and birth defects
discussed in Sect. 15.4. This last category falls
under the scope of development because it constitutes physical developmental processes, some
inherited, others environmentally impacted, that
arise during critical developmental events when
the child is inside its mother and that ultimately
contribute to cognitive developmental problems
later in childhood and adolescence.
15.3Return to the Beginning:

Conception and Normal
Human Physical Development
Human development beings once a sperm containing 23 paternal chromosomes fuses with a
much larger egg containing 23 maternal chromosomes plus energy-generating mitochondria,
nutrient reserves, and proteins/enzymes that
regulate genes located on the now 23 pairs of
chromosomes in the nucleus of this first cell, the
zygote. The gene regulatory changes set in motion a cascade of cellular events that lead to a cell
division to produce two cells with specific events
294
occurring in those two cells for division to produce four cells, and so on. These early multicellular stages of the developing embryo start in the
upper one-third of the mothers fallopian tube,
where fertilization usually occurs. Thousands of
tiny cilia along the inner lining of the fallopian
tube gradually move the dividing cells of the
early embryo down to the uterus, where further
division and implantation in the uterine lining
will start the gestational period (i.e., pregnancy).
From the very beginning, the expressed genes
in the cells of the developing embryo begin to
be differentially controlled based upon positional
information (e.g., regulatory proteins, RNAs,
small molecules such as cyclic Adenosine Monophosphate) and growth factors (e.g., fibroblast,
epidermal, insulin-like, platelet-derived growth
factors) that were present in the unfertilized egg
before fertilization and that continue to be present and to change as various cells in the early embryo commit to specific developmental pathways
(e.g., to become a blood vessel, an organ, tissue layer, etc.), processes termed determination
and differentiation (Wolpert et al. 2011). These
events are critically timed for proper cell divisions and developmental commitments to occur,
and they depend on previous events starting all
the way back to the gene regulatory information
in the egg.
Consequently, disruptions to maternal health,
including stress, nutrition, medications, substance use, exposure to environmental chemicals
and pathogens, can reach the developing embryo
via the mothers bloodstream and nervous system, with these agents diffusing into the fallopian
tubes or uterus surrounding the embryo. Such
effects will continue throughout the pregnancy,
as the embryo will be exposed to at least some
degree everything that the mother experiences.
Most importantly, the impact of these agents and
events upon the embryo will be greatest during
the early developmental stages that set the foundation for all subsequent human development
and tissues for the entire lifespan, not including
the events that the child will experience from
birth onward.
Furthermore, evidence indicates that an individuals development can be genetically impact-
D. Hollar
ed by exposures to famine and other experiences

encountered by an individuals grandparents
(Pembrey et al. 2006)! These transgenerational
epigenetic effects occur via methylation of specific DNA sequences in genes (Fraga etal. 2005;
Symonds 2010) that can be maintained and transmitted in sperm and egg. This discovery leaves
us with a sobering realization: our experiences
and exposures to chemicals and events can affect
our descendants over many generations (Pembrey et al. 2006). There is additional evidence
that immune system molecular incompatibilities
between mother and father can severely impact a
pregnancy (Pearson 2002).
A human pregnancy typically lasts for 9
months (i.e., approximately 270 days), and is
arbitrarily divided into three, 3-month periods
called trimesters. It is the first trimester when
major developmental events and the building of
all body tissues and organs occur, although the
final two trimesters are needed for finalization of
body structures and their growth to functioning
and integrated status for full survival. Therefore,
the mother must provide the greatest protection
to the embryo during the first trimester, and especially during the early first trimester. Unfortunately, because of the small embryo size and the
lunar menstrual cycle, the mother might not be
aware of the pregnancy for at least 1 month, during which the unborn child develops all organs.
Therefore, maternal and child health programs
need to educate mothers and families for healthy
living at all times during the reproductive years.
Even with healthy living, it is possible for
mothers to give birth to children with birth defects (described in Sect.15.4), genetic/metabolic
conditions (see Chaps. 13, 14), or behavioral
conditions (e.g., deviations from psychosocial
theories described above). A vast array of genetic
and environmental factors can produce such conditions, with the child experiencing a disability
or other special health care need. Occasional miscarriages are often due to birth defects, especially
for chromosome abnormalities, and many miscarriages early in development go undetected and
are missed as a routine menstrual period (Yang
etal. 2006). Whereas research has demonstrated
increased risk for poor infant health outcomes
when the mother engages in substance abuse,

poor nutrition, and limited prenatal health care
(Kogan etal. 1994), assigning blame to parental
behaviors in many instances might be fallacious
given the complexity of cause and effect relationships and the myriad stress and uncontrollable
environmental exposures that every person experiences.
15.3.1First Trimester
The first 2 months of development can be classified into 23 Carnegie Classification stages
(ORahilly and Muller 1996). Stage 1 is fertilization. Stage 2 lasts through day 3 and involves
uneven cell divisions up to a 16-cell embryo that
is moving down the fallopian tube toward the
uterus.
During stages 34 (days 46 of development),
the embryo is a hollow ball of perhaps 100200
cells termed a blastocyst with a diameter of approximately 0.2mm (ORahilly and Muller 1996;
Wolpert etal. 2011). A large portion of the blastocyst cells represent trophectoderm tissue that will
develop into nonembryonic support tissues such
as the placenta. The placenta will serve not only
for oxygen and nutrient transport to the embryo
as well as waste removal; it will play a major
role in the chemical events that influence embryonic development. For example, the placenta
will take some of the amino acid tryptophan from
the maternal blood and use it to manufacture the
hormone serotonin that will enter the embryos
blood and trigger brain development (Bonnin
etal. 2011; McKay 2011).
During a lengthy stage 5 (days 712 of development), the true embryonic cells representing
the epiblast of the blastocyst fold inward to produce a gastrula/trophoblast that is solid throughout, thereby generating three embryonic tissue
layers: ectoderm (i.e., outer layer), mesoderm
(middle layer), and endoderm (inner layer). The
ectoderm will give rise to skin and nerve tissue;
the mesoderm will give rise to all muscles, the
skeleton, circulatory system, and kidneys; and
the endoderm will give rise to all other internal organs (e.g., lungs, intestines; Wolpert etal.
295
2011). To conclude stage 5, the trophectoderm

will fuse with the uterine lining to begin the pregnancy, which will be maintained by hormonal
signals from the embryo proper to the mothers
pituitary and adrenal glands for her to produce
high levels of progesterone. The embryo will be
further supported and protected by the trophectoderm-derived amniotic cavity.
By stages 67 (days 1322), the embryo consists of thousands of cells that are disproportionately arranged to begin formation of body tissues
and organs. The embryo is approximately 0.4mm
in diameter, and a primitive notochord (i.e., nerve
cord) that is the precursor to the spinal cord has
formed. Blood cell production begins in the extraembryonic tissues, and blood vessels begin to
form and deliver blood to the embryonic tissues.
With implantation in the uterine lining, the extraembryonic trophectoderm begins to form the umbilical cord, arteries, and veins for transplacental transport of nutrients and waste to and from
the maternal circulatory system (ORahilly and
Muller 1996). The blood cell-producing hematopoietic stem cells in the extraembryonic tissues
will later migrate to the developed thymus gland,
spleen, and liver, later settling in the bone marrow (Knapp 1998; Petrie etal. 2009). The median
pharyngeal groove will split and fold into tissues
that will separate into the esophagus and trachea
(Kovesi and Rubin 2004).
The anterior (i.e., front toward the head) portions of the notochord will fold and subfold to
begin formation of the brain during stage 8 (approximately 23 days). The process of tissue
folding is critical to much of tissue and organ
development as well as continued changes in
programmed gene regulation leading to cell division, determination of tissue and subtissue types,
and final differentiation into permanent tissues.
Apoptosis, or programmed cell death, will occur
in some locations because, as prestructures form,
certain areas of those prestructures die to achieve
final shape and form. For example, three primitive, nonfunctional embryonic kidneys (i.e., pronephros, mesonephros, metanephros) develop
during the first 21 days of development, with
the pronephros degenerating and part of the mesonephros being redirected to form parts of the
296
reproductive system and the metanephros advancing to eventually become the infant/adult
kidneys (ORahilly and Muller 1996; Wolpert
etal. 2011).
During stage 9 at about 25 days postfertilization, somites first appear. Somites are distinguishable blocks of mesodermal tissue that
emerge in pairs beside the notochord on the back
of the embryo. The somites will differentiate into
the vertebrae, skeletal muscles supporting the
vertebrae and ribs, and the dermal layer of the
skin. The vertebrae will not calcify at this point,
but instead they will develop mainly from cartilage. The major brain regions (cerebrum, cerebellum, brain stem) are distinguishable at stage
9, and the heart begins to form from the fusion of
major veins (ORahilly and Muller 1996).
By stage 10 (about 28 days), the heart has
started beating and pumping blood through the
embryonic circulatory system, further brain folding and anterior notochord folding gives rise to
optic (i.e., eye), otic (i.e., ear), thyroid, and prerespiratory tissue (i.e., air sacs for lungs) buds,
and the embryo is approximately 3.5 mm long
(ORahilly and Muller 1996). By the end of stage
12 (30 days), upper limb buds and the lung bud
form, and there is further nerve cord folding to
form the spinal cord and lateral nerves with surrounding protection by the beginnings of the cartilaginous vertebral column. All four limb buds
and substantial development of the eyes and ears
occur by the end of stage 14 (33 days; ORahilly
and Muller 1996).
During stages 1517 (days 3641), the embryo doubles in length from approximately 7 to
14mm. Lung lobes begin to form, fingers begin
to develop in the hand plate (via apoptosis of intervening segments), and the foot plate appears.
The eye and ear components develop in greater
detail, including refinement of the optic lens and
the deposition of pigment into the retina. The embryonic head is pronounced with distinctive brain
regions and hemispheres, and cartilage-producing chondrocytes deposit cartilage in the future
vertebral column and limb bones (ORahilly and
Muller 1996).
The embryo increases in length to almost
18mm during stages 1819 (days 4446). Eyes
D. Hollar
and ears continue to grow, toes form in the foot

plate, and some bones begin to ossify (ORahilly
and Muller 1996). Most notably, the heart chambers are established even after its beginning to
beat earlier in development, although there is an
opening termed the foramen ovale between the
right and left ventricles. The foramen ovale is
worth noting because of its involvement in several birth defects. In adults, the right heart chambers move deoxygenated blood from the body
to the lungs, whereas the left chambers move
oxygenated blood from the lungs out to the rest
of the body. As the lungs will not be fully developed until the late third trimester and as the
unborn child receives continuous oxygenated
blood from the mother across the placenta via the
umbilical vein, the foramen ovale remains open,
thereby allowing blood mixing between the right
and left ventricles until birth, when tissue closes
and seals the foramen ovale. Failure of foramen
ovale closure at birth and related heart development malfunctions (e.g., interatrial and interventral septal defects, heart vessel transpositions,
etc. described below) can create life-threatening
postnatal conditions.
During stages 2021 (days 4951), cranial,
spinal, and perpetual nerves innervate much of the
body, including the major organs such as the eye,
brain, and liver. The metanephros is growing into
the future kidneys, with each prekidney growing with increasing thousands of blood filtration
subtissues termed glomeruli. The arms and legs
increase in length during this stage, and the fingers and toes can be identified. The gonads, undifferentiated until 56 weeks, commit to ovarian or
testicular development by this stage. In females,
the ovary will generate seven million primary
oocytes before the end of the first trimester, and
these oocytes will be suspended in meiotic prophase I until puberty, many suspended all the way
to menopause. Testicles in males will not form
sperm until puberty (ORahilly and Muller 1996).
During the final Carnegie embryonic stages
2223 (days 5356), all organs and extended
body structures will have formed, although many
organs and organ systems (e.g., lungs, kidneys)
will not have achieved full growth and functioning for all organ components. The embryo will be
approximately 2731mm long, and the head will

represent almost half of the body length. Major
endocrine organs, particularly the pituitary-hypothalamic axis, will form by the end of stage 23
(ORahilly and Muller 1996).
The end of stage 23 represents the beginning
of the fetal period to complete the last month of
the first trimester and continue until birth. The
first 2 months of physical development involves
an incredibly complex sequence of events. Any
disturbance in one or several of these developmental events can have a lifelong impact on the
eventual child and adult.
15.3.2Second Trimester
During the second trimester, the unborn child
continues to grow, and the major organs and
organ systems complete their development. The
approximately 206 skeletal bones grow, beginning mostly as cartilage followed by ossification
with bone tissue. The blood cell-producing hematopoietic stem cells finish their migration to
the red bone marrow of flat bones such as the
ribs, where they will continue blood cell production for the duration of the lifespan. External reproductive structures are visible by the end of the
second trimester. Consequently, any reproductive birth defects (described in Sect.15.4) can be
identified via ultrasonography.
The bone structures of the face and skull become more refined during this period. Nerves
and blood vessels fractally extend throughout the
body, to and from every region and organ, covering thousands of miles in extent. Each lungs
alveoli for gas exchange and kidneys glomeruli
for blood filtration number over one million. By
the end of the second trimester, the baby is marginally capable of survival outside the mother if
born prematurely. At this stage, survival is contingent upon finalization of structural features of
the heart (e.g., closure of the foramen ovale), molecular changes in brain and blood chemistry, and
improvement of lung alveolar pressure capacity
via chemical surfactant (ORahilly and Muller
1996; Wolpert etal. 2011).
297
15.3.3Third Trimester and Birth

During the third trimester, the lungs and kidney
become fully functional, although the lungs will
not be utilized until birth. The body dramatically
increases in size with substantial brain growth,
such that the head represents about 40% of the
body. The bone growth in the thoracic cavity,
vertebrae, arms, and legs continues, although
the skeleton still will be over 50% cartilage at
birth. During birth, the babys head will press
against the mothers cervix, triggering cyclically more intensive production of oxytocin from
the mothers pituitary gland, providing positive
feedback for more frequent contractions leading
to expulsion of the baby from the uterus at birth
(ORahilly and Muller 1996).
At birth, the infant typically averages
4852cm (1920in.) length and 2.73.6kg (5.7
7.6Lbs) weight (Knapp 1998). Furthermore, numerous studies (Wilcox 2001) have shown that
birth weight is a more reliable indicator of premature births than estimated gestational age, with
low birth weight (i.e., preterm) being designated
at less than 2.5kg (Chase and Byrnes 1972).
15.4Birth Defects
The birth pediatrician and health care team are
the best source for information, health care, and
guidance on birth defects and their proper treatment. Major resources for information on diagnosed birth defects include the following institutes and organizations:
National Organization for Rare Disorders
(NORD; www.rarediseases.org).
National Birth Defects Prevention Network
(www.nbdpn.org).
Centers for Disease Control and Prevention
(www.cdc.gov).
National Center for Birth Defects and Developmental Disabilities (www.cdc.gov/ncbddd).
World Health Organization (WHO; www.
who.int).
March of Dimes (www.marchofdimes.org).
Family Voices (www.familyvoices.org).
298
In the United States, the National Birth Defects Prevention Network (2003; www.nbdpn.
org) collects data on over 40 conditions; they
are grouped by major body/functional area in
Table 15.1. Major categories are: (1) heart, (2)
brain/neural tube, (3) neurological/sensory, (4)
orofacial, (5) abdominal, (6) gastrointestinal, (7)
reproductive, (8) chromosome, and (9) limb morphology conditions. These 40 conditions are by
no means exhaustive, and they pale in comparison to the hundreds of genetic/metabolic conditions, some of which are described in Chap.14.
15.4.1 Heart Conditions

Twelve major heart conditions include aortic
valve stenosis, atrial septal defect, coarctation of
the aorta, common truncus arteriosus, Ebsteins
anomaly, endocardial cushion defect, hypoplastic
left heart syndrome, pulmonary valve atresia and
stenosis, Tetralogy of Fallot, transposition of the
great arteries, tricuspid valve atresia and stenosis,
and ventricular septal defect (Table15.1).
Aortic valve stenosis involves a narrowed
opening for blood flow into the aorta from the
left ventricle of the heart; it requires surgical correction (Hinton etal. 2007). Atrial septal defect is
a malformed septum separating the right atrium
from the left ventricle near the tricuspid valve,
which causes inefficient mixing of deoxygenated
and oxygenated blood. The infant will have bluish skin (i.e., cyanosis), difficulty breathing, and
will require heart surgery to correct the condition
(Singh etal. 2011).
Coarctation of aorta involves severe narrowing of the aorta, the largest body artery exiting
the heart for delivery of oxygenated blood to all
body tissues. Infants suffer hypoxia and poor circulation. The condition is treatable with the heart
surgery and insertion of a stent to widen the aortic
opening. The treatment sometimes is performed
on adults with this condition, but normally is performed on children (Mohan etal. 2009).
Common truncus arteriosus occurs when there
is failure of the separation of the common trunk
from which the aorta/coronary arteries and pulmonary arteries exit the heart. There is improper
D. Hollar
Table 15.1 Major birth defects tracked by the National
Birth Defects Prevention Network
Heart
Aortic valve stenosis

Atrial septal defect
Coarctation of aorta
Common truncus arteriosus
Ebsteins anomaly
Endocardial cushion defect
Hypoplastic left heart syndrome
Pulmonary valve atresia and
stenosis
Tetralogy of fallot
Transposition of the great
arteries
Tricuspid valve atresia and
stenosis
Ventricular septal defect
Brain/neural tube
Anencephalus
Encephalocele
Anophthalmia
Microphthalmia
Hydrocephalus without spina
bifida
Spina bifida without
anencephalus
Neurological/sensory Fetal alcohol syndrome
Vision
Hearing
Orofacial
Amniotic band syndrome
Anotia
Microtia
Choanal atresia
Cleft lip with and without cleft
palate
Cleft palate without cleft lip
Abdominal
Bladder extrophy
Diaphragmatic hernia
Gastroschisis
Omphalocele
Gastrointestinal
Biliary Atresia
Esophageal atresia
Tracheoesophageal fistula
Rectal and large intestinal atresia and stenosis
Renal agenesis/hypoplasia
Reproductive
Hypospadias
Epispadias
Cryptorchidism
Chromosome
Trisomy 21
Trisomy 13
Trisomy 18
Limb morphology
Reduction deformity
mixing of oxygenated and deoxygenated blood,

resulting in reduced/inefficient delivery of oxygenated blood to body organs and tissues. The
condition has been attributed to chromosome
deletions in chromosome 22q11, like many congenital heart conditions, and it often is fatal early
in infancy but can be treated surgically with positive developmental results (Hawkins etal. 2010).
Ebsteins anomaly is a malformation of the
tricuspid valve, which regulates flows of lowoxygenated blood returning from the body between the right atrium and right ventricle before
going to the lungs for oxygenation. The poor
blood transfer results in a cyanotic (bluish) appearance, difficulty breathing, and vein pulsations, together leading to death. The condition
can be surgically corrected (van Son etal. 2001).
Endocardial cushion defect a developmental
defect where there is abnormal cell migration
to properly form the heart valves and septa that
separate the right and left atria and ventricles.
Approximately 5% of children have this or another heart defect at birth, and this defect as in
others requires early surgical intervention to reconstruct the septa and/or valves (Stevens etal.
2008). Otherwise, there is inadequate blood flow
through the heart, further potentially impacting
oxygen delivery to tissues, contributing to laterlife complications and/or death.
Hypoplastic left heart syndrome is a malformation of the left heart chambers, including
the bicuspid (i.e., mitral) and aortic valves. It is
inherited (Chromosome 6q21-q23.2; OMIM
241550 (McKusick 1966, 1990, 1998; www.
ncbi.nim.nih.gov/omim)).
Pulmonary valve atresia and stenosis occurs
approximately once in 22,000 pregnancies and
can be identified prenatally. Atresia involves a
missing pulmonary valve preventing controlled
blood flow to the lungs, whereas stenosis involves a constricted pulmonary artery preventing
adequate blood flow to the lungs. Parents are advised to consult their pediatrician for options for
the pregnancy and long-term outcomes, which
are poor. (Gardiner etal. 2008).
The Tetralogy of Fallot is a set of heart conditions, including pulmonic stenosis, atrial septal defect, and/or right ventricular hypertrophy.
299
Symptoms include reduced left ventricular systolic function for delivering oxygenated blood
out to the body, with heart surgery necessary to
reduce the mortality risk (Muzzarelli etal. 2011).
Transposition of great arteries describes several conditions where the aorta and pulmonary
arteries are switched, resulting in fatal transport
of deoxygenated blood to the body tissues following birth. The condition can be surgically
treated, although complications, death, and cardiac anomalies can persist, but treated patients
have been successfully followed into adolescence (Gorler etal. 2011).
In tricuspid valve atresia and stenosis, there is
a missing or abnormal tricuspid valve that normally separates the right atrium and ventricle. The
malformation prevents proper blood flow. Atresia involves a missing tricuspid valve preventing controlled blood flow through the right heart
chambers, whereas stenosis involves a constricted
valve preventing adequate blood flow to the right
ventricle and to the lungs (Gardiner etal. 2008).
Finally, ventricular septal defect involves an
opening between the two ventricles, enabling
mixing of deoxygenated and oxygenated blood
for poor tissue delivery and cyanosis. If not treated surgically, death can occur within 2 months
(Thiele etal. 2009).
15.4.2Brain/Neural Tube Conditions

Brain and neural tube conditions include
anencephaly, anophthalmia, microthalmia, encephalocele, hydrocephalus without spina bifida,
and spina bifida without anencephalus. Anencephalus occurs when there is drastically reduced
brain development, with small cerebrum, cerebellum, and/or brain stem along with no cranial
bones for protection. In anophthalmia/microphthalmia, the eyes are missing or reduced in size
(Stedman 2000).
Encephalocele is a neural tube condition involving an opening of the skull with exposure
and/or extrusion of brain material, sometimes
including exophthalmos (i.e., extrusion of the
eyeballs) but often posing risk for infection if not
surgically corrected.
300
Hydrocephalus without Spina Bifida represents a condition, literally meaning water on

the brain (i.e., hydro = water and cephalus =
brain), that involves fluid accumulation in the
brain leading to brain damage. It can result from
a variety of conditions throughout life, including
infection, but with newborn infants it is usually
fatal unless there is surgical removal of the fluidproducing ventricle or a shunt is introduced to remove fluid (Sandberg 2007), with most children
with shunts requiring surgical adjustments with
risk for infection requiring continuous health
care into adulthood (Simon etal. 2009).
Conversely, spina bifida without anencephalus occurs when there is abnormal development
and curvature of the spine, resulting in nerve
damage, difficulty walking, and problems with
bodily functions such as bladder and sphincter
control. The condition requires multiple surgeries
throughout childhood and adolescence, and improved surgical approaches and treatments have
reduced mortality associated with the condition
(MMWR 1989). With the multiple surgeries, rehabilitation practitioners have developed exercise programs to assist children with this condition (NCPAD 2007).
15.4.3Neurological/Sensory
Conditions
Neurological conditions include fetal alcohol
syndrome (FAS), hearing and vision abnormalities. FAS (see Chap.12) is a serious and prevalent
condition that results from maternal alcohol or
other substance abuse. Children with FAS experience delayed development, nervous system damage, and facial abnormalities, and they require
special health and education services throughout
youth and adolescence (Chap.12; Kvigne etal.
2009). Hearing and vision conditions and treatment are described in Chaps.68, respectively.
15.4.4Orofacial Conditions
Orofacial conditions include amniotic band syndrome, anotia, microtia, choanal atresia, cleft lip
D. Hollar
with and without cleft palate, and cleft palate

without cleft lip. Amniotic band syndrome involves malformations of the face, skull, and arms
and legs. The condition can be detected prenatally by ultrasonograms of the unborn child (Richardson 1994). In anotia/microtia, the ear lobes
are reduced or missing, respectively.
Choanal atresia is the failure of the bucconasal membrane to fold properly, leading to nasal
blockage and life-threatening airway obstruction in newborn infants. The condition requires
a straightforward surgical correction. A more
frequent orofacial folding condition is cleft lip
with and without cleft palate. Cleft lip involves
a deformation of the lip that may or may not extend into the upper hard palate of the roof of the
mouth, resulting from improper tissue folding
during development of the lower cranium. Like
several morphological conditions, the incidence
of the condition can be reduced by maternal consumption of folic acid, and the condition also can
be surgically corrected (Harville etal. 2005). The
converse condition, cleft palate without cleft lip,
is a malformation of the hard palate of the upper
mouth, but not extending to the lip. (Harville
etal. 2005). Cleft palate alone can be surgically
corrected via orofacial surgery.
15.4.5Abdominal Conditions
Abdominal conditions include bladder extrophy,
diaphragmatic hernia, gastroschisis, and omphalocele. Bladder exstrophy is a gap in the front
wall of the bladder with the abdominal wall that
results from failure of abdominal muscle development, resulting in entanglement of part of the
bladder through the front of the abdomen (Stedman 2000). Surgery is required to repair the gap.
Similarly, but in a different location, a diaphragmatic hernia occurs when abdominal organs
such as the intestines protrude into the chest cavity (affecting heart and lung functioning) through
a hole or weak spot in the muscular diaphragm
muscle (Stedman 2000). It requires urgent surgical correction as well.
Gastroschisis is another organ extrusion condition where the front abdominal wall remains
fused with the skin so that the intestines and

other abdominal organs protrude near the navel.
Davies and Stringer (1997) followed 35 infants
born between 1972 and 1984, finding that with
surgical corrections that maintain the umbilicus,
most patients developed with good health, although bowel obstruction is a risk (Davies and
Stringer 1997).
Omphalocele is another organ extrusion
condition that appears to be inherited (OMIM
164750) as an autosomal dominant trait (Kanagawa et al. 2002; McKusick 1966, 1990, 1998;
www.ncbi.nim.nih.gov/omim). It involves protrusion of the intestines and abdominal contents
into the umbilical cord, unlike gastroschisis. The
condition might be preventable with prenatal
maternal multivitamin intake, with Botto et al.
(2002) finding a 60% reduction of this condition from mothers who used multivitamins. It
requires surgical correction. It occurs in one of
every 2,0003,800 births (Kanagawa etal. 2002).
15.4.6Gastrointestinal Conditions
Major gastrointestinal conditions include biliary
and esophageal atresias, tracheoesophageal fistula, rectal and large intestinal atresia and stenosis,
and renal agenesis and/or hypoplasia. Biliary atresia is characterized by abnormally small bile ducts
leading from the liver, causing bile accumulation,
jaundice, and liver damage (Stedman 2000).
Esophageal atresia and tracheoesophageal fistula frequently occur together in infants, although
they may occur alone. The incidence rate is approximately one out of every 2,4004,500 births
(Kovesi and Rubin 2004). Esophageal atresia involves an obstruction in the esophagus, thereby
disrupting digestive functions. Tracheoesophageal fistula involves an abnormal connection
between the esophagus and trachea other than
the pharynx (Kovesi and Rubin 2004). It can be
surgically corrected, although eventual mortality
remains high at 22% (Tsai etal. 1997).
Rectal and large intestinal atresia/stenosis involve constriction or blockage of the intestine.
Treatments include surgery, transplantation, and
hormone administrations to promote proper in-
301
testinal growth, although complications may

ensue if the infant also has heart abnormalities
or liver disease (Dalla Vecchia etal. 1998). Renal
agenesis involves missing kidneys accompanied
by poor lung development, a condition that is
fatal and occurs in approximately 13 of every
10,000 births (Slickers et al. 2008). Renal hypoplasia produces underdeveloped kidneys and
high blood pressure, often being fatal as well.
The conditions are higher among individuals
from lower socioeconomic backgrounds, and the
identification of other contributing factors have
yielded conflicting results (Slickers etal. 2008).
15.4.7Reproductive Conditions
These conditions include hypospadias, epispadias, and cryptorchidism. Hypospadias is an abnormally located urethral opening in the underside
of the penis of males or in relation to the vagina
of females. In epispadias, the urethral opening is
on the back side of the penis. Hypospadias occurs
in approximately 38 of every 1,000 male births,
and both conditions can be surgically corrected
(Porter etal. 2005).
Cryptorchidism is failure of one or both of the
testicles to descend into the scrotum, with incidences varying by decade and geographically
(Virtanen and Toppari 2008). It happens in 2.7
8.4% of male births, sometimes occurring with
hypospadias or epispadias with higher percentages for preterm births. Testicles eventually descend spontaneously, partially, or require surgical
correction (Virtanen and Toppari 2008).
15.4.8Chromosome Abnormality
Conditions
Many spontaneous miscarriages occur due to
serious abnormalities in chromosome numbers,
with less than two copies of chromosomes 122
in many instances or often involving extra copies of chromosomes. These miscarriages include
three of the more prevalent trisomy conditions,
where there is an extra chromosome with triple
instead of the normal double dosage of products
302
produced by genes located on the affected chromosome. Infants with trisomies for chromosomes
13, 18, and 21 are capable of surviving past birth
in some instances, although the children experience substantial health problems.
Trisomy 13 occurs in approximately one of
every 20,000 births. Its symptoms include mental retardation, deafness, heart problems, multiple fingers and/or toes, cleft lip and/or palate
(Gardner and Snustad 1984). Trisomy 18 occurs
in approximately one of every 8,000 births. Trisomy 18 symptoms include mental retardation
and abnormalities of most internal organs due to
excessive dosage of all genes on the extra, third
chromosome 18. Most infants die in the first year
(Gardner and Snustad 1984).
Trisomy 21, better known as Downs syndrome,
involves triplication of protein production from
all genes on the 21st chromosome. The condition
occurs more frequently in infants born to older
mothers, and the condition invariably results in
serious but varying levels of mental retardation,
heart problems, etc. (Gardner and Snustad 1984).
15.4.9Limb Morphology Conditions

Reduction deformity involving the upper or
lower limbs occurs when limbs are missing or
reduced in length, due to unknown genetic and/
or environmental causes, including use of certain
prescription medications (e.g., thalidomide) that
are now banned (Smith etal. 1977).
15.5Folic Acid, Nutrition, and Birth

Defects
A growing research literature has demonstrated
that strong maternal nutrition can substantially
reduce the occurrence of many birth defects
as well as benefit overall female health. Good
nutrition consists of a complete, well-balanced
diet. It especially provides the mother with the
full nutritional quota for B vitamins plus vitamins A, D, E, and K that are important for maternal bone remodeling, minerals (e.g., iron,
magnesium), and amino acids. Research shows
D. Hollar
that multivitamins plus the B vitamin folic acid

significantly reduce the incidences of congenital
heart conditions, orofacial clefts, and spina bifida described above (Bailey and Berry 2005).
The recommended daily dose of folic acid is
400 g/dg of body weight (Bailey and Berry
2005). Most breakfast cereals are fortified with
this quantity of folic acid, which can be verified
on food product labels.
Folic acid functions in the body as an enzymatic cofactor to aid in the synthesis of red blood
cells as well as purines and pyrimidines, the components of deoxyribonucleic acid (i.e., DNA, the
genetic material in all cells). Consequently, folic
acid will be needed for most tissue growth and
development. Because of latent periods for ingestion and tissue delivery of nutrients, any woman
even considering a pregnancy should be exercising and maintaining a healthy diet containing
multivitamins and folic acid, even for her general well-being, immune system functioning, and
overall long-term health (e.g., preventing bone
loss via folic acid and vitamins A, D, E, and K;
Hollar 2000).
15.6The Medical Home

and Prenatal Care
The vast continuum of disability and physical/
psychosocial developmental variation can arise
from events during embryonic development,
early childhood, and adolescent experiences.
Therefore, it is important for CSHCN and their
families to have a medical home (see Chap.21), a
regular physician, clinic, and/or health care center where medical, counseling, and other health
care professionals can monitor changes in conditions and provide updated care. Ideally, the medical home should be established by the family
prior to conception to insure continuity of care,
address parental health factors that might impact
children, and to provide proper planning for optimal pregnancy outcomes for child and mother.
Even if a family changes health providers, there
should be continuity of care with transfer of all
family health records from the former to the new
provider (Johnson 2001).
15.7The Consilience of
Psychosocial and Physiological
Development
CSHCN are extremely diverse in terms of their
physical and/or psychosocial developmental
needs. Biopsychosocially, CSHCN in general
do not follow the psychosocial developmental
stages at the same pace as children without disabilities, nor should they do so. Few studies have
adequately standardized normal development
for children in general, leave alone specific types
of disability. In reality, every child develops
uniquely at their own pace such that the line between disability and nondisability can be confusing and constantly changing with development.
Every child is unique, so it is the responsibility
of providers, family, advocates, peers, and the
community to provide inclusive environments
for CSHCN.
Disabilities in cognitive, psychosocial, and/or
physical development throughout life derive from
a complexity of events, usually beyond their or
their familys control, that occurred genetically,
epigenetically across generations, and/or environmentally and that impacted them beginning
at the moment of conception. There is much that
can happen to an individual during development,
but the first trimester is the most critical period
because it sets the developmental cell differentiation and tissue folding/growth patterns for the
entire lifespan. Proper prenatal care and maternal
health aim to substantially reduce risks, although
complete elimination of risk is impossible.
Likewise, psychosocial development can be
guided to reduce but not completely eliminate
risks. Medical homes and the involvement/integration of CSHCN into society can optimize
individual opportunities for full, productive
lives. The ICF model (Depoy and Gilson 2004;
Simeonsson etal. 2003; WHO 2001) provides a
framework for integrating conditions, needs, social, and environmental factors that can be modified to improve health outcomes for CSHCN.
The etiology of disability for CSHCN may be
genetic or environmentally influenced, but the
social environment can be adjusted to improve
outcomes (Isaacs 2011).
303
References
American Psychiatric Association (2000). Diagnostic and
statistical manual of mental disorders (4th ed.). Washington: American Psychiatric Association.
Atkinson, R. C., & Shiffrin, R. M. (1969). Storage and
retrieval processes in long-term memory. Psychological Review, 76, 179193.
Bailey, L. B., & Berry, R. J. (2005). Folic acid supplementation and the occurrence of congenital heart defects,
orofacial clefts, multiple births, and miscarriage. The
American Journal of Clinical Nutrition, 8(suppl.),
1213S1217S.
Bandura, A. (1977). Social learning theory. Englewood
Cliffs: Prentice-Hall.
Bonnin, A., Goeden, N., Chen, K., Wilson, M. L., King,
J., Shih, J. C., Blakely, R. D., Deneris, E. S., & Levitt,
P. (2011). A transient placental source of serotonin for
the fetal forebrain. Nature, 472, 347352.
Botto, L. D., Mulinare, J., & Erickson, J. D. (2002).
Occurrence of omphalocele in relation to maternal
multivitamin use: A population-based study. Pediatrics, 109(5), 904908.
Bryne, B. M. (1996). Measuring self-concept across the
lifespan: Issues and instrumentation. Washington:
American Psychological Association.
Chase, H. C., & Byrnes, M. E. (1972). Trends in prematurity. Rockville: U.S. Department of Health,
Education, and Welfare, Public Health Service, Health
Services and Mental Health Administration, National
Center for Health Statistics (DHEW Publication Number (HSM)721030, Vital and health statistics series
3, no.15).
Chickering, A. W. (1993). Education and identity. San
Francisco: Jossey-Bass.
Covington, M. V. (1992). Making the grade: A self-worth
perspective on motivation and school reform. New
York: Cambridge University Press.
Dalla Vecchia, L. K., Grosfeld, J. L., West, K. W.,
Rescorla, F. J., Scherer, L. R., & Engum, S. A. (1998).
Intestinal atresia and stenosis. Archives of Surgery,
133, 490497.
Davies, B. W., & Stringer, M. D. (1997). The survivors of
gastroschisis. Archives of Disease in Childhood, 77,
158160.
Depoy, E., & Gilson, S.F. (2004). Rethinking disability:
Principles for professional and social change. Belmont: Thomson.
Diamond, A., & Amso, D. (2008). Contributions of neuroscience to our understanding of cognitive development. Current Directions in Psychological Science,
17(2), 136141.
Erikson, E. H. (1997). The life cycle completed. New
York: Norton.
Evans, N. J., Forney, D. S., Guido, F. M., Patton, L. D., &
Renn, K. A. (2009). Student development in college:
Theory, research, and practice (2nd ed.). New York:
Wiley.
304
Fraga, M. F., Ballestar, E., Paz, M. F., Ropero, S., Setien,
F., Ballestar, M. L., Heine-Suner, D., Cigudosa, J. C.,
Urioste, M., Benitez, J., Boix-Chornet, M., SanchezAguilera, A., Ling, C., Carlsson, E., Poulsen, P., Vaag,
A., Stephan, Z., Spector, T. D., Wu, Y.-Z., Plass, C., &
Esteller, M. (2005). Epigenetic differences arise during the lifetime of monozygotic twins. Proceedings
of the National Academy of Sciences USA, 102(30),
1060410609.
Gardiner, H. M., Belmar, C., Tulzer, G., Barlow, A., Pasquini, L., Carvalho, J. S., Daubeney, P. E. F., Rigby,
M. L., Gordon, F., Kulinskaya, E., & Franklin, R.
C. (2008). Morphologic and functional predictors of
eventual circulation in the fetus with pulmonary atresia or critical pulmonary stenosis with intact septum.
Journal of the American College of Cardiology, 51,
12991308.
Gardner, E. J., & Snustad, D. P. (1984). Principles of
genetics (7th ed.). New York: Wiley.
Gibson, E. J. (1991). An odyssey in learning and perception. Cambridge: The MIT Press.
Gilligan, C. (1982). In a different voice: Psychological
theory and womens development. Cambridge: Harvard University Press.
Gluckmann, P. D., Hanson, M. A., Buklijas, T., Low, F.
M., & Beedle, A. S. (2009). Epigenetic mechanisms
that underpin metabolic and cardiovascular diseases.
Nature Reviews Endocrinology, 5, 401408.
Goldman, B. A., & Mitchell, D. F. (2007). Directory of
unpublished mental measures (Vol. 9). Washington:
American Psychological Association.
Gorler, H., Ono, M., Thies, A., Lunkewitz, E. WesthoffBleck, M., Haverich, A., Breymann, T., & Boethig,
D. (2011). Long-term morbidity and quality of life
after surgical repair of transposition of the great arteries: Atrial versus arterial switch operation. Interactive
Cardiovascular and Thoracic Surgery, 12, 569574.
Haber, J. (1997). Understanding people across the life
cycle. In J., Haber, B., Krainovitch-Miller, A. L.,
McMahon, & P., Price-Hoskins (Eds.), Comprehensive
psychiatric nursing (5th ed., Chap.7, pp.91120). St.
Louis: Mosby.
Harville, E. W., Wilcox, A. J., Terje Lie, R., Vindenes, H.,
& Abyholm, F. (2005). Cleft lip and palate versus cleft
lip only: Are they distinct defects? American Journal
of Epidemiology, 162(5), 448453.
Hattie, J. (1992). Self-concept. Hillsdale: Lawrence Erlbaum Associates.
Hawkins, J. A., Kaza, A. K., Burch, P. T., Lambert, L. M.,
Holubkov, R., & Witte, M. K. (2010). Simple versus
complex truncus arteriosus: Neutralization of risk but
with increased resource utilization. World Journal for
Pediatric and Congenital Heart, 1, 285291.
Heath, D. (1968). Growing up in college. San Francisco:
Jossey-Bass.
Hinton, R. B., Martin, L. J., Tabangin, M. E., Mazwi, M.
L., Cripe, L. H., & Benson, D. W. (2007). Hypoplastic
left heart syndrome is heritable. Journal of the American College of Cardiology, 50, 15901595.
D. Hollar
Hollar, D. W. (2000). Bone changes and disorders. In P.,
Roberts (Ed.), Aging (pp.105109). Pasadena: Salem
Press.
Hollar, D., & Moore, D. (2004). Relationship of substance
use by students with disabilities to long-term educational and social outcomes. Substance Use & Misuse,
39(6), 929960.
Isaacs, E. (2011). Childrens problems in society do not
begin in childrens brains. www.parentsinaction.net.
Accessed 15 June 2011.
Johnson, K. B. (2001). Barriers that impede the adoption
of pediatric information technology. Archives of Pediatrics & Adolescent Medicine, 155, 13741379.
Kanagawa, S. L., Begleiter, M. L., Ostlie, D. J., Holcomb,
G., Drake, W., & Butler, M. G. (2002). Omphalocele
in three generations with autosomal dominant transmission. Journal of Medical Genetics, 39, 184185.
Kegan, R. (1982). The evolving self. Cambridge: Harvard
University Press.
Knapp, L. (1998). Perspectives in human biology. Belmont: Wadsworth.
Kogan, M. D., Alexander, G. R., Kotelchuck, M., &
Nagey, D. A. (1994). Relation of the content of prenatal care to the risk of low birth weight: Maternal
reports of health behavior advice and initial prenatal
care procedures. The Journal of The American Medical Association, 271(17), 13401345.
Kohlberg, L. (1973). The claim to moral adequacy of a
highest stage of moral judgment. Journal of Philosophy, 70(18), 630646.
Kovesi, T., & Rubin, M. B. (2004). Long-term complications of congenital esophageal atresia and/or tracheoesophageal fistula. Chest, 126, 915925.
Kvigne, V. L., Leonardson, G. R., Borzelleca, J., NeffSmith, M., & Welty, T. K. (2009). Characteristics of
children whose siblings have fetal alcohol syndrome
or incomplete fetal alcohol syndrome. Pediatrics, 123,
e526e533.
Lollar, D. J., & Simeonsson, R. J. (2005). Diagnosis to
function: Classification of children and youth. Journal
of Developmental and Behavioral Pediatrics, 26(4),
323330.
Marsh, H. W., & Craven, R. G. (2006). Reciprocal effects
of self-concept and performance from a multidimensional perspective: Beyond seductive pleasure and
unidimensional perspectives. Perspectives on Psychological Science, 1, 133163.
Marsh, H. W., & OMara, A. (2008). Reciprocal effects
between academic self-concept, self-esteem, achievement, and attainment over seven adolescent years:
Unidimensional and multidimensional perspectives of
self-concept. Personality & Social Psychology Bulletin, 34(4), 542552.
Marsh, H. W., Craven, R. G., & Martin, A. (2006). What
is the nature of self-esteem? Unidimensional and multidimensional perspectives. In M. Kernis (Ed.), Selfesteem: Issues and answers (pp. 1625). New York:
Psychology Press.
McKay, R. (2011). Remarkable role for the placenta.
Nature, 472, 298299.

and X-linked phenotypes (1st ed.). Baltimore: Johns
Messick, S. (1988). Validity. In S. Linn (Ed.), Educational
measurement (pp.13101). Baltimore: Johns Hopkins
University Press.
Miller, P. H. (1993). Theories of developmental psychology (3rd ed.). New York: Freeman.
MMWR (1989). Current trends economic burden of spina
bifidaUnited States, 19801990. Morbidity and
Mortality Weekly Report, 38(15), 264267.
Mohan, U. R., Danon, S., Levi, D., Connolly, D., &
Moore, J. W. (2009). Stent implantation for coarctation of the aorta in children <30kg. JACC. Cardiovascular Interventions, 2, 877883.
Muzzarelli, S., Ordovas, K. G., Cannavale, G., Meadows,
A. K., & Higgins, C. B. (2011). Tetralogy of Fallot:
Impact of the excursion of the interventricular septum
on left ventricular systolic function and fibrosis after
surgical repair. Radiology, 259, 375383.
National Birth Defects Prevention Network (2003). Birth
defects surveillance data from selected states, 1996
2000. Birth Defects Research, Part A: Clinical and
Molecular Teratology, 67(9), 729822.
NCPAD (2007). Exercise for individuals with spina
bifida. Chicago: National Center for Physical Activity
and Disability, University of Illinois at Chicago. www.
ncpad.org/exercise. Accessed 7 Aug 2011.
Newman, B. M., & Newman, P. R. (1991). Development through life: A psychosocial approach (5th ed.).
Pacific Grove: Brooks/Cole.
ORahilly, R., & Muller, F. (1996). Human embryology &
teratology (2nd ed.). New York: Wiley-Liss.
Pearson, H. (2002). Immunitys pregnant pause. Nature,
420, 265266.
Pembrey, M. E., Bygren, L. O., Kaati, G., Edvinsson,
S., Northstone, K., Sjostrom, M., Golding, J., & the
ALSPAC Study Team (2006). Sex-specific, male-line
transgenerational responses in humans. European
Journal of Human Genetics, 14, 159166.
Perry, W. G. (1970). Forms of intellectual and ethical
development in the college years: A scheme. New
York: Holt, Rinehart, and Winston.
Petrie, R. J., Doyle, A. D., &Yamada, K. M. (2009).
Random versus directionally persistent cell migration. Nature Reviews. Molecular Cell Biology, 10(8),
538549.
Piaget, J. (1954). The construction of reality in the child.
New York: Basic Books.
Porter, M. P., Faizan, M. K., Grady, R. W., & Mueller, B.
A. (2005). Hypospadias in Washington state: Maternal
305
risk factors and prevalence trends. Pediatrics, 115(4),

e495e499.
Richardson, S. M. (1994). Amniotic band syndrome.
Journal of Diagnostic Medical Sonography, 10(3),
137143.
Sandberg, D. I. (2008). Endoscopic management of
hydrocephalus in pediatric patients: A review of indications, techniques, and outcomes. Journal of Child
Seeman, T. E., Singer, B. H., Ryff, C. D., Love, G. D., &
Levy-Storms, L. (2002). Social relationships, gender,
and allostatic load across two age cohorts. Psychosomatic Medicine, 64, 395406.
Seeman, T., Glei, D., Goldman, N., Weinstein, M., Singer,
B., & Lin, Y. (2004). Social relationships and allostatic
load in Taiwanese elderly and near elderly. Social Science & Medicine (1982), 59, 22452257.
Shavelson, R. J., Hubner, J. J., & Stanton, G. C. (1976).
Self-concept: Validation of construct interpretations.
Review of Educational Research, 46, 407441.
Simeonsson, R. J., & Boyles, E. K. (2001). An ecobehavioral approach in clinical assessment. In R. J. Simeonsson & S. L. Rosenthal (Eds.), Psychological and
developmental assessment: Children with disabilities
and chronic conditions (pp. 120140). New York:
Guilford Press.
Simeonsson, R. J., Leonardi, M., Bjorck-Akesson, E.,
Hollenwger, J., & Lollar, D. (2003). Applying the
International Classification of Functioning Disability
and Health to measure childhood disability. Disability
and Rehabilitation, 25(1112), 602610.
Simon, T. D., Lamb, S., Murphy, N. A., Horn, B., Walker,
M. L., & Clark, E. B. (2009). Who will care for me
next? Transitioning to adulthood with hydrocephalus.
Pediatrics, 124(5), 14311437.
Singh, S. M., Douglas, P. S., Reddy, V. Y. (2011). The incidence and long-term clinical outcome of iatrogenic
atrial septal defects secondary to transseptal catheterization with a 12F transseptal sheath. Circulation.
Arrhythmia and Electrophysiology, 4, 166171.
Slickers, J. E., Olshan, A. F., Siega-Riz, A. M., Honein,
M. A., Aylsworth, A. S. for the National Birth Defects
Prevention Study (2008). Maternal body mass index
and lifestyle exposures and the risk of bilateral renal
agenesis or hypoplasia. American Journal of Epidemiology, 168(11), 12591267.
Smith, E. S., Dafoe, C. S., Miller, J. R., & Banister, P.
(1977). An epidemiological study of congenital reduction deformities of the limbs. British Journal of Preventive & Social Medicine, 31, 3941.
Stedman, T. L. (2000). Stedmans medical dictionary (27th
ed.). Philadelphia: Lippincott Williams & Wilkins.
Stevens, M. V., Broka, D. M., Parket, P., Rogowitz,
E., Vaillancourt, R. R., & Camenisch, T. D. (2008).
MEKK3 initiates Transforming Growth Factor
2-dependent epithelial-to-mesenchymal transition
during endocardial cushion morphogenesis. Circulation Research, 103(12), 14301440.
306
Symonds, M. E. (2010). EpigenomicsGrand challenge:
Much more than the developmental origins of adult
health and disease. Frontiers Genetics, 1, 12.
Thiele, H., Kaulfersch, C., Daehnert, I., Schoenauer, M.,
Eitel, I., Borger, M., & Schuler, G. (2009). Immediate
primary transcatheter closure of postinfarction ventricular septal defects. European Heart Journal, 30,
8188.
Tsai, J. Y., Berkery, L., Wesson, D. E., Redo, S. F., &
Spigland, N. A. (1997). Esophageal atresia and tracheoesophageal fistula: Surgical experience over
two decades. The Annals of Thoracic Surgery, 64,
778783.
Van Son, J. A. M., Konstantinov, I. E., & Zimmermann,
V. (2001). Wilhelm Ebstein and Ebsteins malformation. European Journal of Cardio-Thoracic Surgery,
20, 10821085.
Virtanen, H. E., & Toppari, J. (2008). Epidemiology and
pathogenesis of cryptorchidism. Human Reproduction
Update, 14(1), 4958.
Vygotsky, L. S. (1978). Mind and society: The development of higher mental processes. Cambridge: Harvard
University Press.
D. Hollar
Wilcox, A. J. (2001). On the importanceand the unimportanceof birth weight. International Journal of
Epidemiology, 30(6), 12331241.
Wilson, E. O. (1975). Sociobiology: The new synthesis.
Cambridge: Harvard/Belknap.
Wilson, E. O. (1998). Consilience: The unity of knowledge. New York: Knopf.
Wolpert, L., Tickle, C., Lawrence, P., Meyerowitz, E.,
Robertson, E., Smith, J., & Jessell, T. (2011). Principles of development (4th ed.). New York: Oxford
University Press.
World Health Organization (WHO). (2001). International
classification of functioning, disability and health
(ICF). Geneva: World Health Organization.
Yang, C. J., Stone, P., & Stewart, A. W. (2006). The epidemiology of recurrent miscarriage: A descriptive
study of 1214 prepregnant women with recurrent miscarriage. The Australian & New Zealand Journal of
Obstetrics & Gynaecology, 46, 316322.
Using Population-Based Survey

Data to Monitor the Health of
Children and Youth with Special
Health Care Needs and Disabilities
16
Willi Horner-Johnson and Kathleen Newton
Abstract
Population-based surveys serve as a key source of information about a

range of health issues. Children and youth with special health care needs
(CSHCN) or disabilities have been less visible in these efforts. However,
a number of large-scale surveys over the years have captured health data
that include and identify children, adolescents, and young adults with disabilities and/or special health care needs (SHCN). Such surveys provide
a valuable window on the tremendous diversity of health conditions that
may impact individuals from early development through adolescence and
adulthood, as well as the many factors that can facilitate or hinder positive
health and well-being.
In this chapter, we describe in detail several CSHCN national health
surveys, including the National Survey of Children with Special Health
Care Needs (NS-CSHCN), National Survey of Childrens Health (NSCH),
National Longitudinal Study of Adolescent Health (Add Health), National
Health Interview Survey (NHIS), National Education Longitudinal Study
of 19882000 (NELS:88), Youth Risk Behavior Surveillance System
(YRBSS), and the Medical Expenditure Panel Survey (MEPS). Across
these and other data sources, children and youth with SHCN or disability
appear to be at greater risk for a range of health problems as well as unmet
health care needs. Population-based data are crucial not only for identifying these problems, but also for tracking the success of efforts to address
them.
Abbreviations
Add Health National Longitudinal Survey of Adolescent Health

ADLs Activities of Daily Living
W. Horner-Johnson () K. Newton
Child Development and Rehabilitation Center,
Oregon Health and Science University,
707 SW Gaines Street, Portland, OR 97239, USA
e-mail: hornerjo@ohsu.edu
307
308
AHRQ Agency for Healthcare Research and Quality

CATI Computer-Assisted Telephone
Interviews
Care Needs
DRC Data Resource Center (for
Child and Adolescent Health)
ECLS Early Childhood Longitudinal
Studies
ELS:2002 Education Longitudinal Study
of 2002
FPG Federal Poverty Guidelines
ICPSR Interuniversity Consortium for
Political and Social Research
IDEA Individuals with Disabilities
Education Act
IRB Institutional Review Board
MCHB Maternal and Child Health
Bureau (of the U.S. Health
Resources Services Administration)
MEPS Medical Expenditure Panel
Survey
NCES National Center for Education
Statistics
NCHS National Center for Health Statistics
NELS:88 National Education Longitudinal Study of 1988
NHANES National Health and Nutrition
Examination Survey
NHIS National Health Interview Survey
NIS
National Immunization Survey
NSCH National Survey of Childrens
Health
NS-CSHCN National Survey of Children
Needs
SHCN Special Health Care Needs
SLAITS State and Local Area Integrated Telephone Survey
YRBS/ Youth Risk Behavior Survey
YRBSS
W. Horner-Johnson and K. Newton
16.1Introduction
The health and well-being of children and youth
in the United States has received considerable
attention within the field of public health. This
attention has taken the form of Federal initiatives, development of data systems, and an ever-growing body of research (Irwin etal. 2002).
Children and youth with special health care needs
(SHCN) or disabilities have been less visible in
these efforts. However, a number of large-scale
surveys over the years have captured health data
that include and identify children, adolescents,
and young adults with disabilities and/or SHCN.
Such surveys provide a valuable window on the
tremendous diversity of health conditions that
may impact individuals from early development
through adolescence and adulthood, as well as
the many factors that can facilitate or hinder positive health and well-being.
Population-based surveys serve as a key
source of information about a range of health issues. Population-based surveys rely on random
selection of a sample of individuals from a population, allowing generalization of survey findings to the broader population from which survey
participants were selected (Buehler 2008). This
is in contrast to practice-based or convenience
samples, which can provide crucial information
about a particular subset of individuals, but with
the caveat that the sampled individuals may or
may not be similar to others in the population.
Population-based surveys provide prevalence
estimates for a number of health characteristics,
risks, and outcomes in the population in question
(Buehler 2008). As such, relevant surveys are essential tools for development of sound programs
and policy related to the well-being of children
and youth. In addition to overall population estimates, these data allow comparisons among subgroups of children and youth. Repeated or ongoing collection of such data is critical not only for
identifying problems that need to be addressed,
but also for tracking progress in reducing health
risks in the general youth population or in specific subpopulations (Kalsbeek 2004).
Population health surveys make use of several different approaches, depending on the study
16 Using Population-Based Survey Data to Monitor the Health of Children and Youth
population and goals of the survey. Many surveys

are cross-sectional, meaning that they collect data
from a sample only one time. Cross-sectional
data sources provide a snapshot of a population
at a particular point in time (Gordis 2000). Other
surveys are longitudinal, with the same group of
subjects surveyed more than once during a period
of time, allowing analysis of changes over time
within the same sample (Gordis 2000). Some
cross-sectional surveys are repeated periodically, but are not considered longitudinal because
each sample is drawn independently of previous
samples. Surveys designed for the purpose of estimating or predicting population characteristics
necessitate use of scientific random sampling
methods to select children, students, or families
as participants. The data are then adjusted by
assigning case weights so that weighted results
approximate the full population from which the
sample was drawn (Kalsbeek 2004).
Ability to track health risks at a population
level is important in addressing key public health
initiatives. For example, Healthy People 2010
2000) highlighted the health of young people with
disabilities in Objective 62: Reduce the proportion of children and adolescents with disabilities who are reported to be sad, unhappy, or depressed. Often, survey data inform initial development of goals such as these by bringing to light
the existence of problems requiring attention.
Survey data also contribute to the achievement of
the goals by providing information about youth
most at risk. Lastly, progress toward the goals is
monitored by using survey data to track changes
in the proportion of children and youth experiencing the target health problems (Kalsbeek 2004).
This chapter discusses some of the issues involved in measuring health of children and youth
with SHCN and disabilities, and reviews some of
the available data sources for tracking the health
of this population group.
16.1.1Case Definition
Identifying children and youth with SHCN or
disabilities in national surveys presents certain
309
challenges. For one thing, there is considerable

variation in terminology and focus. Currently,
the three main perspectives on ascertainment of
SHCN and disability in children and youth are:
(1) assessment of specific diagnoses or conditions, (2) measurement of functional or activity limitations, and (3) identification of elevated
health care needs resulting from ongoing health
conditions (Newacheck et al. 1998). The latter
two approaches share a common focus on assessing impact on an individuals life regardless
of the underlying causes. Each of the above approaches results in identification of a different
subset of individuals, although there is likely to
be overlap between them.
Additional issues are involved in operationalizing these perspectives for data collection.
For example, items used to identify functional
limitations vary considerably from one survey to
another. Functional questions may focus on limitations in certain types of activities, need for assistance with activities of daily living (ADLs), or
impairments in particular body parts. In self-report formats, questions of perception and identity
may also be included. For instance, youth may be
asked whether they think of themselves as having a disability or whether other people perceive
them as having a disability.
In contrast, the need-based approach has yielded much greater consistency. This assessment approach is the culmination of years of concerted
effort by leaders in the field of maternal and child
health who sought a definition of children with
special health care needs (CSHCN) that could be
used to facilitate development of comprehensive,
integrated community-based health services for
children with chronic health conditions and their
families. To this end, a work group established by
the Maternal and Child Health Bureaus (MCHB)
Division of Children with Special Health Care
Needs developed this definition of CSHCN:
Children with special health care needs are those
who have or are at increased risk for chronic physical, developmental, behavioral, or emotional conditions and who also require health and related
services of a type or amount beyond that required
by children generally (McPherson et al. 1998,
p.138).
310
Several instruments were subsequently devised

to operationalize this broad-based, outcomedriven definition of CSHCN, among them the
CSHCN Screener (Bethell et al. 2002b). Developed by the Child and Adolescent Health
Measurement Initiative (CAHMI), the CSHCN
Screener consists of five items, each assessing a specific category of health consequences:
(1) need for or use of prescription medications; (2) need for or use of specialized therapies (e.g., physical, occupational, or speech
therapy); (3) above-routine need for or use of
medical, mental health, or educational services;
(4) need for or use of treatment or counseling for
emotional, behavioral, or developmental problems; and (5) limited ability to do things most
children of the same age can do. Each item, if
true, is followed up with questions to establish:
(1) whether the consequence is attributable to
a medical, behavioral, or other health condition1 and (2) whether the underlying condition
has or is expected to last for 12 months or more
(Bethell et al. 2002b). Although the CSHCN
Screener requires positive responses on at least
one of the five items and its follow-up questions, many CSHCN qualify on multiple items.
The CSHCN Screener has demonstrated strong
agreement with a longer measure, the Questionnaire for Identifying Children with Chronic
Conditions (QuICC)Revised (Bethell et al.
2002a) and has subsequently been tested for reliability across surveys with varying methodologies (Bethell etal. 2008) and for internal validity (Bramlett etal. 2009; Carle etal. 2010). This
instrument is currently used in several national
child and household population health surveys
(Bethell etal. 2002a, b).
Another consideration in case identification
is the source of reports on childrens conditions,
functional limitations, or increased health needs.
Some surveys collect data specifically about children from birth through 17 years of age, typically
relying on parents or other caregivers as infor1
The one exception is the fourth item, which includes the

type of underlying condition (emotional, behavioral, or
developmental problems) in the stem question, followed
by the question about duration.
mants for their children. These reports may or

may not be verified by other informants or by
medical or administrative records. Questions
about children and youth are sometimes included
in household surveys in which one respondent
provides information about some or all of the
individuals living in their household. Surveys of
older children and youthusually in the middle
school to high school age rangeoften collect
data directly from the youth themselves, sometimes supplemented with input from peers, parents, teachers, or other sources.
Given the diversity of data sources and measurement strategies, this chapter takes a broad approach to discussing health data available from
surveys assessing either SHCN or functional disabilities.
16.1.2Defining Health
Throughout much of recent history, disability
has been perceived as equivalent to poor health
(Drum 2009). In recent decades, there have been
efforts to distinguish among constructs such as
disability, function, and health (Krahn et al.
2009). The current view in the disability field
is that one can be disabled and also experience
good or excellent health (U.S. Department of
Health and Human Services 2005). Important
in this view is the recognition that many of the
health problems experienced by people with disabilities are preventable (Simeonsson and Leskinen 1999). Many surveys group questions about
function together with questions assessing health,
reflecting a more traditional view of function as
a component of health. However, in the context
of this chapter, functional ability questions are
treated as a means of identifying a population of
interest, rather than as a measure of health status.
Even though special health care needs are defined by the consequences of childrens health
conditions, as in the CSHCN Screener, many
CSHCN enjoy very good or excellent health.
This is aptly illustrated in results from the 2007
National Survey of Childrens Health (NSCH).
Nationwide, only 11.0% of all CSHCN were
described by their parents as having fair or poor
health, while more than two-thirds (69.2%) enjoyed very good or excellent health. Within the
subpopulation of CSHCN who had functional
limitations as defined by the CSHCN Screener,
substantially more experienced very good or excellent health (43.9%) than had fair or poor health
(26.6%) (Data Resource Center for Child and
Adolescent Health (DRC), online data query).
These data illustrate that having a functional limitation or even a health condition is not synonymous with poor health. Thus, in this chapter, we
separate identification of CSHCN or functional
limitations from measurement of health status.
Health indicators in surveys (separate from
function or CSHCN identifiers) can cover a wide
range of topics. Overall health is often measured
using a single question asking whether ones
health is excellent, very good, good, fair, or
poor. More specific questions about physical and
mental health may ascertain the frequency, duration, and severity of illnesses, and (especially
for adolescents) feelings of depression or suicidal
ideation. Health can also be considered to include
fulfillment of age-appropriate roles (e.g., school
attendance, transition to adulthood) as well as
performance of healthy behaviors and avoidance
of risky behaviors (Raphael 1996). Surveys in
which parents provide information about their
children may additionally address developmental concerns, oral health, accidents and injuries,
missed school days, behavioral and social issues,
parents emotional and physical health, or other
more focused topics.
16.2Major Sources of Data

Many of the major US population health surveys
of children and youth are funded and/or conducted by federal agencies. Several relevant surveys
are overseen by the National Center for Health
Statistics of the Centers for Disease Control
and Prevention (CDC). In addition, CDCs National Center for Chronic Disease Prevention and
Health Promotion conducts a nationwide Youth
Risk Behavior Survey (YRBS). Another important source of child and youth population-based
data, the National Center for Education Statistics
311
(NCES), is an agency of the U.S. Department of

Educations Institute of Education Sciences. The
NCES manages a host of surveys on early childhood, as well as elementary, secondary, and postsecondary education. The Agency for Healthcare
Research and Quality (AHRQ), an agency of the
U.S. Department of Health and Human Services,
manages several surveys on health care access,
utilization, and expenditures, including the Medical Expenditure Panel Survey described later in
this chapter.
There are also some nonfederal groups conducting nationwide population-based research.
One example is the Carolina Population Center at the University of North CarolinaChapel Hill, which conducts a massive longitudinal
study of youth (now young adults) who were
in grades 712 when the study was initiated in
1994. Known as Add Health, the survey is funded
jointly by two dozen federal agencies and private
foundations, led by the National Institute of Child
Health and Human Development.
16.2.1History of SHCN and Disability

Measurement Within Surveys
The history underlying the inclusion of SHCN
and disability questions in population-based surveys is as varied as the surveys themselves. Survey items have been developed to serve a range
of needs and have been shepherded into existence
by events as sweeping as national legislation and
as personal as the commitment of dedicated individuals. We present here a handful of the stories
behind the data.
The National Survey of Children with Special Health Care Needs (NS-CSHCN) was conceived out of the need for reliable and comparable state-level data to facilitate allocation of
federal funds to states (McPherson etal. 1998).
Since 1935, Title V of the Social Security Act has
provided funds to states for services to children,
of which 30% are earmarked specifically for children with complex health care needs (van Dyck
et al. 2002). For many years CSHCN planning
was based on lists of specific health conditions
or functional disabilities, which differed from
312
state to state (van Dyck etal. 2002). However, as

the epidemiology of chronic conditions in children has increased in complexity, so has the difficulty of assessing the prevalence of and health
care needs of CSHCN (McPherson etal. 1998).
In response to these changes, the U.S. Maternal
and Child Health Bureau developed a broad and
inclusive new definition of special health care
needs (McPherson et al. 1998), which laid the
groundwork for a national system of data collection to aid states in needs assessment and planning for CSHCN. Two new surveys were commissioned by the Maternal and Child Health Bureau to conduct this research: the National Survey of Children with Special Health Care Needs
(van Dyck etal. 2002) and the National Survey of
Childrens Health (van Dyck etal. 2004).
The impetus for inclusion of disability identifiers in education surveys was provided by passage
of the Education for All Handicapped Children
Act of 1975, later reauthorized as the Individuals
with Disabilities Education Act (IDEA). With the
mandate to provide programs and services to students with disabilities came the need for data on
the prevalence, characteristics, educational experiences, and transition outcomes of these students
(Rossi etal. 1997). Subsequently, disability identifiers have been included in a variety of surveys
conducted by NCES.
Similarly, the catalyst for the development of
the National Health Interview Survey on Disability (NHIS-D) was the Americans with Disabilities Act, signed into law in 1990. National data
on disability were needed to inform ensuing policies and reforms. To meet that need, four Federal offices collaborated on the development of
the NHIS-D: (1) Office of the Assistant Secretary
for Planning and Evaluation, Health and Human
Services; (2) Office of Supplemental Security
Income, Social Security Administration (SSA);
(3) Office of Disability, SSA; and (4) Bureau of
Maternal and Child Health, Health Resources
Administration (CDC 2009a). The NHIS-D supplement was designed to measure disability from
social, administrative, and medical perspectives.
The data collected have been used to develop
disability prevalence estimates, provide baseline
data on the health of people with disabilities, and
inform public health policy (CDC 2009a). The

NHIS now includes a smaller set of disability
questions in its annual survey.
In some cases, the work of a key individual
has been instrumental in efforts to provide disability data. One such person is Barbara Altman, the mother of a son with a disability who,
while employed at the AHRQ, worked tirelessly
to add a set of functional disability questions to
the Medical Expenditure Panel Survey (MEPS).
Although the resulting survey items represent approximately half of the questions she hoped to
include (Altman 2009), they continue to provide
a rich source of data on the health and health care
experiences of children, youth, and adults with
disabilities.
The introduction of items about disability and
CSHCN in local and state surveys for the Youth
Risk Behavior Surveillance System (YRBSS)
has occurred on a state-by-state basis. In 1999,
Oregon became one of the first states to include
such items. The Oregon Office on Disability
and Health subsequently became interested in
this data source and, with support from a CDC
grant, has funded disability-related questions in
the 2004, 2006, and 2008 Oregon surveys. The
most recent set of items (included in 2006 and
2008) was developed in consultation with the
Oregon Center for Children and Youth with Special Health Needs. Washington, North Carolina,
Ohio, and Montana are among the other states
that have each gone through their own process
of developing and funding state YRBS questions
about disability and CSHCN (Hollar 2005; D.
Hollar, October 2010, personal communication).
16.2.2Overview of Population
Surveys with Data on Children
and Youth with SHCN
While a description of all of the available datasets is beyond the scope of this chapter, some
of the surveys most commonly used in studying
children and youth with SHCN are described
below. A summary of these data sources is shown
in Table16.1. More detailed information is provided in the following text:
Civilian noninCivilian noninstitutionalized residents of stitutionalized

residents of the
the United States
United States
Noninsitutionalized
children between
the age of 0 and17
years, nationwide
and within each state
and the District of
Columbia
Self-administered
Self-administered
questionnaire, personal questionnaire,
Telephone interview
interview
(CATI), personal
interview (CAPI)
Self-administered
questionnaire, conducted in classrooms
Parent or other
adult in household
who is familiar
with childs health
Personal interview
(CAPI)
Parent or other adult
in household who is
familiar with childs
health
Personal interview
(CAPI)
in household who is
health
Telephone interview
(CATI)
in household who is
health
Telephone interview
(CATI)
Youth (self report);

parents, teachers,
school administrator
Mode of
administration
Longitudinal
Cross-sectional
Cross-sectional
Cross-sectional
U.S. population
U.S. population
Children and youth
Children and youth

who have special
health care needs as
defined by MCHB
Noninsitutionalized
CSHCN between
the age of 0 and 17
years, nationwide
and within each state
and the District of
Columbia
MEPS
Agency for Health
care Research
and Quality, U.S.
Department of
Health & Human
Services
NHIS
National Center for
Health Statistics,
Centers for Disease
Control & Prevention, U.S. Department
of Health & Human
Services
NSCH
National Center for
Health Statistics,
Centers for Disease
Control & Prevention, Department of
Health & Human
Services
NS-CSHCN
National Center for
Health Statistics,
Centers for Disease
Control & Prevention, U.S. Department
of Health & Human
Services
Longitudinal
Youth (self report),

parents, peers, school
administrator
Longitudinal
Students enrolled in
Cohort of individuals
8th grade
who were students in
grades 712 during
19941995 school year
Youth (self report)
Public and private

high school students
nationwide and in
participating states
or other jurisdictions
(national sample
independent of state/
local samples)
Cross-sectional
NELS:88
National Center for
Education Statistics,
Institute of Education Sciences, U.S.
Department of
Education
Youth and young adults Youth and young

adults
Add health
Carolina Population
Center, University of
North Carolina
Study
design
Informant
Sample
Available
from
YRBSS
Adolescent & School
Health Division,
National Center for
Chronic Disease
Prevention & Health
Promotion, Centers
for Disease Control
& Prevention, U.S.
Department of Health
& Human Services;
state & local
jurisdictions
Population High school students
Table 16.1 Summary of major CSHCN data sources
313
Time
frames
Response
rates
Sample
sizes
Sampling
methods
Add health
Nationwide stratified
cluster sample of 80
high schools and each
high schools feeder
middle schools
NELS:88
Clustered, stratified
national probability
sample of 1,052
public and private 8th
grade schools, with
randomly selected
8th graders from each
school
24,500 students at
baseline; 10,827 with
data from all 5 waves
NS-CSHCN
NIS sampling
frame and SLAITS;
one-stage stratified
random sample;
strata are states; one
CSHCN selected
from each qualifying
household selected
20052006: 40,073
132 schools in 80
CSHCN interviewed
communities; 20,745
(850 per state);
students in original
363,183 children
sample (selected from
screened, including
90,118 who completed
55,767 CSHCN;
written survey); 15,701
191,640 housein Wave IV (2008)
holds with children
between the age of 0
and 17 years; 4,945
non-CSHCN referent
sample (no state
identifier)
20052006 CSHCN
2009 National YRBS: Wave I: 78.9%, Wave Schools: Base Year
screener79%; inter69.7% (102% after
II: 88.2%, Wave III:
school rate81%;
replacement of nonre- view56%; referent
77.4%, Wave IV:
student rate88%;
sample50%2001
sponsive schools);
80.3%
overall rate71%.
CSHCN
~99% F1 & F2.
State and local survey
Individuals: 92-99% screener63%;
response rates vary
(BY), 9097% (F1), interview61%
8898% (F2), 91%
(F3), 83% (F4)
Every 4 years: 2001,
Baseline in 1988;
Biannually beginning Four waves, 1994
2005, 2009
follow-up in 1990,
in 1991
2008; Wave III
1992, 1994, and 2000
parents and school
administrators survey
(19941995); Wave
IIIIV romantic
partners of participants
interview (20012002)
YRBSS
National: three-stage
cluster sampling,
with oversampling of
Black and Hispanic
students. State
and local surveys:
two-stage cluster
sampling
2009 National YRBS
sample included
16,410 students.
Local samples vary
in size
2009 NHIS final

response rates:
sample child
73.4%; family
component81.6%;
household82.2%
Annually since 1957
2007 NSCH47%
overall response
rate; state range:
39%62%2003
NSCH55% overall
response rate; state
range: 50%64%
Every 4 years: 2003,
2007; 2011
NHIS
Multistage probability sample with
oversample of Black,
Hispanic and Asian;
strata are states; one
child selected from
each qualifying
household
2007: 91,642 children 2009: 11,156 sample
child; 27,731 sample
between the age
adult; 33,856 houseof 0 and 17 years
hold-level, 34,640
(1,800 per state);
20% CSHCN2003: family-level, 88,446
person-level
102,353 children
between the age of 0
and 17 years (2,000
per state); 17.6%
CSHCN
NSCH
NIS sampling
frame and SLAITS;
one-stage stratified
random sample; strata
are states; one child
selected from each
qualifying household
Annually since
1996 (overlapping panels are
enrolled for 2.5
years each)
2008 overall
response rate:
59.3%
2008: 31,262
persons in 12,316
families
MEPS
Sampled from
previous years
NHIS respondents
314
Purpose
Disability/
special
needs
identifiers
Health
topics
NHIS
Health status, health
care utilization,
injuries, health insurance, access to care,
selected health conditions, immunizations;
special supplements
on cancer, CAM, etc.
Self reportfunctional difficulty, need

assistance with ADLS,
consider self to have
a disability, others
consider youth to have
disability
CSHCN screener;
functional status
20022009: activity
limitations, underlying health condition,
and duration of
underlying condition; use of special
equipment, prescription medications;
disability
Monitor the health
Collect data to explore Learn about the edu- Estimate prevalence Complement the
the influences of both cational, vocational, of CSHCN by state; NS-CSHCN; provide of the US population
by providing data to
national and statethe individual attributes and personal develop- provide informatrack health status,
level information
tion on health and
ment of students at
of respondents and
health care access,
about a broad range
functional status,
various stages in
the attributes of their
and progress toward
of childrens health
need for and use of
various environments their educational
achieving national
and related issues;
health services, and
careers, and the
on health and healthhealth objectives
system-of-care short- provide estimates
personal, familial,
related behavior
comings experienced for federal and state
social, institutional,
by CSHCN; provide Title V maternal and
and cultural factors
estimates for federal child health needs
that may affect that
assessment and perand state Title V
development
needs assessment and formance measures,
Healthy People
performance measures and for Healthy objectives
People objectives
NSCH
Health status,
selected health
conditions, health
insurance, access to
care, quality of care
and medical home,
parent health, family
functioning, child
care, school concerns,
community activities, neighborhood
environment
Self reportany
physical disabilities or long
term (6 months
or more) health
problems2005
national; some states
include various
versions
Measure the prevalence of health-risk
behaviors among students; assess trends
in these behaviors;
examine the cooccurrence of health-risk
behaviors
NS-CSHCN
Health status,
selected health
conditions, health
insurance coverage
and adequacy, access
to care, unmet needs,
quality of care, care
coordination, getting
referrals and specialist care, medical
home, transition to
adulthood, impact on
family
CSHCN screener;
Parent report at
baseline of functional functional difficuldifficulties associated ties; specific health
with receipt of related needs (e.g., equipment, medication,
services; other selfspecial therapies)
reported identifiers
inconsistent between
years
NELS:88
Health behaviors:
alcohol, tobacco and
other drug use, sexual
behaviors
Add health
Self-reported health,
chronic conditions,
mental health, health
services access and
utilization, physical
activity, diet, substance
use, violence, sexual
behavior
YRBSS
Health-risk behaviors
including: injuries
and violence, tobacco
use, alcohol and other
drug use, risky sexual
behaviors, dietary
behaviors, and physical activity, obesity,
and asthma
Collect data on
specific health
services Americans use, how
frequently they
use them, cost of
these services,
and how they are
paid for
CSHCN screener;
ADL/IADL limitations; limitations in physical
functions, vision,
hearing, cognition; limitations in
work, schoolwork
MEPS
Health conditions,
health status,
use of medical
services
315
Information
sources
Centers for Disease

Control and Prevention. Methodology
of the Youth Risk
Behavior Surveillance System.
MMWR 2004; 53
(No.RR-12): 114
YRBSS
Dataset
National datasets
description downloadable from
CDC website in
ASCII, SPSS, SAS,
and Access formats.
Contact sites to
request state or local
data
Several user guides

available at http://
www.cpc.unc.edu/
projects/addhealth/
data/guides/
Add health
Download public use
files from ICPSR
website (free but login
required) or request
CD-ROM from Sociometrics Corporation
for a fee
NELS:88
Public data downloadable through
EDAT in SPSS, Stata,
SAS, R, S-Plus,
SUDAAN, ASCII, or
CSV formats. May
request CD-ROM of
public or restricted
data
Curtin etal. (2002).
National Education
Longitudinal Study
of 1988: Base-Year
to Fourth Follow-up
Data Users Manual
(NCES 20022323).
Washington: NCES,
Department of
Education
MEPS
Public use files
downloadable
from AHRQ
website in ASCII
or SAS transport
format
AHRQ (2010).
MEPS HC-121
2008 full year
consolidated data
file. Rockville:
AHRQ (Similar
documentation
files, as well
as codebooks,
available for each
dataset)
NHIS
Microdata files with
case weights totaling US population;
released 6 months
after data collection
is completed
National Center for

Health Statistics.
Summary of health
statistics for US
children: National
Health Interview
Survey, 2009. Vital
and Health Statistics,
10:247 December
2010
NSCH
case weights; download raw datafile
from NCHS SLAITS
web page, or request
DRC Indicator Dataset from DRC www.
nschdata.org
CDC. Summary of
current surveys and
data collection systems. National Center
for Health Statistics,
June 2010. http://
www.cdc.gov/nchs/
data/infosheets/info
sheet_summary1.pdf
NS-CSHCN
case weights; download raw datafile
from NCHS SLAITS
web page, or request
DRC Indicator Dataset from DRC www.
cshcndata.org
CDC. Summary of
current surveys and
data collection systems. National Center
for Health Statistics,
June 2010. http://
www.cdc.gov/nchs/
data/infosheets/info
sheet_summary1.pdf
316
16.3Child-Focused Surveys
317
CSHCN Core Outcomes- Key Measures of Performance
16.3.1National Survey of Children

Families of children and youth with special health care
The NS-CSHCN is a nationwide telephone survey sponsored by the MCHB and conducted by
the CDCs National Center for Health Statistics
(NCHS), using the State and Local Area Integrated Telephone Survey (SLAITS) system. The survey was first administered in 2001 and repeated
in 20052006. Data from the third round, begun
in 2009, were released in 2011 (CDC 2011b).
The purpose of the NS-CSHCN is to estimate the prevalence of special health care needs
among children within each state, to describe
the health and health care needs of CSHCN and
their families, and to understand how the current
system of care can be improved in order to meet
those needs (van Dyck etal. 2002). The survey
provides baseline estimates for federal and state
Title V performance objectives, national Healthy
People goals, and state Title V needs assessments, as well as serving as a resource for child
health researchers, advocates, and other groups
(van Dyck etal. 2002).
The NS-CSHCN is conducted in all 50 states
and the District of Columbia. Using random digit
dialing methods, a sample of households with
children is selected in each state. All children in
each of these households are screened using the
CSHCN Screener. If one child in a household
qualifies, that child is selected to participate in
the survey. In households with more than one
CSHCN, one is selected at random. An in-depth
telephone interview is conducted with the parent
living in the household who is most familiar with
the selected childs health and health care. Survey
results are weighted to represent characteristics
of the noninstitutionalized population between
the age of 0 and 17 years within each state and
the District of Columbia (Blumberg etal. 2008).
The NS-CSHCN provides detailed state- and
national-level parent-reported information on the
health status and health care system experiences
of children and youth with special health care
needs and their families (Blumberg etal. 2003).
Topics covered by the NS-CSHCN questionnaire
include health and functional status, insurance
Children and youth with special health care needs
needs partner in decision making at all levels and are

satisfied with the services they receive;
receive coordinated ongoing comprehensive care within

a medical home;
Families of CSHCN have adequate private and/or
public insurance to pay for the services they need;
Children are screened early and continuously for
special health care needs;
Community-based services for children and youth with
special health care needs are organized so families can
use them easily;
Youth with special health care needs receive the
services necessary to make transitions to all aspects of
adult life, including adult health care, work, and
independence.
Fig. 16.1 MCHB core outcomes for CSHCN. (Source:

Child Health Bureau 2008)
coverage and adequacy of coverage, access to

health care services, medical home, impact of
childrens special needs on their families, familycenteredness of services, and care coordination.
Questions about selected health conditions and
functional difficulties were added to the 2005
2006 interview (DRC 2009).
The NCHS has released data files for each
round of the NS-CSHCN. Screener, Household,
and Interview files are available to the public,
along with a data file that may be used for single
or multiple imputation of missing income category values. Separate data files were released
with insurance data (2001) and a national referent sample of children without special health care
needs (20052006) who were administered the
CSHCN Interview for comparison with CSHCN
outcomes (Blumberg et al. 2008). NS-CSHCN
data files are also available by request from the
DRC (childhealthdata.org). In addition to contents of the NCHS public-use data files, the DRC
datasets include derived variables for six MCHB
core outcome measures pertaining to CSHCN
(see Fig. 16.1), and for national indicators of
318
CSHCN prevalence, health and functional status,

health insurance coverage, health care needs and
access to care, care coordination, family-centered
care, and impact on families of CSHCN (DRC
n.d.a).
Perhaps the greatest strength of the NSCSHCN is that its study population is exclusively children with special health care needs.
As such, it offers an in-depth view of the health
status of CSHCN, their access to health care
services, quality of the health care systems and
services they use, and the impact on families of
caring for a child who has special health care
needs. At the national level, the sample size (approximately 40,000 CSHCN, age 017 years)
permits precise population and point prevalence
estimates as well as detailed multivariate analysis on a wide range of topics. Using contextual
data provided by the Screener and Household
files, the cases are weighted to represent each
states population characteristics, so that statelevel analyses may be conducted, and crossstate comparisons are possible (Blumberg etal.
2003; 2008). Derived variables measure each
of the six MCHB Core Outcomes for CSHCN
as well as 15 additional indicators of CSHCN
health and health care, such as impact of health
on daily activities, adequacy of health insurance,
difficulty getting specialist services, and annual
out-of-pocket medical expenses paid by families
of CSHCN. Results from the first two rounds of
the NS-CSHCN may be compared (with certain
caveats) to identify trends in CSHCN outcomes,
and researchers interested in less common conditions or characteristics may combine surveys to
increase the sample size.
The SLAITS mechanism used for the NSCSHCN relies on sampling from banks of telephone numbers. The rapid replacement of land
lines by cell phones in recent years has raised concerns about whether information gathered from
households with land lines can be truly representative of all households (Blumberg et al.2006).
The NCHS is working on addressing these questions in an effort to adjust sampling and weighting
methods to correct selection bias (CDC 2009b).
In spite of its large national sample size, statistical power for state-level multivariable analysis
is somewhat limited; in 20052006, about 750

interviews were conducted in each state. Confidentiality policies of the NCHS require that substate geographical identifiers (county, zip code,
etc.) and other variables that could be used to
identify individual respondents are not included
in the public-use files (Blumberg et al. 2008).
Also, some items are not comparable between
2001 and 20052006 because of changes made in
the questionnaire format (Blumberg etal. 2008).
16.3.2National Survey of Childrens

Health
The NSCH is the second of the two National Surveys conducted by the NCHS at the behest of the
MCHB. Like the NS-CSHCN, the NSCH is conducted approximately every 4 years, but beginning in 2003 so that data collection for one of the
two surveys is initiated every 2 years. The second
round of the NSCH was conducted in 2007, and
the third round was fielded in 2011.
Like the NS-CSHCN, the NSCH makes use of
the SLAITS system to select a random sample of
households in each state and the District of Columbia, which are included if anyone living in
the household is under 18 years of age. In households with more than one child, one is randomly
selected to be the subject of an interview with the
parent who is most familiar with the childs health
and health care. Results are weighted to reflect the
population characteristics of children between the
age of 0 and 17 years in each state and the District
of Columbia (Blumberg etal. 2005; in press).
The NSCH questionnaire was designed to
complement the NS-CSHCN by describing
health-related characteristics of all children and
adolescents in the United States (van Dyck etal.
2004). It yields a broad range of information
about childrens health and well-being collected in a manner that allows comparisons among
states as well as nationally. Questionnaire topics include demographics, physical and mental
health status, health insurance, access to and use
of health care services, medical home and quality
of health care, early childhood (05 years) issues, issues specific to middle childhood and
adolescence (617 years), family health and activities, parental health status, and neighborhood
characteristics (Blumberg etal. 2005; in press).
Public-use data files for the NSCH surveys are
available for download from the National Center for Health Statistics and by request from the
Data Resource Center for Child and Adolescent
Health.
Aside from its value as a source of data for
Title V block grants, the NSCH has provided raw
data for countless studies of childrens health status, quality of health care, and family and neighborhood characteristics (DRC n.d.b). The NSCH
complements the NS-CSHCN by offering the opportunity to stratify results based on CSHCN status, type of SHCN, demographic characteristics,
or other results. More than 90 indicator variables,
developed by the DRC in collaboration with the
NCHS, measure aspects of childrens health and
functional status, health insurance, access to and
quality of health services, community and school
involvement, family health and activities, and
neighborhood environment (DRC 2003a, b, c;
DRC 2007a, b, c). The NSCH has many of the
same strengths as the NS-CSHCN, including
a large national sample, case weighting to state
population characteristics, multiple rounds of
data collection, and highly sophisticated methods.
Like the NS-CSHCN, state-level multivariable analysis of NSCH data is somewhat limited,
and some variables are restricted or modified
to protect confidentiality. Changes made in the
2007 questionnaire resulted in limited comparability between 2003 and 2007 results for some
items.
16.4Youth-Focused Surveys
16.4.1National Longitudinal Study of
Adolescent Health (Add Health)
The Add Health study is conducted by the Carolina Population Center of the University of North
Carolina at Chapel Hill, with primary funding
from the Eunice Kennedy Shriver National Institute of Child Health and Human Development. It
is the largest longitudinal survey of adolescents
319
ever undertaken in the United States (Carolina

Population Center n.d.). The Add Health survey
was initiated in 1994 in response to a US Congressional mandate to study adolescent health.
The earlier waves of data collection focused
on factors influencing health and risk behaviors among youth, while later waves explored
the connection between adolescent experiences
and behaviors, and the behaviors and health outcomes of early adulthood (Carolina Population
Center n.d.).
The first survey wave began with a questionnaire administered in the school setting to a
nationally representative sample of students in
grades 712. At-home interviews were conducted in 19941995 with a subset of these students.
Follow-up interviews of this smaller group were
conducted in 1996, 20012002, and 20072008
(Harris etal. 2009). The topics addressed include
functional limitations and identification as a person with a disability, chronic conditions, mental
health, health services access and utilization,
physical activity, diet, substance use, violence,
and sexual behavior. In addition to responses
from adolescents themselves, data were collected
from fellow students, school administrators, parents, and romantic partners. Survey data were
supplemented with a picture vocabulary test in
Waves I and III, and by biomarker collection in
Waves III and IV. Survey responses have also
been linked to external data sources providing information about neighborhoods and communities
(Harris etal. 2009).
Add Health has significant strengths as a data
source. It provides a wealth of information about
adolescent health, as well as personal, family,
school, and community factors associated with
various health behaviors and health risks. The
longitudinal design allows study of health trajectories from adolescence into adulthood (Carolina
Population Center n.d.). However, Add Health is
based on a single cohort of individuals who were
adolescents in 19941995. Findings may not be
generalizable to youth in more recent years. In
addition, the sampling was school-based; thus
results may not apply to youth not enrolled in
school (Ford etal. 1999).
320
Public-use data can be accessed through the

Interuniversity Consortium for Political and
Social Research (ICPSR). A link to the ICPSR
site is available on the Add Health website. New
users must create an account, after which they
can log in to the ICPSR site and download data.
There is also a tool for analyzing data online
(login required) without downloading datasets.
To access more extensive restricted-use data,
users must have an IRB-approved security plan
for handling and storing sensitive data and must
sign a data-use contract agreeing to keep the data
confidential. Additional details, including a link
to contract application materials and forms, are
available on the Add Health website: http://www.
cpc.unc.edu/projects/addhealth.
16.4.2National Education
Longitudinal Study of 1988
(NELS:88)
The NELS:88 is one of a series of longitudinal studies conducted by the NCES to provide
data on the educational, vocational, and personal development of young people transitioning into adult roles (NCES n.d.b). The series
began with the National Longitudinal Study of
1972 and continued with the High School and
Beyond longitudinal survey (begun in 1980)
and the NELS:88. Another study in the series,
the Education Longitudinal Study of 2002 (ELS:
2002), is currently underway. Follow-up data
for the ELS:2002 have thus far been collected in
2004 and 2006, with additional data collection
planned for 2012 (NCES n.d.a). More recently,
the High School Longitudinal Study of 2009 collected a first wave of data from more than 21,000
ninth graders who will be followed through 2021
(NCES n.d.c). This series of studies allows comparisons of youth across generations and time
periods, as well as longitudinal analyses within
cohorts.
The NELS:88 is the most recent study in the
series for which data collection has now been
completed. It began in 1988 with a survey of a
nationally representative sample of eighth graders. Follow-up surveys were conducted in 1990,
1992, 1994, and 2000 with a sample of the original respondents (NCES n.d.d). Data collection
included surveys of the students themselves, as
well as their parents, teachers, and schools. While
the focus of the surveys was on issues related to
education, some health-related topics (e.g., tobacco, alcohol, and drug use) were also included
(Hollar and Moore 2004).
The base year of NELS:88 used a two-stage
stratified national probability sample of 1,052
public and private eighth grade schools, with randomly selected eighth graders from each school
in the sample (Curtin etal. 2002). In addition to
following these youth for the next several years,
the 1990 and 1992 samples were freshened
with additional students to provide national
cross-sections of 10th graders (in 1990) and 12th
graders (in 1992; Curtin etal. 2002). Base Year
(1988) and first follow-up (1990) data collection
relied on written surveys. The second and third
follow-up surveys were conducted primarily as
computer-assisted telephone interviews (CATI).
The final follow-up survey utilized CATI, combined with computer-assisted personal interviews
(CAPI) where in-person follow-up was required
(NCES n.d.e). In some waves, survey data were
supplemented with cognitive tests and school
transcripts (Curtin etal. 2002).
There are multiple methods of identifying
youth with disabilities in the sample (Rossi etal.
1997). The most comprehensive set of questions
was asked of parents in the base year survey.
Teachers were given a more limited set of questions at first follow-up, at which point students
were also asked to self-report disability. At the
second follow-up, students were again asked
to self-identify, and school administrators were
asked a single disability-related question.
Although the NELS:88 used school-based
sampling, surveys of school dropouts were included in the first and second follow-ups (Curtin
etal. 2002). Enrolled students, however, may not
have been included in the sample for a variety of
reasons. Certain types of schools were excluded
from sampling, including Bureau of Indian Affairs schools, special educational schools, area
vocational schools, and Department of Defense
schools for dependents of military personnel
serving overseas. In addition, students were

excluded from participation in the base year
survey if language or physical or mental disability was thought by school officials to preclude
ability to complete the questionnaire. In fact, as
many as half of IDEA-qualifying students may
have been excluded (Hollar 2005; Rossi et al.
1997). At the first follow-up, some of these students were reassessed and a subset of them was
deemed eligible for inclusion and added to the
sample (Curtin etal. 2002).
Public-use data files can be downloaded or
requested on CD-ROM through the NELS:88
website: http://nces.ed.gov/surveys/nels88/. Data
are available for free. More detailed datasets that
include identifiable information are restricted to
licensed users only. Users can apply for a license
electronically through the website.
16.4.3Youth Risk Behavior

Surveillance System
The YRBSS is a set of cross-sectional surveys
used to obtain data on key health risks, as well
as priority health conditions such as asthma and
obesity. This surveillance system was developed
by the CDC, and has two parts: (1) a national survey conducted by the CDC and (2) local surveys
administered by states, tribes, or local education
or health agencies (Brener etal. 2004). Both parts
consist of written surveys administered through
public and private schools. Students complete
the questionnaires anonymously in the classroom
setting. In order to be included in the national
survey, youth must be enrolled in grades 912 in
one of the schools randomly selected to make up
the nationally representative sample. Within each
selected school, classrooms are randomly selected to participate. Only schools with a response
rate of 60% or higher are included in the final
weighted sample (Brener etal. 2004).
The 2005 national survey included an item
asking about any physical disability or long-term
health problem. Thus, youth with both disabilities
and chronic conditions were likely included, with
no ability to make further distinctions among the
respondents. Conversely, youth with nonphysi-
321
cal disabilities were likely not identified by this

question. No disability questions have been included in other survey years (Jones and Lollar,
September, 2010, personal communication).
Local jurisdictions follow similar sampling
methods to obtain data representative of their
particular jurisdictions. Some of these surveys
include middle school students as well as high
school students (Brener etal. 2004). The CDCdeveloped questionnaire template for local surveys does not include questions to identify youth
with SHCN or disabilities. However, state or
local jurisdictions can choose to add questions
for local implementation. As discussed earlier,
some states have added disability/SHCN identifiers in some years. As with the national disability question, some of the state-added items have
combined disability and health problems (Hollar
2005), complicating health assessments of youth
with disabilities.
Aside from the specifics of disability items,
the national and local YRBS surveys share similar strengths and weaknesses. A strength is that
they are based on youth self report. Thus, the resulting data are straight from the horses mouth
so to speak. These cross-sectional surveys are
conducted every other year (Brener etal. 2004).
This means that up-to-date information is available in a timely manner. To the extent that questions are consistent across years, the regular
implementation schedule also provides excellent
data on health trends.
An important weakness is that youth are only
included if they are enrolled in school, attending
the day the survey is administered, and capable
of completing a written survey without assistance
(Jones and Lollar 2008). Furthermore, youth in
special education classrooms are not included
(Horner-Johnson et al. 2003; Jones and Lollar
2008). As with all cross-sectional data, findings
from the YRBS can only be interpreted as associations between variables, not as cause-effect
relationships.
National data are publicly available and can
be downloaded from the CDCs YRBSS website:
http://www.cdc.gov/HealthyYouth/yrbs/index.
htm. The website also includes information on
survey methodology, data users manuals and
322
analysis resources, and publications of YRBS

findings. State and district data files are controlled by the jurisdictions that conducted the
surveys; however, some of these sites have given
the CDC permission to distribute their files to the
public. There is a link on the CDC website for
requesting information about obtaining data from
states or districts.
16.5Household Surveys
16.5.1National Health Interview
Survey (NHIS)
The oldest nationwide population health survey
in the United States, the NHIS was mandated by
the National Health Survey Act of 1956, which
provided for ongoing study of the prevalence
and effects of illness and disability in the United
States The NHIS was implemented the following year and in 1960 was assigned to the CDCs
newly formed National Center for Health Statistics (CDC 2011a). Its value as a public health
tool was demonstrated in its very first year, during a flu epidemic in the fall of 1957, when the
NHIS was able to provide weekly estimates of
the number of incident cases, rather than deaths
(Kovar 2002). In the 1960s, results from the survey were instrumental in formulation of Medicare and Medicaid programs. Over the years, the
NHIS has become established as one of CDCs
major data collection systems, serving as the
main source of population data used for tracking health status, access to health care, and progress toward achieving national health objectives.
Recent examples of population health initiatives
triggered by NHIS findings include development
of the CDCs cervical cancer screening policy,
tracking of Healthy People objectives, and federal monitoring of health insurance coverage
(CDC n.d.).
The NHIS is a cross-sectional household interview survey representing the entire civilian,
noninstitutionalized population of the United
States. Sampling and interviewing are conducted
continuously and public data files are provided
annually. In each state and the District of Columbia, sample households are selected using a mul-
tistage area probability design with oversampling

of households containing individuals who are
Black or Hispanic (beginning in 2000) or Asian
(beginning in 2006). The sample design is updated after each decennial US Census, and currently
permits analysis at the national level, by Census
region (Northeast, Midwest, South, West), and
by state; however, state-level analysis requires
merging data from multiple years in order to obtain reliable results. Sample size for each survey
year is targeted at about 87,500 individuals from
a total of about 35,000 households (CDC 2011a).
The NHIS questionnaire is divided into two
parts: Core questions and Supplements. The
Core questions are in turn administered in four
components: Household, Family, Sample Adult,
and Sample Child (CDC 2011a). The Household
Core and Family Core components collect and
verify demographic information. The Family
Core questionnaire further covers health status
and limitations, injuries, access to and utilization
of health care, health insurance, and financial resources. From the Family Core interviews, a person file is generated with a record for each individual in each participating family and household
(CDC 2011a).
The Sample Adult component is administered
to one randomly selected adult from each household. Similarly, the Sample Child component is
administered for one child from each participating
household with children under 18. If two or more
children are present, one is selected at random
to participate. An interview is administered to a
parent or other adult caregiver in the household
who is familiar with the selected childs health.
The Sample Adult and Sample Child components
collect information on individual health status,
chronic health conditions, health care experiences, and health behaviors (CDC 2011a). Content
of the Core components, which is consistent from
year to year, is augmented by Supplemental questionnaires as needed to address specific questions
and issues of concern to MCHB or other government agencies (CDC 2011a).
Questions pertaining to special health care
needs and disability of children and youth are
included in the Family and Sample Child components of the NHIS. The Family component asks
about play activity limitations (age 04 years),
Special Education or Early Intervention (age

018 years), self-care limitations (age 3 years and
up), and for all ages, limited mobility, cognition,
or activities because of physical, mental, or emotional problems. The Sample Child component
collects information about hearing or vision impairment, use of special equipment or long-term
limited mobility due to an impairment or health
problem, and use of prescription medication for
3months or more (CDC 2011a).
As described previously, the 1994 and 1995
NHIS-D was designed to collect policy-relevant
data that could be used to inform implementation of the 1990 Americans with Disabilities Act.
Phase I of the NHIS-D was administered with
the NHIS Core in both years, adding child-level
information about chronic illness, special health
heeds, special education services, and, for children under 5, early childhood development. In
phase II, the Disability Followback Survey (DFS)
surveyed children with disabilities concerning
utilization and need for services, functional assessment of physical, emotional, and behavioral
development, and impact of childrens disability
on families (CDC 2009a).
The NHIS has much to offer as a data resource
for researchers interested in examining disability
and special health care needs of children and
youth. NHIS Core questions address the complexity of these issues by identifying specific
areas of limitation and following up with detailed
questions to establish their extent, duration, and
details of any underlying chronic health conditions. The four Core component questionnaires
offer contextual information rarely included in
other surveys, not the least of which is the availability of disability and health data for all family
members. An added advantage is cross-verification of responses between components, which
strengthens the validity of key results.
In 2002, the CSHCN Screener was included
as a supplement to the Child Health Care Access
and Utilization section of the NHIS, for comparison of in-home interview results with results
obtained from two national telephone surveys
that also use this measure (NCHS 2010; also see
Bethell etal. 2008). Although the Screener questions were not repeated in subsequent years, ef-
323
forts have been made to develop an algorithm to

replicate the CSHCN Screener based on core and
sample child questions (Davidoff 2004).
At the national level the sample size of the
NHIS is large enough to support complex multivariable analysis with a wide-ranging selection
of demographic, health, health care, and insurance characteristics. A 1997 revision, which established the Core and Supplemental questionnaires, facilitates pooling of data from multiple
survey years (NCHS 2010). This has increased
capacity for trending of results over several
years and improved the surveys potential for
providing reliable results within selected states
or subpopulations (NCHS 2010). Supplemental
questionnaires enhance the responsiveness of the
NHIS by offering a vehicle for timely data collection on topics of special concern, which can
be studied within the context of information from
the Core components (CDC 2011a).
Perhaps the most valuable feature of the NHIS
is its position as a hub for linkage between various national data sources including NCHS mortality data, Medicare enrollment and claims data,
Social Security Benefit History data, the National
Immunization Provider Records Check Survey,
and the Medical Expenditure Panel Survey (described below; CDC 2010).
Among the limitations of the NHIS are variations in sampling, data collection, and weighting methods that have occurred over the years.
Researchers interested in trending or comparing
results from different survey years must carefully
consider how methodological changes may affect
their findings. The same is true when pooling results from multiple years. Also, although the population represented by the NHIS includes most
US residents, some segments of the population
are excluded. Among these are individuals living
in long-term care facilities, prisons or other institutional settings, members of the Armed Forces
who are on active duty, and US nationals living
in foreign countries (CDC 2011a).
NHIS and NHIS-D public data files and documentation are available to the public and may be
downloaded from the NCHS website at: http://
www.cdc.gov/nchs/nhis.htm.
324
16.5.2Medical Expenditure Panel

Survey
The MEPS is a set of large-scale national surveys
of families and individuals, their medical providers, and employers (AHRQ 2009). The MEPS
has been conducted annually by the AHRQ since
1996 and serves as a comprehensive source of
nationally representative data on health, utilization of health care, and health expenditures. The
MEPS collects information about childrens functional limitations and has included the CSHCN
Screener questions since 2001 (AHRQ 2009).
At the core of the MEPS is the Household
Component (MEPS-HC), which employs a sampling design that features overlapping panels
of households. Each panel participates in five
rounds of interviews yielding data covering two
calendar years. Every year a new MEPS panel
is selected from a subsample of households participating in the previous years NHIS. Consequently, at any given point in time, data are being
collected simultaneously from two panels, one
in its first year and another in its second. Annual
MEPS samples from 2001 forward have included
about 12,800 households with 32,500 individuals, of whom roughly 9,700 are children under
the age of 18 years (AHRQ 2009).
Data collection for the MEPS-HC is divided
into sections covering various topics. Some sections are included in every round, while others
are asked in only one or two rounds. Personal
household interviews are conducted using laptop computers with CAPI software, which
guides participants through the intricate array
of questions and complex skip patterns specified for each round of interviewing. MEPS-HC
public data files include demographic characteristics, health conditions, health status, use of
medical care services, charges and payments,
access to care, satisfaction with care, health
insurance coverage, income, and employment.
Data collected from medical providers of survey
participants are used to verify and supplement
information provided by household members
(AHRQ 2009).
MEPS data are available in Longitudinal
Data Files containing data for the full 2 years
of a given panel, and in Full Year Consolidated

Data Files providing person-level data covering a
calendar year (drawn from a subset of interview
rounds for two overlapping panels). Weighting
and other design variables for individual and
family-level analysis are provided, as are keys
for linking with NHIS and other MEPS data files,
Area Resource Files, and other Census Bureau
data (AHRQ 2009).
Among the strengths of the MEPS data is its
capacity for analysis of health care costs and services among CSHCN overall, within subgroups
of CSHCN, and compared with children who
do not have special health care needs. The panel
format permits longitudinal analysis of up to 3
years of data on participants when MEPS files
are linked with NHIS data. Because all family
members are interviewed, MEPS data permits
study of the impact of disability and SHCN on
family members and family systems. The capacity to link MEPS records with census and hospitalization data further enhances its utility. Data
files from multiple years can be pooled to enable
complex statistical analyses as well as research
on smaller subpopulations (AHRQ 2008). A limitation of the MEPS is that its public-use data files
do not include state identifiers and cannot, therefore, be used for state-level analysis or comparisons. Analyses below the regional level require
utilization of restricted data files, which can only
be accessed at specific locations after approval
from AHRQ (AHRQ 2008).
MEPS information, data files, and documentation are available to the public and may be found
on the AHRQ website: http://www.meps.ahrq.
gov/mepsweb/. The website offers assistance in
locating and learning how to use the many data
files that are available for public use.
16.6Prevalence Estimates
from Surveys
Questions assessing functional limitations in
youth surveys vary from survey to survey. Thus,
each data source yields a different estimate of the
prevalence of disability within the youth population. Furthermore, when surveys have multiple
questions identifying functional limitations,

researchers may choose to use only certain questions or combine the available questions in different ways from study to study. For example,
Ford etal. (1999) selected just one of the physical disability questions in the Add Health dataset
and thereby identified only 2.6% of US adolescents as disabled. Cheng and Udry (2002) combined multiple disability-related variables in the
same dataset to yield a prevalence estimate of
6%.
Similarly, researchers may choose various
ways of analyzing disability data in NELS:88.
There is poor-to-moderate agreement among reports of disability from youth themselves, their
parents, teachers, and school administrators.
Prevalence estimates in cross-sectional analyses
of data from a given wave range from 2.8% for
self-identification at second follow-up to 11.7%
for parental identification at base year (Rossi
etal. 1997).
In 2005, when the national YRBS included
a disability identifier, it asked about any physical disabilities or long-term health problems.
In response to this question, 10.3% of youth
answered affirmatively. Individual states have
taken more expansive approaches with their
YRBS questions, asking about a range of physical and mental conditions and activity limitations. Such an approach has resulted in youth
disability prevalence estimates ranging from
22% to 37% (Horner-Johnson 2011; Simeonsson
etal. 2002).
Even when a set of questions is implemented
and analyzed consistently across surveys, as in
the case of the CSHCN Screener, prevalence estimates may vary somewhat due to differences
in survey methodology. Bethell etal. (2008) reported on variation in the prevalence and characteristics of children with special health care
needs identified using the CSHCN Screener in
three national surveys: the 2001 NS-CSHCN,
the 2003 NSCH, and the 20012004 MEPS.
Their findings confirmed that CSHCN prevalence remains stable if measured repeatedly
using consistent administration methods, as was
done in the 20012004 MEPS. However, when
methods of administration varied, the preva-
325
lence rates also varied. Estimated prevalence in

the 2001 NS-CSHCN was 12.8%, about 5% less
than in the 2003 NSCH (17.6%) and as much
as 6.5% less than in the MEPS surveys (18.8
19.3%). Comparative analysis of the health
characteristics of CSHCN identified in each
survey suggested that children with less serious
health consequences may have been less likely
to be identified in the NS-CSHCN than in the
NSCH and MEPS. The authors concluded that
because CSHCN prevalence estimates vary even
when the same definition and tool are used but
administered differently, it may be best to express the prevalence of special health care needs
as a range, rather than a point estimate. (Bethell
etal. 2008).
16.7Examples of Health Findings

Using Survey Data
Countless studies have been conducted using
data from the sources described above. This section summarizes a handful of examples of findings related to the health of children and youth
with SHCN and/or disabilities.
Using Add Health data, Blum et al. (2001)
studied adolescents with mobility disabilities, focusing specifically on those who had difficulty
with a limb and used an artificial limb (in an effort to avoid inclusion of youth with nonpermanent injuries lasting 12 months or more). Their
mobility disability sample also included youth
who considered themselves to have a disability
or thought they were considered by others to have
a disability. In addition, the authors studied adolescents with emotional disabilities (in the upper
quintile of emotional distress scale) and learning
disabilities (receiving special education and having difficulty with school work on a daily or near
daily basis). Blum etal. (2001) found that adolescents with each type of disability were significantly more likely than youth without disabilities
to smoke cigarettes and drink alcohol regularly,
to have first had intercourse before the age of 12
years, and to have attempted suicide within the
past year. Furthermore, youth with disabilities
had greater exposure to risk factors associated
326
with each of the above behaviors, including more

exposure to violence, greater chance of having
a relative who had committed or attempted suicide, higher likelihood of being on welfare, more
likely to be a sexual minority (i.e., not heterosexual), and more likely to live in a home with a gun.
Conversely, exposure to protective factors such
as family connectedness, parental expectation of
school completion, engaging in activities with
parents, self-esteem, and scholastic achievement
were all lower for these youth.
Cheng and Udry (2002) analyzed Add Health
data regarding sexual behaviors of adolescents
with physical disabilities. Their definition of
physical disability incorporated youth and parent responses to questions about difficulty using
limbs, underlying conditions causing the difficulty, use of assistive devices such as canes or
wheelchairs, and use of braces or artificial limbs,
as well as interviewer assessments of sensory
disabilities (blindness in one or both eyes; deafness in one or both ears). Disability was then
categorized by the researchers as minimal, mild,
or severe based on the number of different conditions experienced by youth. Overall, girls with
disabilities were twice as likely as nondisabled
girls to have been forced to have sex. Unfortunately, boys were not asked whether they had
been the victims of forced sex, but only whether
they had been perpetrators. Minimally disabled
boys were three times as likely as nondisabled
boys to admit that they had forced sex on others.
Both boys and girls with disabilities were as likely or more likely than youth without disabilities
to have engaged in consensual sex. Furthermore,
girls with severe disabilities held more positive
attitudes toward pregnancy than did their nondisabled counterparts, while boys with severe disabilities had poorer knowledge of birth control
than nondisabled boys. In addition, boys with
disabilities, regardless of severity, were more
likely than other boys to think that birth control
is expensive. This combination of responses suggests that adolescents with disabilities may be at
greater risk of experiencing or causing teenage
pregnancy.
Ford etal. (1999) used Add Health data to examine foregone health care among adolescents.
Foregone health care was defined as not having

had a physical exam within the past year. One
of the factors they considered was disability, defined as an affirmative response to a single question about difficulty using hands, arms, legs, or
feet because of a physical condition. Adolescents
with disabilities were about twice as likely as
nondisabled youth to have foregone health care
in the past year. The association between disability and foregone care remained significant for
both boys and girls when controlling for other
factors, such as age, race and ethnicity, family
characteristics, and insurance.
NELS:88 data have been used to examine
substance use among youth with disabilities
(Hollar and Moore 2004; Hollar 2005). In these
studies, youth with disabilities were defined
based on parental responses to base year questions about vision, hearing, speech, physical,
learning, and emotional impairments. Although
comparisons were not made to youth without
disabilities, youth with different types of disabilities were compared with each other. Those
with learning, emotional, or multiple disabilities
were most likely to engage in binge drinking
and marijuana use (Hollar 2005). Furthermore,
youth with disabilities who smoked every day,
engaged in binge drinking, or used marijuana
or cocaine had poorer educational, social, and
employment outcomes than youth who did not
participate in these risk behaviors (Hollar and
Moore 2004).
Jones and Lollar (2008) analyzed 2005 data
from the national YRBS to study health risks
among youth with physical disabilities or longterm health problems in comparison to other
youth. Youth with disabilities or long-term health
problems were substantially more likely to describe their health as fair or poor. Youth with disabilities/health problems were also significantly
more likely to be current cigarette smokers, marijuana users, and alcohol users. They were more
likely to have ever had sex, had sex with four or
more partners, and been forced to have sex. Youth
with disabilities or chronic health problems were
significantly and substantially more likely to
report feeling sad or hopeless, having seriously
considered suicide, or having attempted suicide.
These youth were also more likely to have been

in a physical fight, more likely to use computers
3 hours or more per day, and more likely to be
overweight.
Data from state-level YRBS surveys with
disability-related questions have yielded comparable findings. Analyses of 1999 Oregon data
by the Oregon Office on Disability and Health
(Horner-Johnson etal. 2003; 2005) showed that
youth with medical conditions, emotional conditions, or learning disorders were significantly
more likely to have experienced physical abuse,
sexual abuse, and depression, and to have considered or attempted suicide. These youth were
also much more likely to report unmet needs for
health care. Youth with emotional or learning
disabilities were more likely than other youth to
have used cocaine or methamphetamines at least
once, and were more likely to regularly smoke,
use marijuana, and engage in binge drinking.
When controlling for limitations in activities, Tsu
(2002) found that some of the effects of medical
conditions and learning disorders were no longer
significant, suggesting that the presence of an
activity limitation is particularly linked to risky
behaviors and negative experiences. Analyses
of 2004, 2006, and 2008 Oregon data regarding
youth with activity limitations confirmed that
these youth were less likely than their peers to
be physically active and more likely to be overweight. They were also more likely to smoke,
use drugs, have experienced physical or sexual
abuse, and to have seriously considered suicide
(Horner-Johnson 2007; 2011). Similar patterns
have been reported by researchers in North Carolina and Washington, as summarized by Hollar
(2005) and Jones and Lollar (2008).
Nageswaran etal. (2008) used the 2001 NSCSHCN to explore whether CSHCN with functional limitations had different health care needs
and experiences than CSHCN with no functional
limitations. Based on responses to two items in
the questionnaire, the authors defined three categories: severe limitation, some limitation, or
no limitation, according to the frequency (never,
sometimes, usually, always) and amount (very
little, some, a great deal) of impact of health
conditions on the ability of CSHCN to do things
327
other children their age do. Results of the study

indicated that, when compared with those with
no functional limitations, CSHCN with severe
limitations were eight times as likely to need
therapy services, seven and half times as likely
to need early intervention or special education
services, and five times as likely to need home
health services, medical equipment, or mobility
devices. The odds of CSHCN with severe functional limitations having poor access to health
care, unsatisfactory interactions with health care
providers, or inadequate health insurance, were
significantly higher compared with CSHCN
without functional limitations. The financial issues faced by families of CSHCN with severe
functional limitation were striking: the odds of a
family member having to quit a job, cut back on
work, or the family experiencing financial problems resulting from the childs health condition
were six to seven times as high as for CSHCN
with no limitations. CSHCN with severe limitations were also five times as likely to need additional family income to cover their health costs
or to have missed more than 2 weeks of school.
The authors concluded that functional limitation
is an important factor in health care disparities
and must be considered in planning of health services for CSHCN.
Ghandour and colleagues used data from the
20052006 NS-CSHCN to analyze prevalence
and correlates of internalizing mental health
symptoms among CSHCN (Ghandour et al.
2010). The authors reported that nearly one-third
(31.9%) of CSHCN between the age of 3 and
17 years experienced internalized mental health
symptoms such as depression, anxiety, or eating disorders. They identified several sociodemographic and health characteristics that were
significantly correlated with presence of internalizing mental health symptoms. Among the strongest of these predictors were behavioral problems
or disorders and autism spectrum disorders. Significant effects were also found for children with
frequent headaches or chronic pain, and for children living in households experiencing disruption of employment or financial burden resulting
from the childs health needs (Ghandour et al.
2010). These findings underscore the importance
328
of ensuring both the physical and mental health

of CSHCN, particularly with respect to depression screening and mental health services in the
primary care setting.
An illustration of research utilizing the broader capabilities of the NS-CSHCN is provided by a
recent study on the adequacy of health insurance
among CSHCN, which supplements its findings
from the 20052006 NS-CSHCN interview data
with results from the concurrently conducted
national referent sample of non-CSHCN (Honberg etal. 2009). Analysis revealed that although
CSHCN were more likely than non-CSHCN to
be insured at the time of the survey and continuously during the previous 12 months, their coverage was less likely to meet MCHB core outcome
criteria for adequate health insurance coverage.
Among CSHCN, the proportion with adequate
health insurance increased a small but significant amount, from 59.6% in the 2001 survey to
62.0% in 20052006. CSHCN who did not have
adequate health insurance were more likely to
have unmet health care needs or experience family financial problems resulting from their health
conditions (Honberg etal. 2009).
An article recently published in the New England Journal of Medicine described a study similar to the one summarized above, but using data
from the 2007 NSCH to examine the adequacy
of health insurance coverage among all children
(Kogan et al. 2010). Several survey items were
used to construct a multivariate outcome measure categorizing childrens health insurance
coverage over the 12 months prior to and including the survey as: Never Insured, Sometimes Insured, Underinsured (continuously insured but
inadequately covered), or Fully Insured (continuously insured and covered adequately). Among
the results of this study was the finding that
25% of CSHCN nationwide were Underinsured,
compared with 18% of non-CSHCN. Compared
with children without special health care needs,
CSHCN were 1.3 times as likely to have inadequate coverage of needed services, 1.5 times
as likely to have inadequate access to needed
providers, and 1.5 times as likely to have out-ofpocket medical costs characterized by parents as
unreasonable (Kogan etal. 2010).
Utility of the NSCH and NS-CSHCN for statelevel analysis is exemplified in a study of health
care quality in Alabama, using the 2003 NSCH
(Mulvihill et al. 2007). Based on a composite
measure of medical home, the authors found
that CSHCN fared much better on the medical
home measure in Alabama (51%) than nationwide (44%). There was no significant difference
in prevalence of medical home between CSHCN
and non-CSHCN in Alabama, but there were
differences in specific components of the medical home measure. When compared with nonCSHCN, CSHCN had better outcomes on the
three basic components of medical home: having
a personal doctor or nurse (91% compared with
85% among non-CSHCN), having a preventive
health care visit within the past 12 months (89%
compared with 75%), and communication with
health care providers (85% compared with 79%).
CSHCN fared poorly on one of the secondary
medical home components: 17% had moderate
or big problems accessing specialty care, equipment, and services, compared with 6% of nonCSHCN.
Van Cleave and Davis (2006) conducted a
study of bullying and peer victimization among
school-aged children. Based on data from the
2003 NSCH for children and adolescents between the age of 6 and 17 years, the study found
that nearly one in every three CSHCN were bullied by other children. Adjusted odds of CSHCN
being bullied were significant but not high20%
higher than the odds for non-CSHCN. CSHCN
status was not significantly associated with either bullying other children or engaging in bullyvictim behavior. CSHCN who qualified based on
ongoing emotional, developmental, or behavioral
conditions requiring treatment were significantly
more likely than other children (CSHN and nonCSHCN) to be bullied, bully other children, or be
both bully and victim.
For the most part, survey measures of disability, functional limitation, or health consequences
have avoided one aspect of disability that defies
operationalizationincreased risk (see Loprest
and Davidoff 2004). Although the MCHB definition of children with special health care needs
includes children who are at risk for having spe-
cial health care needs, the CSHCN Screener does

not account for children who do not currently
have SHCN. An analysis of 2003 NSCH data
(Newacheck et al. 2008) explored measurable
characteristics that might contribute to increased
or decreased risk of developing SHCN, using a
population health model developed by Newacheck etal. (2006) based on work of the National
Committee on Vital and Health Statistics. The
NSCH is especially appropriate for this question
because its sample represents all children whether or not they have special health care needs, and
because it provides information at the levels of
individual child, family, and neighborhood environment. The study examined characteristics
in six domains. Five of these domains were significantly associated with SHCN: predisposing
characteristics, genetic endowment, physical
environment, social environment, and healthinfluencing behavior. The sixth domain, health
care system characteristics, yielded no significant results. Among the specific characteristics
identified as being associated with SHCN, were
some traits (e.g., age, gender, ethnicity) that are
not amenable to intervention as well as some that
may hold potential for change. The latter category included breastfeeding, second-hand smoke
exposure, family relationships, and supportive
neighborhoods. The authors proposed further examination of these and other possible risk factors,
with the goal of beginning to shape a more comprehensive approach to identifying, measuring,
and addressing factors that contribute to special
health care needs among children.
Stein et al. (2006) used data from the 2002
NHIS in their exploration of the hypothesis that
low birth weight is associated with poor health
outcomes, including SHCN. Some may take
issue with the assumption that SHCN are synonymous with poor health. However, SHCN as
an outcome is a valid construct. This study found
that compared with normal birth weight (2,500g
or more), moderately low birth weight (1,500
2,499 g) was associated with several negative
health outcomes in children up to 12 years of
age. These outcomes included having an SHCN,
a chronic health condition, a learning disability,
or an attention-deficit disorder. Health outcomes
329
that were not significantly associated with low

birth weight included hospitalization within
the past year, other behavioral disorders, minor
health conditions, or acute illnesses.
Amy Davidoff published a report describing
development of a measure of CSHCN, which
could be applied to NHIS data in years when the
CSHCN Screener was not included (Davidoff
2004). Using data from 1997, 1999, and 2000
NHIS, survey items were identified and threshold values assigned with the goal of replicating
the content and logic of the CSHCN Screener.
The resulting algorithms combine criteria for activity limitation and chronic health conditions to
estimate prevalence of CSHCN in earlier NHIS
years. These estimates compare reasonably well
with known prevalence in subgroups and with
results from the CSHCN Screener, QuICC, and
MCHB estimates.
The impact of CSHCN on low-income parents decisions about employment was the subject of a study using a pooled sample from the
1999 and 2000 NHIS of 4,700 single-parent
families with income below 200% of the Federal Poverty Level (Loprest and Davidoff 2004).
The algorithm described above (Davidoff 2004)
was used in the combined 19992000 NHIS to
identify families in which the sampled child had
SHCN (n=752). Overall, the study found no
significant difference in workforce participation
of parents, based on whether or not children had
SHCN. However, parents of CSHCN with activity limitations were significantly less likely to be
employed, and those who were employed worked
fewer hours, than parents of other CSHCN and
non-CSHCN.
The MEPS surveys lend themselves especially well to analysis of health care utilization and
expenditures, as illustrated by two studies exploring health care utilization and expenditures
among children with and without special health
care needs. Newacheck et al. (2004) used data
from the 1999 and 2000 MEPS and focused on
children with disabilities, defined as those who
were limited in age-appropriate activities or who
received early intervention or special education
services. Compared with children without disabilities, children with disabilities were found
330
to have more and longer hospital stays, more

visits to physicians and other health care providers, more prescriptions for medication, and more
home health provider days. Not surprisingly,
health expenses overall as well as out-of-pocket
expenses for these children were much higher
than for those without disabilities. Among children with disabilities, distribution of medical
expenditures was highly skewed. Nearly twothirds (64.9%) of overall health care expenses
were incurred by 10% of the population. Similarly, 85% of out-of-pocket expenses were concentrated in the highest decile (Newacheck etal.
2004). Further analysis revealed that, although
out-of-pocket expenses were higher for children
from high-income families (at or above 400% of
Federal Poverty Guidelines (FPG)), low-income
families (less than 200% of FPG) spent a much
higher proportion of their household income on
out-of-pocket medical expenses. The risk of having more than 5% of family income consumed by
medical bills was 19 times as high among lowincome children with disabilities, compared with
those from higher income families. Insurance
status was found to be associated with lower outof-pocket expenses. A subsequent study examined utilization and expenditures among CSHCN
as defined by the CSHCN Screener in the 2000
MEPS, with similar findings (Newacheck and
Kim 2005).
Yu etal. (2008) used a family-level approach
to examine out-of-pocket health care expenses
with MEPS data. Families were grouped according to whether one child or more met CSHCN
Screener criteria. The outcome was defined as
health-related costs paid by the family for all
family members as a percentage of total family
income, with indicators of catastrophic medical
expenditure set at more than 10% and more than
20% of total family income. Trend analysis revealed that, as the cost of health care rose from
2001 through 2004, the financial burden borne
by families of CSHCN also increased. The percentage of families with CSHCN whose out-ofpocket expenses exceeded 10% of their income
grew from 15.4% in 2001 to 21.7% in 2004;
the proportion with over 20% burden doubled,
from 4.6 to 9.2%. The authors established that
higher out-of-pocket expenditures by families of

CSHCN in 2004 reflected higher costs for the
same medical services, rather than increased
utilization (Yu etal. 2008). The increased costs
were attributed to reductions in health care insurance benefits offered by employers. Analysis of the outcomes by family insurance status
and type (public or private) showed that, among
families with CSHCN, the risk of catastrophic
out-of-pocket medical expenditures was much
lower for those who had public insurance coverage, compared with those with private health
insurance plans.
The Center for Children and Adolescent
Health Policy reported recently on a study of the
well-being of parents who care for children with
activity limitations (Kuhlthau etal. 2010). Their
analysis of MEPS data from 1996 through 2001
evaluated indicators of parents health status, use
of health care services, employment, and financial status, based on whether or not they had a
child with limited ability to participate in school,
social, or play activities. Parents of children with
disabilities were found to have significantly
more adverse outcomes overall than parents of
children with no disabilities. Adverse outcomes
were more common among parents of children
with activity limitations across many indicators of parent well-being: quality of life, activity
limitation, visits for sick care, employment, loss
of work days, and out-of-pocket expenditures
(mean amount and above 5% of family income).
These studies provide but a sampling of the
many ways in which survey data can be used to
obtain information about the health and well-being of children, youth, and families impacted by
SHCN and/or disabilities. These data are important for informing intervention and policy efforts
at both state and national levels.
16.8Summary
The surveys described above are examples of
the wealth of population-based data available
pertaining to children and youth with SHCN
and disability. Although disability is defined
and measured in different ways in different sur-
veys, there are many similarities in the findings.

Across data sources, children and youth with
SHCN or disability appear to be at greater risk
for a range of health problems as well as unmet
health care needs. Population-based data are crucial not only for identifying these problems, but
also for tracking the success of efforts to address
them.
In addition to the surveys described here,
there are several others with relevant data, such
as the National Health and Nutrition Examination Survey (NHANES) conducted by the CDCs
NCHS and the Early Childhood Longitudinal
Studies (ECLS) sponsored by NCES. Many of
these data sources are easily accessible to the
general public. They serve as important tools to
inform policy and practice in working to improve
the health of children and youth with SHCN and
ensure that they achieve optimal health and wellbeing as adults.
References
Agency for Healthcare Research and Quality (AHRQ).
(2008). Resource guide to AHRQ child and youth
health and health care services data (No. 07(08)0088)). Rockville: Agency for Healthcare Research
and Quality.
Agency for Healthcare Research and Quality (AHRQ).
(2009). Medical Expenditure Panel Survey: Survey
background. Retrieved March 29, 2011 from http://
www.meps.ahrq.gov/mepsweb/about_meps/survey_
back.jsp.
Altman, B. (2009). Disability section lifetime achievement award: Acceptance speech. APHA Disability
section annual business meeting. Philadelphia.
Bethell, C. D., Read, D., Neff, J., Blumberg, S. J., Stein,
R. E. K., Sharp, V., & Newacheck, P. W. (2002a).
Comparison of the children with special health care
needs screener to the questionnaire for identifying
children with chronic conditionsrevised. Ambulatory Pediatrics, 2(1), 4957.
Bethell, C. D., Read, D., Stein, R. E. K., Blumberg, S. J.,
Wells, N., & Newacheck, P. W. (2002b). Identifying
children with special health care needs: Development
and evaluation of a short screening instrument. Ambulatory Pediatrics, 2(1), 3848.
Bethell, C. D., Read, D., Blumberg, S. J., & Newacheck,
P. W. (2008). What is the prevalence of children with
special health care needs? Toward an understanding
of variations in findings and methods across three
national surveys. Maternal and Child Health Journal,
12(1), 114.
331
Blum, R. W., Kelly, A., & Ireland, M. (2001). Healthrisk behaviors and protective factors among adolescents with mobility impairments and learning and
emotional disabilities. Journal of Adolescent Health,
28(6), 481490.
Blumberg, S. J., Foster, E. B., Frasier, A. M., Satorius, J.,
Skalland, B. J., Nysse-Carris, K. L., OConnor, K. S.
(in press). Design and operation of the National Survey of Childrens Health, 2007. Vital Health Statistics,
Series 1.
Blumberg, S. J., Olson, L., Frankel, M., Osborn, L.,
Becker, C. J., Srinath, K. P., & Giambo, P. (2003).
Design and operation of the National Survey of Children with Special Health Care Needs, 2001. Vital
Health Statistics, Series 1(41), 1136.
Blumberg, S. J., Olson, L., Frankel, M. R., Osborn, L.,
Srinath, K. P., & Giambo, P. (2005). Design and operation of the National Survey of Childrens Health, 2003.
Vital Health Statistics, Series 1(43), 1124.
Blumberg, S. J., Luke, J. V., & Cynamon, M. L. (2006).
Telephone coverage and health survey estimates:
Evaluating the need for concern about wireless substitution. American Journal of Public Health, 96(5),
926931.
Blumberg, S. J., Welch, E. M., Chowdhury, S. R.,
Upchurch, H. L., Parker, E. K., & Skalland, B. J.
(2008). Design and operation of the National Survey
of Children with Special Health Care Needs, 2005
2006. Vital Health Statistics, Series 1(45), 1198.
Bramlett, M. D., Read, D., Bethell, C., & Blumberg, S.
J. (2009). Differentiating subgroups of children with
special health care needs by health status and complexity of health care needs. Maternal and Child
Health Journal, 13(2), 151163.
Brener, N. D., Kann, L., Kinchen, S. A., Grunbaum, J. A.,
Whalen, L., Eaton, D., Ross, J. G. (2004). Methodology of the Youth Risk Behavior Surveillance System.
Morbidity and Mortality Weekly Report, 53(RR-12),
114.
Buehler, J. W. (2008). Surveillance. In K. J. Rothman, S.
Greenland, & T. L. Lash (Eds.), Modern epidemiology
(3rd ed., pp.459480). Philadelphia: Lippincott Williams & Wilkins.
Carle, A. C., Blumberg, S. J., & Poblenz, C. (2010). Internal psychometric properties of the children with special health care needs screener. Academic Pediatric
Association, 11(2), 128135.
Carolina Population Center. (n.d.). About Add Health.
Retrieved July 5, 2010 from http://www.cpc.unc.edu/
projects/addhealth/about.
Centers for Disease Control and Prevention (CDC).
(2009a). National Health Interview Survey on Disability. Retrieved March 25, 2011 from http://www.
cdc.gov/nchs/nhis/nhis_disability.htm.
(2009b). Report of the SLAITS and NIS review panel
to the NCHS board of scientific counselors (BSC).
Atlanta: Centers for Disease Control and Prevention.
(2010). Survey reports and data linked to National
332
Health Interview Survey. Retrieved May 5, 2011 from
http://www.cdc.gov/nchs/nhis/nhis_products.htm.
(2011a). About the National Health Interview Survey.
Retrieved April 18, 2011 from http://www.cdc.gov/
nchs/nhis/about_nhis.htm.
(2011b). SLAITS (State and Local Area Integrated
Telephone Survey)National Survey of Children with
Special Health Care Needs. Retrieved April 18, 2011
from http://www.cdc.gov/nchs/slaits/cshcn.htm.
(n.d.). National Health Interview Survey (brochure).
Retrieved January 15, 2011 from http://www.cdc.gov/
nchs/data/nhis/brochure2010January.pdf.
Cheng, M. M., & Udry, J. R. (2002). Sexual behaviors
of physically disabled adolescents in the united states.
The Journal of Adolescent Health, 31(1), 4858.
Curtin, T. R., Ingels, S. J., Wu, S., & Heuer, R. (2002).
National Education Longitudinal Study of 1988:
Base-year to fourth follow-up data file users manual
(NCES 20022323). Washington: U.S. Department of
Education, National Center for Education Statistics.
Data Resource Center for Child and Adolescent Health
(DRC). (2003a). 2003 National Survey of Childrens
Health: Child health measures (content map). Portland: Oregon Health & Science University, Child and
Adolescent Health Measurement Initiative.
(DRC). (2003b). 2003 National Survey of Childrens
Health: Healthy People 2010 (concept map). Portland: Oregon Health & Science University, Child and
(DRC). (2003c). 2003 National Survey of Childrens
Health: State profiles (content map). Portland: Oregon
Health & Science University, Child and Adolescent
Health Measurement Initiative.
(DRC). (2007a). 2007 National Survey of Childrens
Health: Child health measures (content map). Portland: Oregon Health & Science University, Child and
(DRC). (2007b). 2007 National Survey of Childrens
Health: Healthy People 2010 (content map). Portland:
Oregon Health & Science University, Child and Adolescent Health Measurement Initiative.
(DRC). (2007c). 2007 National Survey of Childrens
Health: State profiles (content map). Portland: Oregon
Health & Science University, Child and Adolescent
Health Measurement Initiative.
(DRC). (2009). 200506 NS-CSHCN list of functional
difficulties and current health conditions. Retrieved
May 5, 2011 from http://cshcndata.org/ViewDocument.aspx?item=187.
(DRC). (n.d.a). National Survey of Children with

Special Health Care Needs Data Resource Center:
Request a data set. Retrieved May 5, 2011 from http://
www.cshcndata.org/Content/RequestADataset.aspx.
(DRC). (n.d.b). National Survey of Childrens Health:
Related articles. Retrieved April 18, 2011 from http://
www.nschdata.org/Content/RelatedArticles.aspx.
Davidoff, A. J. (2004). Identifying children with special
health care needs in the National Health Interview
Survey: A new resource for policy analysis. Health
Services Research, 39(1), 5372.
Drum, C. E. (2009). Models and approaches to disability. In C. E. Drum, G. Krahn, & H. Bersani (Eds.),
Disability and public health (pp. 2744). Washington: American Public Health Association & American Association on Intellectual and Developmental
Disabilities.
van Dyck, P. C., McPherson, M., Strickland, B. B., Nesseler, K., Blumberg, S. J., Cynamon, M. L., & Newacheck, P. W. (2002). The National Survey of Children
with Special Health Care Needs. Ambulatory Pediatrics, 2(1), 2937.
van Dyck, P., Kogan, M. D., Heppel, D., Blumberg, S.
J., Cynamon, M. L., & Newacheck, P. W. (2004). The
National Survey of Childrens Health: A new data
resource. Maternal and Child Health Journal, 8(3),
183188.
Ford, C. A., Bearman, P. S., & Moody, J. (1999). Foregone health care among adolescents. The Journal of
American Medical Association, 282(23), 22272234.
Ghandour, R. M., Kogan, M. D., Blumberg, S. J., & Perry,
D. F. (2010). Prevalence and correlates of internalizing mental health symptoms among CSHCN. Pediatrics, 125(2), e269e277.
Gordis, L. (2000). Epidemiology (2nd ed.). Philadelphia:
Saunders.
Harris, K. M., Halpern, C. T., Whitsel, E., Hussey, J.,
Tabor, J., Entzel, P., & Udry, J. R. (2009). The National
Longitudinal Study of Adolescent Health: Research
design. Retrieved March 9, 2011 from http://www.cpc.
unc.edu/projects/addhealth/design.
Hollar, D. (2005). Risk behaviors for varying categories of disability in NELS:88. The Journal of school
health, 75(9), 350358.
use by students with disabilities to long-term educational, employment, and social outcomes. Substance
Use Misuse, 39(6), 931962.
Honberg, L. E., Kogan, M. D., Allen, D., Strickland, B.
B., & Newacheck, P. W. (2009). Progress in ensuring
adequate health insurance for children with special
health care needs. Pediatrics, 124(5), 12721279.
Horner-Johnson, W. (2007). Module F: Supplemental surveillance. In C. E. Drum (Ed.), Oregon Office on Disability and Health grant proposal. Portland: Oregon
Health & Science University.
Horner-Johnson, W. (2011). Health risks and health
behaviors among Oregon teens. Presentation at the
Oregon Youth Health Forum, Salem, Oregon.
Horner-Johnson, W., Weisser, J., & Drum, C. E. (2003).
Youth Risk Behavior Survey: Health risks among
Oregon high school students with disabilities. Presentation at the Annual Meeting of the American Public
Health Association, San Francisco, CA.
Horner-Johnson, W., Drake, A. E., & Drum, C. E. (2005).
Data brief: Health risks among Oregon high school
students with medical, emotional, and learning disabilities. Portland: Oregon Office on Disability and
Health.
Irwin, C. E., Burg, S., & Cart, C. (2002). Americas adolescents: Where have we been, where are we going?
The Journal of Adolescent Health, 31(6), 91121.
Jones, S. E., & Lollar, D. J. (2008). Relationship between
physical disabilities or long-term health problems and
health risk behaviors or conditions among US high
school students. The Journal of School Health, 78(5),
252257.
Kalsbeek, W. D. (2004). The use of surveys in public
health surveillance: Monitoring high-risk populations.
In R. Brookmeyer & D. F. Stroup (Eds.), Monitoring
the health of populations: Statistical principles and
methods for public health surveillance (pp. 3770).
New York: Oxford University Press.
Kogan, M. D., Newacheck, P. W., Blumberg, S. J., Heyman, K. M., Strickland, B. B., Singh, G. K., & Zeni,
M. B. (2010). State variation in underinsurance among
children with special health care needs in the United
States. Pediatrics, 125(4), 673680.
Kovar, M.G. (2002). National health surveys. In L. Breslow (Ed.), Encyclopedia of public health. New York:
Macmillan.
Krahn, G. L., Fujiura, G., Drum, C. E., Cardinal, B. J., &
Nosek, M. A. (2009). The dilemma of measuring perceived health status in the context of disability. Disability and Health Journal, 2(2), 4956.
Kuhlthau, K., Kahn, R., Hill, K. S., Gnanasekaran, S., &
Ettner, S. L. (2010). The well-being of parental caregivers of children with activity limitations. Maternal
and child Health Journal, 14(2), 155163.
Loprest, P., & Davidoff, A. (2004). How children with
special health care needs affect the employment decisions of low-income parents. Maternal and Child
Health Journal, 8(3), 171182.
McPherson, M., Arango, P., Fox, H., Lauver, C., McManus, M., Newacheck, P. W., & Strickland, B. (1998).
A new definition of children with special health care
needs. Pediatrics, 102(1), 137140.
Mulvihill, B. A., Altarac, M., Swaminathan, S., Kirby, R.
S., Kulczycki, A., & Ellis, D. E. (2007). Does access
to a medical home differ according to child and family characteristics, including special-health-careneeds status, among children in Alabama? Pediatrics,
119(Supp.1), S107-S113.
Nageswaran, S., Silver, E. J., & Stein, R. E. K. (2008).
Association of functional limitation with health care
needs and experiences of children with special health
care needs. Pediatrics, 121(5), 9941001.
National Center for Education Statistics (NCES). (n.d.a).
Education Longitudinal Study of 2002 (ELS:2002).
333
Retrieved May 5, 2010 from http://nces.ed.gov/

surveys/ELS2002/.
National Center for Education Statistics (NCES). (n.d.b).
High school and beyond: Overview. Retrieved May 5,
2010 from http://nces.ed.gov/surveys/hsb/.
National Center for Education Statistics (NCES). (n.d.c).
High School Longitudinal Study of 2009 (HSLS:09).
Retrieved May 5, 2010 from http://nces.ed.gov/
surveys/hsls09/.
National Center for Education Statistics (NCES). (n.d.d).
National Education Longitudinal Study of 1988
(NELS:88). Retrieved May 5, 2010 from http://nces.
ed.gov/surveys/NELS88/.
National Center for Education Statistics (NCES). (n.d.e).
National Education Longitudinal Study of 1988
(NELS:88): NELS:88 design. Retrieved May 5, 2010
from http://nces.ed.gov/surveys/nels88/design.asp.
National Center for Health Statistics (NCHS). (2010).
2009 National Health Interview Survey (NHIS): Public use data release: NHIS survey description. Hyattsville: Centers for Disease Control and Prevention.
Newacheck, P. W., & Kim, S. E. (2005). A national profile
of health care utilization and expenditures for children
with special health care needs. Archives of Pediatrics
& Adolescent Medicine, 159(1), 1017.
Newacheck, P. W., Strickland, B., Shonkoff, J. P., Perrin, J. M., McPherson, M., McManus, M., Arango, P.
(1998). An epidemiologic profile of children with special health care needs. Pediatrics, 102(1), 117123.
Newacheck, P. W., Inkelas, M., & Kim, S. E. (2004).
Health services use and health care expenditures for
children with disabilities. Pediatrics, 114(1), 7985.
Newacheck, P. W., Rising, J. P., & Kim, S. E. (2006).
Children at risk for special health care needs. Pediatrics, 118(1), 334342.
Newacheck, P. W., Kim, S. E., Blumberg, S. J., & Rising, J. P. (2008). Who is at risk for special health care
needs: Findings from the National Survey of Childrens Health. Pediatrics, 122(2), 347359.
Raphael, D. (1996). Determinants of health of NorthAmerican adolescents: Evolving definitions, recent
findings, and proposed research agenda. The Journal
of Adolescent Health, 19(1), 616.
Rossi, R., Herting, J., Wolman, J., & American Institutes
for Research. (1997). Profiles of students with disabilities as identified in NELS:88 (No. NCES 97254).
Washington: National Center for Health Statistics.
Simeonsson, R. J., & Leskinen, M. (1999). Disability,
secondary conditions and quality of life: Conceptual
issues. In R. J. Simeonsson & L. N. McDevitt (Eds.),
Issues in disability and health: The role of secondary
conditions and quality of life. Chapel Hill: University
of North Carolina.
Simeonsson, R., McMillen, B., McMillen, J., & Lollar,
D. (2002). Risk behaviors among middle school students with and without disabilities: The North Carolina middle school YRBS. Presentation at the Annual
Meeting of the American Public Health Association,
Philadelphia, PA.
334
Stein, R. E. K., Siegel, M. J., & Bauman, L. J. (2006). Are
children of moderately low birth weight at increased
risk for poor health? A new look at an old question.
Pediatrics, 118(1), 217223.
Tsu, R. C. (2002). Evaluation of risk behaviors among
Oregons youth with chronic health, emotional or
learning conditions. Masters of Public Health thesis,
Oregon Health & Science University.
Healthy people 2010. Washington: U.S. Government
Printing Office.
The Surgeon Generals call to action to improve the
health and wellness of persons with disabilities. Washington: Office of the Surgeon General, U.S. Department of Health and Human Services.

Child Health Bureau. (2008). The National Survey of
Children with Special Health Care Needs chartbook
20052006. Rockville: U.S. Department of Health and
Human Services.
Van Cleave, J., & Davis, M. M. (2006). Bullying and peer
victimization among children with special health care
needs. Pediatrics, 118(4), e1212e1219.
Yu, H., Dick, A. W., & Szilagyi, P. G. (2008). Does public
insurance provide better financial protection against
rising health care costs for families of children with
special health care needs? Medical Care, 46(10),
10641070.
Secondary Conditions
in Youth with Disabilities
17
Jennifer L. Rowland
Abstract
Healthy People 2010 (U.S. Department of Health and Human Services

2000, Chap. 6, Disability and Secondary Conditions) identifies secondary conditions as medical, social, emotional, family, or community
problems that a person with a primary disabling condition likely experiences, which includes physical and psychological conditions that might
emerge following primary disability but which also includes the impact
of attitudes of other people on primary and secondary disabilities. In the
Institute of Medicines (IOM) 2007 report, The Future of Disability in
America, secondary condition risk is dependent on an individuals primary
disabling condition and therefore the risk of secondary conditions will differ among people. The IOM report also points out that behavior, lifestyle,
and biological factors for a particular individual can affect the potential
for developing participation restrictions, activity limitations, or additional
impairments as a result of a particular secondary condition. The purpose
of this chapter is to: (1) explore the variability in secondary condition
definitions, (2) identify the types of secondary conditions published in the
peer-reviewed literature for specific populations of youth, and (3) discuss
the importance of secondary condition prevention efforts in improving
quality of life for children and youth with disabilities.
Abbreviations
ADHD Attention-Deficit Hyperactivity Disorder

BMI Body Mass Index
CINAHL Cumulative Index to Nursing and Allied Health Literature
ERIC Educational Resources Information Center (Rockville, MD)
ID Intellectual Disability
IOM Institute of Medicine
J. L. Rowland ()
Department of Disability and Human Development,
University of Illinois at Chicago, 1640 W. Roosevelt
M/C 626, Chicago, IL 60608, USA
e-mail: jenrow@uic.edu
335
336
NHANES National Health and Nutrition Examination Survey

PubMed Publications in Medicine (US National Library of Medicine)
17.1Introduction
Most scholars agree that secondary conditions are
preventable and are causally related to a primary
disabling condition. However, the scope of what
is considered to be a secondary condition has
not been uniformly defined and has ranged from
physical comorbidities to broader health care accessibility issues that can lead to poorer health
and disparities among people with and without
disabilities. With this debate about secondary condition definitions comes a need to operationalize
them so researchers, clinicians, and public health
program officials can effectively measure and prevent these conditions through education, advocacy, and policy changes. The purpose of this chapter is to: (1) explore the variability in secondary
condition definitions, (2) identify the types of secondary conditions published in the peer-reviewed
literature for specific populations of youth, and
(3) discuss the importance of secondary condition
prevention efforts in improving quality of life for
children and youth with disabilities.
17.1.1Secondary Condition
Definitions
Marge (1988) first stated that people with disabilities are at significant risk for additional
or secondary disabilities (see also Institute of
Medicine [IOM] 2007, p.140). Pope (1992) defined secondary conditions as any additional
physical or mental health condition that is causally related to a primary disabling condition
(p.347). Since these initial definitions, there has
been a debate about what constitutes a secondary condition. Some views favor a narrow scope
of identifying secondary conditions as primarily physiological in nature. Examples of these
secondary conditions would include pressure
sores, urinary tract infections, and decondition-
J. L. Rowland
ing. Other broader views of secondary condition

definitions include environmental factors such as
access to health services and structural barriers
located within the environment that affect the
health status of people with disabilities. Counter
to this view is that environmental barriers actually represent issues of limited participation, not
secondary conditions. Those who argue for the
narrower definition point out that when secondary conditions are thought of as expanding to
include the larger issues of disability, this broad
scope dilutes the larger need to promote access,
modify attitudes, and increase societal participation. However, others point out that environmental barriers represent conditions affecting
the health status of people with disabilities and
therefore fall within a broad definition of secondary conditions. This broad definition is supported by the Healthy People 2010 Report (U.S.
Department of Health and Human Services 2000,
Chap. 6, Disability and Secondary Conditions),
which lists secondary conditions as medical,
social, emotional, family, or community problems that a person with a primary disabling condition likely experiences.
What is needed is a clear way in which to
define secondary conditions, which has not yet
been determined based on differences within the
literature. For example, some researchers include
psychosocial factors such as feelings of being
isolated and problems getting around in the
definition of secondary conditions, whereas others adhere to a strictly body systems/structures
(medical) definition. Some difficulties such as
problems getting around could be attributed
to internal problems such as muscular atrophy
and fatigue, or to environmental conditions such
as difficulty accessing a transportation system.
Missing from the literature is scientific evaluation of secondary conditions in ways that allow
for evidence-based practice using tested prevention interventions. A universal definition of secondary conditions would contribute to this level
of examination and would allow for comparison
of results across studies and populations.
Despite these differences, there are common
elements of secondary condition definitions:
(1) (have) a causal relationship to the primary
condition, (2) may be preventable, (3) may vary
337
17 Secondary Conditions in Youth with Disabilities
in its expression and the timing of its expression,

(4) may be modified, and (5) may increase the
severity of the primary condition (Turk 2006).
As is discussed in the IOMs 2007 report The
Future of Disability in America, secondary condition risk is dependent on an individuals primary disabling condition and therefore the risk of
secondary conditions will differ among people.
The IOM report also points out that behavior,
lifestyle, and biological factors for a particular
individual can affect the potential for developing participation restrictions, activity limitations
or additional impairments as a result of a particular secondary condition. There are important
distinctions between secondary conditions and
other types of health conditions. As previously
mentioned, a hallmark of secondary conditions
is that they are preventable. Other conditions
include associated conditions, defined by Turk
(2006) as being aspects or features of the primary
condition and include expected elements of its
pathology. Comorbidity is another term to be distinguished from secondary conditions in that they
develop independently of the primary condition.
Examples include development of skin cancer by
a person diagnosed with a traumatic brain injury
(IOM 2007).
17.1.2Common Secondary Conditions

Secondary condition risk is different for individuals with disabilities depending on their primary
disabling condition. To explore these differences,
the following selective literature review identifies types of secondary conditions published in
the peer-reviewed literature for youth with disabilities. Each article will be discussed separately
and is referenced in Table17.1.
17.1.3Selective Review of the

Literature on Secondary
Conditions and Youth
with Disabilities
Given the broad scope of secondary conditions
and the diversity of youth with various disabling
conditions, the review on this topic was limited

to searches in PubMed, CINAHL, ERIC, and Social Work Abstracts databases for peer-reviewed
articles published within the past 10 years and
included variations of the terms secondary conditions and youth/children with disabilities, and
specific disability groups (i.e., cerebral palsy
[CP], spina bifida). Reference lists of articles located through these searches provided additional
relevant citations on these topics.
17.2Obesity
In recent years, obesity has become more commonly reported as disproportionately affecting
youth with disabilities as compared with their
nondisabled peers (Rimmer etal. 2010; Rimmer
etal. 2007; Yamaki etal. 2011). This health risk
can led to a greater number of obesity-related
secondary conditions (e.g., fatigue, pain, deconditioning, social isolation, difficulty performing
activities of daily living) and can impose significant personal and economic hardship on activities and social factors within the individual and
family. It has also been documented that people
with disabilities are more likely to be sedentary
and experience substantially more barriers to
physical activity participation compared to the
general population. These sedentary behaviors
are likely to be higher among youth with disabilities because of physical, sensory, and/or cognitive impairments that make it more difficult to
participate in competitive sports and recreational
activities, youth with disabilities may avoid more
physically demanding activities that require higher energy expenditure (i.e., soccer, basketball)
and are therefore likely to have greater amounts
of time (i.e., after school, weekends) spent in sedentary behaviors (Rimmer and Rowland 2008).
Secondary conditions associated with a primary disability can also adversely impact a
youths ability to participate in moderate to
vigorous physical activity. For example, many
youth with CP and spina bifida experience joint
and muscle pain resulting from the long-term effects of spasticity or overusing muscle groups
necessary for manually pushing a wheelchair or
using crutches to ambulate. Low physical fit-
N=review of 38 articles; diagnosis: range of

disabilities (physical and intellectual);
age: not noted
N=748; diagnosis: varied disabilities;
age: 018
N=137; diagnosis: cerebral palsy;
age: 218 years
N=88; diagnosis: acquired brain injury;
age: between 2.417.7 years
N=13,917 total high-school students
(10.3% had disabilities); diagnosis: physical
disability or long-term health problem;
age: 9th12th grade
N=1,128; ages: 617.9 years; children included
in analysis either had a physical limitation
(impaired ability to walk, run, or play), learning
disability, attention-deficit disorder, or received
special education or early intervention services
N=140; ages: 318; diagnosis: ADHD or
autism spectrum disorder
Reinehr etal. 2010
N=20; diagnosis: Down syndrome;

age: 511 years old
N=10 studiesa; diagnosis: intellectual
disabilities; age: children and adolescents
Luke etal. 1996
Maano 2011
N=98 children; diagnosis: intellectual

disabilities; age: 218 years
De etal. 2008
Curtin etal. 2005
Bandini etal. 2005
Jones and Lollar 2008
Patradoon-Ho etal. 2005
Hurvitz etal. 2008
Vlez etal. 2008
Population
N=dependent on survey; diagnosis: range of
disabilities (physical and intellectual);
age: dependent on survey
Reference
Rimmer etal. 2007
Table 17.1 Obesity and youth with disabilities
Retrospective chart review of children who

sought care at a tertiary care clinic that
specializes in working with children with
developmental, behavioral, or cognitive
disabilities
Retrospective chart review from a diagnosis
and assessment service for children and adolescents with developmental disabilities
Clinical Research Center at the University
of Chicago Medical Center
Review of ten studies
19992002 National Health and Nutrition

Examination Survey (NHANES)
Records from a free rehabilitation clinic in

Punta Arenas, Chile
Pediatric rehabilitation clinic in an academic
medical center
Brain injury clinic at a tertiary pediatric
hospital
2005 North Carolina Youth Risk Behavior
Survey in which they sampled high school
students about their health risk behaviors
Data
Analysis of multiple studies: 19992002
National Health and Nutrition Examination Survey (NHANES), 2005 Youth Risk
Behavior Survey
Review of 38 studies
Obesity; overweight
Obesity; low vitamin/nutrient intake
Overweight; obese
Overweight
Overweight
Overweight; extended periods of sadness; suicide ideations or attempts
Overweight; obesity
Overweight; underweight
Overweight; obesity; morbid obesity
Overweight; obesity
Overweight; obesity
338
J. L. Rowland
N=461; diagnosis: intellectual/developmental

disabilities; age: 1218 years
Rimmer etal. 2010
Other secondary conditions in youth with disabilities

Decoufl and Autry 2002
N=1,068; diagnosis: cerebral palsy, mental
retardation, epilepsy, and hearing or vision
impairment; age: 10 years
Ko etal. 2006
N=19 kids with cerebral palsy with tx of fracture (control group, N=90 kids with cerebral
palsy with no tx of fracture); diagnosis: cerebral
palsy; age: 4 years, 5 months, 18 years, 11
months
Cardiovascular disease; neurological disease;

epilepsy; oesophagitis; infections; asthma
Femur fracture; tibia/fibula fracture
Cohort of children from the National Death

Index, CDC (19851995)
Residential rehabilitation setting in Hong
Kong
Web-based surveys completed by parents

of children with disabilities in the United
States
Asthma; high blood pressure; high cholesterol;

diabetes; depression; liver or gallbladder; low
self-esteem; preoccupation with weight; Blounts
disease; early maturation; GI problems; sleep
apnea; bone or joint pain; fatigue; pressure
ulcers
High blood pressure; diabetes; preoccupation
with weight; early maturation; asthma; high
cholesterol
Overweight; obese; underweight; hypertension;

elevated triglycerides
Overweight; lower levels of physical fitness
Overweight; obese; underweight; spinal abnormalities; limb abnormalities
Data
Obesity
Surveys were given at nine self-contained
special education schools in central Scotland
in 1997
Children were recruited from three special

education programs and received a physical
examination funded by the Bureau of Health
Promotion in Taiwan
Lin etal. 2010b
N=856; diagnosis: intellectual disabilities; age: School health charts of children in special
education in Taiwan
1518 years
Children from eight special education proFrey and Chow 2006
N=44; diagnosis: mild intellectual disability;
grams in Hong Kong where their health and
age: 618 years
physical fitness were tested
Obesity-related secondary conditions in youth with disabilities
Yamaki etal. 2011
N=208; diagnosis: varied disabilities (mobility Convenience sample of youth and parents
and nonmobility limitations); age: 1218 years who filled out web-based surveys
Lin etal. 2010a
Population
N=206; diagnosis: intellectual disability (had
to be ambulatory and excluded diagnoses such
as Down syndrome and PraderWillis where
increased obesity risk is known); age: average
age: 13.3 years old
N=822; diagnosis: intellectual disabilities; age:
1518 years
Reference
Stewart etal. 2009

339
N=364; diagnosis: cerebral palsy (GMFCS III,

IV, V); age: not noted in abstract
N=n/a (review article); diagnosis: cerebral
palsy; age: children (age not specified)
N=review of 13 studies; diagnosis: spina

bifida; age: dependent on study
Stevenson etal. 2006
Simeonsson etal. 2002
Swiggum etal. 2001
Population
N=14,947; diagnosis: cerebral palsy;
age: 018 years
Reference
Murphy etal. 2006

Data
Kids inpatient database (KID) which documents information on pediatric hospitalizations from 2,521 US hospitals in 22 states
and includes 1.9million discharge records
on sociodemographic, vital statistics, treatment, and outcome information
Multicentre, region-based longitudinal study
of growth, nutrition, and health
Review article on pain in children with
cerebral palsy, available pain assessments,
and recommendations for pain management
Review of 13 studies
Spinal curvature such as scoliosis, kyphosis, or
kyphoscoliosis; neurogenic bladder; hydronephrosis; paraplegia; tethered spinal cord; latex
allergies; seizures; anesthetic skin; pressure
sores (decubitus ulcers); obesity; precocious
puberty; short stature; decreased visual acuity;
may have difficulty with tactile perception,
auditory concentration, perceptual organization, visual-motor integration, and fine motor
skills; short attention span, intellectual delay,
distractibility, and delays in the development of
self-help; sleep difficulties
Pain
Respiratory disorders; disorders of the nervous
system (seizures, spasticity, hearing and vision
impairments, strabismus and hydrocephalus);
disorders of the musculoskeletal system; disorders of the digestive system; disorders of the
nutrition/endocrine/metabolic system
Fractures
340
J. L. Rowland
ness, balance impairments, and poor coordination skills also make it more difficult for youth
with disabilities to participate in team sports
with their nondisabled peers (Rimmer and Rowland 2008).
17.2.1Obesity and Youth with

Disabilities
17.2.1.1Rimmer etal. (2007): Obesity
and Secondary Conditions in
Adolescents with Disabilities:
Addressing the Needs of an
Underserved Population
The Department of Disability and Human Development at the University of Illinois at Chicago with support from the US Department of
Education, National Institute on Disability and
Rehabilitation Research addressed the importance of responding to the causes of obesity
and the prevention of secondary conditions in
adolescents with disabilities. A review of the
literature shows that children and adolescents
with physical and cognitive disabilities have a
higher prevalence of overweight compared to
their peers without disabilities. Overweight is
a health risk that may lead to many secondary
conditions that impact health and quality of life,
such as fatigue, pain, deconditioning, social isolation, difficulty in performing daily activities of
living, and can create an economic and personal
hardship on the individual and family. The authors call for the creation of innovative ways to
reduce and prevent obesity among adolescents
with disabilities as they transition to adulthood.
As a first step, the field must identify accurate
measures that can be used to identify obesity
among people with paralysis, paresis, or other
significant disability that prevents the usefulness of most commonly utilized measurement
tools. Any resulting treatment strategy should be
based on empirical findings that systematically
identify key factors that lead to higher levels
of obesity among those with disabilities. These
may include such key areas as genetic, dietary,
knowledge, physical activity, medication, and
environmental factors. Any resulting guidelines
should identify weight management strategies
341
for youth with disabilities that are interesting

and relevant to the individuals, cost effective
and proven to work.
17.2.1.2Reinehr etal. (2010): Obesity

in Disabled Children and
Adolescents: An Overlooked
Group of Patients
A review of 38 published studies was undertaken
to assist in the ongoing debate concerning the
relationship between obesity and disability diagnosis. These studies reported that the prevalence
of overweight and obesity in children with disabilities is almost twice that found among their
nondisabled peers. However, no effective, longlasting interventions for prevention or treatment
of obesity in this population were found. The
authors conclude that effective strategies for prevention and management are urgently needed.
17.2.1.3Vlez (2008): Nutritional Status
and Obesity in Children and
Young Adults with Disabilities
in Punta Arenas, Patagonia,
Chile
Childhood obesity has been identified as a problem in this isolated region of Chile, as well as
in other places around the world. However, there
were little data in this region on comparisons of
the health status of children with and without
disabilities. To document the prevalence of nutritional status among children with disabilities
the medial records of 748 children receiving
physical therapy during 20052006 at a private
rehabilitation clinic in Chile were systematically
reviewed for demographic, clinical, and anthropometric data. As a comparison, the height and
weight were also collected from 215 students
without disabilities attending local schools.
Nutritional status was calculated as body mass
index (BMI; age 6 years and older) or evaluated
by growth curves for those subjects below the
age of 6 years. Categories of nourishment were:
(1) undernourished, (2) normal range, (3) overweight, (4) obese, and (5) morbidly obese. Findings of the study include a significant difference
in nutritional status between children with and
without disabilities in the study, with a bimodal
presentation of children with disabilities who
342
were more likely to be either undernourished or

obese. Risk factors for obesity included increasing age in the subject and living with a grandparent. Children with developmental disabilities
were found to be obese at a rate twice that for
nondisabled peers. Children with CP were less
than half as likely to be obese than were nondisabled peers. While overnutrition is a problem for
youth with and without disabilities in this region
of Chile, youth with disabilities were more likely
to be either over- or undernourished compared to
peers without disabilities. Programs to increase
physical activity levels and improve nutrition are
needed in this isolated part of the world.
17.2.1.4Hurvitz etal. (2008): BMI

Measures in Children with
CP Related to Gross Motor
Function Classification:
A Clinic-Based Study
A retrospective chart review was conducted to
collect height/weight data in a pediatric rehabilitation clinic. Subjects were a census of all patients
between the ages of 2 and 18 years who presented
at the clinic during a 3-month period. Data were
collected on age, gender, height, weight, and use
of seizure medications, which can affect bone
density and therefore weight, feeding method,
and functional information as recorded in their
clinic notes. For patients who were able to stand,
height was measured with a standard height rod.
In patients who were not able to stand, height was
measured using a tape measure with the patient
lying on an examination table. The Centers on
Disease Prevention and Control-published (CDC)
BMI tables were utilized to categorize subjects
as: (1) underweight (<5th percentile), (2) normal
(5th85th percentile), (3) at risk for overweight
(86th95th percentile), or (4) overweight (>95th
percentile). Results of the prevalence study were
18.2% of subjects who met the criteria for overweight and 10.9% of subjects who were at risk
for overweight for a total of 29.1% of subjects
with BMI above the CDC-published range for
normal BMI.
Ambulatory subjects showed a significantly
higher prevalence of overweight compared to
nonambulatory subjects across the genders and
ages. Underweight was most prevalent among
J. L. Rowland
nonambulatory subjects. There was no significant difference found between subjects who were
fed by gastronomy tube and those who were not.
Future studies should address four issues related
to this problem: (1) identification of an accurate
measurement of body composition among this
population; (2) clearly stated medical consequences for overweight among those with CP;
(3) causal factors for overweight; and (4) the relationship between level of physical activity and
obesity in CP populations, along with protocols
for increase access to exercise for people with
CP.
17.2.1.5Patradoon-Ho etal. (2005):

Obesity in Children and
Adolescents with Acquired
Brain Injury
This Australian study sought to measure the
prevalence of obesity among children and adolescents with Acquired Brain Injury (ABI).
A cross-sectional study of 88 subjects between
the ages of 2.4 and 17.7 years who attended the
Brain Injury Clinic at a tertiary pediatric hospital
was undertaken. The prevalence of obesity in the
population was found to be 15%, which is higher
than among children and adolescents in Australia without disability, as was the prevalence of
overweight found to be 19.3%. A linear trend
for higher BMI with increasing levels of mobility was observed, although it was not statistically
significant.
17.2.1.6Jones and Lollar (2008):
Relationship Between Physical
Disabilities or Long-Term
Health Problems and Health
Risk Behaviors or Conditions
Among US High School
Students
The aim of this study was to explore the relationship between a self-report of physical disability
and health risk behavior among randomly selected 13,917 adolescent respondents in grades 912.
Data weighted for proportions of students in
each subject category (race, gender, and grade)
obtained from the Centers on Disease Prevention and Control Youth Risk Behavior Survey
(YRBS) were analyzed to determine prevalence
of six categories of priority health risk behaviors,

including: unintentional injury and violence, tobacco use, alcohol and other drug use, sexual behaviors that contribute to unintended pregnancy
and sexually transmitted diseases, unhealthy
dietary behaviors, and physical inactivity. Overall, about half of the respondents were female,
62% were white, 15% were black, and 15% were
Hispanic, and one respondent in ten (10.3%) reported having a physical disability. Results of the
study demonstrated that adolescents with disabilities or chronic illness were as likely or more
likely to engage in health risk behaviors. Almost
twice as many students with physical disabilities or chronic conditions reported that they felt
sad or hopeless almost every day for 2 weeks or
longer, and that they stopped doing some of their
activities due to these feelings. Twice as many respondents with disabilities or chronic conditions
reported seriously considering suicide during the
12 months preceding the survey and they were
almost three times as likely to report having previously attempted suicide. The findings of this
study indicate the need for programs and services
to prevent and treat mental and emotional distress.
17.2.1.7Bandini etal. (2005):

Prevalence of Overweight in
Children with Developmental
Disorders in the Continuous
National Health and Nutrition
Examination Survey
The University of Massachusetts Medical School,
Eunice Kennedy Shriver Center at Boston University, The Friedman School of Nutrition, Science and Policy at Tufts University, and The Department of Public Health and Family Medicine
at Tufts University School of Medicine used data
derived from the National Health and Nutrition
Examination Survey (NHANES) of 19992002
to estimate the prevalence of overweight in children with developmental disorders. In the basic
protocol, randomly selected subjects are interviewed in their own homes and body weight/
height data are collected at a mobile examination
center. Children who are not able to stand are not
measured. Children with developmental disabilities are identified through a set of four questions.
343
The age limit established for analysis in this

study was limited to those children between ages
6 and 14.9 years whose interviews were positive
for diagnosis of any developmental disability.
BMI was calculated using the tables and terminology published by Centers on Disease Control
and Prevention. In the 19992002 dataset, four
questions identified 1,128 subjects between the
ages of 6 and 14.9 years. Of these, 654 (57.9%)
had either a physical limitation, attention-deficit
disorder, learning disability, or received Special
Education or Early Intervention services.
Of the 1,128 subjects in this study, 327 (28.9%)
met two of the criteria, 133 (11.8%) met three of
the conditions, and 14 subjects (1.2%) met all
four of the conditions. Study limitations include
incomplete data collection methods, which failed
to report a number of potential subjects since
height/weight data were unavailable. In addition,
it is not known how many subjects with developmental disabilities might have participated in
the survey due to random selection, but declined.
Despite these limitations of the study, findings
provided interesting data that will lead to narrowing the research questions for future studies.
Specifically, when stratified by gender and age
group, a significantly lower prevalence of overweight was observed in boys aged 914 years
than in girls. Boys with attention-deficit hyperactivity disorder (ADHD) of this age were significantly less likely to be overweight than were
boys of the same age without ADHD. In contrast,
girls with ADHD did not differ from other girls in
prevalence of overweight or at risk categories.
Both boys and girls with learning disabilities (LD) had a higher prevalence for both at
risk for overweight and overweight than did
children without LD. Further studies may well
address the role played by levels of physical activity and weight; and to establish validity for the
BMI calculation on children with physical disabilities. The study also recommends that since
children with developmental disabilities appear
to share the same risk of developing secondary
health conditions as a result of overweight as are
their peers without developmental disabilities,
educational and healthcare providers should develop health promotion efforts specifically for
this population.
344
17.2.1.8Curtin etal. (2005): Prevalence

of Overweight in Children and
Adolescents with ADHD and
Autism Spectrum Disorders:
A Chart Review
The Eunice Kennedy Shriver Center at the University of Massachusetts Medical School, the Division of Developmental-Behavioral Pediatrics
at Tufts-New England Medical Center and the
Department of Public Health and Family Medicine conducted a retrospective chart review to
determine the prevalence of overweight among
children diagnosed with ADHD and Autism
Spectrum Disorders. Selection for inclusion
in the study occurred by a systematic review
of every fifth chart, in alphabetical order, from
among the files available in the Tufts-New England Medical Center clinic, limited to the files
of children who were seen between the years of
2002 and 2003. Only charts that contained a diagnosis of ADHD or Autism Spectrum Disorder
and which also contained complete information
on height, weight, and age were admitted to the
study. A total of 140 charts met conditions for
entry to the study.
Of the 140 charts studied, 98 charts provided
documentation on children who had a diagnosis
of ADHD and 42 charts contained information
on children with Autism Spectrum Disorder. The
BMI was calculated from measurements of the
childs height and weight at the first office visit
and compared to the Center on Disease Controls
BMI growth reference chart to the nearest month
of age. The definition for at risk for overweight
was a BMI for age at the 85th percentile, whereas
the definition overweight was given to those
children whose BMI was at the 95th percentile.
Results of the study were that 29% of children
with ADHD were at risk for overweight while
17.3% were overweight. Among children with
Autism Spectrum Disorder, 35.7% of children
were found to be at risk for overweight while
19% of children with this diagnosis were overweight. Children taking stimulant medication
were only half as likely to be overweight as those
not taking medications. None of the children taking stimulant medications were underweight,
although some 16% of the children not taking
J. L. Rowland
stimulants fell into that category. The authors

recommend follow-up studies address the potential burden of managing potential comorbidities
associated with obesity that may be specific to
the population of children with developmental
disabilities.
17.2.1.9De etal. (2008): Overweight

and Obesity Among Children
with Developmental
Disabilities
In order to determine the prevalence of overweight and obesity in children with developmental disabilities attending an Australian metropolitan Diagnosis and Assessment Service, a
retrospective chart review was conducted for 98
children (67 male) aged 218 years. Reviewers
compiled data on age, sex, weight, height, and severity of intellectual disability (ID) or global developmental delay from the standard medical records. Using the clinical chart data, BMI, weight/
height2 was calculated, and overweight and obesity defined using standard international criteria.
The findings indicated that 24% of the children
were overweight and a further 15% were obese
(i.e., a total of 40% either overweight or obese),
which is significantly higher than the prevalence
rate for Australian school children in the New
South Wales Schools Physical Activity and Nutrition Survey (SPANS) 2004, which found that
17% were overweight (p=0.05) and 6% were
obese (p=0.0003) (i.e., 23% either overweight
or obese, p=0.0001). The study supported earlier
reports that prevalence of overweight and obesity
is higher among children with developmental
disabilities than in the general population. The
results highlight a need for larger studies of the
population that can be utilized to develop early
identification and management of excess weight
gain for this group.
17.2.1.10Luke etal. (1996): Nutrient
Intake and Obesity
in Prepubescent Children
with Down Syndrome
This study was conducted in the Clinical Research Center at the University of Chicago Medical Center. The research study was to create a
baseline of nutrient intake and body composition in prepubescent children with a diagnosis of
Down syndrome with the goal of learning how
dietary barriers may be involved in the prevention and treatment of obesity among children
with Down syndrome. Subjects were 10 children
between the ages of 5 and 11 years, recruited at
the University of Chicago Wyler Childrens Hospital, LaRabia Childrens Hospital, and through
the National Associate for Down syndrome.
The children in the study were matched with 10
similar children without the diagnosis of Down
syndrome. Methodology of the study centered
on a series of 3-day diet records and collection
of urine samples for all 20 subjects. Energy intake was compared with energy expenditure as
measured by the doubly labeled water method.
In this method, an oral dose of O- and deuterium-labeled water was given to the subjects and
parents collected the first urine of the day twice
during the 14-day period.
After all data were turned in by the subjects,
nutrient intakes were compared with the Recommended Dietary Allowances to estimate risk
for nutrient deficiency. Fat-free mass values
were analyzed by bioelectrical impedance and
measures of skin-fold thicknesses were compared with values determined via the deuterium
dilution method. Results were that subjects with
Down syndrome diagnoses were significantly
shorter in height than were controls; however,
body composition was not found to differ between the two groups. According to the analysis of the diet records kept by subjects parents
during the study, energy intake was lower in the
subjects who had a diagnosis of Down syndrome.
Unexpectedly, it was found that nonobese subjects with Down syndrome tended to consume
too few (<80% of the recommended amount)
of specific micronutrients. Study outcomes lead
to a recommendation that to avoid lowering already inadequate intakes of several vitamins and
minerals, treatment of obesity in children with
Down syndrome should combine a balanced diet
without energy restriction, with supplementation
of vitamin and minerals and increased levels of
physical activity.
345
17.2.1.11Maano (2011): Prevalence

and Risk Factors
of Overweight and Obesity
Among Children
and Adolescents
with Intellectual Disabilities
This literature review sought to identify prevalence and risk factors for overweight among
children with Intellectual Disabilities (ID). Ten
studies providing original data on this topic were
included for review. Outcomes were sought on
prevalence and on eight additional parameters
of interest: (1) Gender, (2) Age, (3) Severity of
ID, (4) Genetic syndromes, (5) Medication use,
(6) Type of disability, (7) Socioeconomic status, and (8) Ethnicity. All studies examined the
prevalence of obesity among young persons with
a diagnosis of ID. Overall, between studies the
prevalence ranged from 7 to 36%. The association between gender and obesity among children
with ID was inconclusive; for Age and obesity;
findings revealed significant increases in rate of
obesity with increasing age through childhood
and into adolescence; for Severity of disability
and obesity findings were not significant; for
Genetic syndromes and obesity, the associations were inconclusive; for Medication use and
obesity, the findings were inconclusive; for Type
of disability the associations were not significant;
for socioeconomic status no significant relationship was identified; and for Ethnicity there was
no significant association. While published studies reveal significant secondary health problems
related to obesity, findings remain preliminary
and highlight the need for future research in this
area.
17.2.1.12Stewart (2009): High
Prevalence of Obesity
in Ambulatory Children
and Adolescents with ID
The study was designed to estimate obesity prevalence in ambulatory children and adolescents
with ID. A survey of nine schools for children
and adolescents with mild-to-moderate ID was
conducted in Scotland. The number of children
served in the nine schools was 206, with 150
(73% male). Obesity was defined as a BMI of
346
95% or greater relative to the UK reference data.

Obesity prevalence among the 206 students was
36%, and was significantly higher among students attending secondary schools compared to
primary schools. The prevalence for obesity was
significantly higher for children with ID compared to peers without ID. This local study supports the findings of previous and larger studies
that recommend greater emphasis on surveillance
of obesity in children and adolescents.
17.2.1.13Lin etal. (2010a): Spinal

and Limb Abnormalities
in Adolescents with
Intellectual Disabilities
This study from Taiwan was designed to identify prevalence of overweight and spinal or limb
abnormalities in adolescents aged 1518 years
with intellectual disabilities. A total of 822 youth
with ID were given health exams as they enrolled
into Special Education schools. Results were that
14.5% of enrollees had spinal abnormalities and
8.5% had limb abnormalities. Gender, disability
level, and spinal abnormalities were found to statistically correlate to presence of limb abnormality and higher BMI.
17.2.1.14Lin etal. (2010b):
Hypertension, Hyperglycemia,
and Hyperlipidemia Among
Adolescents with Intellectual
Disabilities
Another Taiwanese study assessed the prevalence of hypertension, hyperglycemia, and hyperlipidemia in adolescents with ID in three
Special Education schools in Taiwan. Results
of a cross-sectional medical chart review of 856
students revealed that 11.7% of the cases had a
diagnosis of hypertension. Biochemical analysis
results showed that elevated or abnormal rates of
triglyceride (9.1%), total cholesterol (1.1%), and
fasting plasma glucose (0.3%) were identified,
the first two of which were significantly higher
than prevalence in the general population of
same-age youth. Body Mass significantly correlated with hypertension and elevated triglyceride
findings.
J. L. Rowland
17.2.1.15Frey and Chow (2006):

Relationship Between BMI,
Physical Fitness, and Motor
Skills in Youth with Mild
Intellectual Disabilities
Researchers investigated the prevalence of
overweight and obesity among youth with ID,
by recruiting a stratified sample of 444 youths
with Mild ID aged 618 years from eight special education schools in Hong Kong to document whether youth with Mild ID differ in any
important ways from the general population of
youth with ID. Physical fitness was assessed
using items from the national Hong Kong fitness assessments for either ages 68 years or for
those 918 years of age. Youth were assessed for
a 1-minute run, sit-ups, isometric push-ups, sit
and reach, and sum of skinfold. Functional motor
skills were further assessed in 244 youths from
this sample using the Test of Gross Motor DevelopmentII. International cut-off points were
utilized to identify those who were overweight
or obese. Findings were an identification of 2%
of the population as overweight/obese. However,
overweight/obesity was minimally associated
with aerobic fitness and muscular strength in
youth with Mild ID. BMI range was not found to
impact other fitness measures such as sit-up, sit
and reach, or motor skills in this sample.
17.2.2Obesity-Related Secondary
Conditions in Youth
with Disabilities
In addition to the articles focusing on obesity
prevalence and measurement among youth with
disabilities, another tier of articles was identified
through the selective review process that focused
on obesity-related secondary conditions in youth
with disabilities. Those articles are discussed
here and are also referenced in Table17.1.
347
17.2.2.1Yamaki etal. (2011): Prevalence

of Obesity-Related Chronic
Health Conditions
in Overweight Adolescents
with Disabilities
This 32-item web-hosted survey included a
total of 32 items in the following categories: (1)
eight items related to the environmental (traffic,
crime, availability of accessible fitness centers,
and food in the home), (2) two items related to
participation (use of leisure time), (3) four items
related to health consequences of obesity, and
(4) 18 items derived from national- and statelevel health surveys. A convenience sample of
643 family members of adolescents residing in
48 states was obtained. Respondents provided
the demographic information on the adolescent
with disability, including height and weight,
which were used to compute BMI for comparison between groups during analysis. Findings
of this study provide additional support to published reports indicating that overweight adolescents with disabilities are at a higher risk for
developing obesity-related chronic health conditions compared with healthy-weight counterparts. Specifically, asthma was reported at higher prevalence for same-age peers in the general
population, and presence of asthma was greater
for overweight youth with disabilities than for
youth of healthy weight with disabilities. The
overweight adolescents in the study also exhibited higher rates of diabetes than those of healthy
weight. There was also a higher prevalence of
depression and low self-esteem found among the
overweight adolescents in both the mobility and
nonmobility groups of respondents. These findings support previously published national prevalence figures of obesity among adolescents, and
underscore the published health risks that excessive body weight imposes on already vulnerable
young people.
17.2.2.2Rimmer etal. (2010): Obesity

and Obesity-Related Secondary
Conditions in Adolescents with
Intellectual/Developmental
Disabilities
Since children and adolescents with diagnoses
of disabilities are known to have a higher prevalence of overweight compared to peers without
disabilities, their future health depends upon the
prevention of development of secondary conditions. The health risks chiefly come from the
types of secondary conditions that develop due
to obesity, such as fatigue, pain, deconditioning, social isolation, difficulty performing activities of daily living, as well as serious conditions in cardiovascular health. The challenge
to health professionals and researchers is to find
and disseminate innovative ways to reduce and
prevent obesity among young people with disabilities. Since it is known that lifestyle habits
are developed during the adolescent stage of life,
this short time period may be the last window of
opportunity to create a personal commitment to
a healthy lifestyle among adolescents with disabilities. Clearly, there is a lack of knowledge
in the healthcare and service community on
what would constitute an effective intervention
for weight management for this population. The
new strategies must be cost-effective, culturally
and functionally relevant, as well as attractive to
youth. Since obesity is most likely the result of
a complex interaction of conditions, both personal and environmental (such as genetics, diet,
knowledge, physical activity level, medication
history, neighborhood, fitness center, and programmatic access) the resulting plan to alleviate
obesity must be adequately complex and address
all contributing factors.
17.2.3Other Secondary Conditions

Although most of the recent research identified
from the selective review focused on obesity and
obesity-related secondary conditions, there are a
few additional articles that identified other types
348
of secondary conditions in youth with disabilities. Those articles are described here and are
also referenced in Table17.1.
17.2.3.1Decoufl and Autry (2002):

Increased Mortality
in Children and Adolescents
with Developmental
Disabilities
A population-based cohort of 10-year-old Atlanta children with diagnoses of mental retardation,
CP, epilepsy, hearing impairment, or vision impairment were followed up in 2010 for mortality
and cause of death between the ages of 10 and
20 years, for comparison to deaths among the
same-age population in the United States. The
objective was to quantify the magnitude of previously reported increased mortality among
the group with disabilities and to evaluate the
contribution of specific disabilities to mortality among children and adolescents with one or
more of five developmental disabilities. A total
of 30 deaths among the cohort with developmental disabilities, yielding an observed to expected mortality ratio of almost 3 to 1. Ratios
were statistically significant in children with
three or more coexisting disabilities and the severity of the disability. An exception to this pattern was an increased mortality among children
with cardiovascular disease. The primary cause
of death among the developmental disability
(DD) population was infection, asthma, and seizure, rather than injury, accident, and poisonings, which were the primary cause of death for
nondisabled persons of the same age in the general population.
17.2.3.2Ko etal. (2006): Risk Factors
of Long-Bone Fracture in
Nonambulatory CP Children
Fracture of the long bone is a common problem
(prevalence rate of 20%) among nonambulatory
children with a diagnosis of CP. It has variously
been suggested that fracture is related to a number of contributing causes, including low weight,
low nutrition due to slow oral feeding, immobilization, low musculoskeletal status caused by
lack of weight-bearing exercise, medications to
J. L. Rowland
control seizures, and poor pulmonary condition

including the need for mechanical ventilation
and/or reoccurring chest infection. In this study
at a residential unit for children with CP and ID
in Hong Kong, 200 subjects (study group n=19,
60% male, mean age 10 years) were evaluated for
bone fracture. A control group (n=90, 50% male,
mean age 10 years) comprised children who had
CP and resided in the same institution, but who
did not have a history of long-bone fracture. Support was provided for a complex causality involving a number of contributing causes including low weight, low nutrition due to slow oral
feeding, immobilization, low musculoskeletal
status caused by lack of weight-bearing exercise,
medications to control seizures, and poor pulmonary condition including the need for mechanical ventilation and/or reoccurring chest infection.
The authors concluded that early intervention targeting these established risk factors may reduce
fracture risk among nonambulatory children with
CP.
17.2.3.3Murphy etal. (2006): Costs

and Complications of
Hospitalizations for Children
with CP
This study comprises a statistical analysis of the
Healthcare Utilization Project Kid Inpatient Database, a weighted survey of pediatric discharges from US hospitals in 1997. In particular, the
37,000 children with CP who were hospitalized
during 1997 were studied for costs and complications. The cost of the hospitalizations for children with CP was around US$ 600 million in
1997 dollar values. Children with CP stayed longer than other children (average of 6.3 days vs.
4.1 days in the general population (p<0.001),
they had higher total charges (US$ 16,024 vs.
US$ 9,952, p, 0.001) more diagnoses (5.6 vs.
3, p, 0.001), and more procedures per admission compared to peers (1.7 vs. 1.1, p, 0.001).
In addition to longer stays and more expenses
per hospital stay, children with CP were more
likely to be transferred to other facilities upon
discharge or were prescribed home health care
than were other children of their ages. Respiratory needs for children with CP were the lead-
ing cause of hospitalization for this group, followed by poor nutritional status. It is the opinion of the authors that if physicians and other
clinical staff would routinely monitor children
with CP for nutritional, respiratory, and neuromuscular system status that timely interventions
provided to children with CP in the community
would reduce complications, secondary conditions, and reduce hospitalizations for this group
of patients.
17.2.3.4Stevenson etal. (2006):

Fracture Rate in Children
with CP
The goal of this study was to determine the prevalence of fracture among children with CP. Of interest was the presence of previous fracture, rate
of fracture over time, and associated risk factors
for fracture in children with moderate or severe
CP. The study sample was a census of 364 children already enrolled in a multicenter regional
longitudinal study of growth, nutrition, and
health. Of these subjects, the average age was 9.3
years. Males comprised 60% of the study sample, and most of the subjects (71%) were Caucasian. The severity of impairment according to
the Gross Motor Function Classification System
(GMFCS) included 19% classified as level III,
28% classified as level IV, and 53% classified as
level V. Of the subjects with at least one previous
fracture 46 children, 35 (76%) reported one fracture; 6 (13%) reported two fractures; and 5 (19%)
reported three previous fractures. Neither severity of the level of CP or gender was associated
with the number of fractures. However, age was
significantly associated with fracture with the
history of prior fracture being higher in older
children. Children with a history of fracture also
appeared to have less muscle mass as measured
by mid-arm muscle area. Children with greater
body fat, feeding gastrostomy, and prior history
of fracture were at highest risk for additional
fracture and may benefit the most from intervention. It is recommended that longitudinal study
and clinical trials be developed to bring about a
more thorough understanding of the factors contributing to fracture.
349
17.2.3.5Swiggum etal. (2001): Pain in

Children with CP: Implications
for Pediatric Physical Therapy
This literature review documents that pain is a
daily occurrence for many children with a diagnosis of CP, and explores some of the promising
tools for evaluating and responding to reports of
pain by children in this population. Well-known
contributors to pain are surgical and procedural
techniques, gastrointestinal, orthopedic and neuromuscular pain, and pain caused by therapies
during rehabilitation exercises and treatments.
There are a number of categories of pain assessment tools, including the self-report of pain,
physiological pain, behavioral pain, and
distress measures. Management techniques
are also divided into cognitive-behavioral methods and social environmental interventions. The
outcome of this review is emerging evidence and
support for psychosocial pain management techniques.
17.2.3.6Simeonsson etal. (2002):
Secondary Conditions in
Children with Disabilities:
Spina Bifida as a Case Example
While a disability is a primary condition that is
usually regarded as a manifestation of an underlying disease, condition or injury, it is well known
that over time conditions can develop that occur
as a complication or a sequel of the original disability. Secondary conditions have four criteria:
(1) they are the direct or indirect consequence of
an underlying primary condition, (2) they reflect
the effect of a person-environment interaction for
which the primary condition was a risk factor,
(3) the nature and extent of the expressed secondary condition is related to factors such as the
age or developmental stage of the individual, and
(4) the mediating role of the individuals personal
traits and characteristics played a role in the development of the secondary condition. The four
criteria listed above constitute a paradigm shift
in the framework of disability, once limited to
a simple medically based definition. In the new
paradigm, the specific manifestations of secondary conditions are varied, but the underlying
process is consistent with the new International
350
Classification of Functioning model in which a

condition is not seen as disabling but is defined
more concretely by the needs it presents for accommodations to remove barriers to full participation. The significance of secondary conditions
in this model is that they are preventable. The key
is to identify the mechanisms, which are associated with their development and to create effective preventative measures before they develop.
17.3Importance of Secondary
Condition Prevention
Secondary conditions can have a significant impact on the health and independence of youth
with disabilities, particularly as they transition
to adulthood. Therefore, the importance of health
promotion to reduce the risk of developing secondary conditions is paramount. Specifically,
obesity and obesity-related secondary conditions need to be addressed at an early age to instill healthy behaviors and to reduce the risk for
secondary conditions later in life for these youth.
The Surgeon Generals Report on the Health and
Wellness of People with Disabilities (U.S. Department of Health and Human Services 2005)
highlights the importance of increasing health
self-management for people with disabilities.
Systematically identifying antecedents that lead
to higher levels of obesity among youth with
disabilities is one way to reduce the obesity risk
among this population. These antecedents may
differ among disability groups, thereby making
the customization of health promotion efforts a
critical element in determining policy and program effectiveness. For example, for some youth,
personal factors such as low physical activity levels, intake of weight-gaining medications
(i.e., corticosteroids), and poor diet or nutritional
knowledge may increase the likelihood of becoming obese. For others, environmental factors
such as unsafe neighborhoods, lack of access
to accessible recreation facilities, or the lack of
affordable transportation may be key factors in
obesity development (Rimmer etal. 2007).
J. L. Rowland
17.4Summary
Health promotion to reduce and prevent secondary conditions is clearly an important part of
initiating and sustaining healthy lifestyles and
promoting independence among youth with disabilities, especially as they transition to adulthood. Within this chapter, the variability in secondary condition definitions has been explored
and a selective review of peer-reviewed literature
has focused on obesity, obesity-related secondary conditions, and other secondary conditions
such as pain among youth with different types
of disabling conditions. When evaluating ways
in which secondary condition prevention efforts
may improve quality of life for youth with disabilities, one important consideration is to customize health promotion programs based on an
individuals needs. Additional research on the
dosing effects of health promotion programs such
as exercise and nutrition interventions would be
better able to focus on specific benefits if secondary condition definitions could be operationalized.
References
Bandini, L. G., Curtin, C., Hamad, C., Tybor, D. J. &
Must, A. (2005). Prevalence of overweight in children with developmental disorders in the continuous national health and nutrition examination survey
(NHANES) 19992002. The Journal of Pediatrics,
46(6), 738743.
Curtin, C., Bandini L. G., Perrin E. C., Tybor D. J. & Must
A. (2005). Prevalence of overweight in children and
adolescents with attention deficit hyperactivity disorder and autism spectrum disorders: A chart review.
BMC Pediatrics, 5, 48.
De, S., Small, J., & Baur, L. A. (2008). Overweight and
obesity among children with developmental disabilities. Journal of Intellectual & Developmental Disability, 33(1), 4347.
Decoufl, P., & Autry, A. (2002). Increased mortality in
children and adolescents with developmental disabilities. Paediatric and Perinatal Epidemiology, 16(4),
375382.
Frey, G. C., & Chow, B. (2006). Relationship between
BMI, physical fitness, and motor skills in youth with
mild intellectual disabilities. International Journal of
Obesity (London), 30(5), 861867.
Hurvitz, E. A., Green, L. B., Hornyak, J. E., Khurana, S.
R., & Koch, L. G. (2008). Body mass index measures

in children with cerebral palsy related to gross motor
function classification: A clinic-based study. American Journal of Physical Medicine & Rehabilitation/
Association of Academic Physiatrists, 87(5), 395403.
Institute of Medicine (2007). The future of disability in
America. Washington: The National Academies Press.
Jones, S. E., & Lollar, D. (2008). Relationship between
physical disabilities or long-term health problems and
health risk behaviors or conditions among US high
school students. The Journal of School Health, 78(5),
252257.
Ko, C. H., Tse, P. W., & Chan, A. K. (2006). Risk factors of long bone fracture in non-ambulatory cerebral
palsy children. Hong Kong Medical Journal, 12(6),
426431.
Lin, J. D., Lin, P. Y., Lin, L. P., Lai, C. I., Leu, Y. R., Yen,
C. F., Hsu, S. W., Chu, C. M., Wu, C. L., & Chu, C. M.
(2010a). Spinal and limb abnormalities in adolescents
with intellectual disabilities. Research in Developmental Disabilities, 31(3), 68691.
Lin, P. Y., Lin, L. P., & Lin, J. D. (2010b). Hypertension,
hyperglycemia, and hyperlipemia among adolescents
with intellectual disabilities. Research in Developmental Disabilities, 31(2), 545550.
Luke A., Sutton M., Schoeller D. A., & Roizen N. J.
(1996). Nutrient intake and obesity in prepubescent
children with Down syndrome. Journal of American
Dietetic Association, 96(12), 12621267.
Maano, C. (2011). Prevalence and risk factors of overweight and obesity among children and adolescents
with intellectual disabilities. Obesity Reviews: An
Official Journal of the International Association for
the Study of Obesity, 12(3), 189197.
Marge, M. (1988). Health promotion for persons with
disabilities: Moving beyond rehabilitation. American
Journal of Health Promotion, 2, 2944.
Murphy, N. A., Hoff, C., Jorgensen, T., Norlin, C., &
Young, P. C. (2006). Costs and complications of hospitalizations for children with cerebral palsy. Pediatric
Rehabilitation, 9(1), 4752.
Patradoon-Ho, P., Scheinberg, A., & Baur, L. A. (2005).
Obesity in children and adolescents with acquired
brain injury. Pediatric Rehabilitation, 8(4), 303308.
Pope, A. M. (1992). Preventing secondary conditions.
Mental Retardation, 30, 347354.
Reinehr, T., Dobe, M., Winkel, K., Schaefer, A., & Hoffmann, D. (2010). Obesity in disabled children and adolescents: An overlooked group of patients. Deutsches
rzteblatt International, 107(15), 268275.
Rimmer, J. H., & Rowland, J. L. (2008). Physical activity
for youth with disabilities: A critical need in an underserved population. Development of Neurorehabilitation, 11, 141148.
Rimmer, J. H., Rowland, J. L., & Yamaki, K. (2007).
Obesity and secondary conditions in adolescents with
351
disabilities: Addressing the needs of an underserved
population. The Journal of Adolescent Health: Official
Publication of the Society for Adolescent Medicine,
41(3), 224229.
Rimmer, J. H., Yamaki, K., Lowry, B. M., Wang, E., &
Vogel, L. C. (2010). Obesity and obesity-related secondary conditions in adolescents with intellectual/
developmental disabilities. Journal of Intellectual
Disability Research, 54(9), 787794.
Simeonsson, R. J., McMillen, J. S., & Huntington, G.
S. (2002). Secondary conditions in children with
disabilities: Spina bifida as a case example. Mental
Retardation and Developmental Disabilities Research
Reviews, 8(3), 198205.
Stevenson, R. D., Conaway, M., Barrington, J. W., Cuthill,
S. L., Worley, G., & Henderson, R. C. (2006). Fracture
rate in children with cerebral palsy. Development of
Neurorehabilitation, 9(4), 396403.
Stewart, L., Van De Ven, L., Katsarou, V., Rentziou, E.,
Doran, M., Jackson P. etal. (2009) High prevalence of
obesity in ambulatory children and adolescents with
intellectual disability. Journal of Intellectual Disability Research, 53(10), 882886.
Swiggum, M., Hamilton, M. L., Gleeson, P., & Roddey, T.
(2001). Pain in children with cerebral palsy: Implications for pediatric physical therapy. Pediatric physical therapy: The official publication of the section on
pediatrics of the American Physical Therapy Association, 22(1), 8692.
Turk, M. A. (2006). Secondary conditions and disability.
In M. J. Field, A. M. Jette, & L. Martin (Eds.), Workshop on disability in America: A new look (pp.185
193). Washington: The National Academies Press.
U.S. Department of Health and Human Services (2000).
Healthy People 2010: Understanding and improving
health (2nd ed.). Washington: U.S. Government Printing Office.
U.S. Department of Health and Human Services (2005).
The Surgeon Generals call to action to improve
the health and wellness of persons with disabilities.
Washington: U.S. Department of Health and Human
Services.
Vlez, J. C., Fitzpatrick, A. L., Barbosa, C. I., Daz, M.,
Urzua, M., & Andrade, A. H. (2008). Nutritional
status and obesity in children and young adults with
disabilities in Punta Arenas, Patagonia, Chile. International Journal of Rehabilitation Research. Internationale Zeitschrift fur Rehabilitationsforschung. Revue
internationale de recherches de readaptation, 31(4),
305313.
Yamaki, K., Rimmer, J. H., Lowry, B. D., & Vogel, L. C.
(2011). Prevalence of obesity-related chronic health
conditions in overweight adolescents with disabilities. Research in Developmental Disabilities, 32(1),
280288.
Accessible Substance Abuse

Prevention for All Children
18
Jo Ann Ford, Judson Workman, Navid Masoudi,

Mary Huber, Theresa Mayer, and Karel Pancocha
Abstract
Even though moderate declines in the use of alcohol, tobacco, and other
drugs (ATOD) among adolescents have been seen over the years, the battle
to prevent youth from using ATOD is still a focus for educators and researchers. The primary means of preventing ATOD is still through educational settings and school-based programs. However, the effectiveness of
prevention efforts is substantially enhanced when the entire community is
involved. Children with disabilities or children who have nontraditional
learning styles are still not receiving prevention geared specifically toward
their personal needs. This is despite research indicating that the presence
of a physical, mental, or psychological disability places an individual at
increased risk for substance abuse problems. This chapter outlines risk
factors experienced by children with disabilities, community and psychosocial approaches to effective school-based intervention programs, and
concludes with a discussion of the Prevention through Alternative Learning Styles (PALS) program that has shown much success since it was developed in 1992.
Abbreviations
AOD Alcohol and other drugs

ATOD Alcohol, tobacco, and other drugs
NELS National Education Longitudinal Study
J. A. Ford () J. Workman N. Masoudi T. Mayer
Boonshoft School of Medicine, Wright State University,
PO Box 927, Dayton, OH 45410-0927, USA
e-mail: jo.ford@wright.edu
M. Huber
The National Center on Family Homelessness,
200 Reservoir Street, Suite 200, Needham, MA 02494,
USA
e-mail: mary.huber@familyhomelessness.org
K. Pancocha
Masaryk University, Czech Republic, Europe
353
354
NIDA National Institute on Drug Abuse

PALS Prevention through Alternative Learning Styles
VARK Visual, auditory, reading, and kinesthetic (model; Fleming 2001)
18.1Introduction
Even though moderate declines in the use of alcohol, tobacco, and other drugs (ATOD) among
adolescents have been seen over the years, the
battle to prevent youth from using ATOD is still
a focus for educators and researchers (Brounstein etal. 2006; NIDA 2008; Pentz 2003; Tobler
etal. 2000). Years of research have helped identify the underlying characteristics of effective
prevention programs, yet some children still do
not receive adequate prevention messages (Tobler et al. 2000). Some reasons for this include
the presence of a disability, difficulties managing
peer pressure, or the unaddressed need for nontraditional learning methods (Kessler and Klein
1995).
Over the past 20 years, prevention efforts
have succeeded in subsequently reducing the
incidence and prevalence of ATOD use among
youth, as well as increasing their knowledge
about the dangers of ATOD and decreasing their
intentions to use these substances in the future
(Botvin et al. 2003; Fergus and Zimmerman
2005; Gottfredson and Wilson 2003; Pentz 2003;
Tobler etal. 2000; Zollinger etal. 2003). For example, results from the national Monitoring the
Future study revealed declines in the use of illicit drugs and alcohol among 8th, 10th, and 12th
graders after participating in prevention programs. The proportion of students who admitted
any illicit drug use dropped by approximately
one-third, one-quarter, and one-eighth for the
8th, 10th, and 12th grades, respectively. Many
of the successful intervention efforts include
school-based drug prevention programs (Eisen
et al. 2003; Ellickson et al. 2005; Longshore
etal. 2006).
Substance abuse prevention is a systematic
and comprehensive approach toward reducing
J. A. Ford et al.
risks for alcohol or other drug problems. Research has shown that prevention efforts focused
on reducing students risks while increasing their
protective factorsbuilding on their strengths
and teaching them life skillscan help them to
develop into healthy, productive adults (ClintonSherrod etal. 2005; Eisen etal. 2003; Gottfredson
and Wilson 2003; Zollinger et al. 2003). The
current trend in substance abuse prevention is
a multimodal approach consisting of a variety
of strategies. The primary means of preventing
ATOD use is still through educational settings
and school-based programs. However, the effectiveness of prevention efforts is substantially
enhanced when the entire community is involved
(Arthur and Blitz 2000; Smith etal. 1995; Werch
etal. 2003). Family members, school personnel,
political leaders, business, the media, cultural
organizations, and other community groups all
have important roles to play and collaborative efforts increase the effectiveness of prevention programming (LoSciuto et al. 1996; Martino et al.
2006; Slater et al. 2006). By working together,
these groups can establish clear and consistent
messages about ATOD use and create a web of
support for youth (Arthur and Blitz 2000; Ellickson etal. 2005).
The goals of most prevention programs include, but are not limited to, the following:
(1) promoting abstinence by choice, (2) increasing knowledge about ATOD, (3) promoting
healthy lifestyles, (4) decreasing risk factors by
enhancing protective factors, (5) delaying the
onset of ATOD use, and (6) decreasing high risk
use such as binge drinking. Yet, as Tobler etal.
(2000) have pointed out, there will always be a
subset of children who do not benefit from prevention programs for various reasons such as
a programs use of traditional teaching methods that do not accommodate different learning
styles, students inability to handle peer pressure,
or students lack of caring parental/adult support.
Over the last 20 years, the National Institute
on Drug Abuse (NIDA) has conducted numerous
scientific investigations to help uncover the principles that are essential for substance abuse prevention programs. The intent of NIDAs research
is to help communities in their efforts to prevent
18 Accessible Substance Abuse Prevention for All Children
ATOD abuse before its onset, and with more

focused research, communities can more easily
adapt programs that are effective with similar
populations (Table 18.1).
Even with the evidence that prevention efforts
have had some success in reducing substance use,
ATOD use by children and adolescents continues
to be a great concern in our communities (Brounstein etal. 2006; NIDA 2008). Efforts have been
made to provide prevention services to all youth
with an emphasis placed on youth described as
high risk or youth from traditionally underserved
segments of the population. These efforts have
been helpful to many youth; however, children
with disabilities or children who have nontraditional learning styles are still not receiving prevention geared specifically toward their personal
needs. This is despite research indicating that the
presence of a physical, mental, or psychological
disability places an individual at increased risk
for substance abuse problems (Compton et al.
2007; Hasin etal. 2007; Grant etal. 2008; Nation
and Helflinger 2006).
18.2Why Prevention Has Not

Always Worked with Youth
with Disabilities?
Often children with disabilities or children who
have difficulty in school are overlooked for prevention efforts. This may occur because professionals do not feel that they have the expertise to
provide prevention education. More often, children with disabilities are not considered to be at
risk for ATOD use or abuse. In addition, many
materials are not culturally or otherwise accessible to youth with disabilities. Movies, written
materials, and other teaching aids seldom depict
anyone with a disability. If a child cannot relate
to the material being presented, learning and understanding are not as likely to occur. In some
cases, the children with disabilities may be able
to learn facts yet still have difficulty transferring
the information to their own situations.
Most prevention programs available today try
to address a variety of special populations. For
youth with disabilities, however, the risks associ-
355
Table 18.1 Principles of prevention. (Source: National

Institute on Drug Abuse 2008)
Principle
One
Principle
Two
Principle
Three
Principle
Four
Principle
Five
Principle
Six
Principle
Seven
Principle
Eight
Principle
Nine
Principle
Ten
Principle
Eleven
Principle
Twelve
Principle
Thirteen
Principle
Fourteen
Principle
Fifteen
Prevention programs should enhance

protective factors and reduce risk factors
Prevention should address all forms of
drug abuse including prescription drugs,
over the counter drugs, and tobacco
Prevention programs should address
the problems that exist within the local
community
Programs should be tailored to meet the
unique needs and characteristics of the
population to be served
Family-based programs should be
designed to improve bonding between
parents and their children
School-based prevention efforts should
begin as early as possible to address risk
factors such as aggressive behavior, poor
social skills, and academic problems that
are often related to later drug abuse. The
specific topics covered in the prevention
program should be age appropriate and
designed to improve academic, social,
and emotional learning
Elementary school competencies should
focus on academic support, social problem solving, communication, self-control,
and emotional awareness
Middle school and high school prevention programs should include study habits
and academic support, communication
skills, peer relationships, self-efficacy
and assertiveness, drug resistance skills,
and reinforcement of nonuse behavior
Prevention efforts need to include a focus
on individuals undergoing transitional
periods in life
Programs should avoid labeling families
or individuals as high risk
Two or more effective programs can be
combined and used in more than one setting whenever possible
Programs can retain the core elements of
the original research-driven intervention
(structure, content, and delivery) while
modifying materials for the specific
needs of the community
Longer term programs with repeated
interventions over time are preferred
Teacher and other leader training in areas
such as student reinforcement/rewards
and classroom management techniques
should be available
Prevention programming needs to
employ interactive teaching environments which include activities such as
role-playing and peer discussion
356
ated with ATOD use may be different. These differences need to be explored and addressed for
the programming to be successful, for example,
children who take medications need additional information related to risks associated with
ATOD use with the medications. Another example is someone with a disability using ATOD to
mask symptoms that he or she is experiencing. To
have the most impact, the prevention messages
for this individual need to be tailored to the persons specific experience.
Another phenomenon that is still seen in
schools and other settings relates to the fact that
education alone is not effective. When a system
lacks policies and procedures or does not enforce
appropriate consequences, prevention efforts
will not have a long-term impact. Some people
with disabilities find it relatively easy to avoid
at least some of the negative consequences for
ATOD use. For example, someone who uses a
wheelchair for mobility who is arrested may not
experience any of the consequences that someone without a disability may experience such as
incarceration. There are anecdotal stories from
all over describing how people with disabilities
have been excused from the consequences of
ATOD use. Although the intention behind this is
generally positive, policies need to be enforced
consistently for all individuals in order to avoid
the appearance of excusing someones behavior
because of a disability. These societal reactions
to people with disabilities can include a tendency
to overlook the use of alcohol and other drugs
until the use becomes chronic and substantially
more difficult to treat (Moore and Li 1998).
18.3Risk Factors
Research has suggested that adolescents with
disabilities are at higher risk for substance abuse
problems than other populations (McNamara and
Willoughby 2010; Hasin et al. 2007; Compton
et al. 2007; Nation and Helflinger 2006). Children with disabilities face physical, societal, psychological, and cultural barriers that can isolate
them from other youth and can contribute to the
lowering of both personal and educational poten-
J. A. Ford et al.
tial. Just like anyone else, a young person with

a disability faces a number of situations, which
can encourage substance use and abuse. These
dynamics, which increase a persons chance for
substance abuse, are referred to as risk factors,
and some of these risk factors are universal such
as peer pressure, media messages encouraging
substance use, periods of transition, and stress.
A number of children with disabilities experience
poor self-esteem, limited access to peer groups,
chronic medical concerns, a reliance on prescription medications, and a high incidence of depression and related mental health problems, all of
which contribute to their risk for ATOD-related
problems. Other ATOD risk factors include the
following: chaotic home environments; inappropriate classroom behavior; poor school performance; peer pressure; inadequate coping skills;
substance use by friends; and perceived approval
of substance use in family, peer, and/or community environments (Chassin et al. 1981; Fergus
and Zimmerman 2005; Flay 2002; NIDA 2002;
Smith etal. 1995). Some of these risk factors are
discussed below:
18.3.1Medical Concerns
Compared with the general population, some
children with disabilities experience increased
medical and health problems. ATOD use can
aggravate medical problems, which can include
inadvertent drug abuse because of compromised
or unusual drug tolerance; self-medication with
ATOD; and multiple prescribed medications,
which can create problems worse than what they
were originally prescribed to alleviate (Hepner
et al. 1980). Clinicians have documented easy
access to prescribed medications as a significant
risk factor for substance abuse (Manchikanti
2007; McCarthy 2007; Kuehn 2007; Manchikanti 2006; Forman et al. 2006). The problems
associated with excessive or heavy medication
regimens are sometimes very difficult to manage, even for the well-informed medical practitioner. Medications often are prescribed to reduce
muscle spasms, treat frequent infections, regulate
mood, and other physical needs. Unfortunately,
persons with physical disabilities can average

two to five concurrent prescriptions, depending
on age and condition (Boulet etal. 2009; Agostini
etal. 2007; Yen etal. 2009).
18.3.2Chronic Pain
Self-medication for pain can be a significant
risk factor for some individuals with disabilities,
and prescription medication abuse is a form of
substance abuse that is becoming more common
(Leeies etal. 2010; Robinson etal. 2009). Several researchers have addressed the issue of persons with disabilities engaging in self-medication
due to uncomfortable or painful episodes (Wasan
etal. 2009; Proud 2009). Prescribed medications
that are addicting can be dangerous alone, especially when used over a longer period of time.
These drugs can also pose a significant health
and safety threat when used in combination with
alcohol or other drugs.
18.3.3Social Issues
Some children with disabilities struggle with
identifying a peer group and other related social
issues, especially in cases of congenital or earlyonset disabilities. Young people with disabilities
may be isolated from peers, with fewer opportunities to develop relationships. Although much
less common, some special needs students may
still attend segregated schools or some segregated classes. These settings, in some cases, can increase risk for ATOD use by depriving students of
the opportunity to learn constructive peer interaction or be made aware of peer pressure resistance
skills (Todd 2009; Asch etal. 2008). In addition,
anecdotal information from students with disabilities describes situations where peer groups,
which endorse drug use, are actually easier to access than other peer groups. Sometimes this is because ATOD users are more accepting of personality differences or behaviors associated with disability. The increased desire for social acceptance
may reinforce an individual with a disability to
seek settings where drug use is common, thereby
357
making the disability less noticeable. This phenomenon may increase as an individual gets older
and is able to access drinking establishments or
parties where alcohol and other drugs are present.
An example of this is someone with a disability
stating, When I drink alcohol, I am just like everyone else. No one notices my disability.
18.3.4School or Academic Difficulties

Youth with disabilities are at greater risk for
school problems such as dropping out of school
prior to graduation, ATOD use, and involvement
in the legal system. In a study of data from the
National Education Longitudinal Study (NELS)
of 19882000, Hollar and Moore (2004) found
that students with disabilities had higher rates of
ATOD use with cigarette use significantly higher
among students with disabilities when compared
to their nondisabled peers. These data showed
that students with disabilities who acknowledged
ATOD use were more likely to discontinue education after high school, to report sexual activity
beginning at a younger age, and to either be arrested themselves or to have friends with legal involvement. Youth with disabilities also are more
likely to drop out of school than students without
disabilities (Hollar and Moore 2004; US Department of Commerce 1995) with youth with more
severe mental or intellectual disabilities dropping
out of school at higher rates.
18.3.5Enabling
Children with disabilities can learn relatively
quickly that many people make greater allowances in their expectations for someone with a
visible disability. The general public appears to
be less demanding and more willing to assist if
the child has a disability. A young person with a
disability has the choice of how to respond to this
treatment, and unfortunately, substance abuse
and taking advantage of other peoples feelings
and generosity go hand in hand. Aside from the
other negative side effects of preferential treatment, this habit also leads to societal enabling
358
of drug use among persons with disabilities. For

example, when an individual who experiences
speech and gait difficulties is stopped for drinking and driving, the arresting police officer may
allow that individual to go with a warning due to
the disability itself instead of following the established procedures. In a school, a deaf student may
break a rule and not be confronted if the observing faculty does not use American sign language
or the preferred language of the student. These
types of situations can inadvertently reinforce
harmful or dangerous behaviors and may help
mask a substance abuse problem.
18.4Protective Factors
and Resiliency Traits
To become more resistant to risk factors and
other negative influences, prevention programming focuses on developing protective factors
and enhancing the resiliency of each child so that
he or she can thrive even in situations that are difficult. Research shows that youth are less likely
to become involved with ATOD use if they are
made more resistant to risk factors and influences
that promote ATOD use (Ostaszewski and Zimmerman 2006; Small and Memmo 2004). This
approach emphasizes education in basic drug use
dangers, as well as skill building in areas such
as recognizing and resisting peer pressure, recognizing and avoiding drug-using environments,
dealing effectively with stress, and learning how
and where to communicate in a nonthreatening
way about ATOD (Zollinger etal. 2003). Protective factors include strong parentchild bonding,
appropriate parental supervision, clear rules of
conduct that are consistently enforced, involvement of parents, school or educational success,
and peer groups that support nonuse (ClintonSherrod et al. 2005; Fergus and Zimmerman
2005; Flay 2002; NIDA 2002; Smith etal. 1995).
18.4.1Insight into Learning Style

and/or Disability
People with disabilities will have more success in
life if they are knowledgeable about the charac-
J. A. Ford et al.
teristics and implications of their disabilities. Although labels are not important, individuals will
need to recognize any limitations related to their
disabilities as well as adaptations that work for
them personally. In addition, there are opportunities that can be offered by the disability, and individuals should become aware of those opportunities. For example, many people who advocate for
disability rights or who work with people with
disabilities in rehabilitation or other settings are
themselves people with disabilities.
18.4.2Resourcefulness
and Independence
Children who are able to solve problems and
identify options and resources for situations will
be much more successful as adults than those individuals who have difficulty planning and brainstorming. A trait showing resourcefulness is the
ability to attract positive and appropriate adult attention and support. Another issue here relates to
understanding when to accept assistance versus
when to maintain independence. It can be very
easy for some people with disabilities to become
trapped in situations where they are overprotected and unable to act independently. Someone
with a disability needs to have opportunities to
become independent, which includes understanding the benefits to failing in tasks. Most successful adults will credit part of their success to learning from their mistakes and having the courage to
try again in a different way.
18.4.3Social Competence
Most people benefit greatly from having a peer
group. Even having one close friend who shares
similar beliefs and interests can have a very positive impact on resiliency. Social competence can
manifest by joining age-appropriate groups such
as school clubs, church groups, choirs, scouts,
sports teams, etc. A child with a disability who
can make others feel comfortable around him or
her is also showing aspects of social competence.
Having a sense of humor also can be a protective
factor when used appropriately.
18.4.4Academic or School Success

Success can be defined differently for each individual. For some students, a high grade point
average is an appropriate measure of success.
However, not all children with disabilities will
be able to achieve this type of success. Some
examples of success include goal-directed behavior; ability to picture a positive future; achieving
life skills such as job or independent living skills;
bonding or attachment to the school; involvement in school activities; participation in gifted
programming; and building appropriate relationships with adults and with peers. Understanding
learning styles and discovering accommodations
that are helpful is another measure of success and
is a skill that will assist the child in the future as
an adult.
18.5Applying Prevention in Other

Settings
While ATOD prevention efforts are often implemented in academic settings, these are not the
only environments in which prevention can be, or
should be, focused. Prevention messages can be
shared with youth and adults in almost any setting and by almost anyone. Prevention should not
be limited to professionals in the fields of ATOD
prevention or rehabilitation; information about
the harm/consequences associated with excessive ATOD use/abuse can be disseminated in settings as diverse as a summer school camp, daycare or after school program, as well as in ones
church or home. Although formal prevention
programming should be conducted by a trained
professional, a person does not have to be an expert or even well versed in the field of prevention
or education in order to share appropriate ATOD
prevention messages with youth. However, any
information provided must be accurate and must
be presented in a way that is appropriate for the
audience.
One particularly helpful technique that can be
used by most people to disseminate prevention
messages is the teachable moments method.
Generally, a teachable moment is unplanned
359
where an opportunity presents itself providing

a teacher or another adult with an ideal chance
to offer insight into a situation. The opportunity
must be perceived and taken advantage of by the
adult. In a classroom setting, this situation typically will require a brief shift in attention as the
lesson plan is put on hold to address a comment
or question posed by a student. This tangent is
generally very helpful because it is based on the
students own experience or situation, and typically captures and maintains the attention of the
class. One example is when a student makes a
comment about an alcohol-related automobile
accident that occurs in the local area. The teacher
can take this student comment and use it as the
starting point for a discussion about the dangers
of drinking and driving; the teacher may decide
to ask the student questions about what they
know, or could simply share information about
the physical and mental changes that occur when
alcohol is introduced to the brain and body. In
addition, the teacher may take advantage of this
situation and share information about the alcohol
laws relating to minors and the legal consequences of alcohol use.
While the teachable moment method is typically defined as occurring in an academic setting, one should not limit this approach only to
a classroom environment. Everyday, and often
numerous times a day, adults are presented with
opportunities to share information with others
about the harmful consequences associated with
ATOD use or other behaviors. These chances for
education may occur in a work setting, in public settings, in private settings such as a medical
setting, or in the home. News stories or events
that happen locally can provide opportunities for
teachable moments. There are frequently news
stories related to alcohol-related deaths around
school dances, graduations, and sporting events.
Texting and driving is another example of dangerous behavior that has been in the media regularly. Discussing these local stories has a larger
impact since the children will be able to more
closely relate to the situation. Other prevention
topics that may come up include marijuana use
and discussions related to medical marijuana,
unplanned pregnancies and sexually transmitted
360
diseases, health issues, and self-advocacy. Family members may want to choose books or movies with messages that they want to discuss with
their child. Health care professionals also have
opportunities to provide prevention education
through small teachable moments during office
visits or routine medical appointments.
In addition, one very important component of
ATOD prevention for children with disabilities
and for children who struggle socially and/or academically is the presence of at least one caring
adult. Mentoring between a concerned adult and
a child sets up a relationship that has proven to be
effective in preventing ATOD use and other problem behaviors. Research has shown that a caring
adult can help inoculate youth against drugs and
alcohol, and this caring adult can be, but does not
have to be, the parent (Kessler and Klein 1995;
Small and Memmo 2004). In some situations,
children with disabilities will identify with and
feel closer to a teacher, a teachers aide, a mentor, or a social support leader as this adult often
appears to be one of the only individuals in their
lives who understands their situation.
18.6Adapting Prevention Messages

At a general level, adaptations are any change
in the environment, instruction, or materials for
learning that improves a students performance
and allows at least partial participation in a learning environment (Darrow 2007). Adaptations are
person-specific and are based on the individuals
unique learning needs and should take into account both strengths and weaknesses (Darrow
2007). Some researchers have argued that all
students have differing learning styles and that
curriculum and techniques need to be adapted
for all youth (Bohrer 1995; Hardin and McNelis
1996; Moran etal. 2006). This thinking is similar to the philosophy of No Child Left Behind
where the idea is to improve the basic skills of
the nations public school children and to make
disadvantaged and nontraditional students more
visible so that teachers can help them (Comer
2004). Moran etal. (2006) emphasized that each
learner has an intelligence profile that consists
J. A. Ford et al.
of a combination of strengths and weaknesses.

There are many models of learning that address
learning styles, including looking intelligence as
multifaceted. One model looks at a learners relative strengths across nine different intelligences:
linguistic, logical-mathematical, musical, spatial,
bodily kinesthetic, naturalistic, interpersonal, intrapersonal, and existential (Gardner 2006). An
important message in this model is a focus not
on whether or not a child is intelligent but rather
how that child is intelligent. Developing a basic
understanding of strengths in these areas of intelligence is empowering for most children and
allows them to explore accommodations and to
advocate for themselves when needed.
Darrow (2007) distinguishes between two
specific types of adaptations: accommodations
and modifications. Accommodations allow an
individual to complete the same activity or assignment as their peers, but they are given a different format, setting, time frame, or response
alternative. With accommodations, an instructor
seeks to remediate the students problems so that
he or she can accomplish the same task as the
other students. Modifications, on the other hand,
are used when the student cannot participate in
the same way as the other students due to the
nature of the disability or learning needs. In this
case, students are encouraged to participate and
perform at the highest level possible given their
unique abilities. Modifications, by their nature,
often alter the standard of participation and the
outcomes measured. Modifications are part of
a compensatory approach where an instructor
needs to be aware of and develop the students
abilities and assets.
Another view of adapting instruction includes
nine types of adaptations from Ebeling et al.
(1994). These adaptations include the following: (1) modifying the time allowed for a task,
(2) increasing or decreasing the number of items
to be learned or completed, (3) increasing the
level of support given to an individual, (4) changing the input or the way the material is presented,
(5) changing the output or how the learner can
respond, (6) adapting the amount of active participation, (7) changing to alternate goals and
expectations, (8) adapt the level of difficulty in

Table 18.2 Ways to adapt information
When adapting the way information is presented and
how instruction is given, consider the following:
Adapt the number of items that the
Size
learner is expected to learn or complete
Adapt the time allowed for learning or
Time
task completion
Increase the amount of personal assisLevel of
tance with a specific learner
support
Adapt the way instruction is delivered
Input
to the learner
Adapt how the learner can respond to
Output
instruction
Participation Adapt the extent to which the learner is
actively involved in the task
Adapt outcome/goal expectations while
Alternate
using the same materials
goals
Adapt the skill level, problem type, or
Difficulty
rules on how to approach the work
Provide different instruction and
Substitute
materials
curriculum
the lesson for each individual, and (9) if need

be, provide different instruction and material
(Table 18.2).
Similarly, in the area of reading, Kozen etal.
(2006) have conducted research on improving
student content and reading comprehension, encouraging the use of adaptations to ensure that all
students are benefiting from the exercise. In the
area of input, some students may need additional
visual (video, computer technology) and auditory
supports (audio text). Other students may benefit
from the identification of the major ideas, statements, and/or concepts to be learned in the activity; this can be done through simply highlighting
sections of text or by having students work in
groups with advanced readers. In an adaptation
of size, students may need to divide the passage
into smaller more manageable sections of reading to avoid the potential for overwhelming the
student with large passages. For level of support,
learners may benefit by being paired with a more
proficient reader (peer or mentor) or by creating a
cooperative group including a mix students from
different reading levels. Sometimes goals need to
be modified either by the number of goals or by
the difficulty level. It is appropriate for children
to have different goals and levels of achievement. When students need adaptations in the
361
time allowed for a lesson they may be allowed

to read materials at home or they may be given
the equivalent of a take home test, which permits
the student to prepare before class. Another adaptation in reading and time would be providing a
summary of the central concepts to students prior
to their reading.
Educational materials need to capture the interest of children with disabilities, be at an appropriate reading level, utilize language, which
is sensitive and culturally specific, and have
examples with realistic social contexts. A person
with a learning disability, developmental disability, or deafness may read at a low level, but that
does not necessarily equate to the persons level
of functioning. Graphics, audiovisual materials,
and role play activities can be sensitive to youth
with disabilities by including situations, places,
and things with which they are able to identify. In
addition, the prevention messages should utilize
a variety of learning modalities to reinforce key
points.
The challenge for the educator or prevention specialist is to utilize materials, which are
both engrossing and carefully paced to account
for various learning styles. As mentioned above,
a session can be videotaped and played back in
conjunction with a review of homework assignments. If the attendees exhibit impulse control
issues, sitting for long periods of time or staying
focused on a single source of information may be
difficult. Shorter sessions that are very structured
will be more successful.
Prevention education for adolescents with
disabilities should include sections on teaching youth with disabilities about the following:
(1) peer pressure; (2) appropriate resistance skills;
(3) the substance abuse risks specific to their disabilities, including the use of medications; (4) the
law as it relates to the possession and use of illicit
drugs; and (5) legal, social, developmental, family, and health consequences. Training models
must be responsive to the areas of greatest risk
for the adolescents with disabilities being served.
For example, the onset of drug use by students in
learning disability classes comes from considerably different factors than does the onset by students in classes for children with mental retarda-
362
Table 18.3 Examples of adaptations
Use the computer when writing by hand is difficult
Use voice recognition or voice input software when
typing is difficult
Use books on tape or use another student as a reader
when reading is difficult
Allow activities that encourage movement
Allow students to show their knowledge through arts or
other creative activities
Use technology as often as possible
Vary teaching styles frequently
Switch between lecturing, reading, moving, etc., in
each lesson
Give instructions both orally and in writing
Break tasks into manageable parts
Use large print materials
Minimize distractions by being aware of lighting,
sounds, colors, patterns, etc.
Maintain eye contact and face students when speaking
Use interpreters when needed
Repeat material often but use different modalities to
avoid boredom
Make rules that are clear and consistent
Keep expectations realistic without lowering the
expectations
Understand that accepting a disability is a lifelong
process
Utilize opportunities for teachable moments
Understand the difference between enabling and caring
Listen
tion. Consequently, information must be relevant

and individualized by disability if it is to be effective in preventing substance abuse (Table 18.3).
18.7Prevention Through Alternative

Learning Styles: One Successful
Prevention Program for Youth
with Disabilities
The Prevention through Alternative Learning
Styles (PALS) program has shown much success
since it was developed in 1992. PALS first began
as a training program for educators, in particular
special education teachers. The initial 2-year project trained over 1,200 educators from the states
of Ohio and Michigan and was awarded the 1994
Ohio Exemplary Prevention Award for its contribution to prevention education in Ohio. Trainees
were provided with a day-long education ses-
J. A. Ford et al.
sion with the following training objectives: (1) to

identify risks associated with substance abuse for
youth with disabilities, (2) to identify the goals
of prevention programs, (3) to gain confidence
in the ability to provide prevention to youth with
disabilities, (4) to identify techniques for adapting existing prevention education materials used
with youth with disabilities, and (5) to identify
ways to incorporate prevention into the current
curriculum on a regular basis. Trainees were
provided with training materials that included a
manual containing specific prevention activities
that were usable in the classroom.
Anecdotal reports from trainees and from professionals working with youth in the community
indicated that there was a lack of collaboration
between the professionals working in the alcohol
and other drugs (AOD) prevention and treatment
field and the teachers and other educators working with students in special education. Youth in
special education frequently were not offered
prevention services and when they were involved
in prevention activities the messages were not
always presented in effective ways. At the same
time, students with disabilities were being referred to traditional AOD programs that were
unequipped to meet the individual needs of these
youth, in part, because the disability was often
not identified.
On the basis of this information, in 1995, the
PALS approach was expanded to include community-based prevention efforts with a focus on
the special risks for substance abuse associated
with disability. This combined approach allowed
the opportunity for educators and community
agency personnel to network while being trained
to adapt prevention activities to better meet the
needs of youth with various learning styles. From
1997 to 1999, PALS trained an additional 1,300
educators and social service providers and in
1999, PALS again received an Ohio Exemplary
Prevention Award.
The PALS program continued to evolve
throughout the next several years expanding
from a strictly professional developmental training project into a multifaceted research and training program that includes measures of student
outcomes. The PALS program has been designed
at all stages to incorporate the components of effective evidence-based prevention programs and
is based on a number of principles. First, PALS
views prevention education as an ongoing dialogue between adults and youth in all settings
and situations; dissemination of ATOD prevention messages can, and should, occur in a variety of environments both inside and outside of
the classroom. For the past 15 years, prevention
educators have known that adult role models can
have more influence on whether or not a youth
will initiate drug use than any of the other environmental factors (Kessler and Klein 1995). This
adult need not be the parent, and in fact, special
education students may rely on teacher and other
adult guidance more often than other students do.
The second principle is derived from resiliency models of prevention in the child development and public health fields (Wolin and Wolin
1993). PALS promotes building resiliency skills
in students from all backgrounds with differing
learning styles. Youth are less likely to become
involved with ATOD use if they are made more
resistant to risk factors and influences that promote use. This theoretical approach is the most
widely adopted in the country today. In order for
youth to avoid problematic behavior, according to
this theory, they must develop attitudes and skills
that promote abstinence and good choices. This
approach emphasizes education in the harmful
effects of ATOD, as well as skill building in such
areas as recognizing and resisting peer pressure,
recognizing and avoiding drug-using environments, and dealing effectively with stress. This
model also encourages prevention throughout the
learning years as opposed to a curriculum offered
only once or twice during the school-age years.
The third principle utilizes the special education model of adapting materials to meet the individual needs of students. The best way to make
prevention accessible for youth with disabilities
is to modify existing evidence-based curricula in
content and also in style of presentation to match
students specific needs, sociocultural perspectives, and related abilities. An excellent model for
modifying curriculum material was developed at
the Center for School and Community Integration Institute for the Study of Developmental
363
Disabilities at Indiana University (Ebeling et. al.

1994). The PALS program includes implementer
training and support as well as a curriculum for
students.
18.7.1Implementer Training
Adults interested in learning the PALS program
participate in a day-long training session, which
provides an overview of the terminology and philosophies incorporated in the ATOD prevention
field. The goals of the PALS program directly
parallel those in the prevention field and provide
participants with professional skills that can help
decrease student risk factors and increase both
protective factors and student resiliency. Underlying the PALS philosophy is the belief that all
students need prevention, especially those with
disabilities and/or alternative learning styles.
These students can be missed in traditional prevention efforts because they frequently have
problems being successful in traditional programming efforts. Some students may have difficulty maintaining attention, understanding the
prevention messages, or applying the information
to their own situations. These youth often have a
strong desire to fit in, which can set them up to
be more easily influenced or victimized by their
peers. The PALS approach reminds participants
of the often subtle nature of peer pressure and
shows them how to instruct students in the use of
refusal skills and how to make healthy lifestyle
choices.
Trainees are presented with information that
summarizes the prevalence of ATOD use in the
United States among students with and without
disabilities. Statistical findings from the NELS
and the Monitoring the Future research program
are presented with the goal of providing teachers
with accurate normative data describing the percentage of students using ATOD, along with an
overview of usage trend changes over the years.
These studies have shown that youth and adults
with disabilities use ATOD at the same or higher
rates than the general population. Consistent associations have also been found between individuals who use cigarettes, alcohol, and illicit drugs.
364
J. A. Ford et al.
Table 18.4 Adapting PALS to a different cultural setting

Alcohol, tobacco and other drugs (ATOD) cause harm to children in many countries, and prevention activities are
being incorporated into school curricula throughout the world. Activities developed in one country are sometimes
used by teachers in different countries. However, the simple transfer of prevention programs and activities from
one culture to another may threaten program efficacy if adaptations are not made. Backer (2001) proposed formal
program adaptation guidelines, which emphasize balancing program fidelity and adaptation as a best strategy for
improving prevention program outcomes in different ethnic or cultural settings. Castro etal. (2004) introduced three
essential adaptation dimensions: (a) cognitive information processing characteristics such as language and age/
developmental level; (b) affective-motivational characteristics as related to gender, ethnic background, religious
background, and socioeconomic status; and (c) environmental characteristics that include ecological aspects of the
local community
Dr. Karel Pancocha had the opportunity to use several of the PALS prevention activities at the Kocianka Elementary
School in the Czech Republic. These activities required adaptations for use in the Czech environment. Dr. Pancocha
worked with children between the ages of eight and twelve who had multiple disabilities, including children with
autism spectrum disorders, developmental disabilities, and visual impairments. Since this was the first time that
many of the students were exposed to ATOD information, the activities focused on providing a basic understanding
of self-concept, disability, and peer pressure as well as an introductory knowledge of drugs that can be abused and
the effects of drug abuse
Since the students writing and reading skills were very limited, activities that featured visuals, drawing, story-telling, and role playing were selected. The adaptations to the PALS activities focused primarily on the cognitive information processing dimension. Translation from one language to another, from English to Czech, was the obvious
first necessary step. As the language and directions of the PALS program tended to be straightforward and practice
oriented, this part did not cause much difficulty. The teachers predominantly focused on the vocabulary and tried to
match it with the students abilities, while keeping the message and meaning. Some PALS activities included names
of imaginary characters, which were changed to reflect names more familiar to students in the Czech Republic
Much more adaptation needed to be done on the visual content of the program. It was necessary for the students to
recognize and be familiar with all of the depicted content. This was especially important for the students, as they
could not rely on written instructions. Generally, the PALS program includes people of different genders, races,
ethnicities, learning abilities, and disabilities within its visual content. To hold to this idea, visuals were used that
reflected the situation in the Czech Republic. The most important adaptation was including people from minority
and ethnic groups present in the Czech Republic (i.e., the Romani, Vietnamese) and excluding those that are not
relevant to their current demographics
The visual materials needed further adaptation in making the featured environment more relevant to the Czech setting. As the students tended to spot even small cultural mismatches, it was critical to make sure that all the portrayed
objects corresponded to the life they were familiar with. This included changing the clothes that characters were
wearing, shapes of houses, types of toys, home appliances, grocery store supplies, etc.
Individuals who use one of these substances are

more likely to engage in use of one of the other
substances.
In addition to a review of some of the common learning and intelligence theories including
Flemings (2001) visual, auditory, reading, and
kinesthetic model, Gardners (2006) theory of
multiple intelligences, and right brain/left brain
theory (McCarthy 1987), trainees are led through
a number of activities to reinforce ways to adapt
materials for different audiences and different
learning styles. An essential component of this
training reviews different techniques for presenting ATOD prevention messages in addition to
ways to adapt theses messages for specific disability groups or learning needs. Participants are
then shown how to take an active role in adapting
their teaching style in order to meet the needs of
all learners. They are instructed not to lower their

expectations; instead they should either change
the way the class materials are presented or modify the mechanism with which student knowledge
is demonstrated. Trainees are encouraged to build
on the students strengths to help compensate for
their weaker areas. They are also encouraged to
make use of technology when feasible, including
visual magnification equipment, hearing amplification products, software programs, and computers for basic educational activities (Table 18.4).
18.7.2Student Components
The PALS program provides education in the
harmfulness of ATOD use, as well as skill building in areas such as recognizing and resisting
peer pressure, recognizing and avoiding drug-using environments, dealing effectively with stress,
and learning how and where to communicate in
a nonthreatening way about drug use questions
(Zollinger etal. 2003). It also helps students understand their abilities, disabilities, and learning
styles. Each activity has been aligned with the
Ohio Department of Educations standards for
education. This guides the lesson planning process and ensures that each activity is within the
scope of learning goals and objectives that meet
the states educational standards.
Students are exposed to material that is appropriate for their grade level. The students participate in five units, with a minimum of two
lessons per unit, for a total of ten lessons. Each
unit includes many additional lessons and activities so the program can be tailored to fit the
students particular needs. In addition, the PALS
curriculum was designed to enhance, rather than
supplant, any prevention education that occurs at
school or in any other setting. Activities or lessons can be stand alone as well as being used as a
complete curriculum.
The first unit is Understanding Differences
and Learning Styles. This unit describes several
different approaches to learning and theories of
intelligence, and helps students determine their
preferred learning modalities; students are encouraged to advocate for themselves and allowed
to practice in peer-role play sessions. The second
lesson in this unit promotes awareness of individuals with disabilities (physical, emotional,
cognitive, and learning). Students participate
in a number of hands-on disability simulations,
which helps them understand how to find alternative ways to solve a task. Great care is taken
to ensure that students leave this activity with an
understanding that people with disabilities can
do almost anything that others can; they just may
need to adapt and do it differently.
The second unit, Effects of Alcohol, includes a
number of unique demonstrations; the first is designed to show the physical damage that alcohol
consumption can cause to the cells in the body,
and the second demonstration illustrates serving
sizes. Following each demonstration and discussion, students can complete a science report or
365
writing response activity. Other student activities

in this unit include (but are not limited to): reading a storybook and/or PowerPoint presentation
of the storybook; designing and creating an alcohol education poster; a creative writing project;
cross-word puzzles, word searches, and hidden
picture activities.
The third unit is Effects of Tobacco and is designed to show students the many harmful consequences that result from smoking cigarettes
or using a tobacco product. This unit includes
several hands-on activities and a lab experiment. Students are shown visual illustrations of
the amount of tar that accumulates in the body
after a year of smoking a pack of cigarettes a day;
students are also allowed to touch simulated tar
and experience its sticky and tacky properties
first hand. The lab experiment has the class create a lung machine that can actually show the
effects of tar and the other chemicals on sensitive lung tissue. Students are asked to describe
what they learned in the demonstrations and lab
experiments through discussion or by completing a science report, drawing activity, or writing
response activity. Additional student activities in
this unit include reading and discussing a storybook; completing a research activity based on a
criminal investigation theme, mathematics worksheets focusing on costs associated with tobacco
use, and word search and puzzle activities.
The fourth unit, Effects of Other Drugs, focuses on the effects that cocaine and marijuana can
have on both the brain and the body. This section
also provides a review of prescription and overthe-counter medications to include information
on latest trends and potential ways these drugs
can be misused and/or abused. The focus is on
the negative consequences of the use of illicit
drugs and the misuse of prescribed medications.
Several in-class demonstrations are conducted
to show how cravings can occur. Another demonstration activity shows how even a simple
memorization task or simple set of directions can
become complicated when something is fighting
for attention from someones brain. There are
also perception experiments allowing students
to experience sensory distortions similar to those
which can result from misuse of medications or
366
use of illegal drugs and a normative activity and

graphing project, which attempts to demonstrate
that most young people do not use alcohol and
other drugs. Not surprisingly, this is one area that
is very difficult to teach children who frequently
still believe that most teenagers smoke and use
other drugs.
The last unit is called Peer Pressure and
Healthy Choices. This unit reviews the types of
peer pressure and provides relevant examples.
Students are taught a number of ways to address
negative peer pressure and they can participate
in a role-playing exercise to develop their refusal skills in the real world. There is also a focus
on healthy peer pressure and how to utilize the
strength of a group to overcome obstacles that
seem insurmountable. Other activities address
how advertising and the media can be used to
promote and sell ATOD products as well as attitudes and beliefs. One of the key characters
in the PALS materials is a dog named Tommy,
and there are several pieces of literature that use
Tommy to promote healthy lifestyle choices.
18.8Conclusion
The purpose of this chapter was to provide a
newer way of thinking about ATOD prevention.
Prevention is not a one shot deal only provided
in a school setting by professionals in the chemical dependency field. Rather, all adults can and
should be involved in providing ATOD prevention information to todays youth. It is a community responsibility to provide guidance and
direction to children and encourage them to make
healthy choices such that they can have success
in all areas of their lives. Although it is important
to provide accurate information when providing prevention messages, not every prevention
message has to be detailed and scientific. Basic
information about ATOD, peer pressure, healthy
lifestyles, and resistance are just as important as
the more detailed information addressed in educational settings and treatment settings. Since all
youth have different experiences, backgrounds,
and abilities, adults need to meet them at their
level and provide prevention information in
J. A. Ford et al.
a way that is meaningful and relevant to each

unique individual. Adults need to seize all possible opportunities available and send frequent
and consistent prevention messages to youth.
The PALS philosophy and approach to disseminating ATOD prevention education does
work! Statistical results from trainings conducted
over the years indicate that the PALS approach
can successfully change both participant attitudes toward providing ATOD education and
their actual work behavior. Training participants
reported significant improvements in their ATOD
knowledge and ability to modify/adapt prevention messages for youth from differing backgrounds and ability levels. They also reported
more confidence in their ability to provide ATOD
education and to adapt ATOD activities. The
majority of participants in PALS find that they
can utilize teachable moments as well as make
basic modifications to prevention messages and
they feel empowered to spend more time incorporating prevention into their normal schedules.
When children receive consistent and repeated
prevention messages, they begin to incorporate
that information, making abstinence and healthy
choices a normal part of their lives.
References
Agostini, J. V., Tinetti, M. E., Ling, H., Peduzzi, P., Foody,
J. M., & Concato, J. (2007). Association between antihypertensive medication use and non-cardiovascular
outcomes in older Men. Journal of General Internal
Medicine: Official Journal of the Society for Research
and Education in Primary Care Internal Medicine,
22(12), 16611667.
Arthur, M. W., & Blitz, C. (2000). Bridging the gap
between science and practice in drug abuse prevention through needs assessment and strategic community planning. Journal of Community Psychology, 28,
241255.
Asch, A., Blustein, J., & Wasserman, D. T. (2008). Criticizing and reforming segregated facilities for persons
with disabilities. Bioethical Inquiry, 5, 157167.
Backer, T. E. (2001). Finding the balance: Program fidelity and adaptation in substance abuse prevention: A
state-of-the-art review. Rockville: Center for Substance Abuse Prevention.
Bohrer, K. (1995). Diverse learning styles: A classrooms
greatest asset. Middle School Journal, 27, 5053.

Botvin, G. J., Griffin, K. W., Paul, E., & Macaulay, A.
P. (2003). Preventing tobacco and alcohol use among
elementary school students through life skills training.
Journal of Child and Adolescent Substance Abuse,
12(4), 117.
Boulet, S. L., Boyle, C. A., & Schieve, L. A. (2009).
Health care use and health and functional impact
of developmental disabilities among U.S. children,
19972005. Archives of Pediatrics & Adolescent
Medicine, 163(1), 1926.
Brounstein, P. J., Gardner, S. E., & Backer, T. E. (2006).
Research to practice: Efforts to bring effective prevention to every community. Journal of Prim Prevent,
27(1), 91109.
Castro, F. G., Barrera, M., Jr., & Martinez, C. R., Jr.
(2004). The cultural adaptation of prevention interventions: Resolving tensions between fidelity and fit.
Prevention Science: The Official Journal of the Society for Prevention Research, 5, 4145.
Chassin, L., Presson, C. C., Sherman, S. J., Corty, E., &
Olshavsky, R. W. (1981). Self-images and cigarette
smoking in adolescence. Personality and Social Psychology Bulletin, 7, 670676.
Clinton-Sherrod, M., Sobeck, J., Abbey, A., Agius, E.,
& Terry, K. (2005). The role of psychosocial factors
in the transition to substance use: Are they protective
among urban minority adolescents? The Journal of
Primary Prevention, 26(6), 511528.
Comer, J. P. (2004). Leaving no child behind. New Haven:
Yale University Press.
Compton, W. M., Thomas, Y. F., Stinson, F. S., & Grant,
B. F. (2007). Prevalence, Correlates, Disability and
Comorbidity of DSM-IV drug abuse and dependence
in the United States: Results from the National Epidemiologic Survey on alcohol and related conditions.
Archives of General Psychiatry, 64, 566576.
Darrow, A. (2007). Adaptations in the classroom: Accommodations and modifications: Part I. General Music
Today, 20, 3234.
Ebeling, D. G., Deschene, C., & Sprague, J. (1994).
Adapting curriculum and instruction in inclusive
classrooms. Bloomington: The Center for School
and Community Integration Institute for the Study of
Developmental Disabilities.
Eisen, M., Zellman, G. L., & Murray, D. M. (2003). Evaluating the Lions-Quest Skills for Adolescence drug
education program: Second-year behavior outcomes.
Addictive Behaviors, 28(3), 883898.
Ellickson, P. L., Collins, R. L., Hambarsoomians, K., &
McCaffrey, D. F. (2005) Does alcohol advertising promote adolescent drinking? Results from a longitudinal
assessment. Addiction, 100, 235246.
Fergus, S., & Zimmerman, M. A. (2005). Adolescent
resilience: A framework for understanding healthy
development in the face of risk. Annual Review of
Publication Health, 26, 399419.
Flay, B. R. (2002). Positive youth development requires
comprehensive health promotion programs. American
Journal of Health Behavior, 26(6), 407424.
367
Fleming, N. D. (2001). Teaching and learning styles:

VARK strategies. Christchurch: N.D. Fleming.
Forman, R. F., Woody, G. E., McLellan, T., & Lynch, K.
G. (2006). The availability of web sites offering to sell
opioid medications without prescriptions. The American Journal of Psychiatry, 163(7), 12331238.
Gardner, H. (2006). Multiple intelligences: New horizons.
New York: Basic Books.
Gottfredson, D. C., & Wilson, D. B. (2003). Characteristics of effective school-based substance abuse prevention. Prevention Science: The Official Journal of the
Society for Prevention Research, 4, 2738.
Grant, B. F., Chou, S. P., Goldstein, R. B., Huang, B.,
Stinson, F. S., Saha, T. D., Smith, S. M., Dawson, D.
A., Pulay, A. J., Pickering, R. P., & Ruan, W. J. (2008).
Prevalence, Correlates, Disability and Comorbidity of
DSM-IV borderline personality disorder: Results from
the wave 2 national epidemiologic survey on alcohol
and related conditions. The Journal of Clinical Psychiatry, 69(4), 533545.
Hardin, D. E., & McNelis, S. J. (1996). The resource center: Hub of inclusive activities. Education Leadership,
53(5), 4143.
Hasin, D. S., Stinson, F. S., Ogburn, E., & Grant, B. F.
(2007). Prevalence, Correlates, Disability and Comorbidity of DSM-IV alcohol abuse and dependence in
the United States: Results from the national epidemiologic survey on alcohol and related conditions.
Archives of General Psychiatry, 64(7), 830842.
Hepner, R., Kirshbaum, H., & Landes, D. (1980). Counseling substance abusers with additional disabilities:
The center for independent living. Alcohol Health
Research World, 5(2), 1115.
use by students with disabilities to long-term educational, employment, and social outcomes. Substance
Use & Misuse, 39(6), 931962.
Kessler, D. T., & Klein, M. A. (1995). Drug use patterns
and risk factors of adolescents with physical disabilities. International Journal of the Addictions, 30(10),
12431270.
Kuehn, B. M. (2007). Prescription drug abuse rises globally. Journal of the American Medical Association,
297(12), 1306.
Kozen, A. A., Murray, R. K., & Windell, I. (2006).
Increasing all students chance to achieve: Using and
adapting anticipation guides with middle school learners. Intervention in School and Clinic, 41, 195200.
Leeies, M., Pagura, J., Sareen, J., & Bolton, J. M. (2010).
The use of alcohol and drugs to self-medicate symptoms of posttraumatic stress disorder. Depression and
Anxiety, 27(8), 731736.
Longshore, D., Ghosh-Dastidar, B., & Ellickson, P. L.
(2006). National youth anti-drug media campaign and
school-based drug prevention: Evidence for a synergistic effect in ALERT Plus. Addictive Behaviors,
31(3), 496508.
Losciuto, L., Rajala, A. K., Townsend, T. N., & Taylor, A.
S. (1996). An outcome evaluation of across ages: An
368
intergenerational mentoring approach to drug prevention. Journal of Adolescent Research, 11(1), 116129.
Manchikanti, L. (2006). Prescription drug abuse: What is
being done to address this new drug epidemic? Testimony before the subcommittee on Criminal Justice,
Drug Policy and Human Resources. Pain Physician,
9, 287321.
Manchikanti, L. (2007). National drug control policy and
prescription drug abuse: Facts and fallacies. Pain Physician, 10, 399424.
Martino, S. C., Collins, R. L., Ellickson, P. L., Schell,
T. L., & McCaffrey, D. (2006). Socio-environmental
influences on adolescents alcohol outcome expectancies: A prospective analysis. Addiction, 101(7),
971983.
McCarthy, B. (1987). The 4MAT system: Teaching to
learning styles with Right/left mode techniques. Barrington: EXCEL.
McCarthy, M. (2007). Prescription drug abuse up sharply
in the USA. Lancet, 369, 9572.
McNamara, J. K., & Willoughby, T. (2010), A longitudinal study of risk-taking behavior in adolescents with
learning disabilities. Learn disability Research and
Practice, 25, 1124.
Moore, D., & Li, L. (1998). Prevalence and risk factors of
illicit drug use by people with disabilities. The American Journal on Addictions/American Academy of Psychiatrists in Alcoholism and Addictions, 7(2), 93102.
Moran, S., Kornhaber, M., & Gardner, H. (2006). Orchestrating multiple intelligences. Education Leadership,
64(1), 2227.
Nation, M., & Helflinger, C. A. (2006). Risk factors for
serious alcohol and drug use: The role of psychosocial
variables in predicting the frequency of substance use
among adolescents. The American Journal of Drug
and Alcohol Abuse, 32(3), 415433.
National Institute of Drug Abuse. (NIDA) (2002). Risk
and protective factors in drug abuse prevention. NIDA
Notes, 16(6), 12.
National Institute of Drug Abuse. (NIDA) (2008). Fewer
young adults abuse cocaine and methamphetamine
national survey finds. NIDA Notes, 22 (2), 56.
Ostaszewski, K., & Zimmerman, M. (2006). The effects
of cumulative risks and promotive factors on urban
adolescent alcohol and other drug use: A longitudinal
study of resiliency. American Journal of Community
Psychology, 38(3), 237249.
Pentz, M. A. (2003). Evidence-based prevention: Characteristics, impacts, and future directions. Journal of
Psychoactive Drugs, SARC Supplement, 1, 143152.
Proud, C. (2009). Opioid therapy for chronic pain: Risk
management strategies, Journal of Nurse Practitioners, January, 4752.
Robinson, J., Sareen, J., Cox, B. J., & Bolton, J. (2009).
Self-medication of anxiety disorders with alcohol and
J. A. Ford et al.
drugs: Results from a nationally representative sample. Journal of Anxiety Disorders, 23(1), 3845.
Slater, M. D., Kelly, K. J., Edwards, R. W., Thurman, P.
J., Plested, B. A., Keefe, T. J., & Henry, K. L. (2006).
Combining in-school and community-based media
efforts: reducing marijuana and alcohol uptake among
younger adolescents. Health Education Research,
21(1), 157167.
Small, S., & Memmo, M. (2004). Contemporary models of youth development and problem prevention:
Toward an integration of terms, concepts, and models.
Family Related, 53(1), 311.
Smith, G. T., Goldman, M. S., Greenbaum, P. E., &
Christiansen, B. A. (1995). Expectancy for social
facilitation from drinking: The divergent paths of
high-expectancy and low-expectancy adolescents.
Journal of Abnormal Psychology, 104(1), 3240.
Tobler, N. S., Roona, M. R., Ochshorn, P., Marshall, D.
G., Streke, A. V., & Stackpole, K. M. (2000). Schoolbased adolescent drug prevention programs: 1990
meta-analysis. The Journal of Primary Prevention, 20,
275336.
Todd, S. (2009). Learning to take the world seriously: An
ethnographic study of the management of knowledge
in a special school for intellectual disabilities. Journal
of Intellectual Disabilities, 13, 221239.
US Department of Commerce. (1995). Dropping out and
disabilities. Bureau of the census population survey.
Unpublished data.
Wasan, A. D., Butler, S. F., Budman, S. H., Fernandez, K.,
Weiss, R., Greenfield, S., & Jamison, R. N. (2009).
Does report of craving opioid medication predict aberrant drug behavior among chronic pain patients? The
Clinical Journal of Pain, 25(3), 193198.
Werch, C. E., Owen, D. M., Carlson, J. M., DiClemente,
C. C., Edgemon, P., & Moore, M. (2003). One-year
follow-up results of the STARS for families alcohol
prevention program. Health Education Research,
18(1), 7487.
Wolin, S. J., & Wolin, S. (1993). The resilient self: How
survivors of troubled families rise above adversity.
New York: Random House, Inc.
Yen, C. F., Lin, J. D., Loh, C. H., Shi, L., & Hsu, S.
W. (2009). Determinants of prescription drug use
by adolescents with intellectual disabilities in Taiwan. Research in Developmental Disabilities, 30,
13541366.
Zollinger, T. W., Saywell, R. M., Muegge, C. M.,
Wooldridge, J. S., Cummings, S. F., & Caine, V. A.
(2003). Impact of the life skills training curriculum on
middle school students tobacco use in Marion County,
Indiana, 19972000. Journal of School Health, 73,
338346.
Research Methods
and Epidemiology for Children
19
David Hollar and Arun Karpur
Abstract
Children with special health care needs (CSHCN) are the subject of many
research activities that aim to directly or indirectly benefit CSHCN. Consequently, researchers must abide by high ethical standards in the planning, design, conduct, reporting, and protection of CSHCN data in their
research work. Most importantly, researchers must view and respect
CSHCN research participants as unique individuals with equal human and
civil rights. The purpose of this chapter is to describe appropriate research
design approaches, research ethics, respect for CSHCN, their families,
and privacy rights, and epidemiological statistical methodologies. We discuss these issues within the context of biopsychosocial models such as the
International Classification of Functioning, Disability and Health (ICF),
Healthy People 2010 and 2020, Focus Group 6 (Disability and Secondary
Conditions), as well as with respect to US legislation such as the Family
Educational Rights and Privacy Act (FERPA) and the Health Insurance
Portability and Accountability Act (HIPAA). Throughout research activities with CSHCN, the focus should be on rigorous methods that have the
potential to benefit CSHCN while minimizing risks and protecting individual rights of CSHCN.
D. Hollar ()
University of North Carolina at Chapel Hill,
7530 Chapel Hill, NC 27599, USA
e-mail: David_Hollar@med.unc.edu;
A. Karpur
Employment and Disability Institute, ILR School,
Cornell University, 16E 34th ST, New York,
NY 10016, USA
e-mail: ak564@cornell.edu
369
370
Abbreviations
AAP American Academy of Pediatrics

ANOVA Analysis of Variance
AUC Area under the Curve
Care Needs
FERPA Family Educational Rights and
Privacy Act
HHS US Department of Health and
Human Services
HIPAA Health Insurance Portability
and Accountability Act
ICDR Interagency Committee on
Disability Research (U.S.)
IRB Institutional Review Board
MANOVA Multiple Analysis of Variance
NICHD National Institute of Child
Health and Development
NIH National Institutes of Health
NS-CSHCN National Survey of Children
Needs
RCT Randomized Clinical Trial
ROC Receiver Operating Characteristic
SAS Statistical Analysis System
(SAS Institute, Cary, NC)
SEM Structural Equation Model
SPSS Statistical Package for the
Social Sciences (SPSS, Inc.,
Chicago, IL)
USC United States Congress
19.1Introduction
Studying the life course experiences of children
with special health care needs (CSHCN) follows
parallel methodologies utilized by educational
researchers and public health epidemiologists.
Specifically, CSHCN researchers incorporate
Poppers (1935, 2002) deductive approach involving the development of falsifiable hypotheses or research questions emerging from the re-
D. Hollar and A. Karpur
search literature, followed by structured research

designs involving consenting participants to test
the hypotheses. Researchers can conduct less
structured, qualitative, and ethnographic analyses
as well within grounded theoretical constructs,
although such methodologies might be difficult
to interpret and generalize to other populations
without an arsenal of comparative studies that
use complementary methodologies (Rothman
and Greenland 1998).
The importance of measuring attributes (e.g.,
health, educational, environmental, attitudinal)
of CSHCN is the same as for any human subjects
research involving any group of persons: (a) to
collect data for theory testing to expand knowledge base; (b) to advance applied knowledge
involving products and services for this population; (c) to inform practitioners and policymakers
for improving systems to serve this population;
and (d) to provide feedback to this population
for their welfare, personal information, and advocacy work. Methods of data collection include
direct observation (e.g., ethnography, ethology)
of CSHCN; interviews with CSHCN and/or parents, guardians, caregivers, teachers, counselors,
peers, etc.; access to school records (with permissions in the United States under the Family
Educational Rights and Privacy ActFERPA;
Buckley Amendment Title IX of the Higher Education Amendments of 1972USC 1232g, 34
CFR 99); access to health, medical records, and
other clinical data (with permission in the United
States under the Health Insurance Portability and
Accountability ActHIPAA; 1997 Amendment
Part 7 to Title 1 of the Employee Retirement
Income Security Act of 1974; 42 USC 1320d1320d8, Public Law 104-191, sections 262 and
264; see Hollar 2009); and secondary analyses of
existing databases collected by other researchers
or by private and government agencies (e.g., National Center for Education Statistics; National
Center for Health Statistics).
19.2Participant Rights
The individual CSHCN is the subject of these research activities, which in turn should have outcomes that directly or indirectly benefit CSHCN.
19 Research Methods and Epidemiology for Children with Special Health Care Needs
Consequently, researchers must abide by high

ethical standards in the planning, design, conduct,
reporting, and protection of CSHCN data in their
research work. Most importantly, researchers
must view and respect CSHCN research participants as unique individuals with equal human
and civil rights. Typically, researchers are required to certify completion of human subjects
research training, complete Institutional Review
Board (IRB) documentation with IRB approvals for conducting the research, including study
design, protection of participants, and reporting
of incidents that affect participants. Researchers
must be authorized and trained in proper storage
and maintenance of security for confidential individual data, and they must report on all aspects of
a project to organizations, communities, funders,
government representatives, external auditors,
and/or project advisory boards.
Central to the entire research process is the
individual CSHCN research participant and her/
his rights. No matter what pressures or data needs
might confront the research project, the researcher must respect the wishes of individual participants and their families, including their denial of
consent to perform research or collect data (while
they still receive needed services) and their right
to revoke consent for the researcher to use their
data at a later time (unless the data have been
deidentified with no linkage to consent forms).
In other words, the research participant can participate in a study and receive services, but the
researcher cannot use the data if the participant
refuses such use. Furthermore, in the case of a research design with experimental/control groups
where the experimental group receives a special
service, intervention, or treatment that is potentially beneficial for health and/or quality of living, the researcher has the responsibility to offer
the service, intervention, or treatment to all participants at the close of the study if they did not
receive the service during the study.
The researcher must minimize participant
risks during the research study, including pain,
injury, psychological trauma, loss/theft of data,
and breach of confidentiality. Participant compensation is usually optional, but in no instance
should any research participant be coerced into
371
a research study. For CSHCN, the researcher

must describe the study and read the consent
form to the child and/or parent/guardian, who
must clearly understand the purpose of the study,
their rights, and all risks involved in the study.
Researchers must also use appropriate disabilityspecific language (Gouvier and Coon 2002; May
and Ferri 2005). For educational and psychological testing involving performance and achievement testing for promotion, CSHCN should have
ample time, accessibility (e.g., alternative forms,
computerized and online tests, Braille versions,
proctor to read the test to the participant), and
multiple chances at successful completion of
tests (American Educational Research Association etal. 1999). The American Educational Research Association, American Psychological Association, and the National Council on Measurement in Education together published Standards
for Educational and Psychological Testing, a
useful guide for proper study design, validation
of test instruments, reporting, and protecting the
rights of study participants, including children
with disabilities.
19.3Research Design Issues

Too many researchers focus too strongly on obtaining data, analyzing, and publishing, all too
often neglecting proper study designs resulting in
weak analyses that invalidate their original hypotheses, pose numerous needless study limitations that must be reported (further casting doubt
on the studys conclusions), and that constrain
the study to either no publication or publication
in lower-tier journals. The implementation of a
proper study design, participant roll, and analysis
plan is a simple straightforward process that can
prevent much research grief, delays, and post hoc
study modifications once the study is complete.
The National Research Council (2002), led by
several prominent scientists (Feuer et al. 2002;
Shavelson and Berliner 1988), has argued for a
more scientifically based educational research
paradigm to address perceived weaknesses in the
quality of educational research. Their recommendations included greater emphases on research
372
design, methodological rigor, peer-reviewed

regulation, and the establishment of a national
educational research agency, while stressing that
good educational research can include qualitative as well as quantitative methodologies (Feuer
et al. 2002). Furthermore, this policy report acknowledged the weaknesses in current scientifically based research across most disciplines,
including medicine and the physical sciences.
CSHCN researchers have also stressed the need
for greater methodological rigor (Fields and Jette
2007; Frontera 2006; ICDR 2007).
19.4Research Methodologies
The type of research setting and the experimental, quasiexperimental, or nonexperimental
research design determine the type of research
questions that can be asked and the appropriate
analytical research methodology. Too often, researchers formulate a poor set of research questions, provide no questions at all, and/or choose
a convenience sample of subjects, subsequently
providing subjects with hastily assembled questionnaires or marketed instruments of questionable validity, reliability, and generalizability, followed by data mining for significant results.
Equally problematic are nonrandom assignments
of subjects to control and experimental/intervention groups, the use of brief, ineffective
interventions, and/or the presence of multiple
confounders (e.g., previous experience, heightened awareness of the experimental scenario).
Such problems pose numerous threats to the
internal and external validities of the research
study. Careful planning and simple procedures
established at the beginning of the research development plan can greatly improve the quality
of a research study while simultaneously making
the experiment a worthwhile experience for the
participants.
For research studies, validity refers to the accuracy of an analysis: the capacity for a set of
measurement instruments/questions to accurately identify a condition or characteristic. Closely
connected to validity is reliability: the capacity
for a set of measurement instruments/questions
to consistently be in agreement (precision) for

whatever it is that they are supposed to measure.
Validity requires reliability, but not the converse.
For example, a set of questions might consistently agree on a measurement, but they might not
necessarily correctly be measuring what the researcher believes them to be measuring. Finally,
generalizability is the capacity of measurement
instruments/questions to yield similar results regardless of the type of people (i.e., the sample
population) who are measured (Crocker and
Algina 1986; Gay 1992; Lissitz and Samuelsen
2007; Messick 1988).
19.4.1True Experimental Designs

Research designs may be experimental, quasiexperimental, or nonexperimental in nature (Gay
1992). True experimental designs include:
(a) pretest-posttest control group designs, (b)
posttest-only control group designs, and (c) Solomon four-group designs (Gay 1992). The pretest-posttest control group experimental design
involves random selection of subjects to two or
more groups that differ by the treatment/service/
intervention that is given to them. For example,
group 1 is the control that receives no service
or receives only the usual service that all of the
groups typically receive, whereas group 2 receives a new educational module on top of usual
education, and group 3 receives an even stronger exposure (e.g., duration) to the educational
module. All groups take a pretest before the treatment, which is followed by a posttest. In the subsequent analysis, the independent variable (i.e.,
that variable that changes between the groups, in
this example an educational module) is assessed
for its effect upon the dependent variable (i.e.,
the outcome, in this exampledo students learn
more?). The main weakness to this type of experimental design is the possibility of persons from
all three groups, including the control, becoming
sensitized to the purpose of the study when they
are taking the pretest (Gay 1992).
For a posttest only control group experimental design, the setup is similar, except that the
groups do not receive a pretest. This design is
weaker because the researcher cannot determine

if the tested groups differed on a characteristic
at the beginning of the study. Consequently, the
researcher cannot definitively determine if any
posttest difference between the groups is due to
the effects of the intervention or from the test, the
measurement instruments, regression of subject
responses to the mean score, or due to interactions with confounder variables (e.g., differences in testing environments, cross-talk between
group participants, demographic variables such
as gender and race, etc.; Gay 1992).
The strongest true experimental design is the
Solomon four-group experimental design: subjects are randomly assigned to the four groups.
Two groups receive a pretest, two groups do not,
thereby allowing the researcher to later assess
the effects of the pretest and differences across
groups. Of the two pretest groups A and B, group
A is the control or comparison group, whereas
group B receives the new treatment. Likewise, of
the two nonpretest groups C and D, group C is
the control or comparison group, whereas group
D receives the new treatment. All groups receive
the posttest. With this design, the researcher can
control the intervention and the effects of testing,
thereby removing many threats to the validity of
the experimental design (Gay 1992). Certainly,
confounders can exist that contribute to certain
interactions, but the researcher can measure
across several demographic variables in an attempt to control or measure the effects of other
factors (referred to as covariates).
19.4.2Quasiexperimental Designs
Quasiexperimental designs do not utilize random
assignment of subjects to groups. They include:
(a) nonequivalent control group designs; (b) time
series designs; and (c) counterbalanced designs
(Gay 1992). A nonequivalent control group design is identical to the pretest-posttest control
group experimental design except for no random
assignment to groups. The comparison and intervention groups receive a pretest, then an intervention (except for the control/comparison
group), then a posttest. Because of nonrandom
373
assignment of participants to groups, threats to

internal validity of the research design include
regression of participant scores to their group
means coupled with biased interactions between
groups and participant composition, while external threats include pretesttreatment interactions
(where the pretest cues the participants to the nature of the study and its expected outcome; Gay
1992).
Time-series designs are widely used by researchers and are valuable in that they allow the
researcher to collect multiple measurements on
individuals over time, thereby allowing for more
realistic assessments of individual and group
change. One or several groups can each receive
one or many successive pretests, with a treatment following the last pretest, followed by one
or many successive posttests. Internal threats to
validity include unknown historical effects (immediate and global) on each individual in the
study, validity of the pretest and posttest instruments, while external threats to validity include
pretesttreatment interactions again (Gay 1992).
It is possible to control for these threats by random assignment of individuals to groups, and it
is also possible to merge this approach with any
of the three true experimental designs, although
pretesttreatment interactions might persist in
such a more complicated time-series experimental setup, which also would require very large
numbers of participants. Nevertheless, longitudinal studies of individuals and groups can provide more accurate and realistic measurements of
interventions and outcomes (Hollar 2005; Singer
and Willett 2003).
Counterbalanced quasiexperimental research
designs involve interchanging pretests, then
treatment, posttest, then second treatment, second posttest, then third treatment, then third posttest, etc. Different comparison groups receive
the treatments in different orders. Therefore, six
comparison groups with three treatments would
receive treatments in the order 1-2-3, 1-3-2,
2-1-3, 2-3-1, 3-2-1, and 3-1-2, respectively. Participants typically are not randomly selected to
a particular ordered treatment group but instead
enter the study and receive the treatments randomly, thus establishing their group membership.
374
An internal threat to validity would be participant

ordering bias effects, while external threats to
validity include testtreatment interactions and
the confounding effects of multiple treatments
(i.e., which treatment affected final outcomes
more; Gay 1992). A more structured approach to
counterbalanced research designs would involve
random assignment of subjects to groups, with
adequate statistical power (described below) for
numbers of persons per group, the use of standardized and/or equivalent test instruments per
pretest and posttest (Crocker and Algina 1986),
and interventions that are similar but contain a
distinctive component unique to the treatment.
The advantage of counterbalanced designs is the
control for ordered treatment effects. However,
the more treatments, the more ordered scenarios
that are required (e.g., six groups for three treatments; 24 groups for four treatments, etc.).
19.4.3Nonexperimental Research
Designs
Nonexperimental research designs include:
(a) one-shot case studies, (b) one-group pretestposttest designs, and (c) static group comparisons
(Gay 1992). The one-shot case study involves
measurement of a single group of individuals, or
even of a single individual. There is an intervention and posttest, or some other combination of
these and other methods. In ethnography, the researcher would directly observe individuals and
collect data during the observations, or the individuals might write a journal of their activities
and reflections that the researcher subsequently
analyzes. Ethnographic techniques, which often
are considered separate from nonexperimental
research designs, have many of these same research design features. Ethnographic research
designs using one-shot case studies can involve
the researcher recording all behaviors by an individual or group during a specified time period,
selected behaviors, or time duration of behaviors.
With the complexity of behaviors in even small
groups, videography and follow-up analyses
of subject recordings can be scored by several
trained observers/raters, with their level of agree-
ment on subject measurements being evaluated

with valid statistical techniques (Crocker and
Algina 1986).
Variations of the one-shot case study include
a one-group pretest-posttest design, which is just
the one-shot case study with a pretest added, and
static group comparisons, which are one-shot
case studies applied to two or more groups with
differing treatments followed by a posttest. All
of the nonexperimental research designs suffer
internal threats to validity including historical
effects on participants, changes in participants
during the course of the study, loss of subjects
from the study, and selection effects due to nonrandom assignments of individuals to groups or,
as usual, already existing groups being studied
(Gay 1992). External threats to validity for these
designs include testtreatment interactions (Gay
1992). With ethnographic observations or for
experimental designs, individuals heightened
awareness of being observed (i.e., Hawthorne effects) can influence how they behave and how
they respond to questions on psychometric instruments, thereby affecting researcher interpretations of results.
Nevertheless, the one-shot case study is
widely used and can be extremely valuable in
collecting realistic behavioral data on subjects
that would have been missed in a structured psychometric instrument or a checklist of standardized items. Ethnographic one-shot studies (e.g.,
focal group or individual observations, all occurrences recording of group behaviors) require
many hours (e.g., hundreds of hours) of observing and recording, but they have been shown to
yield dynamic behaviors over time that can be
mathematically modeled and applied to further
research and policy.
In all of these designs, it is important for the
researcher to consider time delays between the
pretests, interventions, and posttests. Time effects, communications among participants, historical events in participants lives, demographic
histories, and many other factors can have subtle
effects on how people behave or respond to questions. Furthermore, the researcher must carefully
prepare the research design, effective interventions for measurement, and the measurement
instruments that must be reliable and valid for

accurate measurement of the effectiveness of interventions as well as desired outcomes for the
participants in the research study. Research design is a critical but not overly complicated task
that is essential for a successful study, regardless
of the research outcome.
19.5Research Questions
The research design must be established to
achieve the research questions before the study
begins. Research questions can be stated in a
directional or nondirectional format. With a directional research question, the researcher states
that Intervention A will yield significantly better
outcomes (i.e., posttest) than Intervention B or a
control/comparison group. With a nondirectional
research question, the researcher states only that
there will be a difference between the two interventions, with no preference to either situation.
In hypothesis testing, a variation on the nondirectional research question is the null hypothesis,
which specifically states that there will be no significant difference between the intervention and
control/comparison groups. The null hypothesis
has been traditionally used in research studies
and is still widely used, particularly in clinical trials research involving true experimental designs.
However, a variety of educational and public
health research projects have shifted to general
and directional research questions that are more
sensitive to research participants needs as well
as exploratory studies designed to record novel,
unpredicted behaviors. Along these lines, studies
involving emergent properties of groups and systems have utilized mathematical models, which
attempt to mirror actually recorded behaviors.
The set of research questions that the researcher has set for the study determine how the research
design will be established to answer the questions,
how a proper population will be selected for sampling of participants, and how many participants
(and in what proportions) will be assigned to experimental/intervention and control/comparison
groups. Statistics and methods of analysis (described below) must match the research questions
375
and design. There can be no adequate statistical

fix for a poorly designed study.
Furthermore, research questions need to
state specific outcomes to be measured that line
up with the specific aims/goals of the study. If
a researcher hopes to assess if Intervention M
improves educational outcomes (e.g., science
standardized test scores, graduation rates, college attendance) for CSHCN, then they need to
specifically state each outcome with its own research questions or null/directional hypothesis.
This means that the researcher will pose the question, then design the research study where a comparison between two or more interventions can
be made, adequate numbers of participants are
available, and instruments are provided to participants in order to measure specific independent
and dependent variables. The independent variable will be what is different between the various group treatments/interventions, whereas the
outcome of the experiment, intervention, or treatment will be the dependent variable (i.e., what
happens). Finally, many research studies utilize
participants opinions on attitudes surveys as outcome, dependent variables, which may be fine
for an attitudinal study; nevertheless, attitude responses are subject to substantial participant bias,
responses based upon social desirability instead
of actual opinions, and can seriously limit study
interpretations if a concrete outcome objective is
needed. If an intervention is designed to improve
educational achievement, test scores, blood pressure, or resistance to disease, then specific measurements should be obtained with standardized
instruments, not relying on what participants
thought happened in the experiment.
19.6Research Objectives for CSHCN

For CSHCN, researchers can turn to public
health, medical, and educational agencies for
relevant outcomes that can improve the health
and lives of CSHCN. One valuable source is
Healthy People 2020 (HHS 2009), a set of US
goals and objectives for the American population that builds upon a previous iteration of
Healthy People 2010 objectives. Healthy People
376
2010 and now 2020 objectives have been developed by the U.S. Department of Health and
Human Services (HHS), U.S. Centers for Disease Control and Prevention (CDC) with the
help of public forum input from state and local
public health departments, physicians, other
health professionals, educators, academics, service agencies for various populations, state and
local tribal agencies, and advocacy groups. The
Healthy People 2020 goals are designed to set
baseline measures and 10-year improvement
goals that improve the nations health. The CDC
further works with the World Health Organization to translate these goals cross-nationally and
culturally for use in improving global health
across all countries.
Healthy People 2020 (HHS 2009) objectives for CSHCN include maternal, infant, and
child health objectives: (1) reduce the rate of
child deaths; (2) reduce deaths of adolescents
and young adults; (7) reduce low birth weight
and very low birth weight; (8) reduce preterm
births; (9) increase the percentage of healthy
full-term infants who are put down to sleep on
their backs; (10) increase abstinence from alcohol, cigarettes, and illicit drugs among pregnant
women; (11) reduce the occurrence of fetal alcohol syndrome; (13) increase the proportion of
CSHCN who have access to a medical home;
(14) increase the proportion of CSHCN who
receive their care in family-centered, comprehensive, coordinated systems; (15) reduce fetal
and infant deaths; (18) reduce the proportion of
children diagnosed with a metabolic disorder
through newborn screening who experience developmental delay requiring special education
services; (19) decrease the proportion of children
with cerebral palsy born as low birth weight infants (< 2,500g); (20) reduce the occurrence of
neural tube defects; (22) ensure appropriate newborn blood-spot screening and follow-up testing; (29) increase the 1-year survival rates for
infants with Down syndrome; and (30) increase
the percentage of young children with an Autism
Spectrum Disorder (ASD) and other developmental delays who are screened, evaluated and
enrolled in early intervention services in a timely
manner. Major data sources that the CDC will
use to evaluate national progress on these measures will include: National Vital Statistics System, National Hospital Discharge Survey, NIH/
NICHD National Infant Sleep Position Study,
National Survey on Drug Use and Health, CDC
Pregnancy Risk Assessment Monitoring System,
CDC Fetal Alcohol Syndrome Surveillance Network, National Immunization Survey, National
Birth Defect Prevention Network, National Newborn Screening and Genetic Resource Center,
and the National Survey of Children with Special
Health Care Needs (NS-CSHCN). Many of these
data resources are described with greater detail in
Horner-Johnson (see Chap.16).
Healthy People 2020 (HHS 2009) objectives
also include disability and secondary conditions
goals: (1) include in the core of all relevant
Healthy People 2020 surveillance instruments a
standardized set of questions that identify people with disabilities; (2) reduce the proportion
of children and adolescents with disabilities who
are reported to be sad, unhappy, or depressed;
(5) increase the proportion of children and youth
with disabilities who spend at least 80 percent
of their time in regular education programs;
(6) increase the proportion of people with disabilities who report having access to health and
wellness programs; and (11) reduce the proportion of people with disabilities who report unmet
needs for assistive devices, service animals, technology services, and accessible technologies they
need. Major data sources for monitoring include
the National Health Interview Survey and the
National Survey of Children with Special Health
Care Needs.
Additional Healthy People 2020 objectives
that impact CSHCN are found in many other
sections of the goals (HHS 2009). The nature of
the goals outlined above is clearly amenable to
development for specific research questions and
available databases. Unfortunately, many of the
databases outlined above were not developed
specifically with Healthy People 2010 and 2020
goals in mind. Consequently, a major limitation
of secondary analyses of these (and other) databases to evaluate outcomes for CSHCN and other
children with disabilities has been varied definitions of CSHCN and disability as well as con-
siderable variation in the types of variables that

have been measured in the surveys/databases and
the ways in which the data have been reported
for variables.
Consequently, many researchers try to work
with advocacy groups for CSHCN and children
with disabilities to recruit appropriate samples
of participants for research studies. Such studies
require careful development of research questions, interventions, measurements, and design
that take into consideration human subjects and
ethical considerations outlined above.
19.7Validation of Measurement
Instruments
As described above, validity (Messick 1988)
refers to the capacity of a measurement instrument to accurately measure what it purports to
measure. Validity typically is used to describe
psychometric instruments and tests, that is, lists
of questions or statements to which study participants respond. Major types of validity include:
(a) content, (b) criterion, and (c) construct validity. Ideally, measurement instruments should
meet all three types of validity, although this result is not often achieved. Indeed, many studies
are conducted with nonvalidated or poorly validated instruments, or the studies might report a
Cronbachs alpha value >0.90, which is a strong
measure of reliability, not validity (see above)!
Content validity represents an assessment of
instrument content, item by item, with conclusion that the items/questions collectively measure a specific domain of behaviors, attitudes, or
knowledge (Crocker and Algina 1986; Messick
1988). Content validity, sometimes referred to
as face validity, is usually determined by consensus agreement among a panel of experts who
have extensive knowledge and training in measuring the psychometric construct for the instrument questions or items.
Criterion validity involves correlating the
psychometric instrument or test with a specific,
definitive outcome. For example, a criterion-validated achievement test would highly correlate
(e.g., r0.80) with high grades for a randomly
377
selected population of students. Thus, before

being used in a study, the psychometric instrument or test must be given to students with results
being statistically correlated with student grades
and other academic performance measures. Criterion validity often is divided into Concurrent
and Predictive validity. Concurrent validity compares a psychometric test with a comparable,
accepted, and established test (e.g., Scholastic
Aptitude Test and the ACT). Predictive validity
compares psychometric test performance with
subsequent performance (e.g., knowledge test vs.
later grades).
Construct validity, often considered the most
robust validity measure, assesses how well a
psychometric test and its items correlate with
specifically stated psychometric domains and
subdomains. The method of analysis involves
factor analysis, which can be further elaborated
with structural equation model (SEM). SEM
evaluates a set of test results, item by item, versus a specified conceptual model of how the
items relate to the psychometric domain and its
subdomains.
Comparable to validity, sensitivity, and specificity (Rothman and Greenland 1998; Swets etal.
2000) are epidemiological determinants of how
well a diagnostic device, instrument, or procedure correctly predicts a given condition. These
determinants can be applied to devices or psychometric instruments and are similar to Criterion validity in that a device or test is compared
with a definitive, established measurement (e.g.,
a test of cancer vs. actual cancer occurrence).
Sensitivity of a test is the ratio of the number
of true positives (i.e., people with a given condition and detected by the test) divided by the
combined number of true positives plus false
negatives (i.e., people with the condition who are
incorrectly tested as not having the condition).
Therefore, sensitivity varies from 0 to 1 and for a
good test should be close to 1. Conversely, specificity of a test is the ratio of true negatives (i.e.,
people without a given condition who are tested
as such) divided by the combined number of true
negatives plus false positives (i.e., people without
the condition who are incorrectly tested as having
378
the condition). Specificity also varies from 0 to 1

and for a good test should be close to 1.
Together, sensitivity and specificity of a test
can be calculated via a contingency table and
graphed using a Receiver operating characteristic
(ROC) curve (Swets etal. 2000): a steeper curve
with greater area under the curve (AUC) versus a
nonsignificant diagonal line (i.e., the test cannot
detect the condition better than chance) indicates
a strong test. Even so, definitive measures can
be difficult to obtain, so Swets etal. (2000) recommend a triangulation approach with multiple
tests to correlate with a definitive outcome measure.
19.8Analytical Methods
A variety of statistical approaches can be applied
to quantitative and qualitative data collected from
research studies. Quantitatively, if data for a given
independent or dependent variable are scaled
with a limited set of discrete responses (e.g.,
Yes-No, Agree-Disagree, Rating on a 17 scale),
then nonparametric statistical analyses should
be used. If the data for a given variable are continuous (e.g., no discrete values such as height,
weight, blood pressure, blood serum levels of
biochemicals, velocity), then parametric statistics can be used in the analysis. Discrete variables
classified into categories can be compared on
continuous variables using parametric statistics.
A variety of statistical packages are available for researchers to analyze quantitative data.
Among the most widely used statistical packages
are Statistical Analysis System (SAS), marketed
by the SAS Institute, Cary, NC; Statistical Package for the Social Sciences (SPSS) marketed
by IBM/SPSS Inc., Chicago; Stata marketed by
StataCorp, College Station, Texas; and the freeware R, distributed online by www.r-project.
org. These packages can analyze basic and multivariate data with similar approaches. More advanced statistical packages are available for specialty topics (e.g., multilevel and structural equation modeling). Qualitative data can be analyzed
for text content and language processing using
software such as NVivo, marketed by QSR International, Melbourne, Australia.
Nonparametric statistical analyses include

Chi-Square contingency table cross-tabulation
analysis for single pairs of variables (e.g., independent and dependent variables). For multiple
categories, KruskalWallis analyses can be used.
For ordinal data, the MannWhitney U test and
Sign Tests can be used.
Parametric statistical analyses include Students t test, which is the parametric counterpart
of the chi-square test. For multiple categories
of both independent and dependent variables,
Analysis of Variance (ANOVA) and Multiple
Analysis of Variance (MANOVA) can be used.
Furthermore, unlike nonparametric statistics,
confounders can be controlled as covariate variables via Analysis of Covariance (ANCOVA) and
Multiple Analysis of Covariance (MANCOVA).
For multiple predictors of single or multiple outcomes variables, multivariate regression can be
used. Binomial or logistic regression can be used
for nonparametric statistics.
Many of these tests are complicated and bewildering to the novice, so researchers should
have substantial training in research design and
methodological analysis or have collaborators
with such experience. The tests have a common
grounding in statistical theory and are logically
related. Besides the statistical analysis needed for
the research study, there are many issues involved
in preparing and weighting data for a proper
analysis, based upon the sample characteristics.
In addition, there are important considerations to
evaluate when interpreting results. For example, is
a significant result truly meaningful in terms of
effect size difference and statistical power? For the
latter, Cohen (1988) has prepared a valuable book
of reference tables for interpreting results (and
for setting up good experimental designs to start);
SAS and SPSS have statistical power calculation
modules that complement Cohens (1988) tables.
19.9Examples of Research Studies

and Analysis
Research involving CSHCN has taken on many
different forms over the past 20 years, so we have
highlighted a very few samples that illustrate a
small sampling of the diversity of methodologies
outlined above: (a) clinical trials, (b) secondary

data analysis, (c) community-based study, and
(d) ethnographic study.
19.9.1Clinical Trials Example

Though not many studies have employed the
method of Randomized Clinical Trials (RCT)
in studying the impact of shift in health services
systems for CSHCN, few studies in the area of
asthma care have utilized this method with some
success. For example, an RCT study conducted
by Lozano etal. (2004) reported improved outcomes for children with asthma among those
with access to planned care services (nurse-mediated organizational change plus peer leader education) versus only peer leader education for physicians. The study was a three-arm cluster RCT
design with three interventions: (a) peer leader
education intervention; (b) planned care intervention with organizational change, including
peer leader training; and (c) no intervention or
usual care situation. The trial was conducted by
randomly assigning 42 clinical practices spread
across three states into the three study arms. As
randomization was conducted at the unit above
the actual unit of analysisi.e., clinical group
practices versus patientsthe design is a cluster
randomized design. Children in the planned care
arm had highest levels of improvement in clinical care outcomes and were less likely to experience asthma symptoms per day compared with
the children in the other arms. The intervention
also improved overall functional health status
of asthma patients in the two intervention arms
compared with the control arm with treatment as
usual (Lozano etal. 2004).
19.9.2Secondary Data Analysis

Strickland et al. (2004), conducted analysis of
data using the National Survey of Children with
Special Health Care Needs (NS-CSHCN)
a nation-wide representative sample survey conducted in 2001 to provide information on the
prevalence of CSHCN in the United States and
access to transition planning and availability of
379
access to family-centered coordinated care to

medical homes for CSHCN. This survey sample
was based on another National Immunization
Survey, conducted by the National Center for
Health Statistics and households of this survey
were administered a CSHCN screener questionnaire to identify eligible households for the interview. A minimum of 750 eligible households
were interviewed per state in the United States
for the NS-CSCHN.
In their analysis, Strickland etal. (2004) developed criteria assessing access to medical
home by combining the responses to the survey items reflecting access to: (a) usual source
of medical care; (b) personal physician and/or
nurse; (c) referral services for specialty care, if
needed; (d) care coordination; and (e) familycentered care. Individuals providing affirmative
responses to all of these items were considered
to have access to medical home and those responding negatively to one or more items were
considered not having access to medical home in
accordance with the American Academy of Pediatrics (AAP) policy statement on Medical Home
(AAP 2002). Using logistic regression analysis,
the authors reported that only 53% of CSHCN
had access to medical home and those who did
not have access to medical home were two times
more likely to experience delayed or forgone
care, have unmet health care needs, and three
times more likely to have unmet family support
services in comparison to those having access to
medical home as defined within the survey. Also,
as expected, the sociodemographic variables of
poverty and racial minority status continued to
further disadvantage CSHCN who did not have
access to medical homes compared with those
who did.
Chen and Newacheck (2006) also analyzed
the NS-CSHCN data sets to study the impact of
health insurance coverage on financial burden to
the family of children with CSHCN. Overall, onethird of families indicated a substantial impact on
family finances due to special needs for the child
with special health care needs and having access
to uninterrupted insurance coverage for CSHCN
significantly reduced the impact on their finances. Nageswaran (2009) further highlighted unmet
respite care needs for CSHCN, where nearly one
380
quarter of those CSHCN needing respite care

never received such services. Her analysis further
highlighted the needs for empowering caregivers
of CSHCN with complex conditions for improving access to such services.
Some other examples of research studies utilizing secondary data sets include a study conducted by Boulet et al. (2009) using data from
the National Health Interview Study, to examine
the prevalence of functional limitations and service use among a subpopulation of CSHCN. Furthermore, Newacheck and Kim (2005) utilized
data from the Medical Expenditure Panel Survey
(MEPS) to develop national estimates on health
care costs for providing care to CSHCN. Though
a detailed discussion of these data sources is out
of scope for this chapter, readers are encouraged
to visit resources to become acquainted with different sampling methods, and screening instruments utilized in these surveys as this discussion
was for illustration of use of secondary data sets
in research pertaining to CSHCN.
Secondary data sets have also been used in
cases for evaluating impact of program interventions. For example, Casey etal. (2011) used hospital record data and linked them to state Medicaid
data to study the impact of medical home programs
providing coordinated care on average costs of
services for CSHCN in Arkansas. They identified
that average per patient per month cost for those
in intervention group reduced by US$1,179 compared with the group of CSHCN who did not have
access to medical home programs.
19.9.3Community-Based Study
Lotstein et al. (2008) conducted a communitybased study surveying CSHCN who graduated
from the federal Title V program of Social Security Act that provides access to health care and
financial supports for CSHCN via communitybased special centers. The study was primarily
conducted to understand the transition to adult
care system for CSHCN who graduate from these
programs and identify gaps in care for health care
services. Seventy-one program graduates were
interviewed to study outcomes across the four
domains of: (a) continuity in age- and conditionappropriate care, (b) access to health insurance,
(c) development of self-care management skills,
and (d) access to vocational and education services. Only one-third of graduates from the Title
V program were enrolled in Medicaid, while
most did not have continuing source of coverage
of health care expenses despite persistent need
for services. In addition, among those who had
health insurance, about one-third had delayed
or forgone necessary care services, indicating
the need to connect these young people to usual
source of care in addition to enhancing their access to health insurance.
19.9.4Ethnographic Study
One of the important studies applying ethnographic principles was conducted by Reiss etal.
(2005) that looked at understanding transition
to adulthood experiences of CSHCN and their
families, as well as identifying factors that facilitate or pose barriers in transition to adult health
care system for CSHCN. The authors conducted
34 focus group discussions and interviews with
CSHCN, their family members, and health care
providers. All the focus groups data were transcribed verbatim and accuracy of transcript was
checked by two reviewers. Data from this qualitative study were then analyzed using ATLAS.ti
software to identify cross-cutting themes across
these interviews. Some of the findings from their
research highlighted great need for careful planning and understanding of developmental stages
of transition to adulthood for CSHCN and exposed some of the systematic barriers in public
health insurance systems. This study also emphasized on needs to provide skills for CSHCN in
the area of self-management and self-advocacy
as they transition into their adult lives.
Gannotti etal. (2004) conducted ethnographic study to understand the influence of cultural
values on understanding the unmet health care
needs of Latino and Euro-American families
with CSHCN. Their detailed analysis highlighted
important differences between the Latino and
Euro-American families expectations in the
area of respite care and role of professionals

involved in care. Latino families neither understood nor expressed the need for respite care and
expressed their concerns for leaving their child
under the care of someone else. Also, these families believed that responsibility of coordinating
care lied in the hands of professionals working
with CSHCN. On the contrary, Euro-American
families valued respite care for the purposes of
their socialization and were highly engaged in
ensuring care coordination for their CSHCN.
In addition, their analysis also highlighted differences among providers views and their barriers in providing services to these families. For
instance, few providers helping Latino families
indicated an overuse of their services and higher expectations beyond their institutional realms.
Differences were also observed where more Latino families indicated unmet needs in the areas
of unresolved health care problem, rehabilitation therapy, or need for information or support
groups, whereas the Euro-American families
generally cited unmet needs in the areas of respite care services, lack of daily care services,
recreational program, and home health aide. This
study uniquely studied the difference in the Latino and Euro-American cultures in understanding
their unmet needs and echoed the need for greater
cultural sensitivity and innovate approaches in
service delivery systems for CSHCN.
19.10Summary
Research to improve the health and quality of life
of CSHCN requires careful development of appropriate research questions, a rigorous research
design, provisions for protection of CSHCN and
their families, consent and open communication
on all aspects of the study for CSHCN and their
families, and statistical analyses that match the
research design. One important component of
the research study is to have an advisory board
consisting of knowledgeable scientists, policy
makers, advocates for CSHCN, and persons with
disabilities; the advisory board can help guide
the study and its potential benefits for CSHCN.
Ethical research studies can greatly assist disabil-
381
ity researchers and policy makers to provide improved educational, assistive device, and health
services for children with disabilities so that they
can have high quality of life and opportunities for
optimal childhood and lifelong experiences.
References
American Academy of Pediatrics. (2002). Medical
home initiatives for children with special needs project advisory committee: The Medical Home. Pediatrics, 110, 184186.http://pediatrics.aappublications.
org/content/110/1/184.full.html.
American Educational Research Association, American Psychological Association, National Council on
Measurement in Education. (1999) Standards for
educational and psychological testing. Washington:
American Educational Research Association.
Boulet, S. L., Boyle, C. A., & Schieve, L. A. (2009).
Health care use and health and functional impact of
developmental disabilities among US children, 1997
2005. Archives of Pediatrics & Adolescent Medicine,
163(1), 1926.
Casey, P. H., Lyle, R. E., Bird, T. M., Robbins, J. M., Kuo,
D. Z., Brown, C., Lai, A., Tanios, A., & Burns, K.
(2011). Effect of hospital-based comprehensive care
clinic on health costs for Medicaid-insured medically
complex children. Archives of Pediatrics & Adolescent, 165(5), 392398.
Chen, A. Y., & Newacheck, P. W. (2006). Insurance coverage and financial burden for families of children with
special health care needs. Academy of Pediatrics, 6(4),
204209.
Cohen, J. (1988). Statistical power analysis for the social
sciences. Upper Saddle River: Lawrence Erlbaum
Associates.
Crocker, L., & Algina, J. (1986). Introduction to classical & modern test theory. Fort Worth: Harcourt Brace
Jovanovich.
Feuer, M. J., Towne, L., & Shavelson, R. J. (2002). Scientific culture and educational research. Educational
Researcher, 31(8), 414.
Fields, M. J., & Jette, A. M. (Eds.). (2007). Future of disability in America. Washington: National Academies
Press.
Frontera, W. R. (2006). Research and the survival of physical medicine and rehabilitation. American Journal of
Physical Medicine & Rehabilitation, 85(12), 939944.
Gannotti, M. E., Kaplan, L. C., Handwerker, W. P., &
Groce, N. E. (2004). Cultural influences on health
care use: Differences in perceived unmet needs and
expectations of providers by Latino and Euro-American parents of children with special health care needs.
Journal of Developmental and Behavioral Pediatrics,
25(3), 156165.
382
Gay, L. R. (1992). Educational research: Competencies
for analysis and application (4th ed.). New York:
Merrill.
Gouvier, W. D., & Coon, R. C. (2002). Misconceptions,
discrimination, and disabling language: Synthesis and
review. Applied Neuropsychology, 9(1), 4857.
HHS. (2009). Healthy people 2020 draft objectives.
Washington: U.S. Department of Health and Human
Services.
Hollar, D. W. (2005). Risk behaviors for varying categories of disability in NELS:88. Journal of School
Health, 75(9), 350358.
Hollar, D. W. (2009). Progress along developmental
tracks for electronic health records implementation
in the United States. Health Research Policy and Systems, 7, 3.
ICDR. (2007). The Interagency Committee on Disability
Research 20042006 report to the President and Congress. Washington: U.S. Department of Education.
Lissitz, R. W., & Samuelsen, K. (2007). A suggested
change in terminology and emphasis regarding validity and education. Educational Researcher, 36(8),
437448.
Lotstein, D. S., Inkelas, M., Hays, R. D., Halfon, N., &
Brook, R. (2008). Access to care for youth with special health care needs in transition to adulthood. Journal of Adolescent Health, 43, 2329.
Lozano, P., Finkelstein, J. A., Carey, V. J., Wagner, E. H.,
Inui, T. S., Fuhlbrigge, A. L., Soumerai, S. B., Sullivan, S. D., Weiss, S. T., & Weiss, K. B. (2004). A
multisite randomized clinical trial of the effects of
physician education and organizational change in
chronic-asthma care. Archives of Pediatrics & Adolescent Medicine, 158, 875883.
May, V. M., & Ferri, B. A. (2005). Fixated on ability:
questioning ableist metaphors in feminist theories of
resistance. Prose Studies, 27(1,2), 120140.

Messick, S. (1988). Validity. In R. L. Linn (Eds.), Educational measurement (3rd ed. pp.13103). New York:
American Council on Education and Macmillan Publishing Company.
Nageswaran, S. (2009). Respite care for children with
special health care needs. Archives of Pediatrics &
Adolescent Medicine, 163(1), 4954.
National Research Council. (2002). Scientific research
in education. In: R. J. Shavelson & L. Towne (Eds.),
Committee on scientific principles for educational
research. Washington: National Academies Press.
Newacheck, P. W., & Kim, S. E. (2005). A national profile
of health care utilization and expenditures for children
with special health care needs. Archives of Pediatrics
& Adolescent Medicine, 159, 1017.
Popper, K. (1935, 2002). The logic of scientific discovery.
London: Routledge.
Reiss, J. G., Gibson, R. W., & Walker, L. R. (2005).
Health care transition: Youth, family, and provider
perspective. Pediatrics, 115, 112120.
Rothman, K. J., & Greenland, S. (1998). Modern epidemiology (2nd ed.). Philadelphia: Lippincott-Raven.
Shavelson, R. J., & Berliner, D. C. (1988). Erosion of
the educational research infrastructure. Educational
Researcher, 17(1), 912.
Singer, J. D., & Willett, J. B. (2003). Applied longitudinal
data analysis. New York: Oxford University Press.
Strickland, B., McPherson, M., Weismann, G., van Dyck,
P., Huang, Z. J., & Newacheck, P. (2004). Access to
the medical home: Results of the National Survey of
Children with Special Health Care Needs. Pediatrics,
113(5), 14851492.
Swets, J. A., Dawes, R. M., & Monahan, J. (2000). Better decisions through science. Scientific American,
283(4), 7075.
Addressing Bullying Among

Students with Disabilities
Within a Multi-Tier Educational
Environment
20
Chad A. Rose, Stephen Allison, and Cynthia G. Simpson
Abstract
One of the most pervasive, yet neglected, problems impeding the socialemotional development of school-aged children is bully perpetration and
victimization. Bullying has been linked to detrimental long- and shortterm outcomes, ranging from academic deficits and school avoidance to
difficulties with depression, anxiety, psychosomatic symptoms, and social
relationships for victims. In this chapter, we outline the social and health
dynamics impacting children with special health care needs (CSHCN)
who experience bullying as well as effective interventions that develop
support mechanisms for CSHCN with the involvement of teachers, peers,
and parents. It is unclear exactly how to best involve parents of children
with disabilities in effective tertiary interventions. Antibullying programs
for families are at an early stage of development and multicomponent family interventions deserve further attention.
Abbreviations
CSHCN Children with Special Health Care Needs

IDEIA Individuals with Disabilities Education Improvement Act of
2004
C. A. Rose ()
Department of Language, Literacy and Special
Populations, Sam Houston State University,
Box 2119, Huntsville, TX 77341, USA
e-mail: rose57@shsu.edu
S. Allison
Flinders University Medical Centre, Southern Adelaide
Health Service, GPO Box 2100, Adelaide, SA 5001,
Australia
e-mail: Steve.Allison@health.sa.gov.au;
stephen.allison@flinders.edu.au
C. G. Simpson
Department of Language, Literacy and Special
Populations, Sam Houston State University, Box 2119,
Huntsville, TX 77341, USA
e-mail: lls_cxs@shsu.edu
383
384
NCLB No Child Left Behind

PBS Positive Behavior Supports
RtI Response to Intervention
20.1Introduction
While the educational landscape continues to
evolve in order to meet the diverse learning needs
of an ever-changing student body, high-stakes academic testing is still used as the central measure
of student achievement and school success. For
example, in the United States, federal legislation
places a strong emphasis on teacher accountability (No Child Left Behind Act NCLB 2001),
where teacher efficacy is primarily gauged by
student performance on standardized assessments (Fleming et al. 2005; Rose et al. 2009).
In terms of measurable outcomes, the current
discourse tends to emphasize academic attainment over social-emotional learning (Gregory
etal. 2010). However, educational outcomes and
social-emotional development are fundamentally linked (DeRosier and Mercer 2009), thereby
necessitating increased attention to multifaceted
pedagogical approaches (Adelman and Taylor
2000; Zins etal. 2004).
20.2Bully Perpetration
and Victimization
One of the most pervasive, yet neglected, problems impeding the social-emotional development
of school-aged children is bully perpetration and
victimization (Swearer etal. 2010). When bullying is investigated holistically, and consideration
is given the active participants (i.e., bully, victim)
and passive stakeholders, who serve as social reinforcers (e.g., bystanders), research suggests
that bullying encompasses the overwhelming
majority of the school population (Espelage etal.
2000). Unfortunately, direct involvement within
the bullying dynamic has been linked to detrimental long- and short-term outcomes, ranging
from academic deficits and school avoidance to
difficulties with depression, anxiety, psychoso-
C. A. Rose et al.
matic symptoms and social relationships for victims, and externalizing behaviors problems for
perpetrators (see Swearer etal. 2010). Adults who
were bullied at school continue to report poorer
mental and physical health (Allison etal. 2009).
In addition, bullying has received high-profile
attention because involvement has been linked
to suicidal ideation (Herba etal. 2008; KaltialaHeino et al. 1999; Kim et al. 2005, Rigby and
Slee 1999; Roeger et al. 2010) and school violence (Vossekuil etal. 2002). Given the potential
severity and enduring nature of these outcomes,
it is essential to understand the complexities associated with the bullying dynamic.
20.3Theoretical Framework
Bullying/victimization does not occur in isolation and, in fact, results as a complex interaction
between the individual and his or her family, peer
group, school community, and societal norms
(Swearer et al. 2009, pp. 78). In an effort to
understand specific situations involved in the
bullying dynamic, one must realize that the relationship between the bully and the victim is not
dichotomous. Several external and internal factors contribute to the overall dynamic. Espelage
and Swearer (2004) and Swearer etal. (2006) examined the basic framework of Bronfenbrenners
(1977, 1979, 1986) Social-Ecological Model of
Child Development and extended the model to
include predictive factors associated with bully
perpetration and victimization. Within the original foundational framework, Bronfenbrenners
(1977, 1979, 1986) Social-Ecological Model of
Child Development included five distinct domains: Microsystems, Mesosystems, Exosystems, Macrosystems, and Chronosystems (see
Table 20.1; Bronfenbrenner 1977, 1979, 1986).
Espelage and Swearers (2004) extension of the
model, the Social-Ecological Framework for
Bullying/Victimization, incorporates five social-ecological domains (i.e., individual factors,
familial factors, school and peer group factors,
community factors, societal factors) that coincide with Bronfenbrenners model as identified
in Table20.2.
20 Addressing Bullying Among Students with Disabilities Within a Multi-Tier Educational Environment
385
Table 20.1 Bronfenbrenners social-ecological model of child development. (Adapted from Rose 2010b, p.17)
System
Microsystema
Definition
A microsystem is the complex of relations between the developing person and environment
in an immediate setting containing that person
Mesosystema
A mesosystem comprises the interrelations among major settings containing the developing
person at a particular point in his or her life
Exosystema
An exosystem is an extension of the mesosystem embracing other specific social structures,
both formal and informal, that do not themselves contain the developing person but impinge
upon or encompass the immediate settings in which that person is found, and thereby
influence, delimit, or even determine what goes on there
Macrosystema
A macrosystem refers to the overarching institutional patterns of the culture or subculture,
such as the economic, social, educational, legal, and political systems, of which micro-,
meso-, and exo-systems are the concrete manifestations
Chronosystemb
A chronosystem refers to the influence on the individuals development of changes over
time in the environment in which the person is living
a Refers to excerpts from pp.514515 of Bronfenbrenners 1977 article
b Refers to excerpts from p.724 of Bronfenbrenners 1986 article
Table 20.2 Espelage and Swearers social-ecological
framework for bullying/victimization (2004) factors
defined
Social-ecological Definition
factors
Individual factors Intrapersonal factors such
as depression, anxiety, and
impulsivity
Family factors
Interpersonal relationships
between the individual and his/
her immediate family members
Peer group and
School climate and interpersonal
school factors
relationships between the individual and his/her peers, teachers,
and other school personnel
Community
Community resources, neighborfactors
hood influences, and schoolcommunity partnerships
Societal factors
Global influences such as media
and popular culture
Theoretically, an infinite number of variables can influence the interactions between the
individual and each subsequent factor grouping within the Social-Ecological Framework for
Bullying/Victimization (see Fig. 20.1; Espelage and Swearer 2004; in Rose 2010b, p. 18).
Based on the Social-Ecological Framework for
Bullying/Victimization, it is clear that students
maintain experiential differences associated
with individual characteristics, family attributes,
educational dexterity, peer group membership,
and community/society influences. While it has
been suggested that the overwhelming majority
of the school-aged population is involved in the

bullying dynamic (Espelage etal. 2000) and the
negative outcomes maintain short- and long-term
consequences (Swearer etal. 2010), it is conceivable that some subpopulations are more at risk
for involvement based on discrepancies in the
social-ecological model (Rose 2010a). For example, students with disabilities receive added academic or functional supports in the educational
environment, which by definition separates them
from their typically developing peers (Rose etal.
2011).
20.4Bullying Among Students

with Disabilities
As stated previously, bullying is a social construct that is based on complex interactions between the individual and social-ecological factors (Swearer etal. 2009). However, theoreticians
and researchers have attempted to operationalize
the definition of bullying and the roles associated
with student involvement. While bullying definitions vary considerably as a consequence of
empirical examination (Miller etal. 1998), most
definitions directly or indirectly refer to Olweus
(1993, 1995) conceptualization of the phenomenon. Based on Olweus definition, bullying is
defined as repeated aggression with an imbalance
of power and intent to cause harm, which maintains unequal levels of affect between the bully
386
C. A. Rose et al.
Fig. 20.1 Espelage and

Swearers (2004) socialecological framework for
bullying/victimization.
(Adapted from Rose 2010b,
p.18)
and victim (Olweus 1993, 1995; see Rose etal.

2011). Specifically, three key aspects of bullying are the imbalance of power, intentionality of
the acts, and the repetition over time (Orpinas
and Horne 2006). However, Olweus (2003) and
Ross (2003) agree that a single incident can be
construed as bullying. While there is disparity
among definitions, the characteristics outlined by
Olweus demonstrate the social nature of the bullying phenomenon.
In addition to the operationalization of bullying, consideration must be given to the continuum of roles associated with participation and
reinforcement. While the act of bullying must
include the perpetrator(s) and victim(s), characteristics associated with these individuals may
vary. According to Olweus (1993), perpetrators
may be characterized as aggressive bullies, passive bullies (plays a supporting role), or anxious
bully (adopts bullying behaviors to combat victimization). Similarly, victims may be classified
as passive victims or bully-victims, where the
passive victim does not aggress or act out toward
the perpetrator, and the bully-victim adopts bullying characteristics to avoid further victimization (similar to the anxious bully; Olweus 1993,
2003). Bystanders, however, reinforce this dynamic between the bully and victim, who may
serve as supporters of the bully or defenders of
the victim (Olweus 2003; Salmivalli etal. 1996).
Interestingly, Swearer etal. (2009) suggested that
these roles are not static, and students may move
in and out of participatory roles, especially during times of transition.
20.5General Pervasiveness
of Bullying
The phenomenon of bullying has been the subject of empirical exploration for decades, and the
pervasiveness of the phenomenon has been documented worldwide. In the United States, a sharp
increase in bullying research resulted from the
outcomes of the Safe School Initiative (Swearer
et al. 2009; Vossekuil et al. 2002). This collaboration between the US Secret Service and the
Department of Education was prompted by the
untimely deaths of 15 individuals at Columbine
High School in Jefferson County, Colorado. The
goal of this initiative was to examine the planning and preattack thoughts and behaviors of US
school shooters, to develop a concrete perpetrator
profile. While a clear profile was not established,
it was determined that 71% of the school shooters from 1974 to 2000 experienced some level
of peer victimization (Rose etal. 2011; Vossekuil
etal. 2002).
Following the initial results of the Safe School
Initiative, Nansel etal. (2001) conducted an investigation that was representative of the US
school-aged population, and determined that approximately 30% of school-aged youth are involved in the bullying dynamic as perpetrators,
victims, or bully-victims. Recent reports from
the National Center for Educational Statistics determined that 32% of students aged 1218 years
experienced some level of victimization at school
during the 20072008 academic year (Robers
etal. 2010). While current research suggests that
approximately one-third of the student population is directly involved in the bullying dynamic,
a growing body literature is beginning to explore
characteristic difference (e.g., gender, ethnicity)
among the various bullying participant roles. In
addition, research also suggests that children
with disabilities are at least twice as likely to be
bullied than their non-disabled peers (Marini
etal. 2001, p.175) and the effects of bullying
may linger long into the victims adulthood (San
Antonio and Salzfass 2007, p.32).
Within the last 10 years, a vast amount of
research has been conducted examining the relationship between gender and bullying with
gender dichotomy influencing the perceptions
of aggression and bullying (Espelage etal. 2004;
Swearer 2008). In much of the literature, males
are identified as the disproportionate population of bullies and victims (Nansel et al. 2001;
Olweus 1993; Ostrov and Keating 2004; Seals
and Young 2003). This particular evidence of
disproportionality between males and females
led several researchers to make a distinction in
specific types of bullying (direct and indirect aggression). Direct bullying refers to the physical
and verbal acts such as, hitting, kicking, poking,
pushing, teasing, name calling, or taunting. Indirect bullying appears in ways such as, spreading rumors, manipulating friendships, or causing
social exclusion. Interestingly, Card etal. (2008)
reported that males are more directly aggressive,
but relational aggressing was equally proportionate among males and females.
In addition to gender, racial subgroups have
become an immediate focus in the bullying literature, especially the discrepancies in involvement
among subgroups such as African Americans and
European Americans. The findings of such studies revealed that African Americans were less
likely to be victimized than European Americans
(Nansel et al. 2001) In addition to comparisons
of racial subgroups to determine higher levels of
victims, Wang etal. (2009) reported that AfricanAmerican adolescents were more likely to be perpetrators, and less likely to be victimized when
compared with other racial groups. Discrepancies in academic outcomes (Booker 2006; Wong
et al. 2003), exposure to racial discrimination
387
(Prelow etal. 2004; Seaton 2009), and questionable peer associations (Holt and Espelage 2007)
may partially account for the documented group
discrepancies (Rose 2010b).
20.6Pervasiveness of Bullying
Among Students
with Disabilities
While gender and ethnicity have become common considerations in the bullying dynamic,
the interplay between special education status
and involvement in bullying has been sparsely
investigated. Conceivably, this lack of attention
may be due to the continuum of special education services provided to students who qualify for
these academic, functional, or medical accommodations. When investigating the involvement
of students with disabilities, the complexities are
threefold. First, consideration must be given to
disability label, and precautions must be taken to
avoid creating a dichotomy (i.e., presence or absence of a disability) or creating arbitrary groupings (e.g., observable and unobservable disabilities). Second, consideration must be given to
class placement and level of special education
services, because these services are fundamentally different from students without disabilities.
Finally, consideration must be given to the intersection of services and disability labels, because
this intersection is the primary identifier of protective factors for students with various disabilities (Rose 2010a).
20.6.1Disability Labels
When disability status is considered a dichotomy,
evidence suggests that students with disabilities
are victims (Kaukiainen et al. 2002; Monchy
etal. 2004; Nabuzoka and Smith 1993) and perpetrators (Dawkins 1996; Kumpulainen et al.
2001; Rose etal. 2009; Woods and Wolke 2004)
twice as often as their peers without disabilities.
In addition, early foundational research from
Dawkins (1996) suggested that students with observable disabilities are victimized significantly
388
more than students with unobservable disabilities. However, these dichotomous distinctions
may misrepresent the subpopulation of students
with disabilities because disability status falls
upon a continuum, and the global characterization of disability actually refers to 13 different
categories with distinctive identification procedures, characteristics, and service needs (Rose
2010a; Smith 2007). While few studies have
explored the intersection of disability labels and
participation in the bullying dynamic, the existing evidences suggest that some disability categories may be overrepresented as bullies, while
others may be overrepresented as victims.
Although avoiding arbitrary groupings of students with disabilities is critical to understanding
the complexities of bullying among this marginalized student population, foundational research
has suggested that the observability or severity
of the disability may predict levels of involvement (Dawkins 1996; Whitney etal. 1994). For
example, students with physical disabilities,
hearing impairments, and language impairments
are two to four times as likely to be victimized
when compared with their peers without disabilities (Davis etal. 2002; Knox and Conti-Ramsden
2003; Sweeting and West 2001; Whitney et al.
1994), and as many as 90% of students with autism have reported some level of victimization
(Little 2002). However, students identified with
high incidence disabilities (e.g., learning disabilities, emotional/behavioral disorder) engage in
significantly higher levels of perpetration when
compared with their peers without disabilities
(Kaukiainen etal. 2002; Monchy etal. 2004; Van
Cleave and Davis 2006; Whitney etal. 1994), and
students with more significant disabilities engage
in lower levels of perpetration when compared
with students with less significant disabilities and
their peer group without disabilities (Sheard etal.
2001). Based on existing literature, an inverse
relationship seems to exist among students with
disabilities, where students with more significant
disabilities experience higher levels of victimization and students with less significant disabilities engage in higher levels of perpetration when
compared with their same-aged peer group.
C. A. Rose et al.
20.6.2Educational Services
Similar to disability status, educational accommodations available for students with disabilities fall upon a service continuum (IDEIA
2004) as defined by the students least restrictive environment (Smith 2007). Environments
and accommodations available to students with
disabilities are generally discussed in terms of
access to the general curriculum, where students
may receive services in inclusive or segregated
settings (Rose 2010a). While these services are
necessary for functional or academic success,
they serve as a fundamental difference between
students with and without disabilities because
the overt nature of the services or placements
may unnecessarily identify students deficits
and place them at greater risk for victimization.
Although existing literature has explored bullying in terms of inclusive and restrictive settings,
these classifications may be an oversimplification of placements available to students with disabilities (Rose 2010a).
With the general understanding that services
available to students with disabilities are based
on the students least restrictive environment, research suggests that an involvement discrepancy
exists between students in inclusive and restrictive settings. For example, students who receive
high levels of academic support or receive educational services in a more restrictive environment
report significantly higher rates of victimization (Martlew and Hodson 1991; Morrison etal.
1994; OMoore and Hillery 1989; Sabornie 1994;
Whitney etal. 1994) and engage in higher levels
of perpetration (OMoore and Hillery 1989; Rose
etal. 2011) when compared with their peers who
receive services in an inclusive environment and
peers without disabilities. Unfortunately, dearth
of literature associated with the intersection of
services and bullying involvement makes it difficult to ascertain whether class placement or severity of the disability serves as a predictor for
increased victimization and perpetration (Rose
2010a).
20.6.3Intersection Between Disability

Label and Educational Services
While it has been documented that disability
labels and educational services can serve as independent predictors of involvement in the bullying dynamic for students with disabilities,
the intersection between these factors has been
sparsely investigated. The overarching concern
is fundamentally linked to the social-ecological
framework, where bully involvement is based
on complex interactions between individual
characteristics and external social influences,
such as class placement (Swearer et al. 2009).
It is conceivable that a reciprocal relationship
exists between disability status and class placement, where both factors serve as equal predictors (Rose 2010a). However, research suggests
that students with more significant disabilities
(Davis et al. 2002; Dawkins 1996; Knox and
Conti-Ramsden 2003; Little 2002; Sweeting and
West 2001; Whitney etal. 1994), and students in
more restrictive settings (Martlew and Hodson
1991; Morrison et al. 1994; OMoore and Hillery 1989; Sabornie 1994; Whitney etal. 1994)
report higher levels of involvement when compared with their peers without disabilities. The
complexities arise when consideration is given
to both factors, because students with more
significant disabilities often receive services in
more restrictive environments.
Although this issue is quite complex, the social-ecological framework suggests that consideration is given to both individual characteristics
and influential social-ecological factors (Swearer etal. 2009). Based on previous research, it is
evident that students with disabilities may possess at-risk characteristics that increase their
likelihood of involvement, and the educational
environment may serve as a predictive or protective factor. Therefore, bully prevention efforts
for students with disabilities should have multiple components that attend to the school environment and include targeted interventions that
address the at-risk subpopulations of students,
classroom variables, and individual student
characteristics.
389
20.7Multicomponent Bully
Prevention Programs for
Students with Disabilities
Current educational trends are placing a strong
emphasis on multicomponent programs such
as Response to Intervention (RtI; Batsche et al.
2005; Sugai and Horner 2009) and Positive Behavior Supports (PBS; Bambara and Kern 2005;
Ross and Horner 2009; Sugai and Horner 2009).
While these initiatives stem from the field of
special education, they are designed to address
the academic and behavioral outcomes of the entire student population (Sugai and Horner 2009).
Commonly, RtI and PBS situates intervention
efforts within a three-tier framework, where the
primary tier serves as the school-wide intervention program and address 8085% of the student
population, the secondary tier addresses at-risk
subpopulations of students and serves 1015% of
the student population, and the tertiary tier addresses the 15% of students who do not respond
to primary or secondary interventions through
individualized intervention efforts (Bambara
and Kern 2005; Batsche etal. 2005). While the
tiered structure is fundamental to the continuum
of services provided within the multicomponent
framework, intervention efforts are grounded in
scientifically based research, utilize data-based
decision making to maintain the fluidity between
the tiers, and employ systematic screening on
a regular basis for evaluating performance and
outcomes (Fuchs 2003; Sugai and Horner 2009).
In addition, these multicomponent intervention
efforts parallel the social-ecological framework
because they directly address school-wide, classroom, nonclassroom, family, and individual student factors (Sugai and Horner 2009).
Given the structure of these multicomponent
programs, it is conceivable to believe that bully
prevention efforts could be situated within a
similar framework (see Fig.20.2). More specifically, whole-school intervention programs would
be situated within the primary tier, strategies for
addressing at-risk subpopulations would be situated within the secondary tier, and individualized interventions for chronic bullies and victims
would be situated within the tertiary tier. Since it
390
C. A. Rose et al.
Fig. 20.2 Intervention

samples embedded in a
multicomponent model
has been documented that students with disabilities are at a higher risk for increased involvement
within the bullying dynamic, a multicomponent
bully prevention program could serve as an effective strategy for reducing bullying among this
at-risk subpopulation of students. However, it
should be noted that the existence of a multicomponent behavioral or academic structure does
not necessarily address the prevalence of bullying among the school-aged population because
consideration must be given both to the victim
and perpetrator (Rose and Monda-Amaya 2011).
In addition, it is important to note that effective
intervention programs involve multidisciplinary
support. Administrators can provide support in
areas such as policy development, enforcement,
and level of support and commitment needed to
ensure the success of the intervention (GarciaBiggs etal. 2010). Such support can include the
implementation of a zero tolerance policy for
bullying within school limits and support through
classroom visits and private meetings as needed
(Garcia-Biggs etal. 2009, p.41).
20.8Primary Prevention Efforts

Bully prevention programs at the primary level
are designed to increase awareness and decrease
the prevalence of bullying among the entire stu-
dent population (Swearer et al. 2009; Swearer

et al. 2010). Initially, a school climate assessment should be conducted and school-specific
data should be collected to discern the existing
level of bullying within the school environment
(Swearer etal. 2009). Intervention efforts should
include increased monitoring in high-risk areas,
classroom awareness activities to confront supportive attitudes, teacher awareness and intervention training, and allowing students to be active
stakeholder in intervention efforts (Rose and
Monda-Amaya 2011; Swearer etal. 2009).
However, the success of these programs is contingent on many factors, including rapport development efficiency of the teacher, identification
competence, and pedagogical dexterity (Konishi
etal. 2010; Swearer etal. 2009; Ttofi etal. 2008).
When examining commercial bullying prevention programs, a discrepancy exists between
their effectiveness. For example, when data were
collected on teachers who participated in Bully
Busters, a commercial bully prevention program,
results suggested that the teachers beliefs in their
competence in preventing bullying, intervening
with the bully, assisting the victim, and increasing student awareness were changed (NewmanCarlson and Horne 2004). Unfortunately, many
school-wide prevention efforts have produced
less than desirable results (Swearer etal. 2010).
In a recent meta-analytic report to the Swedish
National Council for Crime Prevention, Ttofi

etal. (2008) reported that bullying and victimization were reduced by 1723% when anti-bullying
programs were implemented in schools. This reduction is associated with programs that include
structured school environments and collaborative
teacher, students, and parent relationships (Ttofi
etal. 2008). Merrell etal. (2008) found that about
one-third of anti-bullying programs produced
clinically positive effects, and believed these interventions increased awareness, knowledge, and
self-perceived competency in dealing with bullying. (Rose 2010b, p.135).
20.9Secondary-Tier Interventions
While primary-tier interventions are designed
to address the entire student body, secondarytier interventions are designed to address at-risk
subpopulations of students. These interventions
are grounded in a teachers ability to identify
participants within the bullying dynamic. Unfortunately, current research suggests that teachers
are often inefficient at identifying bullies and victims (Huesmann etal. 1994; Leff etal. 1999), and
underestimate the prevalence of bullying within
their classrooms (Bradshaw et al. 2007) when
compared with student nominations. Therefore,
teachers must improve their efficacy in identifying active and passive participants within the bullying dynamic.
Although teacher support is essential for the
behavioral and functional success of their students, classroom structure can serve as a secondary-tier intervention for students with disabilities. In general, creating and maintaining a
structured classroom with clear rules and expectations may serve as a preventative measure for
decreased bullying and victimization (Sugai and
Horner 2002). For example, systematic inclusive
practices can serve as a protective factor against
perpetration by and victimization of students
with disabilities. Effective inclusive practices,
where students are fully integrated into peer
groups, allow students with disabilities to learn,
practice, and validate social skills among their
same-age peer group (Mishna 2003) through
391
consciously structured learning groups. In addition, inclusive settings may serve as a protective
factor through the utilization of positive behavior modeling, increased social skills acquisition
(Brown et al. 1989), increased self-confidence
through active participation (Sabornie 1994),
and a reduction of negative stereotypes from students without disabilities (Martlew and Hodson
1991). Overall, conscious structuring of the educational environment that recognizes the diverse
needs of students may serve to increase awareness and acceptance among students without
disabilities, foster a sense of belonging among
students with disabilities, and allow students to
be active stakeholders in bully prevention efforts
(Meadan and Monda-Amaya 2008; Rose and
Monda-Amaya 2011).
Since bullying is a social construct, the development of social skills is essential for students with disabilities. As a secondary-tier intervention, teachers should consider embedding
social skills training within their daily curriculum. Fundamentally, lessons and peer groupings should be universally designed to proactively address potential problems within the
educational environment (Dymond et al. 2006;
Spooner etal. 2007). In addition, teachers must
frequently assess the group dynamics within
their classroom and construct social groupings
that are not subject to escalated isolation of individual students and increase the likelihood
of positive behavioral modeling (Meadan and
Monda-Amaya 2008). Social skills can also be
fostered through evidence-based practices such
as differentiated instruction, where students
are provided with choices (Hall et al. 2003) to
decrease the peer perception of teacher dependence. Overall, research suggests that resiliency among students with disabilities may be
attributed to age-appropriate social skills, positive self-concept, independence, quality social
relationships, and active school participation
(Flynt and Morton 2004; Kumpulainen et al.
1998; Martlew and Hodson 1991; Mishna 2003;
Whitney etal. 1994), which can be fostered by
secondary-tier interventions.
392
20.10Tertiary-Tier Interventions
Due to the complexity of the bullying dynamic,
structured classrooms and quality whole-school
interventions may not completely eliminate involvement among students with disabilities
(Rose and Monda-Amaya 2011). As a function
of the disability characteristics, students who
receive special education services may require
targeted interventions to address their overrepresentation within the bullying dynamic. Unfortunately, students with disabilities often lack
age-appropriate social skills (Baker and Donelly
2001; Doren etal. 1996; Kaukiainen etal. 2002;
Llewellyn 2000; Woods and Wolke 2004), which
may prevent the assimilation into social groups,
increase perceptions of dependence, and increase
the likelihood of involvement within the bullying
dynamic (Baker and Donelly 2001; Llewellyn
2000; Martlew and Hodson 1991; Morrison etal.
1994; Nabuzoka and Smith 1993).
Given this lack of social skills, targeted interventions must directly shape existing social
behaviors or teach new skills that are age-appropriate and socially acceptable. Unfortunately, social skills represent a broad range of behaviors
and a functional assessment may be necessary
to determine current levels of social functioning (Rose and Monda-Amaya 2011). Students
with disabilities who are chronic victims may
reinforce repeated perpetration because they appear passive or timid when confronted with a
bullying situation (Sabornie 1994). Teachers of
students who exhibit these timid responses must
help their students develop a sense of independence and foster self-determination, where they
embrace their personal abilities and are aware
of their fundamental values (Wehmeyer et al.
2004). Chronic victims with disabilities may
also have social information processing deficits (Crick and Dodge 1994, 1996; Dodge etal.
2003) where they misread or misinterpret situations that may not constitute bullying (Sabornie
1994), or they consistently fail to avoid situations
that place them at risk for increased victimization
(Nabuzoka 2003). Direct social skills instruction
through role play, problem-solving vignettes,
conflict-resolution strategies, and effective peer
C. A. Rose et al.
group communication techniques may support

the development of age-appropriate social skills
(Meadan and Monda-Amaya 2008).
This general lack of social skills may account for the overrepresentation of students with
disabilities identified as chronic perpetrators.
Similar to victims, chronic perpetrators with
disabilities may possess social information processing deficits (Crick and Dodge 1994, 1996;
Dodge etal. 2003), where they misinterpret social communication by responding aggressively
to nonthreatening stimuli (Nabuzoka and Smith
1999; Sabornie 1994). However, behavior is both
functional and communicative, and bullying behaviors among students with disabilities are often
learned behaviors that are adopted as a method
of avoiding prolonged exposure to victimization
(Rose et al. 2011). Therefore, the functionality
of these behaviors should be assessed through a
functional behavior assessment that directly evaluates the establishing operations, discriminative
stimuli, behavioral responses, and reinforcing
stimuli (Bambara and Kern 2005; Cooper et al.
2007). By understanding the functionality of the
bullying behaviors, teachers can create an intervention package that neutralizes the establishing
operation, eradicates the antecedent, and increases social skills through replacement or competing behaviors while systematically reinforcing
the socially appropriate behaviors (Bambara and
Kern 2005; Cooper etal. 2007; Rose and MondaAmaya 2011).
It is unclear exactly how to best involve parents of children with disabilities in effective tertiary interventions. Antibullying programs for
families are at an early stage of development and
multicomponent family interventions deserve
further attention (Powell and Ladd 2010). Parents
have a crucial role in protecting children from
aggressive behavior, promoting resilience, and
engaging as partners in school programs. They
are natural child advocates and educational authorities charge them with responsibility for responding to their childs victimization. The first
step is for parents to be aware of the potential
problem of school bullying and look for the unspoken signs that their child could be victimized.
Once the problem is identified, parents are able
to support their child emotionally and to notify

the school for the development of an antibullying plan. Early awareness places the parents in
a better position to take effective action. Regular teacherparent meetings have been shown to
augment the effectiveness of antibullying programs and decrease rates of peer victimization in
schools (Ttofi and Farrington 2011). Importantly,
positive family environments with supportive
family relationships and positive parenting are
known to buffer against the social-emotional impact of victimization (Bowes etal. 2010).
In making partnerships with parents, teachers
can be informed by the experiences and attitudes
that parents bring to potential antibullying interventions. Opinions about bullying begin to form
in childhood with the parents own early educational experiences. Parents with past histories of
school bullying are primed to recognize the difficulties and have twice the likelihood of reporting their child as victimized (Roeger etal. 2011).
However, they can have subsequent problems
helping their children deal with victimization
(Smith and Myron-Wilson 1998). Experiences
with childhood bullying are linked with unresolved distress in adulthood and social skill deficits for parents (Schfer etal. 2004). These parental issues can be accentuated when their children encounter school bullying and this reduces
the parents ability to encourage their childrens
peer relationships and assist them to find ways
to cope with harassment. This developmental
challenge can interact with the stress associated
with parenting children who have disabilities.
Families with a combination of intergenerational
bullying victimization and high parental distress
could benefit from family-based interventions.
20.11Summary
Over the past two decades, the prevalence of
bully perpetration and victimization has increased worldwide, emerging as one of the most
signification behavioral issues facing schoolaged youth (Olweus 2003; Rose etal. 2011; Espelage and Swearer 2004). While most research
has been conducted in a whole-school context,
393
marginalized student populations may be at a

higher risk for involvement within the bullying
dynamic. Specifically, students with disabilities
report higher levels of perpetration and victimization when compared with their peers without disabilities (see Rose etal. 2011). However, consideration must be given to disability characteristics
and labels, class placement and special education
services, and the intersection between disability labels and special education services. Since
students with disabilities are overrepresented as
bullies and victims, intervention efforts should
be multifaceted, and include a school-wide antibullying policy/program, group interventions for
at-risk subpopulations of students, and targeted
interventions for chronic bullies and victims.
Above all, bullying is an issue that directly affects the majority of school-aged children, and
teachers, administrators, parents, and students
must be active stakeholders in prevention efforts.
References
Adelman, H. S., & Taylor, L. (2000). Moving prevention
from the fringes into the fabric of school improvement. Journal of Educational and Psychological Consultation, 11, 736.
Allison, S., Roeger, L., & Reinfeld-Kirkman, N. (2009).
Does school bullying affect adult health? Population
survey of health-related quality of life and past victimization. The Australian and New Zealand Journal of
Baker, K., & Donelly, M. (2001). The social experiences
of children with disabilities and the influence of environment: A framework for intervention. Disability &
Society, 16, 7185.
Bambara, L. M. & Kern, L. (2005). Individualized supports for students with problem behaviors: Designing positive behavior plans. New York: The Guilford
Press.
Batsche, G., Elliott, J., Graden, J. L., Grimes, J., Kovaleski, J. F., Prasse, D., etal. (2005). Response to intervention: Policy considerations and implementation.
Alexandria: National Association of State Directors of
Special Education.
Booker, K. C. (2006). School belonging and the African
American adolescent: What do we know and where
should we go? High School Journal, 89(14), 17.
Bowes L., Maughan, B., Caspi, A., Moffitt, T.E., & Arseneault, L. (2010). Families promote emotional and
behavioural resilience to bullying: evidence of an
environmental effect Journal of child psychology and
psychiatry, and allied disciplines, 51, 809817
394
Bradshaw, C. P., Sawyer, A. L., & OBrennan, L. M.
(2007). Bullying and peer victimization at school: Perceptual differences between students and school staff.
School Psychology Review, 36, 361382.
Bronfenbrenner, U. (1977). Toward an experimental ecology of human development. The American Psychologist, 32, 513531.
Bronfenbrenner, U. (1979). Contexts of child rearing:
Problems and prospects. The American Psychologist,
34, 844850.
Bronfenbrenner, U. (1986). Ecology of the family as a
context for human development: Research perspectives. Developmental Psychology, 22, 723742.
Brown, L., Long, E., Udvari-Solner, A., Schwarz, P.,
VanDeventer, P., Ahlgren, C., Johnson, F., Gruenewald, L., & Jorgensen, J. (1989). Should students
with severe intellectual disabilities be based in regular
or in special education classrooms in home schools?
The Journal of the Association for Persons with Severe
Handicaps, 14, 813.
Card, N. A., Stucky, B. D., Sawalani, G. M., & Little, T.
D. (2008) Direct and indirect aggression during childhood and adolescence: A meta-analytic review of
gender differences, intercorrelations, and relations to
maladjustment. Child Development, 79, 11851229.
Cooper, J. O., Heron, T. E., & Heward, W. L. (2007).
Applied behavior analysis (2nd ed.). Upper Saddle
River: Pearson.
Crick, N. R., & Dodge, K. A. (1994). A review and reformulation of social information-processing mechanisms in childrens social adjustment. Psychological
Bulletin, 115, 74101.
Crick, N. R., & Dodge, K. A. (1996). Social informationprocessing mechanisms in reactive and proactive
aggression. Child Development, 67, 9931002.
Davis, S., Howell, P., & Cooke, F. (2002). Sociodynamic
relationships between children who stutter and their
non-stuttering classmates. Journal of Child Psychology and Psychiatry, 43, 939947.
Dawkins, J. L. (1996). Bullying, physical disability and
the paediatric patient. Developmental Medicine and
Child Neurology, 38, 603612.
DeRosier, M. E., & Mercer, S. H. (2009). Perceived
behavioral atypicality as a predictor of social rejection
and peer victimization: Implications for emotional
adjustment and academic achievement. Psychology in
the Schools, 46(4), 375387.
Dodge, K. A., Lansford, J. E., Burks, V. S., Bates, J. E.,
Pettit, G. S., Fontaine, R., & Price, J. M. (2003). Peer
rejection and social information-processing factors in
the development of aggressive behavior problems in
children. Child Development, 74, 374393.
Doren, B., Bullis, M., & Benz, M. R. (1996). Predictors
of victimization experiences of adolescents with disabilities in transition. Exceptional Children, 63, 718.
Dymond, S. K., Renzaglia, A., Rosenstein, A., Chun, E. J.,
Banks, R. A., Niswander, V., & Gilson, C. L. (2006).
Using a participatory action research approach to create a universally designed inclusive high school sci-
C. A. Rose et al.
ence course: A case study. Research and Practice for
Persons with Severe Disabilities, 31, 293308.
Espelage, D. L., & Swearer, S. M. (2004). Bullying in
American schools: A social-ecological perspective on
prevention and intervention. Mahwah: Erlbaum.
Espelage, D. L., Bosworth, K., & Simon, T. R. (2000).
Examining the social context of bullying behaviors in
early adolescence. Journal of Counseling & Development, 78, 326333.
Espelage, D. L., Mebane, S. E., & Swearer, S. M. (2004).
Gender differences in bullying: Moving beyond mean
level differences. In D. L. Espelage & S. M. Swearer
(Eds.), Bullying in American Schools: A social-ecological perspective on prevention and intervention,
Mahawah: Erlbaum.
Fleming, C. B., Haggerty, K. P., Catalano, R. F., Harachi, T. W., Mazza, J. J., & Gruman, D. H. (2005). Do
social and behavioral characteristics targeted by preventive interventions predict standardized test scores
and grades? Journal of School Health, 75, 342349.
Flynt, S. W., & Morton, R. C. (2004). Bullying and children with disabilities. Journal Instructional Psychology, 31, 330333.
Fuchs, L. S. (2003). Assessing intervention responsiveness: Conceptual and technical issues. Learning Disabilities Research & Practice, 18, 172186.
Garcia-Biggs, M. J., Simpson, C. G., & Gaus, M. D.
(2009). A case of bullying: Bringing together the disciplines (Practice Highlights). Children & Schools, 31,
3942.
Garcia-Biggs, M. J., Simpson, C. G., & Gaus, M. D.
(2010). Using a team approach to address bullying of
students with Aspergers syndrome in activity-based
settings. Children & Schools: Journal of National
Association of Social Workers, 32(3), 135142.
Gregory, A., Skiba, R. J., & Noguera, P. A. (2010). The
achievement gap and the discipline gap: Two sides of
the same coin? Educational Researcher, 39, 5968.
Hall, T., Strangman, N., & Meyer, A. (2003). Differentiated instruction and implications for UDL implementation. Wakefield: National Center on Accessing the
General Curriculum. http://aim.cast.org/learn/historyarchive/backgroundpapers/differentiated_instruction_udl. Accessed 25 April 2011.
Herba, C. M., Ferdinand, R. F., Stijnen, T., Veenstra, R.,
Oldehinkel, A. J., Ormel, J., & Verhulst, F. C. (2008).
Victimisation and suicide ideation in the TRIALS
study: Specific vulnerabilities of victims. Journal of
Child Psychology and Psychiatry, 49, 867876.
Holt, M. K. & Espelage, D. L. (2007). Perceived social
support among bullies, victims, and bully-victims.
Journal of Youth and Adolescence, 36, 984994.
Huesmann, L. R., Eron, L. D., Guerra, N. G., & Crawshaw, V. B. (1994). Measuring childrens aggression
with teachers predictions of peer nominations. Psychological Assessment, 6, 329336.
Individuals with Disabilities Education Improvement Act.
(2004) H.R. 1350, 108th Congress.
Kaukiainen, A., Salmivalli, C., Lagerspetz, K., Tamminen, M., Vauras, M., Mki, H., & Poskiparta, E.
(2002). Learning difficulties, social intelligence, and
self-concept: Connections to bully-victim problems.
Scandinavian Journal of Psychology, 43, 269278.
Kaltiala-Heino, R., Ripela, M., Marttunen, M., Rimpela,
A., & Rantanen, P. (1999). Bullying, depression, and
suicidal ideation in Finnish adolescents: School survey. British Journal of Medicine, 319, 348351.
Kim, Y. S., Koh, Y. J., & Leventhal, B. (2005). School
bullying and suicidal risk in Korean middle school students. Pediatrics, 115, 357363.
Knox, E., & Conti-Ramsden, G. (2003). Bullying risks of
11-year-old children with specific language impairment (SLI): Does school placement matter? International Journal of Language & Communication
Disorders, 38, 112.
Konishi, C., Hymel, S., Zumbo, B. D., & Li, Z. (2010). Do
school bullying and student-teacher relationships matter for academic achievement? A multilevel analysis.
Canadian Journal of School Psychology, 25, 1939.
Kumpulainen, K., Rsnen, E., & Puura, K. (2001). Psychiatric disorders and the use of mental health services among children involved in bullying. Aggressive
Behavior, 27, 102110.
Kumpulainen, K., Rsnen, E., Henttonen, I., Almqvist,
F., Kresanov, K., Linna, S.-L., Moilanen, I., Piha, J.,
Puura, K., & Tamminen, T. (1998). Bullying and psychiatric symptoms among elementary school-age children. Child Abuse & Neglect, 22, 705717.
Leff, S. S., Kupersmidt, J. B., Patterson, C. J., & Power, T.
J. (1999). Factors influencing teacher identification of
peer bullies and victims. School Psychology Review,
28, 505517.
Little, L. (2002). Middle-class mothers perceptions of
peer and sibling victimization among children with
Aspergers Syndrome and nonverbal learning disorders. Issues in Comprehensive Pediatric Nursing, 25,
4357.
Llewellyn, A. (2000). Perceptions of mainstreaming: A
systems approach. Developmental Medicine and Child
Marini, Z. A., Fairbairn, L., & Zuber, R. (2001). Peer
harassment in individuals with developmental disabilities: Towards the development of a multi-dimensional
bullying identification model. Developmental Disabilities Bulletin, 29, 170195.
Martlew, M., & Hodson, J. (1991). Children with mild
learning difficulties in an integrated and in a special
school: Comparisons of behaviour, teasing, and teachers attitudes. The British Journal of Educational Psychology, 61, 355372.
Meadan, H. & Monda-Amaya, L. (2008). Collaboration
to promote social competence for students with mild
disabilities in the general classroom: A structure for
providing social support. Intervention in School and
Clinic, 43, 158167.
Merrell, K. W., Gueldner, B. A., Ross, S. W., & Isava, D.
M. (2008). How effective are school bullying intervention programs? A meta-analysis of intervention
research. School Psychology Quarterly, 23, 2642.
395
Miller, T. W., Beane, A., & Kraus, R. F. (1998). Clinical

and cultural issues in diagnosing and treating child
victims of peer abuse. Child Psychiatry and Human
Mishna, F. (2003). Learning disabilities and bullying:
Double jeopardy. Journal of Learning Disabilities, 36,
336347.
Monchy, M. D., Pijl, S. J., & Zandberg, T. (2004). Discrepancies in judging social inclusion and bullying of
pupils with behaviour problems. European Journal of
Special Needs Education, 19, 317330.
Morrison, G. M., Furlong, M. J., & Smith, G. (1994). Factors associated with the experience of school violence
among general education, leadership class, opportunity class, and special day class pupils (electronic
version). Education & Treatment of Children, 17,
356369.
Nabuzoka, D. (2003). Teacher ratings and peer nominations of bullying and other behaviour of children with
and without learning difficulties. Educational Psychologist, 23, 307321.
Nabuzoka, D., & Smith, P. K. (1993). Sociometric status and social behaviour of children with and without
learning difficulties. Journal of Child Psychology and
Psychiatry, and Allied Disciplines, 34, 14351448.
Nabuzoka, D., & Smith, P. K. (1999). Distinguishing serious and playful fighting by children with learning disabilities and nondisabled children. Journal of Child
Psychology and Psychiatry, and Allied Disciplines,
40, 883890.
Nansel, T. R., Overpeck, M., Pilla, R. S., Ruan, W. J.,
Simons-Morton, B., & Scheidt, P. (2001). Bullying
behaviors among US youth: Prevalence and association with psychosocial adjustment. Journal of American Medical Association, 285, 20942100.
Newman-Carlson, D., & Horne, A. M. (2004). Bully busters: A psychoeducational intervention for reducing
bullying behavior in middle school students. Journal
of Counseling Development, 82, 259267.
No Child Left Behind Act. (2001). 20 U.S.C, 70 Section
6301 et seq.
OMoore, A. M., & Hillery, B. (1989). Bullying in Dublin
schools. The Irish Journal of Psychology, 10, 426441.
Olweus, D. (1993). Bullying at school: What we know
and what we can do. Oxford: Blackwell.
Olweus, D. (1995). Bullying or peer abuse at school:
Facts and intervention. Current Directions in Psychological Science, 4, 196200.
Olweus, D. (2003). A profile of bullying at school. Educational Leadership, 60(6), 1217.
Orpinas, P., & Horne, A. M. (2006). Bullying prevention:
Creating a positive school climate and developing
social competence. Washington: American Psychological Association.
Ostrov, J. M. & Keating, C. F. (2004). Gender differences in preschool aggression during free play and
structured interactions: An observational study. Social
Powell, M. D. & Ladd, L. D. (2010). Bullying: A review
of the literature and implications for family thera-
396
pists. The American Journal of Family Therapy, 38,
189206.
Prelow, H. M., Danoff-Burg, S., Swenson, R. R., & Pulgiano, D. (2004). The impact of ecological risk and
perceived discrimination on the psychological adjustment of African American and European American youth. Journal of Community Psychology, 32,
375389.
Rigby, K., & Slee, P. (1999). Suicidal ideation among adolescent school children, involvement in bully-victim
problems, and perceived social support. Suicide &
Life-Threatening Behavior, 29, 119130.
Robers, S., Zhang, J., Truman, J., & Snyder, T. D. (2010).
Indicators of school crime and safety: 2010. Washington: Government Printing Office.
Roeger, L., Allison, S., Korossy-Horwood, R., Eckert, K.
A., & Goldney, R. D. (2010). Is a history of school
bullying associated with adult suicidal ideation? A
South Australian population-based observational
study. The Journal of Nervous and Mental Disease,
198, 728733.
Roeger, L., Allison, S., Smith, B., & Isherwood, L. (2011)
Does a parental history of peer victimization predict
childrens risk of being bullied at school? An intergenerational effect in a population study. Unpublished
Manuscript, Flinders University.
Rose, C. A. (2010a). Bullying among students with disabilities: Impact and implications. In D. L. Espelage
& S. M. Swearer (Eds.), Bullying in North American
schools: A socio-ecological perspective on prevention and intervention (2nd ed., pp.3444). Mahwah:
Erlbaum.
Rose, C. A. (2010b). Social-ecological factors related to
the involvement of students with learning disabilities
in the bullying dynamic (Doctoral dissertation, University of Illinois at Urbana-Champaign). Retrieved
from ProQuest Dissertations and Theses. (Accession
Order No. 3452200).
Rose, C. A., & Monda-Amaya, L. E. (2011). Bullying and
victimization among students with disabilities: Effective strategies for classroom teachers. Intervention in
School and Clinic. doi:10.1177/1053451211430119.
Rose, C. A., Espelage, D. L., & Monda-Amaya, L. E.
(2009). Bullying and victimization rates among students in general and special education: A comparative
analysis. Educational Psychologist, 29, 761776.
Rose, C. A., Monda-Amaya, L. E., & Espelage, D. L.
(2011). Bullying perpetration and victimization in
special education: A review of the literature. Remedial
and Special Education, 32, 114130.
Ross, D. M. (2003). Childhood bullying, teasing, and
violence: What school personnel, other professionals,
and parents can do (2nd ed.). Alexandria: American
Counseling Association.
Ross, S. W., & Horner, R. H. (2009). Bully prevention in
positive behavior support. Journal of Applied Behavior Analysis, 42, 747759.
Sabornie, E. J. (1994). Social-affective characteristics
in early adolescents identified as learning disabled
C. A. Rose et al.
and nondisabled. Learning Disability Quarterly, 17,
268279.
Salmivalli, C., Karhunen, J., & Lagerspetz, K. (1996).
How do the victims respond to bullying? Aggressive
Behavior, 22, 99109.
San Antonio, D., & Salzfass, E. (2007). How we treat one.
Educational Leadership, 64(8), 3238.
Schfer, M., Korn, S., Smith, P.K., Hunter, H.C., MoraMerchn J. A., Singer, M. M., & Van der Meulen, K.
(2004). Lonely in the crowd: recollections of bullying.
The British Journal of Development Psychology, 22,
379394.
Seals, D, & Young, J. (2003). Bullying and victimization:
Prevalence and relationship to gender, grade levels,
ethnicity, self-esteem, and depression. Adolescence,
38, 735747.
Seaton, E. K. (2009). Perceived racial discrimination and
racial identity profiles among African American adolescents. Cultural Diversity & Ethnic Minority Psychology, 15, 137144.
Sheard, C., Clegg, J., Standen, P., & Cromby, J. (2001).
Bullying and people with severe intellectual disability. Journal of Intellectual Disabilty Research, 45,
407415.
Smith, D. D. (2007). Introduction to special education:
Making a difference (6th ed.). Boston: Pearson.
Smith, P.K., & Myron-Wilson, R. (1998). Parenting and
school bullying. Clinical Child Psychology and Psychiatry, 3, 405417.
Spooner, F., Baker, J. N., Harris, A. A., Ahlgrim-Delzell,
L., & Browder, D. M. (2007). Effects of training in
universal design for learning on lesson plan development. Remedial and Special Education, 28, 108116.
Sugai, G., & Horner, R. H. (2002). Introduction to the
special series on positive behavior support in schools.
Journal of Emotionaland Behavioral Disorders, 10,
130135.
Sugai, G., & Horner, R. H. (2009). Responsiveness-tointervention and school-wide positive behavior supports: Integration of multi-tiered system approaches.
Exceptionality, 17, 223237.
Swearer, S. M. (2008). Relational aggression: Not just
a female issue. Journal of School Psychology, 46,
613616.
Swearer, S. M., Peugh, J., Espelage, D. L., Siebecker, A.
B., Kingsbury, W., & Bevins, K. S. (2006). A socioecological model for bullying prevention and intervention
in early adolescence: An exploratory examination. In
S. R. Jimerson & M. J. Furlong (Eds.), Handbook of
school violence and school safety: From research to
practice (pp.257273). Mahwah: Erlbaum.
Swearer, S. M., Espelage, D. L., & Napolitano, S. A.
(2009). Bullying prevention and intervention: Realistic strategies for schools. New York: Guilford Press.
Swearer, S. M., Espelage, D. L., Vaillancourt, T., &
Hymel, S. (2010). What can be done about school bullying?: Linking research to educational practice. Educational Researcher, 39, 3847.
Sweeting, H., & West, P. (2001). Being different: Correlates of the experience of teasing and bullying
at age 11 (electronic version). Research Papers in
Education, 16, 225246. http://eprints.gla.ac.uk/
archive/00002724/. Accessed 25 April 2011.
Ttofi, M. M., & Farrington, D. P. (2011) Effectiveness of
school-based programs to reduce bullying: a systematic and meta-analytic review. Journal of Experimental Criminology, 7, 2756.
Ttofi, M. M., Farrington, D. P., & Baldry, A. C. (2008).
Effectiveness of programmes to reduce school bullying. Swedish National Council for Crime Prevention. http://www.bra.se/extra/measurepoint/?module_
instance=4&name=Effe ctiveness_of_programmes_
to_reduce_school_bullying_webb.pdf&url=/dy
namaster/file_archive/081023/04395cbc57201c39fa
6c7f78319ea2ab/Effec tiveness%255fof%255fprog
rammes%255fto%255freduce%255fschool%255fb
ullying%255fwebb.pdf. Accessed 25 April 2011.
Van Cleave, J., & Davis, M. M. (2006). Bullying and peer
victimization among children with special health care
needs. Pediatrics, 118, 12121219.
Vossekuil, B., Fein, R. A., Reddy, M., Borum, R., & Modzeleski, W. (2002). The final report and findings of
the safe school initiative: Implications for the prevention of school attacks in the United States. Washington: United States Secret Service and United States
Department of Education.
397
Wang, J., Iannotti, R. J., & Tonja, R. (2009). School bullying among adolescents in the United States: Physical,
verbal, relational, and cyber. Journal of Adolescence
Health, 45, 368375.
Wehmeyer, M. L., Field, S., Doren, B., Jones, B., &
Mason, C. (2004). Self-determination and student
involvement in standards-based reform. Exceptional
Children, 70, 413425.
Whitney, I., Smith, P. K., & Thompson, D. (1994). Bullying and children with special educational needs. In P.
K. Smith & S. Sharp (Eds.), School bullying: Insights
and perspectives (pp.213240). London: Routledge.
Wong, C. A., Eccles, J. S., & Sameroff, A. (2003). The
influence of ethnic discrimination and ethnic identification on African American adolescents school and
socioemotional adjustment. Journal of Personality,
71, 11971232.
Woods, S., & Wolke, D. (2004). Direct and relational bullying among primary school children and academic
achievement. Journal of School Psychology, 42,
135155.
Zins, J. E., Bloodworth, M. R., Weissberg, R. P., & Walberg, H. J. (2004). The scientific base linking social
and emotional learning to school success. Journal
of Educational and Psychological Consultation, 17,
191210.
Building a Medical Home

for Children and Youth
21
Renee M. Turchi and Marie Y. Mann
Abstract
Delivering high-quality, patient-/family-centered, and efficient care is the

cornerstone of primary care. Packaging this care in the context of a medical home is the standard of health care delivery for children and adults.
Central to delivering care in the medical home is a team-based approach
to care. Early and continuous screening of children improves the health
and well-being of the child beginning from birth and throughout his or
her lifetime. Family-centered care is a central pillar to the medical home
concept. Family-centered care is distinguished by the recognition that the
family is the constant in a childs life, while the service systems and support personnel within those systems change. In addition, families attitudes
may reflect traditional family, ethnic, or cultural influences that approach
the concept of illness and chronic conditions in different ways. A highquality functioning medical home does not need to provide every service
alone, but does require effective partnerships across various settings and
the community via coordination across systems. Care coordination is also
a hallmark of the medical home in practice. Information sharing can improve coordination of care. The pediatric clinician plays an important role
in facilitating transition from pediatric-oriented to adult-oriented health
care. Planning for transition should be a standard part of providing care
R. M. Turchi ()
Department of Community Health and Prevention,
St. Christophers Hospital for Children under Drexel
University SPH, Bellet Building 11th Floor,
1505 Race Street, Philadelphia, PA 19102, USA
e-mail: Renee.Turchi@DrexelMed.edu
M. Y. Mann
Health Resources Services Administration, Maternal and
Child Health Bureau, 5600 Fishers Lane, Room 16-31,
Rockville, MD 20857, USA
e-mail: mmann@hrsa.gov
399
400
for all youth and young adults, not just youth

with special health care needs.
Abbreviations
AAP American Academy of Pediatrics

ACO Accountable Care Organization
CYSHCN Children and Youth with Special
Health Care Needs
EMR Electronic Medical Record
MCH Maternal and Child Health
NCQA National Committee for Quality
Assurance
NQF National Quality Forum
OBRA Omnibus Budget Reconciliation
Act
PCMH Patient-Centered Medical Home
PCPCC Patient-Centered Primary Care
Collaborative
PPC Physician Practice Connections
ROP Retinopathy of Prematurity
21.1Introduction
Delivering high-quality, patient-/family-centered, and efficient care is the cornerstone of
primary care. Packaging this care in the context
of a medical home is the standard of health care
delivery for children and adults. Central to delivering care in the medical home is a team-based
approach to care. Early and continuous screening
of children improves the health and well-being of
the child beginning from birth and throughout his
or her lifetime. Family-centered care is a central
pillar to the medical home concept. We illustrate
these concepts with a developmental case scenario that we examine to illustrate central medical
home concepts.
21.2The Case: Juan

Juan is a 12-week-old premature infant who is
going to the pediatrician for the first time following a 5-week admission to the Neonatal Intensive
Care Unit. Following a 28-week gestation, he was
born prematurely to a 22-year-old mother who
R. M. Turchi and M. Y. Mann
received prenatal care. His birth was complicated

by: hypoxia, requiring endotracheal intubation
for a period of 3 weeks; intracranial hemorrhage
and grade II Retinopathy of Prematurity (ROP);
seizures; and feeding issues requiring gastrostomy tube placement and Nissen fundoplication.
The following specialists are involved in his
care: Pulmonology (bronchopulmonary dysplasia); Otolaryngology (history of intubation); Neurology (history of seizure); Developmental pediatrics (history of prematurity and risk of developmental delay); Ophthalmology (History of ROP);
durable medical equipment company (need for
oxygen at home, pulse oximeter, etc); Surgery/
Gastroenterology; Speech, Occupational, and
Physical Therapy; home care agency (need for
home nursing 48 hours per day at home).
21.3Why Medical Home?

What is the best approach to address Juans
needs? Juan represents a portion of the 15% of
children and youth with special health care needs
(CYSHCN) in the United States (MCHB Chartbook 2008). CYSHCN are defined as, those
who have or are at risk for chronic physical, developmental, behavioral, or emotional conditions
requiring health and related services of a type or
amount beyond that required by children generally (McPherson etal. 1998). Juan desperately
needs his care delivered in the context of a medical home given his fragile start in the world. The
medical home, first spawned in pediatrics in 1967,
(AAP 1967) posits several tenants including:
continuity, care coordination, cultural competence, compassion, family/patient centeredness,
and continuous care across the life course (AAP
Medical Home Statement 2002). This approach
to health care delivery has gained momentum in
the last decade as we evaluate the US$2.3 trillion spent on health care in 2008 (CMS 2010). As
such, President Barack Obama signed the Patient
and Protection and Affordable Care Act in March
2010 fostering the transformation of our current
health care system to include medical homes for
millions of Americans, including patients like
Juan (Patient and Protection Affordable Health
Care Act 2010).
401
21 Building a Medical Home for Children and Youth with Special Health Care Needs
Community
Resources
& Policies
Health System
Health Care Organization (Medical Home)
Care
Partnership
Support
Delivery
System
Design
Clinical
Information
Systems
Decision
Support
supportive,
integrated
community
informed,
activated
patient/family
prepared,
proactive
practice team
family-centered,
timely,
efficient
evidence-based
& safe
coordinated
& equitable
Functional and Clinical Outcomes
Fig. 21.1 Chronic care model for child health in a medical home
Both pediatric and adult health care providers

agree on the components of the medical home
(Joint Principles Statement 2007) best serving
patients. There are, however, several unique
aspects of the medical home for children warranting consideration. The Five Ds as they are
often called include things like Juans: Developmental trajectory, Dependency on adults, Differential Epidemiology of chronic disease, Demographic Patterns of poverty and diversity, and
overall Dollars spent on children versus adults
(Stille etal. 2010). When caring for children and
youth like Juan, it is paramount that the family
is included in the patient-centered care model
(PCPCC 2007). All too often, the systems are
adult-centric in design and/or fail to acknowledge the inherent differences between pediatric
and adult primary care.
The Chronic Care Model, initially describing
adult diabetes, (Epping etal. 2004) was adapted
for children several years ago (see Fig. 21.1).
This model underscores the importance of the
medical home model intricately linked to com-
munity resources and policies, the need for activated teams, patients and families, and the yield
of favorable outcomes of satisfaction and health
care outcomes for those served by the medical
home. These teams caring for the patients represent a collaborative model, usually physician led,
with defined team member roles and functions to
advance the health of a patient panel (Margollus and Bodenheimer 2010).
21.4Medical Home in the Office

Central to delivering care in the medical home is
a team-based approach to care. This team consists of the patient/family, community partners/
agencies, educational systems, and medical and
health care professionals. In the office, teamlets of physicians and ancillary staff (medical
assistants or nurses) work with patients, families,
and communities to coach patients/families optimizing their health care and chronic condition
management (Chen etal. 2010).
402
Delivering high-quality, patient-/family-centered, and efficient care is the cornerstone of primary care. The team-based model collects and utilizes data from electronic health records, patient/
family feedback, and benchmarks across various
settings to achieve continuous quality improvement. Bright Futures (2007) affords nationally recognized guidelines and standards for the provision
of primary care for children as widely accepted
clinical practice guidelines (Schor 2004). This includes routine developmental screening utilizing
a validated developmental screener, and regular
surveillance for autism (i.e., utilizing the MCHAT
at recommended intervals). There is evidence that
children with a medical home are more likely to
receive health screening and anticipatory guidance
than children not receiving care in the context of a
medical home (Romaire and Bell 2010).
21.5Case Follow-Up One

Juan and his family are present for his 9-monthold Early Periodic, Screening, Diagnosis, and
Treatment (EPSDT) Health Assessment. You
explain to his family that there are a series of
screenings to be completed to ensure Juan is
meeting his developmental milestones and growing well. You also discuss the results and recommendations of this screening. Juans parents talk
about some screening tests that were done as part
of his evaluation for Early Intervention services
and share the results with your team.
21.6Early and Continuous

Screening
Early and continuous screening of children improves the health and well-being of the child
beginning from birth and throughout his or her
lifetime. It is critical to identify, as early as possible, children in the general population who
have special health care needs so that they and
their families can receive the necessary services
to address those needs. Equally important is the
need for children and youth with special health
care needs to have ongoing assessment to identi-
fy newly emerging issues and prevent secondary

conditions that may interfere with their development and well-being. There is evidence that when
screening achieves its goals, it results in potential
cost savings for the health and educational systems and society as a whole with improvement
in the quality of life for the child and his or her
family (Romaire and Bell 2010).
Two decades ago, the Health Resources and
Services Administrations Maternal and Child
Health Bureau launched the Bright Futures initiative to improve the quality of health services for
children through health promotion and disease
prevention. In 2007, the AAP published the third
edition of the Bright Futures Guidelines as a uniform set of recommendations for health supervision for all children, including those with special
health care needs. Bright Futures emphasizes the
importance of providing a medical home to assure
comprehensive and timely screening and surveillance (Bright Futures 2007). Having a medical
home in place should minimize missed screening, incorrect screening, results of screening not
communicated to the family, missed diagnostic
confirmation for those with an abnormal screening result, and lack of care coordination for those
diagnosed with a condition through screening.
Even though screening can happen in a variety of settings, the medical home can serve as
the hub of screening activities that occur within
the practice setting itself, such as nutrition and
adolescent depression screening. It also can serve
as the coordinating point for information from
screening activities such as newborn bloodspot,
hearing, and vision screenings that occur in other
locations. The childs primary care provider is in
the best position to help the family understand
and make use of the screening information, deliver diagnostic and medical management information, and facilitate the appropriate referral and
linkage to community resources.
Screening and surveillance for risk and protective factors are an integral part of routine care for
all children and youth, particularly those with special health care needs. Resilience and susceptibility are factors that influence the child and youths
health and well-being (Newacheck et al. 2006).
Surveillance of parental social-emotional well-
being also has been recommended in the Bright

Futures guidelines (Bright Futures 2007). Given
the longitudinal and trusting relationship that the
primary care provider has with the child and family in the medical home, there can be communication that includes discussion of family support
systems and other psychosocial factors such as
poverty, parental mental health, and substance
abuse (Earls 2010). The primary care provider is
in a unique position to facilitate the early identification of mental health concerns, such as parental stress and maternal depression, and initiation
of intervention to prevent adverse outcomes for
the child and family. Particularly for low-income
families whose only point of access to the health
care system may be the childs medical home,
screening for social needs during the childs visits provides opportunities to evaluate and link the
families to appropriate resources. This may lead
to improved outcomes for low-income childrens
health and development (Garg etal. 2009).
Effective screening requires that it be completed with an appropriate test using a standardized
tool administered at the appropriate age. There
must be effective communication with families
regarding the results of screening and education,
as necessary. Timely followup is needed for diagnostic confirmation after a positive screen with
care and services coordinated over the long term.
An example of such screening in the medical
home is developmental screening as mentioned
in our case with Juan. Not only is a standardized
developmental screening tool administered at
timely intervals, developmental surveillance is
conducted at every preventive visit throughout
childhood (Bright Futures 2007). Such surveillance includes eliciting and attending to parents/
caretakers concerns, obtaining a developmental
history, making accurate and informed observations of the child, identifying the presence of
risk and protective factors, and documenting the
process and findings. Children with developmental concerns are referred to early intervention
and early childhood programs and a program
of chronic condition management is initiated
as demonstrated in Juans case. Surveillance,
screening, evaluation, and referral activities are
documented and accessible to the childrens families (AAP Policy Statement 2006).
403
21.7Case Follow-Up Update:

Maternal Concerns
In the office, Juans mother discussed her need
to return to work and anxiety regarding his care
needs. She mentions that she is fairly certain he
cannot attend the day care she had originally visited when she learned she was pregnant. As she
talks about this, she gets tearful and also says
that she and Juans dad are experiencing marital
strain as this was not what they anticipated the
inauguration of parenting would ensue.
21.8Family-Centered Care
Health care providers often underestimate the
stress of caring for children/youth with special
health care needs on families. Families find
themselves with no training on parenting a typically developing child, yet they are thrown into a
system without any navigation for children with
complex issues.
Similar to Juans mother, families of
CYSHCN experience many challenges. In a recent study, 24% of families with CYSHCN experienced work loss due to caring for their child.
In this same study, support systems in the context of medical home had a protective effect on
work loss, suggesting again the need for Juan
to receive care continuously in a medical home
environment (Okumura et al. 2009). As Juans
caregivers operationalize his services, a familycentered, community-based system of services
is essential (Perrin et al. 2007). This approach
places the family and child with special health
care needs at the epicenter at the array of systems
and providers (mental health, specialists, public
health, medical home, transportation, housing,
social services, education) needed in their care.
In 2001, the Institute of Medicine identified
in its seminal report Crossing the Quality Chasm
patient-centeredness as one of the attributes
of high-quality health care. The IOM defined
patient-centeredness as providing care that is
respectful of and responsive to individual patient
preferences, needs, and values, and ensuring
that patient values guide all clinical decisions
(IOM 2001, p.6). This attribute is fundamental
404
to the patient-centered medical home as defined

by the American Academy of Pediatrics (AAP),
the American Academy of Family Physicians
(AAFP), the American College of Physicians
(ACP), and the American Osteopathic Association (AOA) in the Joint Principles of the PatientCentered Medical Home (Joint Principles Statement 2007).
For CYSHCN, it is the principle of familycentered care that defines the care to be received
in a medical home (AAP Policy Statement 2002).
Since the late 1980s, when a group of parents and
professionals gathered to define it, the concept
of family-centered care has been widely adopted
and operationalized in various service delivery
settings. It has been incorporated into major legislations, including the Omnibus Budget Reconciliation Act (OBRA 1989), which mandated
states to develop family-centered systems of care
as part of their Title V MCH services block grants
(Shelton and Stepanek 1994). The 2002 AAP policy statement on medical home reiterated the central role the families play in the care of CSHCN
(AAP Policy Statement 2002).
Family-centered care is distinguished by the
recognition that the family is the constant in a
childs life, while the service systems and support
personnel within those systems change (Shelton
and Stepanek 1994). A central theme is the respectful partnership between the childs family
and the health care professional that allows for
family/professional collaboration, exchange of
complete and unbiased information, recognition
of family diversity, and provision of appropriate, flexible, and accessible services and supports
(Denboba etal. 2006; IFCC 2010a).
21.9Identifying Roles
and Responsibilities in the
Partnership for FamilyCentered Care
This partnership promotes meaningful communication, which leads to mutual decision making
and a medical home where the patient, family,
and health care professional are free to discuss
all issues and can expect issues to be addressed.
The elements of a successful familyprofessional partnership are mutual commitment, respect,

trust, open and honest communication, cultural
competence, and an ability to negotiate (IFCC
2010b). As Shelton and Stepanek noted, every
childs family has the right to be listened to, to be
informed, to be respected and supported in their
strengths and concerns, and to be involved in
their childs care (Shelton and Stepanek 1994).
A family-centered medical home implies a
commitment to seeking and valuing the voice of
the family caregivers in care decisions, acknowledging that they are usually the experts in the individual strengths and needs of the child. Familycentered care occurs when the health professional
assists the family in decision making that honors
and respects families preferences (AAP Policy
Statement 2003). Such issues as identifying the
familys concerns, setting goals, and choosing
treatment options are part of the decision-making
process that accompanies family-centered care.
The degree to which families serve as the ultimate decision makers in this process is one measure of family centeredness.
21.10Family-Centered Care and

Partners in Decision Making
Patient and family participation in practice improvement activities has been a critical component of the medical home model. Seeking input
from patients and families on what is working in
the care process and care delivery can help practices to respond and improve in a timely way. Surveys can provide a representative snapshot of care
in the practice. Informal inquiries or qualitative
efforts can aid in understanding of the sources of
problems and identification of possible solutions,
and patients and families can help to improve care
through participation in practice workgroups. Engaging patients in practice improvement takes
extra time and resources. Practices may only be
able to utilize surveys or other informal approaches for getting family feedback on specific ideas
and concerns. Such approaches include keeping
a suggestion book or comment cards in waiting
rooms, getting family input on the development
of new educational materials, asking patients and

family members to do a walk-through of the
practice to get ideas on the patient/family perspective of the practice workflow, discussing different
methods of involving family members in shared
decision making, and inviting parents to interview
prospective staff (AAP Policy Statement 2003).
A common expectation for the medical home
and family-centered care is that the patients and
clinicians should be partners in making treatment
decisions (Homer etal. 2008). The shared decision making refers to a formal process in which
patients review evidence-based decision aids to
understand the likely outcome of different treatment options, think about and discuss with a
health care provider what is personally important
about the risks and benefits of different options,
and then decide jointly with the health care provider on a treatment or course of action that best
reflects the patients preferences and values.
21.11Case Follow-Up Two

When you see Juan and his parents at a followup
visit, they bring some relatives with them. Since
his last visit with you, he has seen four specialists (Pulmonology, Otolaryngology, Neurology,
Ophthalmology) and his parents had some questions. They were given several recommendations
regarding medications and therapy; however,
they felt like when they posed questions regarding their religious beliefs and staying overnight
in the hospital for a sleep study, they were not
taken seriously. They are concerned about having
roommates and the food available in the hospital cafeteria. In addition, they were unsure who
would be working with the insurance company
to get the medication authorization approved for
one of the medications prescribed.
21.12Cultural Competency
in the Medical Home
Families attitudes may reflect traditional family,
ethnic, or cultural influences that approach the
concept of illness and chronic conditions in differ-
405
ent ways. It is important to not make inappropriate

assumptions about the familys beliefs and behaviors based on their belonging to a particular ethnic
or cultural group (Brotanek etal. 2008; KagawaSinger and Kassim-Lakha 2003). This is particularly important in the interest and use of complementary, indigenous, and traditional healing or
alternative practices (Goode et al. 2009). The
health care professional should be nonjudgmental
when discussing with the family its goals and reasons for the choice of alternative therapies. Avoid
dismissing complementary and alternative care in
ways that suggest a lack of sensitivity or concern
for the familys perspective. In committing to providing a medical home for a diverse population of
children and youth, the health care professional
must have the capacity to value diversity as well
as demonstrate behaviors and attitudes that enable
them to partner with the families they serve effectively cross-culturally (Goode etal. 2006). Delivering culturally competent care means tailoring
care to patients and families with diverse values,
beliefs, and behaviors in a manner that meets their
social, cultural, and linguistic needs.
In Juans specific case, it would be paramount to
understand his familys perspective of the events.
Explicit discussions and agreement about the
roles and responsibilities of the health care team
and the family, as well as objectives of health care,
are important. To ask families about their views of
the childrens problems and health needs and priorities for care, understanding the context of their
lives and individual circumstances, and learning
about their values and preferences, as well as
their capabilities for participating as partners are
important steps in effectively engaging families
in the care (Kagawa-Singer and Kassim-Lakha
2003). Different ways of discussing partnerships
may be needed for populations with low literacy
skills, limited English proficiency, or a mistrust of
the health care system. This may include foreign
language or sign language interpretation services,
use of cultural brokers, and cross-cultural communication approaches (Goode etal. 2006).
Efforts to include patients as members of
standing patient/family advisory councils, quality
improvement teams, or other ongoing groups to
support design and evaluation of the practice and
406
services have been used in a number of collaborative quality improvement models, particularly
in hospitals (IFCC 2010b, AAP Policy Statement
2003). The American Academy of Pediatrics
Medical Home Toolkit (updated 2008) suggests
that practices should assess the needs of families,
solicit feedback from families, have a parent/practice advisory group, establish specific communication methods or systematic inquiry of family
concerns/priorities, and display a written mission
statement. Because of the training considerations
as well as the need to listen and compromise,
extra staff time is needed to involve families in
ongoing activities. When identifying and recruiting patients and families to participate in practice
improvement, consider the patients and families
ability to work with the health care team, their
breadth of experience with the health care setting,
their ability and willingness to communicate concerns, and the patient or family members ability
to represent patients and families broadly rather
than focus narrowly on a particular issue (IFCC
2010c; Johnson etal. 2008). The enthusiasm of
the practice and its willingness to embrace suggestions from patients and family members can
also influence ongoing participation and facilitate
family buy-in (Palfrey etal. 2004).
Achieving family-centered care is a journey,
not a destination (IFCC). Although increased
satisfaction of care, decreased family strain, and
increased functioning have been observed and
families report improved communication with
their health care providers and enhanced access
to specialty care and community-based support
services (Homer etal. 2008; Denboba etal. 2006;
King etal. 2004), there are segments of the population that have not achieved the desired family
health professional partnership. Efforts must be
made to assist these families and address their
unique issues (Denboba etal. 2006).
21.13Information Sharing
and Comanagement
Information sharing can improve coordination of
care. Families need information about the diagnosis, treatment options, and probable outcomes;
information in the childs medical records; and

information about community resources. There is
evidence that well-designed information, whether paper- or Web-based, can help to improve
patient knowledge and experiences of care as
well as have positive effects on self-efficacy and
health behavior (Coulter and Ellins 2007). While
some families are comfortable handling communication between primary care and specialty care
physicians, some parents are uncomfortable serving as the intermediary (Stille etal. 2007).
Comanagement, communication, and collaboration between specialists and primary care
are integral to managing patients similar to Juan
requiring specialty care (Antonelli et al. 2005).
Juan is one of five million children and youth
in the United States requiring the need for specialty care in managing their conditions (MCHB
Chartbook 2010). Ideally, relationships between
primary care providers and specialists are reciprocal, requiring bidirectional communication
(email, phone call, note, fax; Stille 2009). Electronic health records can foster automated systems and interfaces, but this does not mitigate
the need for communication regarding the plan
of care for Juan and his family. In Juans case,
comanagement regarding his inpatient studies
is integral to fostering partnerships between his
health care team and his family.
When a patient/family is referred to a specialist, the following need to occur:
The family needs to be adequately prepared
for the initial visit and know what to expect.
There needs to be timely and ongoing communication between the primary care clinician
and the specialist.
The consulting specialist needs to have received the appropriate clinical information
including the reason for the consultation
and any relevant laboratory and radiological
resultsbefore the initial visit.
The primary care clinician follows up with
patient/families after the visit with the specialist to review any recommendations.
The primary care clinician assists the family
in making decisions when multiple specialists
may offer divergent points of view about the
treatment regimen or the process.
The primary care clinician assists the family with obtaining the referral when there are
financial barriers.
It is important that responsibilities for management be specifically delineated and the
CYSHCN and their families given clear advice
as to when they should contact the specialty
versus the primary care team. In addition, the
CYSHCN and their families views, concerns,
and needs must be taken into account, with open
bidirectional communication among all involved
parties. In order to successfully implement the
medical home model, primary and specialty
care teams need to pay close attention to coordination of roles, maintaining the CYSHCN and
their families at the forefront to ensure that all
their needs are met. The primary and specialty
care teams need to identify a general process for
communication that is efficient and that provides
a structure for a rapid communication response.
One approach is a clinical fax-back sheet that
includes fax, voicemail, and telephone number of
the person designated to follow up on the referral.
Primary care clinicians also need to communicate and collaborate with community-based educational and social service agencies and programs
in their support of CYSHCN and their families
(Cooley and McAllister 2004). This may involve
working together to develop forms and checklists
that clinicians can utilize to communicate the
needed information for a particular program, e.g.,
eligibility information. Knowledge of the type of
information needed by community service agencies and programs will enhance the ability of the
clinicians to communicate effectively and efficiently with those entities and assist families of
CYSHCN in accessing the necessary services.
Given the increasing complexity of health information and the limited health literacy skills
of the majority of English-speaking adults in the
United States (U.S. Department of Health and
Human Services 2010c), the patients and families
more than ever need the support of their medical
homes to make appropriate health decisions and
to act on them. Discussing the medical record
summary with patients can help them understand
the clinicians perspective on the visit and next
steps. Electronic tools can support information
407
sharing between patients and health care teams.

Tools like previsit and after-visit summaries,
care plans, and personal medical records can
be shared with and among health care professionals. Computer- and Internet-based tools can
support communication between families and
providers, provide information, support skills
training, allow networking among families, facilitate connections between health care providers and between health and other social and educational services, and enable patient feedback on
care. The potential for electronic tools support
of information sharing is great; however, interfaces between practice-based electronic medical
records (EMRs) and patient personal health records are not yet seamless and require ongoing
maintenance.
21.14Case Follow-Up Three:

5-Year Wellness
At Juans 5-year-old well-child visit, he is doing
well. His mother talks about how valuable the
early intervention services proved to be in his
development. She discusses the role of care coordination in his care and their life. Specifically,
she states the communication between your office, the specialists, and the community agencies
serving Juan has fostered efficiency and familycentered approach to their needs. Juans care plan
has been developed and maintained in your office. This care plan is utilized in your office, in
his school, with specialists, by his therapists, in
the Emergency Department, by his babysitters/
caregivers, and his community recreational specialist.
21.15Bringing Medical Home

and Quality to Life in the
Office Setting
There are several tools available to assist in adopting and implementing medical home in practice
settings. In pediatrics, some pediatric practices
employ the Medical Home Index (Cooley etal.
2003), a nationally validated instrument designed
408
to assess measurement of medical home constructs in the outpatient practice setting. The patient registries are critical for managing patients
with chronic conditions (McAllister etal. 2007).
These registries can be developed as part of an
electronic health care record or in a spreadsheet
including but not limited to information such as:
name, date of birth, diagnoses, need for home
nursing, equipment, immunization, specialists,
community partners, severity indices, and benchmarks related to clinical practice guidelines such
as laboratory result studies.
The American Academy of Pediatrics, National Center for Medical Home Implementation
has developed a medical home toolkit to assist
practitioners with assessment tools, preparation,
and step-by-step guides on medical home implementation (www.medicalhomeinfo.org).
Quality improvement is paramount in practice transformation around medical home. Ongoing practice reassessment, targeting goals for
improvement, and employing Plan Do Study Act
(PDSA) Cycles are but a few things the practices
can engage with their teams in striving for quality improvement around medical home (Turchi
et al. 2007).
21.16Care Coordination
A high-quality functioning medical home does
not need to provide each service alone, but
does require effective partnerships across various settings and the community (McAllister
et al. 2009). Care coordination is the hallmark
to achieve these partnerships. The Institute of
Medicine describes care coordination as a cross
cutting system intervention fostering improved
health care quality for adults and children (IOM
2001). In a recent Commonwealth report, Antonelli et al. define pediatric care coordination
as a patient and family centered, assessment
driven, team based activity designed to meet the
needs of children and youth while enhancing the
care giving capabilities of families (Antonelli
etal. 2009).
An essential component of the medical home

model is the ability to provide services that
are coordinated. The effective coordination of
a childs health services is critical in providing high-quality efficient care, particularly for
CYSHCN and their families (McPherson and
Honberg 2002; Cooley and McAllister 2004;
McAllister etal. 2007). According to the American Academy of Pediatrics, care coordination is
a process that facilitates the linkage of children
and their families with appropriate services and
resources in a coordinated effort to achieve good
health (AAP Policy Statement 2005). The patient-/family-centered medical home is well positioned to provide coordinated, compassionate,
family-centered health care by forming strong
links between the specialist team, primary care
provider team, the patient, and his or her family/
caretakers (Cooley 2004). Successful care coordination takes into consideration the continuum
of health, education, early childcare, and social
services needed to improve the quality of care
for CYSHCN. It is to be distinguished from disease or case management that primarily focuses
on health needs of the patients. The fundamental goals of care coordination are to: develop
an anticipatory/proactive plan for appropriate
services for the child and family, integrating the
recommendations of multiple professionals and
service systems and the preferences of child and
family, assist the family in accessing needed services, share information, facilitate communication, avoid duplication of services and unnecessary costs, establish accountability, and optimize
health and well-being of the child (AAP Statement Policy 2005). It is characterized by the following activities:
Assess and update coordination needs.
Create and update with families an individualized plan of care that includes a medical
summary, action plan, and emergency/contingency plan.
Promote communication with families and
among health team members.
Communicate integrated information among
the members of the health team, between
health team and patients/family, and between

the medical and nonmedical teams and across
settings.
Manage/track tests, referrals, and outcomes.
Facilitate transition across health care settings, from acute episode of care to chronic
disease management, as well as from pediatric
to an adult system of care.
Connect with community resources (Antonelli
etal. 2009).
Care planning includes the use of an actionable care plan, a care plan document, emergency information form, and/or a medical summary
(McAllister et al. 2009). These care plans are
informed by input by the teams caring for a
child including community partners, educational systems, primary care providers, specialists,
and most importantly the family and patient.
These documents are used across medical emergency setting, educational environments, by
therapists, and all those necessary to optimize
the care of the child/youth with special health
care needs.
While care coordination is valuable to all patients, it is critical for patients with chronic complex conditions. Their need for care coordination
is related to the complexity of their conditions,
use of multiple health professionals and services,
and demands on the patients, families, and caregivers (McPherson and Honberg 2002). The care
of hospitalized children and youth has become
increasingly complex and often involves multiple
clinicians. Coordination of such care must occur
within the context of the childs/youths medical home and involves ongoing communication
between the family, primary care clinician, and
the specialists involved in the care. Care coordination must include continual involvement of
the family, clear delineation of responsibilities,
and careful handoffs when transitioning between
inpatient and outpatient settings (Lye and The
Committee on Hospital Care and Section on Hospital Medicine 2010).
Effective care coordination optimizes the
physical and emotional health and well-being of
the child and improves the childs and familys
409
quality of life (Stille and Antonelli 2004; Forrest

et al. 2000; Palfrey 2004; Farmer et al. 2005).
Care coordination can favorably impact patient
experiences like Juan and his family. Analyzing data from the 20052006 National Survey
of Children with Special Health Care Needs,
Turchi etal. (2009) found a positive association
between care coordination and familyprovider
relations and family/child outcomes. Accordingly, care coordination was associated with
receipt of family-centered care, experiencing
partnerships with professionals, and satisfaction with services, ease of getting referrals, less
out-of-pocket expenses and family financial
burden, fewer hours per week spent coordinating care, less impact on parental employment,
and fewer school absences and ED visits (Turchi etal. 2009). An Illinois study demonstrated
that children, youth, and their families benefited from care coordination services provided
within community-based primary care practices
and health centers (Rosenberg etal. 2005). The
value of care coordination has also been found
in small samples of primary care pediatric practices where there was a decrease in unnecessary
office and emergency department visits, enhanced family satisfaction (Palfrey etal. 2004;
Antonelli et al. 2008), and reductions in unplanned hospitalizations and emergency department visits (Piekes et al. 2009). Furthermore, an
effective care coordination in a medical home
may address the issue of disparity in access to
services. Improved receipt of services for families of CSHCN in an underserved population
was observed with the intervention of a nurse
care coordinator (Berry et al. 2010). Sensitivity of the primary care clinician to the culture
and needs of the children and their families and
the degree of care coordination are associated
with fewer unmet needs for services (Benedict
2008).
Cultural and organizational changes must
occur for effective care coordination. The medical home practice must engage a collaborative
teamwork approach and transform work processes to include the following:
410
Accommodate needs of patients/families that

require more time.
Share information and knowledge with
patients/families.
Create registries of CYSHCN to identify those
with unique needs, facilitate communication
and monitoring.
Develop individualized evidence-based care
plans.
Engage in quality improvement activities
around practice transformation.
Designate a team member to carry out the
essential care coordination functions, including tracking of referrals.
Have access and linkage to community-based
resources.
Resources, including health information technology, appropriately trained staff, and payment
structure that supports such activities are necessary to enable effective care coordination. In its
2005 policy statement, the AAP recommends a
designated individual/care coordinator to facilitate
the coordination (AAP Policy Statement 2005).
Health information systems are needed to ensure successful transfer of information and establishing and monitoring accountability. Interoperable electronic health records within integrated
systems can serve to support private collaborative
communications between patients, families, and
the care team and facilitate shared decision making. In addition, they can bridge the information
gap that often exists among the clinicians serving
as the medical home team. The use of registries
can support tracking and monitoring functions.
Other health information technology tools like
telemedicine, remote monitoring, online patient
and caregiver assessments, and personal health
records may enable improved workflow and
process changes that enhance health care experiences and outcomes.
Approaches to care coordination within primary care vary (McAllister et al. 2009). The
American Academy of Pediatrics recommended
a designated care coordinator/individual to carry
out the coordination. This may be met by having a nurse physically located in the primary care
practice or one located in an organization outside
of the practice. Rosenberg et al. demonstrated

that CYSHCN benefited from care coordination
activities conducted by registered nurses within
primary care offices or community health centers
(Rosenberg etal. 2005). In this scenario, Szilagui
noted that the care coordination activities require
available personnel and dedicated time.
Antonelli and Antonellis study revealed
costs associated with care coordination are not
directly reimbursable under current payment
mechanisms (Antonelli and Antonelli 2004).
Yet, those activities delivered by nurses often
led to avoidance of office and emergency department visits (Antonelli et al. 2008). Wood
etal. also found that care coordination conducted as part of the pediatric practice resulted in
increased family satisfaction with the quality of
care as well as decreased barriers to care (Wood
et al. 2009). In a Medicaid-managed care plan
study, a care coordinator consulted with primary
care clinicians at multiple practices to develop
integrated, individualized care plans that met
child and family needs. CSHCN and their families who received care coordination reported
improved satisfaction with mental health services and specialized therapies and were observed
to have a decline in unmet needs, improved
satisfaction with specialty care, and improved
ratings of child health and family functioning
(Farmer etal. 2010).
Besides inadequate reimbursement for care
coordination (AAP Policy Statement 2005), the
lack of time has been cited frequently as a barrier to provide care coordination services (Gupta
et al. 2004). Other potential barriers to effective care coordination include: the primary care
clinicians lack of knowledge about the clinical
condition, community resources, and/or the coordination process; lack of communication among
the health care professionals and the organizational entities involved in the persons care;
lack of clearly defined roles for each member of
the medical home team; culture and language;
and educational level, economic situation of
CYSHCN and their families.
As the positive impact of care coordination for
CYSHCN becomes more recognized, program
and policy changes will need to occur to support

the activities, including those devoted to implementation and evaluation (Stille etal. 2009).
21.17Case Follow-Up Four: 14 Years

Juan is quickly growing and at his 14-year-old
EPSDT visit you begin to discuss the process of
transition with his family. At first, his parents get
tearful and express their concerns regarding quitting your office. You go on to explain that as they
begin to plan for this natural developmental milestone, you will all work as a team to ensure that
Juans transition is as seamless as possible. The
transition to an adult primary care provider is an
aspect of the transition process, you explain, but
there are other aspects of transitioning to adultoriented systems including: education, vocation, insurance, sexuality, and self-management
among others. You assure them this will be a
team approach and you will workJuan, his parents, his team of providers, the community, and
all who support him on this journey.
Comprehensive health care planning, moving
from pediatric to adult health care, must be addressed for all youth and young adults, regardless of health conditions (AAP Policy Statement
2002; AAP Clinical Report 2011). To take responsibility for ones own health care is part of
growing up and becoming independent. Health
care transition is critical to have successful adulthood that includes economic self-sufficiency. In
the United States, for the estimated 16% of youth
with special health care needs (YSHCN), the
health care transition goals of optimizing health
and facilitating each young persons attaining his
or her maximum potential are particularly important and challenging (SAM 2003). YSHCN need
to be encouraged and supported to develop the
highest possible level of independence based on
a realistic and objective evaluation of their abilities.
Medical and technological advances, along
with improved care giving, have improved survival rates of children and youth with complex
special health care needs. Increasing numbers
411
of YSHCN with what were once considered to

be life-limiting conditions are growing up into
adults. There is national recognition of the need
for planned transition of these young people,
seen in the inclusion of objectives in the Department of Health and Human Services Healthy
People 2010 and 2020 National Health Promotion and Disease Prevention Objectives and position papers from health professional organizations, including the American Academy of Pediatrics, the American Academy of Family Physicians, the American College of Physicians, and
the Society of Adolescent Medicine (SAM; HHS
Healthy People 2010/2020 (U.S. Department
of Health and Human Services 2010a/b); AAP
Policy Statement 2002; SAM 2003). As outlined
by these groups, transition shares the principles
of medical home: family-centered, continuous,
comprehensive, coordinated, compassionate,
and culturally competent (AAP Policy Statement
2002).
While there may be interest, implementation
is lacking. According to the 2005 National Survey of Children with Special Health Care Needs,
only 41% of parents of YSHCN reported that the
YSHCN received the services they need for transition to adult health care (Lotstein etal. 2009);
even lower is the proportion of YSHCN from
ethnic minorities who receive adequate transition preparation (Lotstein et al. 2005; Lotstein
et al. 2010). The causes of the disparities may
be related to socioeconomic status like insurance, lower educational attainment, housing in
low-income communities, and culture (Lotstein
etal. 2010).
A survey of over 600 AAP members found
most pediatric practices did not routinely offer
the transition support services outlined in the
2002 AAP consensus statement (McManus etal.
2008). Few pediatricians reported initiation of
transition planning early in adolescence. Most
believed that transition planning need not begin
until age 18 and less than half assisted their patients and families in finding adult health care
providers (McManus etal. 2008).
Barriers to successful health care transition
are well documented. A recurring concern cited
412
by pediatric clinicians is the inability to find

qualified adult providers to accept transitioning
patients (Reiss et al. 2005; Scal 2002). A study
of internal medicine clinicians regarding transition of youth with childhood-onset conditions
highlighted their concerns in the areas of family
involvement, patient maturity, systems issues,
providers competency, patients psychosocial
needs, and coordination of the transition process (Peter etal. 2009). Specifically, there were
concerns that the family will not stay involved,
especially for patients with mental retardation
or cerebral palsy, the need for super specialist
to care for very complicated medical conditions,
such as congenital heart disease, the need to face
disability and end-of-life issues at an early age
and early in the doctor-patient relationship, time
limitations attributable to managed care/financial
considerations, and families high expectations
for internists time (Peter etal. 2009).
In another survey of general internists and
pediatricians assessing their approaches to youth
with chronic conditions and delivering effective
care, Okumura etal. reported that 50% of internists and 62% of pediatricians believed finding
an adult medical home for transitioning youth
would be difficult. Lack of time and reimbursement were regarded as major barriers to good
transition services but effectiveness of care coordination were thought to contribute to improved
transition and chronic condition care (Okumura
etal. 2009).
Other barriers attributed to health care professionals include: lack of expertise and experience with YSHCN with complex health needs
and intellectual disabilities; lack of training in
childhood-onset and congenital disorders and
meeting YSHCNs psychosocial needs; lack of
adult subspecialists to care for YSHCN with congenital and childhood-onset disorders; lack of
reimbursement for time required by pediatric or
adult primary care practices to provide transition
services; lack of knowledge about community resources; difficulty that youth and families have
in leaving trusted pediatric providers; and lack of
self-efficacy, self-confidence, and self-advocacy
among YSHCN (Callahan etal. 2001; McManus
etal. 2008; Reiss and Gibson 2002; Reiss etal.

2005; Okumura etal. 2009). Adult clinicians cite
general challenges to accepting adolescents and
young adults into their practices, including the
more time that these patients require and their
dependence on their families for ongoing care
and support.
Youth transition to adult health care also can
be an especially difficult time for parents and
guardians, affecting them emotionally, mentally,
and financially as they assist with coordinating
a new set of services for the adolescents (Rosen
et al. 2003). Parents may be reluctant to leave
their childs pediatric provider or harbor myths
surrounding the adult health care system, have
feelings of exclusion from their childs decisionmaking process or concerns about their childs
ability to manage his or her condition independently (Wallis 2007). When the youth has complex health problems that family physicians, internists, and other providers who care for adults
are neither familiar with nor comfortable treating
(e.g., cystic fibrosis or a significant congenital
heart disease such as hypoplastic left heart syndrome), to make such a transition in real-life
clinical practice can be very challenging for both
the patient and the clinicians involved. From the
families perspectives, the barriers are not only
the fragmented health care system and limited
insurance coverage (White 2002), but lack of capacity of adult providers, their lack of knowledge
about or linkages to community resources, and
lack of staff times in the adult practices (Reiss
etal. 2005; Wang et al. 2010).
The pediatric clinician plays an important role
in facilitating transition from pediatric-oriented
to adult-oriented health care. Planning for transition should be a standard part of providing care
for all youth and young adults, not just YSHCN.
He or she needs to involve the family and youth
in the development of a transition plan and in
setting goals that are not only focused on medical aspects (Olsen and Swigonski 2004). The
clinician must encourage the active involvement
of the youth at an early age in the management
of his or her chronic condition and development
of a plan for transition, with clearly stated goals
for health, vocation, education, and independent living. Studies suggest the optimum time
to begin the process is between 11 and 13 years
of age (White and Hackett 2009). While it is not
always possible to begin the process between 11
and 13 years of age, it should commence early
enough to allow the adolescent time to increase
his or her capacity for self-care and the family
time to adjust to the changing roles and responsibilities.
Among the issues that clinicians need to consider are the following:
Health promotion and preventionThe need
to regularly screen for condition-specific
needs as well as general health needs, including hygiene, nutrition, exercise, risk-taking
behaviors, sexuality issues, reproductive
health, mental health, and routine needs such
as dental, vision, and immunizations.
Guardianship issues, if applicable.
Coordination of linkages with the relevant
specialists and local community resources and
support.
Identification of adult clinicians and transfer
of care.
Transition across the lifespan, with services
centered on core outcomes including health
care, education, employment, and independent living.
Continuity of insurance coverage (White
2002).
Services that are continuous, comprehensive,
person- and family-centered.
Written health care transition plan.
The health care transition plan should include
the following:
Discussion of differences in the cultures of the
pediatric and adult health care systems.
Delineating the necessary youth and family
skills required to transition and coordinate
the skill development with other systems like
education.
Creation of a portable medical record/summary.
Creation of an emergency plan.
Outline of health promotion activities.
Outline of educational and career/work goals.
413
Discussion of independence and transportation issues.

Visit an adult practice or plan a joint visit with
an adult provider (White and Hackett 2009).
Parents and guardians have key roles in the
transitioning process. They need to support their
childrens efforts toward gaining independence,
including youth in decision making as early as
possible, when developmentally appropriate.
Parents should support their children in carrying
an insurance card and portable medical summary
and making their own appointments and having
solo office visits.
Early discussion of expectations around the
transfer of care, opportunities to meet new care
teams and visits to the adult practices were important to the youth who participated in one study
(Tuchman etal. 2008). In other surveys, the youth
indicated that they wanted to be better informed
about their health issues, how to stay healthy and
manage their own care, find a good adult doctor,
know what accommodations they need and how
to find resources, know what to do in an emergency and how to find and keep health insurance,
be their own advocate, and have family members
expect them to be successful adults (Kelly etal.
2002; White and Hackett 2009).
In 2009, the Florida Health Care Transition
Services Task Force identified 10 steps to successful health care transition:
Start early.
Focus on responsibility for health care.
Create a health summary.
Create a health care transition plan.
Maintain wellness.
Know options for health insurance and public
assistance programs.
Find adult providers.
Include health in other areas of transition.
Integrate health care transition activities in the
students Individualized Education Plan.
Learn about other community services and
supports for adults (Florida Health Care Transition Task Force 2009).
Within the medical home the primary care
practitioner not only serves to advocate for successful outcomes in the domains of health care
414
but also serves to advocate vocation, education,

and independent living. Youth and young adults
who have a medical home are more likely to experience transition that meets their individual
needs and receive the necessary support to becoming part of the adult community. Still, to
fully realize the potential of effective health care
transition requires system and infrastructure development to support collaborative partnership
among the stakeholders, including professionals in health care, education, and employment,
policy changes that support the medical home
model, and research on clinical outcomes and patient, family, and provider satisfaction (Freed and
Hudson 2006).
21.18What is the Future

of Medical Home?
Adequate payment for the provision of medical
home services is integral to the viability in practice. The current focus on the medical home resulted from policy efforts to promote demonstrations of new payment models for primary care.
Working with the four primary care specialty
societies, the National Committee for Quality Assurance (NCQA) developed the Physician
Practice ConnectionsPatient-Centered Medical Home (PPC-PCMH) program (NCQA
2008). All saw the value of a standardized means
of assessing the degree to which practices function as PCMHs. The PPC-PCMH standards have
been endorsed by the National Quality Forum
(NQF, as the Medical Home System Survey;
NQF 2011), numerous physician organizations,
and the Patient-Centered Primary Care Collaborative (PCPCC), a multistakeholder coalition of
employers, consumer groups, health care providers, and others that advocate for the PCMH. The
PPC-PCMH is now used in most PCMH demonstrations that include payment reform (PCPCC
2009). Several other tools for surveying the medical home characteristics of practices have been
used mostly for research projects. Some States
have created their own tools for demonstration
projects (e.g., Minnesota Department of Health).
With the healthcare marketplace showing sus-
tained interest in the PCMH model, a number of

organizations have emulated the NCQA in developing programs that recognize and/or accredit
practices and healthcare organizations as medical
homes.
Accountable care organizations (ACOs) have
been cited as a mechanism to ensure the survival of the medical home across sectors (Joint
Principles for ACO 2010). MedPAC (2009) has
defined ACOs as a set of providers associated
with a defined population of patients, accountable for the quality and cost of care delivered to
that population. The providers could include a
hospital, a group of primary care providers, specialists, and possibly other health professionals
who share responsibility for the quality of care
and cost of care provided to patients. The key
elements include payment reform, performance
measurement and accountability, and coordinated continuum of care. In the ACO model, there
are incentives to manage health care utilization,
improve quality, and shared savings to control
cost. The patient-/family-centered medical home
model can be enhanced through the ACO model
with greater organization, coordination, and integration throughout the care system. Similarly,
ACOs will be more successful if they incorporate the medical home model with care that is
patient-/family-centered, accessible, continuous,
comprehensive, coordinated, compassionate, and
culturally effective. How and if the ACO model
will be widely implemented in the US health system is not known. Whether a medical home will
be delivered in the context of an ACO, its value
to children and youthparticularly those with
special health care needsand their families, and
their communities cannot be understated.
References
American Academy of Family Physicians (AAFP), American Academy of Pediatrics (AAP), American College
of Physicians (ACP), & American Osteopathic Association (AOA). (2007). Joint principles of the patientcentered medical home, February, 2007. Washington,
DC: AAFP, AAP, ACP, & AOA.
American Academy of Pediatrics. (2005). Care coordination in the medical home: Integrating health and
related systems of care for children with special health
care needs. Pediatrics, 116(5), 12381244.
American Academy of Pediatrics, American Academy
of Family Physicians, & American College of PhysiciansAmerican Society of Internal Medicine.
(2002). A consensus statement on health care transitions for young adults with special health care needs.
Pediatrics, 110, 13041306.
American Academy of Pediatrics, American Academy
of Family Physicians, & American College of Physicians. (2011). Clinical report: Supporting the health
care transition from adolescence to adulthood in the
medical home. Pediatrics 128(1), 182200.
American Academy of Pediatrics Committee on Hospital
Care/Institute for Family-Centered Care. (2003). Policy Statement: Family centered care and the pediatricians role. Pediatrics, 112(3), 691696.
American Academy of Pediatrics, Council on Children
with Disabilities, Section on Developmental Behavioral Pediatrics, Bright Futures Steering Committee.
(2006). Medical home initiatives for children with
special needs project advisory committee. Pediatrics,
118, 405420.
American Academy of Pediatrics, Council on Pediatric
Practice. (1967). Pediatric records and a medical
home. In: Standards of child care (pp.7779). Evanston: American Academy of Pediatrics.
American Academy of Pediatrics Medical Home Initiatives for Children with Special Health Care Needs
Advisory Committee. (2002). Policy Statement: The
medical home. Pediatrics, 110, 184186.
Antonelli, R. C., & Antonelli, D. M. (2004). Providing a
medical home: The cost of care coordination services
in a community-based, general pediatric practice.
Pediatrics, 113(5), 15221528.
Antonelli, R. C., Stille, C. J., & Freeman, L. C. (2005).
Enhancing collaboration between primary and subspecialty care providers for children and youth with special health care needs. Washington, DC: Georgetown
University Center for Child and Human Development.
http://gucchd.georgetown.edu/topics/special_health_
needs/object_view.html?objectID=.6582 Accessed 29
Dec 2010.
Antonelli, R. C., Stille, C. J., & Antonelli, D. M. (2008).
Care coordination for children and youth with special
health care needs: A descriptive, multisite study of
activities, personnel costs and outcomes. Pediatrics,
122, e122e216.
Antonelli, R. C., McAllister, J., & Popp, J. (2009). Developing care coordination as a critical component of a
high performance pediatric health care system: Forging a multidisciplinary framework for pediatric care
coordination. Washington, DC: The Commonwealth
Fund.
Benedict, R. E. (2008). Quality medical homes: Meeting
childrens needs for therapeutic and supportive services. Pediatrics, 121, e127e134.
Berry, S., Soltau, E., Richmond, N., Kieltyka, R., Tran, T.,
& Williams, A. (2010). Care coordination in a medical
415
home in post-Katrina New Orleans: Lessons learned.

Maternal and Child Health Journal, 15(6), 782793.
Bright Futures. (2007). Bright Futures: Guidelines for
Health Supervision of Infants, Children and Adolescents. Pediatrics, 124(1), 410421.
Brotanek, J. M., Seeley, C. E., & Flores, G. (2008). The
Importance of cultural competency in general pediatrics. Current Opinion in Pediatrics, 20(6), 711718.
Callahan, S. T., Winitzer, R. F., and Keenan, P. (2001).
Transition from pediatric to adult-oriented health care:
A challenge for patients with chronic disease. Current
Opinion in Pediatrics, 13, 310316.
Centers for Medicare and Medicaid Services, Office of
the Actuary, National Health Statistics Group. (2010).
National health care expenditure data. www.cms.gov/
NationalHealthExpendData. Accessed 11 Aug 2010.
Chen, E. H., Thorn, D. H., Hessler, D. M., LaPhengrasamy, L., Hammer, H., Saba, G., & Bodenheimer,
T. (2010). Using the teamlet model to improve chronic
care in an academic primary care practice. Journal of
General Internal Medicine: Official Journal of the
Society for Research and Education in Primary Care
Internal Medicine, 25(Suppl 4), S610S614.
Cooley, W. C. (2004). Redefining primary pediatric care
for children with special health care needs: The primary care medical home. Current Opinion in Pediatrics, 16, 689692.
Cooley, W. C., & McAllister, J. W. (2004). Building medical home: Improvement strategies in primary care for
children with special health care needs. Pediatrics,
113, 14991506.
Cooley, C., McAllister, J. W., Sherrieb, K., & Clark, R.
E. (2003). The medical home index: Development and
validation of a new practice-level measure of implementation of the medical home model. Academic
Pediatrics, 3(4), 173180.
Cooley, W. C., McAllister, J. W., Sherrieb, K., Khulthau,
K. (2009). Improved outcomes associated with medical home implementation in pediatric primary care.
Coulter, A., & Ellins, J. (2007). Effectiveness of strategies
for informing, educating, and involving patients. British Medical Journal, 335, 2427.
Denboba, D., McPherson, M. G., Kenney, M. K., Strickland, B., & Newacheck, P. W. (2006). Achieving family and provider partnerships for children with special
health care needs. Pediatrics, 118(4), 16071615.
Earls, M. F., & The Committee on Psychosocial Aspects
of Child and Family Health. (2010). Incorporating recognition and management of perinatal and postpartum
depression into pediatric practice. Pediatrics, 126,
10321039.
Epping, J. E., Pruitt, S. D., Bengoa, R., Wagner, E. H.
(2004). Improving the quality of health care for
chronic conditions. Quality & Safety in Health Care,
13, 299305.
Farmer, J. E., Clark, M. J., Sherman, A., Marien, W. E., &
Selva, T. J. (2005). Comprehensive primary care for
children with special health care needs in rural areas.
Pediatrics, 116(3), 649656.
416
Farmer, J. E., Clark, M. J., Drewel, E. H., Swensen, T.
M., & Ge, B. (2010). Consultative care coordination
through the medical home for CSHCN: A randomized
controlled trial. Maternal and Child Health Journal.
(Aug. 19; epub ahead of print).
Florida Health Care Transition Services Task Force for
Youth and Young Adults with Disabilities. (2005).
Ensuring successful transition from pediatric to adult
health care. http://www.floridahats.org/?page_id=587.
Forrest, C. B., Glade, G. B., Baker, A. E., Bocian, A.,
von Schrader, S., & Starfield, B. (2000). Coordination
of specialty referrals and physician satisfaction with
referrals. Archives of Pediatrics & Adolescent Medicine, 154(5), 499506.
Freed, G. L., & Hudson, E. J. (2006). Transitioning
children with chronic diseases to adult care: Current
knowledge, practices, and directions. The Journal of
Garg, A., Butz, A. M., Dworkin, P. H., Lewis, R. A., &
Serwint, J. R. (2009). Screening for basic social needs
at a medical home for low-income children. Clinical
Pediatrics, 48(1), 3236.
Goode, T. D., Dunne, M. C., & Bronheim, S. M. (2006).
The evidence base for cultural and linguistic competency in health care. New York: The Commonwealth
Fund. Accessed 29 Jan 2011.
Goode, T. D., Haywood, S. H., Wells, N., & Rhee, K.
(2009). Family-centered, culturally, and linguistically
competent care: Essential components of the medical
home. Pediatric Annals, 38(9), 505512.
Gupta, V. B., OConnor, K. G., & Quezada-Gomez, C.
(2004). Care coordination services in pediatric practices. Pediatrics, 113, 15171521.
Homer, C. J., Klatka, K., Romm, D., Kuhlthau, K.,
Bloom, S., Newacheck, P., Van Cleave, J., & Perrin,
J. M. (2008). A review of the evidence for the medical home for children with special health care needs.
Pediatrics, 122(4), e922e937.
Institute for Family-Centered Care. (2010a). What is
patient- and family-centered health care? http://www.
familycenteredcare.org. Accessed 10 March 2010.
Institute for Family-Centered Care. (2010b). Advancing
the practice of patient- and family-centered care in primary care and other ambulatory settings: How to get
started. http://www.familycenteredcare.org. Accessed
10 March 2010.
Institute for Family-Centered Care. (2010c). Patients and
families as advisors in primary care: Broadening our
vision. http://www.familycenteredcare.org. Accessed
10 March 2010.
Institute of Medicine, Committee on Quality of Health
Care in America. (2001). Crossing the quality chasm:
A new health system for the 21st century. Washington,
DC: National Academy Press.
Johnson, B., Abraham, M., Conway, J., Simmons, L.,
Edgman-Levitan, S., Sodomka, P., Schlucter, J., &
Ford, D. (2008). Partnering with patients and families
to design a patient- and family-centered health care
system: Recommendations and promising practices.
Bethesda: Institute for Family-Centered Care. http://

www.familycenteredcare.org/pdf/PartneringwithPatientsandFamilies.pdf. Accessed 10 March 2010.
Joint Principles for Accountable Care Organizations.
(2010). http://www.aafp.org/online/etc/medialib/aafp_
org/documents/policy/private/healthplans/payment/
acos/20101117.Par.0001.File.tmp/AAFP-ACO-Principles-2010.pdf. Accessed 19 Nov 2010.
Joint Principles of the Patient Centered Medical Home.
(2007). American Academy of Family Physicians
(AAFP), American Academy of Pediatrics (AAP),
American College of Physicians (ACP), American
Osteopathic Association (AOA). Feb 2007.
Kagawa-Singer, M., & Kassim-Lakha, S. (2003). A strategy to reduce cross-cultural miscommunication and
increase the likelihood of improving health outcomes.
Academic Medicine: Journal of the Association of
American Medical Colleges, 78, 577587.
Kelly, A. M., Kratz, B., Bielski, M., & Rinehart, P. M.
(2002). Implementing transitions for youth with
complex chronic conditions using the medical home
model. Pediatrics, 110(6), 13221327.
King, S., Teplicky, R., King, G., & Rosenbaum, P. (2004).
Family-centered service for children with cerebral
palsy and their families: A review of the literature.
Seminars in Pediatric Neurology, 11(1), 7886.
Lotstein, D. S., McPherson, M., Strickland, B., & Newacheck, P. W. (2005). Transition planning for youth
with special health care needs: Results from the
national survey of children with special health care
needs. Pediatrics, 115, 15621568.
Lotstein, D. S., Ghandour, R., Cash, A., McGuire, E.,
Strickland, B., & Newacheck, P. (2009). Planning for
health care transitions: Results from the 20052006
national survey of children with special health care
needs. Pediatrics, 123, e145e152.
Lotstein, D. S., Kuo, A. A., Strickland, B., & Tait, F.
(2010). The transition to adult health care for youth
with special health care needs: Do racial and ethnic
disparities exist? Pediatrics, 126, S129S136.
Lye, P. S., & The Committee on Hospital Care and Section on Hospital Medicine. (2010). Physicians roles in
coordinating care of hospitalized children. Pediatrics,
126(4), 829832.
Margollus, D., & Bodenheimer, T. (2010). Transforming
primary care: From past practice to the practice of the
future. Health Affairs, 29(5), 779784.
Maternal and Child Health Bureau, Health Resources and
Services Administration, U.S. Department of Health
and Human Services. (2008). The national survey
of children with special health care needs chartbook
20052006. Rockville: U.S. Department of Health
and Human Services. http://mchb.hrsa.gov/cshcn05.
McAllister, J. W., Presler, E., & Cooley, W. C. (2007).
Practice-based care coordination: A medical home
essential. Pediatrics, 120(3), e723e733.
McAllister, J. W., Presler, E., Turchi, R. M., & Antonelli,
R. C. (2009). Achieving effective care coordination in
the medical home. Pediatric Annals, 38(9), 491497.
McManus, M., Fox, H., OConnor, K., Chapman, T., &
MacKinnon, J. (2008). Pediatric perspectives and
practices on transitioning adolescents with special
needs to adult health care. (Fact Sheet No. 6. October 2008). Washington DC: The National Alliance to
Advance Adolescent Health.
McPherson, M., & Honberg, L. (2002). Identification of
children with special health care needs: A cornerstone
to achieving healthy people 2010. Ambulatory Pediatrics: The Official Journal of the Ambulatory Pediatric
Association, 2, 2223.
McPherson, M., Arango, P., Fox, H., Lauver, C., McManus, M., Newacheck, P., Perrin, J., Shonkoff, J.,
& Strickland, B. (1998). A new definition of children with special health care needs. Pediatrics, 102,
137140.
Medpac. (2009). Accountable care organizations 2009.
http://www.academyhealth.org/files/publications/
RschInsightMedHomes.pdf. Accessed 2 Jan 2011.
National Quality Forum. (2011). National voluntary consensus standards for child health quality measures: A
consensus report. Washington: NQF.
NCQA. (2008). Standards and guidelines for physician practice connectionsPatient-centered medical homeTM
(PPC-PCMHTM). http://www.ncqa.org/tabid/629/
Default.aspx. Accessed 17 Dec 2008.
Newacheck, P. W., Rising, J. P., & Kim, S. E. (2006).
Children at risk for special health care needs. Pediatrics, 118, 334342.
Okumura, M. J., VanCleave, J., Gnanasekaran, S., & Hourow, A. (2009). Understanding factors associated with
work loss for families caring for CSHCN. Pediatrics,
129(4), S392S398.
Olsen, D. G., & Swigonski, N. L. (2004). Transition to
adulthood: The important role of the pediatrician.
Pediatrics, 113(3), e159e162.
Omnibus Budget Reconciliation Act (OBRA). (1989).
U.S. senate roll call votes 101st Congress1st Session as compiled through senate LIS by the senate bill
clerk under the direction of the secretary of the senate. Vote Summary. Question: On Passage of the Bill
(H.R. 3299). http://www.senate.gov/legislative/LIS/
roll_call_lists/roll_call_vote_cfm.cfm?congress=101
&session=1&vote=00243. Accessed 3 April 2011.
Palfrey, J., Sofis, L., Davidson, E., Liu, J., Freeman, L.,
Ganz, M. L., & Pediatric Alliance for Coordinated
Care. (2004). The pediatric alliance for coordinated
care: Evaluation of a medical home model. Pediatrics,
113(5 Suppl), 15071516.
Patient-Centered Primary Care Collaborative. (2007).
www.pcpcc.net. Accessed 30 Jan 2009.
Patient Protection and Affordable Care Act. (2010).
http://frwebgate.access.gpo.gov/cgi-bin/getdoc.
cgi?dbname=111_cong_bills&docid=F:h3590enr.txt.
pdf. Accessed August 11, 2010.
Perrin, J. M., Romm, D., Bloom, S. R., Homer, C. J.,
Kuhlthau, K. A., Cooley, C., Duncan, P., Roberts,
R., Sloyer, P., Wells, N., Newacheck, P. (2007). A
family-centered, community-based system of services for children and youth with special health care
417
needs. Archives of Pediatrics & Adolescent Medicine,

161(10), 933936.
Peter, N. G., Forke, C. M., Ginsburg, K. R., & Schwarz,
D. F. (2009). Transition from pediatric to adult care:
Internists perspectives. Pediatrics, 123, 427423.
Reiss, J., & Gibson, R. (2002). Health care transitions:
Destinations unknown. Pediatrics, 110(6), 13071314.
Reiss, J. G., Gibson, R. W., Walker, L. R. (2005). Health
care transition: Youth, family, and provider perspectives. Pediatrics, 115(1), 112120.
Romaire, M. A., & Bell, J. F. (2010). The medical home,
preventive care screenings, and counseling for children: Evidence from the medical expenditure panel
survey. Academic Pediatrics, 10(5), 338345.
Rosen, D. S., Blum, R. W., Britto, M., Sawyer, S. M.,
Siegel, D. M., & Society for Adolescent Medicine.
(2003). Transition to adult health care for adolescents
and young adults with chronic conditions. Journal of
Adolescent Health, 33, 309311.
Rosenberg, D., Onufer, C., Clark, G., Wilkin, T., Rankin,
K., & Gupta, K. (2005). The need for care coordination among children with special health care needs
in Illinois. Maternal and Child Health Journal, 9(2
suppl), S41S47.
Scal, P. (2002). Transition for youth with chronic conditions: Primary care physicians approaches. Pediatrics, 110(6), 13151321.
Schor, E. L. (2004). Rethinking well-child care. Pediatrics, 114, 210216.
Shelton, T. L., & Stepanek, J. S. (1994). Family-centered
care for children needing specialized health and
developmental services. Bethesda: Association for the
Care of Childrens Health.
Society of Adolescent Medicine Position Paper. (2003).
Transition to adult health care for adolescents and
young adults for chronic conditions. The Journal of
Adolescent Health: Official Publication of the Society
for Adolescent Medicine, 33, 309311.
Stille, C. J. (2009). Communication, co-management and
collaborative care for children and youth with special
health care needs. Pediatric Annals, 38(9), 498504.
Stille, C., & Antonelli, R. (2004). Coordination of care for
children with special health care needs. Current Opinion in Pediatrics, 16(6), 700705.
Stille, C. J., Primack, W. A., McLaughlin, T. J., & Wasserman, R. C. (2007). Parents as information intermediaries between primary care and specialty physicians.
Pediatrics, 120(6), 12381246.
Stille, C. J., Turchi, R. M., Antonelli, R., Cabana, M.,
Cheng, T. L., Baroque, D., & Perrin, J. (2010). The
family-centered medical home: Specific considerations for child health research and policy. Academy
of Pediatrics, 10(4), 211217.
Tuchman, L. K., Slap, G. B., & Britton, M. T. (2008).
Transition to adult care: Experiences and expectations
of adolescents with a chronic illness. Child: Care,
Health and Devevelopment, 34(5), 557563.
Turchi, R. M., Gatto, M., & Antonelli, R. (2007). Children
and youth with special healthcare needs: There is no
418
place like (a medical) home. Current Opinion in Pediatrics, 19(4), 503508.
Turchi, R. M., Berhane, Z., Bethell, C., Pomponio, A.,
Antonelli, R., & Minkovitz, C. S. (2009). Care coordination for CSHCN: Associations with family-provider relations and family/child outcomes. Pediatrics,
124(Suppl 4), S428S434.
U.S. Department of Health and Human Services. (2010a).
Healthy People 2010 (2nd ed). http://www.cdc.gov/
nchs/healthy_people/hp2010/hp2010_indicators.htm.
Accessed 2 Feb 2011.
U.S. Department of Health and Human Services. (2010b).
Healthy people 2020. http://www.healthypeople.
gov/2020/topicsobjectives2020/pdfs/HP2020objectives.pdf. Accessed 2 Feb 2011.
U.S. Department of Health and Human Services.
(2010c). Office of disease prevention and health
promotion. National Action Plan to Improve Health
Literacy.Washington, DC: Author.
Wallis, C. (2007). Transition of care in children with
chronic disease. British Medical Journal, 334(7606),
12311232.

Wang, G., Grembowski, D., & Watts, C. (2010). Risk of
losing insurance during the transition into adulthood
among insured youth with disabilities. Maternal and
Child Health Journal, 14, 6774.
White, P. H. (2002). Access to health care: Health
insurance considerations for young adults with special health care needs/disabilities. Pediatrics, 110,
13281335.
White, P. H., & Hackett, P. (2009). On the threshold to the
adult medical home: Care coordination in transition.
Pediatric Annals, 38(9), 513520.
Wood, D. L., McCaskill, Q. E., Winterbauer, N., Jobli, E.,
Hou, T., Wludyka, P. S., Stowers, K., & Livingood,
W. (2009). A multi-method assessment of satisfaction with services in the medical home by parents
of children and youth with special health care needs
(CYSHCN). Maternal and Child Health Journal,
13(1), 517.
Epilogue: Advancing Health

Outcomes and Social
Participation for CSHCN
22
David Hollar
Abstract
Children with special health care needs (CSHCN), including children with
disabilities, represent a large percentage of children in every human society. CSHCN represent just another aspect of human variation or diversity,
with focal conditions arising from a multitude of genetic and/or environmental causes, many of which are incompletely understood at present. As
outlined in the chapters of this book, considerable medical, public health,
and educational research is being conducted worldwide to better understand the etiology of numerous conditions, to identify effective treatments
that improve health outcomes and quality of life for CSHCN, and to provide safe, healthy environments where children with and without disabilities can positively interact socially so that CSHCN can grow and develop
into independent and productive adult lives wherever possible.
Children with special health care needs

(CSHCN), including children with disabilities,
represent a large percentage of children in every
human society. CSHCN represent just another
aspect of human variation or diversity, with focal
conditions arising from a multitude of genetic
and/or environmental causes, many of which
are incompletely understood at present. As outlined in the chapters of this book, considerable
medical, public health, and educational research
is being conducted worldwide to better understand the etiology of numerous conditions, to
identify effective treatments that improve health
D. Hollar ()
University of North Carolina at Chapel Hill,
7530 Chapel Hill, NC 27599, USA
e-mail: David_Hollar@med.unc.edu;
outcomes and quality of life for CSHCN, and to

provide safe, healthy environments where children with and without disabilities can positively
interact socially so that CSHCN can grow and
develop into independent and productive adult
lives wherever possible.
Each of us will encounter disability and health
care needs at some point during our lives. Consequently, disability pervades all aspects of society and should not be assumed fallaciously to
represent deviations from normalcy. CSHCN as
well as adults with disabilities do not have deficiencies that need to be fixed. Instead, health
providers, educators, family members, peers,
neighbors, and other members of the community
should have constructive roles in accepting and
embracing CSHCN as equals. The overwhelming majority of CSHCN can follow their own,

419
420
unique developmental pathways toward and into

adulthood, where they can pursue higher education and achieve success in professional careers.
They can be artists, scientists, and leaders in our
communities, if we help them to pursue their
dreams (Stepanek 2001). At the national conference of the National Center on Birth Defects and
Developmental Disabilities (NCBDDD) on July
2004, all conference participants received a copy
of one of Mattie Stepaneks books of poetry, only
months after Mattie passed away from Duchenne Muscular Dystrophy. His brilliant poems
(Stepanek 2001; Mattie J.T. Stepanek Foundation, www.mattieonline.com) illustrate the hopes
and aspirations of many CSHCN. Like the dedication to this handbook, which refers to SaintExupery (1943), Stepaneks work calls for the
realization of human potential in all of us.
Nevertheless, realities currently do not match
our goals. As discussed in several chapters, children with disabilities face numerous barriers to
full participation in society because of their special health care needs, particularly by misperceptions made by well-intended people in their environment as well as individuals who incorrectly
view CSHCN as burdens upon society. CSHCN
face not only their disability but these fallacious
misperceptions, lack of access to community activities, lack of access to educational and career
opportunities, lack of physical access to buildings, needs for transportation and time accommodations, etc. Children and adolescents with
disabilities are at risk for secondary conditions
arising from their primary condition and are at
risk for being bullied and exposed to substance
abuse. Adults with disabilities are significantly
less likely to be employed compared with persons
without disabilities, and when they are employed,
they are significantly underemployed, even when
they possess higher education degrees. As part of
this vicious cycle, more children and adults with
disabilities come from lower socioeconomic demographic strata. All of this occurs despite numerous federal and state legislations to increase
social opportunities for CSHCN and persons with
disabilities. CSHCN and their families ultimately
have to deal with their condition as well as compounded social and environmental barriers.
D. Hollar
Many of the chapters have emphasized the

biopsychosocial model of disability outlined in
the World Health Organizations International
Classification of Functioning, Disability, and
HealthChildren and Youth versions (ICF-CY)
as well as the extensive health goals outlined in
Healthy People 2010 and 2020. The ICF emphasizes the intersection of health conditions, personal and environmental (e.g., family, peers) factors, and the affected activities and participation
by the child in society. Healthy People 2010 and
2020 include Section6 on Disability and Secondary Conditions as well as Section16 on Maternal,
Infant, and Child Health, among other relevant
focal areas. Goals in Healthy People 2010 and
2020 concentrate in these two areas but encompass goals across multiple sections. Public health
researchers, policy makers, and CSHCN disability advocates use these biopsychosocial models
to develop intervention health and education and
vocational rehabilitation programs, assistive devices, and health care interventions to help full
community integration and health assistance for
children with disabilities.
Each CSHCN develops through life in their
own way just as any person does, although
CSHCN face additional barriers. The ICF biopsychosocial model identifies barriers as well as
facilitators that can help CSHCN to positively develop in their varied environments. For example,
Martin (Chap. 3) discusses the importance of
CSHCN developing positive self-concepts that
can motivate them for success as they grow
older. Turchi and Mann (Chap.21) illustrate the
importance of the medical home and continuity
of family care; regular pediatrician and later family physician and other health specialist visits are
very important to optimize health outcomes.
The preceding chapters have identified numerous conditions, best practice treatments and
interventions, and prognoses for many types of
disabilities. However, they only cover some of
the more prevalent conditions experienced by
CSHCN. Of particular note are genetic and metabolic conditions (Chaps.1315), which increase
in number monthly as new mutations, chromosome deficiencies, and epigenetic influences on
gene regulation/biochemical pathways are dis-
22 Epilogue: Advancing Health Outcomes and Social Participation for CSHCN
covered. Many of the genetic or metabolic conditions are so rare that only a few children with
these cases might be diagnosed in an entire country in any given year. Furthermore, the discovery
of new conditions has greatly outpaced the development of validated treatments. As the staggering complexity of the human genome and its yet
to be thoroughly elaborated regulatory networks
are studied during the coming decades, scientists
will identify so many potential conditions that
every person will be affected with some diagnosable, genetically influenced condition at some
point during the lifespan.
Despite these advances, medical research still
faces the daunting task of treating conditions that
have afflicted humans for thousands of years.
Walters et al. (Chap. 10) emphasize a critical
point that, despite considerable pharmaceutical
drug discovery, there is inappropriate treatment
of children with tuberculosis using adult drugs,
when children-specific drugs are needed. This
is further compounded by the elevated risk for
secondary tuberculosis among children with HIV
in the widespread African AIDS epidemic. The
pharmaceutical industry needs to focus on this
need, particularly for a disease that has been a
major killer of humans worldwide throughout
recorded history and in light of the increased
421
spread of antibiotic-resistant Mycobacterium

tuberculosis strains.
Therefore, disability research involves tens of
thousands of educational, health, medical, and
engineering specialists worldwide who address
different facets of disability. The preceding chapters provide several major focal areas by leading
experts on children with disability and special
health care needs. The reader can follow the described model programs in assisting CSHCN and/
or consult the many international public health
resources that are outlined in these chapters. Cumulatively, the reader can utilize the resources in
this handbook to further disability research and
policy advocacy in different sociocultural venues. We encourage the reader in these efforts, and
most importantly, when working with CSHCN, to
give the children and their families control over
the process, for they have the best experience and
stand to benefit most from this important work.
Reference
Stepanek, M. J. T. (2001). Journey through heartsongs.
New York: VSP Books/Hyperion.
Saint-Exupery, A. de (1943). Le petit prince. New York:
Harcourt Brace & Company.
Glossary
Abduction Movement of the eye away from the

midline
Accommodation Changes to the width of the
natural lens with resultant change in focus
Acuity Measure of visual resolution
Adduction Movement of the eye toward the
midline
Amblyopia Poor vision due to failure to attain
visual potential
Angle Iridocorneal area of drainage of aqueous
humor
Anisometropia Significant interocular difference in refractive state
Astigmatism Differing refractive powers in the
different optical planes of an eye
Auricles Outer flap of cartilage forming the
external portion of the ear
Dysmorphia Minor physical anomalies of the
size or shape of a physical feature, primarily
of the face and skull
Dysplasia Abnormality of development resulting in malformation of structures or function
of tissue
Epicanthal folds Small folds of skin present on
the inner eyelid near the nose (may be present
on upper or lower eyelid)
Esotropia Ocular misalignment in which abnormal eye is directed inward
Exotropia Ocular misalignment in which abnormal eye is directed outward
Extorsion Outward rotation of the eye
Fovea Central area of the macula with the highest density of photoreceptors: essential for
detailed acuity
Hemangioma Benign swelling or growth of

endothelial cells and blood vessels, usually
strawberry or red in color
Hypermetropia See hyperopia
Hyperopia Long-sightedness
Hypertropia Ocular misalignment in which
abnormal eye is directed upward
Hypoplasia Underdevelopment or incomplete
development of a tissue or organ
Hypotropia Ocular misalignment in which
abnormal eye is directed downward
Intorsion Inward rotation of the eye
Limbus Area where the cornea, iris and sclera
meet
LogMAR Logarithmic scale of acuityan
increase of 0.1 is 10 times better vision
Macula The central retinal area with a higher
density of photoreceptors and consequently
better resolution
Menigomyelocele Protrusion of the membranes
that cover the spine, generally associated with
spina bifida
Microcephaly Head circumference below the
third percentile of a childs age and sex
Micrognathia Underdevelopment of the lower
jaw
Myopia Short-sightedness
Occlusion therapy See penalisation therapy
Optokinetic
reflex Involuntary
refixation
movement of the eyes used to keep a fix on
moving images
Optometrist Associated specialist dealing with
refractive disorders

DOI 10.1007/978-1-4614-2335-5, Springer Science+Business Media New York 2012
423
424
Orthoptist Associated specialist dealing with

disorders of eye movement and binocular
vision
Palmar flexion crease Normal grooves across
the palm that accommodate flexing of the
hand
Palpebral fissure Horizontal opening of the
eyes
Penalisation therapy Temporary weakening of
vision in stronger eye to allow weaker eye to
strengthen in unilateral amblyopia
Petus excavtum Caved-in or sunken appearance
of the chest and sternum
Philtrum Ridge or groove running vertically
from the base of the nose to the upper lip
Prognathism Overextension of the upper or
lower jaw (ie, overbite or under bite)
Ptosis Drooping eyelid(s)
Red reflex The unobscured orange glow of light
reflected from the retina (also tapetal reflex)
Glossary
Refraction Bending light rays in order to focus

them
Resolution Discrimination between edges in
space
Retinoscopy Determination of refractive power
using the retinal reflex
Sensitive period Window of development
during which experience has an impact on
development
Strabismus Ocular misalignment
Teratogen Toxic substance that a fetus is
exposed to during the prenatal period which
causes malformation(s)
Trabecular meshwork System of drainage
sieves within the iridocorneal angle
Vermillion boarder Upper border/ridge of the
upper lip
Xerophthalmia Severely dry eye, resulting in
corneal scarring
Index
3-Methylcrotonyl coenzyme A carboxylase

deficiency, 282
A
AAC, 2431, 33, 3544
Absorptive filters, 161
Academic, 28, 40, 48, 50, 51, 55, 6063, 75, 161, 243,
359, 384, 387, 389
Accessibility, 90, 97, 98, 109, 127, 174, 175, 193, 203,
336, 371
Accommodations, 54, 58, 63, 76, 81, 82, 175, 248, 350,
359, 360, 387, 388, 413, 420
Accountable care organizations (ACOs), 414
Acquired brain injury (ABI), 342
Activities of daily living (ADL), 93, 100, 101, 145, 155,
165, 309, 347
Activity limitation, 24, 88, 94, 100, 174, 309, 322, 325,
327, 329, 330, 335, 337
Acylcarnitine, 263
ADA (dental), 175, 186
ADA (disability), 175, 312, 323
ADHD, 39, 4853, 5557, 83, 343, 344
Adherence, 55, 191, 200, 202204, 206, 207, 223, 284
Adolescents, 12, 43, 76, 202, 223, 326, 341, 345
Advocacy, 2, 12, 14, 15, 88, 98, 101, 111, 112, 175, 252,
336, 370, 421
Advocates, 2, 5, 8, 9, 11, 12, 15, 19, 20, 166, 183, 185,
186, 203, 303, 317, 381, 392, 420
Aerosolisation, 193, 194
Affordable Care Act, 13, 16, 18, 19, 173, 176, 179, 186,
400
Aggression, 29, 39, 50, 247, 291, 385, 387
Aids, 40, 41, 136, 145, 154, 157, 160, 165, 177, 355, 405
AIDS, 108, 122, 421
Alcohol, 232234, 236, 245, 246, 250, 251, 365, 376
Alcohol and other drug (AOD), 343, 356, 357, 362, 366
Alcohol, tobacco and other drugs (ATOD), 354360,
363, 364, 366
All Handicapped Children Act of 1975, 7, 312
Allostatic load, 293
AMA, 35
Amblyopia, 132, 133, 139, 147, 149, 150
American Academy of Family Physicians (AAFP), 404
American Academy of Pediatrics (AAP), 379, 404, 411

American College of Physicians (ACP), 404
American Dental Association\tSee ADA (dental), 175
American Medical Association\t See AMA, 2
American Osteopathic Association (AOA), 404
Americans with Disabilities Act\t See ADA (disability),
312
Amino acid, 260, 263, 275, 276, 278, 280282, 284, 295,
302
Amino acid conditions, 275
Amniotic band syndrome, 300
Amputation, 96
Anencephaly, 299
Anophthalmia, 299
Anotia, 300
Antiretroviral, 198, 199, 204, 206
Anxiety, 60, 62, 76, 77, 79, 80, 83, 101, 155, 165, 166,
242, 247, 327, 384, 403
Aortic valve stenosis, 298
Argininemia, 276, 278
Arginosuccinic lyase deficiency, 276, 278
Arthritis, 89, 96, 101, 218
Arthrogryposis, 96
ASL, 109, 175, 180, 358
Ataxia, 215, 217
Atrial septal defect, 298, 299
At-risk, 232, 250, 389391, 393
Atrophy, 148, 154, 221, 336
Attention, 4, 18, 29, 40, 48, 91, 95, 98, 102, 114, 137,
156, 176, 224, 233, 234, 240, 241, 283, 308, 309,
359, 363, 365, 384, 387, 392
Attention deficit hyperactivity disorder\tSee ADHD, 273
Attribution, 51, 57, 61
Audism, 108
Autism spectrum disorders (ASD), 20, 27, 29, 30, 327,
344, 376
Autoimmune, 218, 219, 283
B
BabyNet, 30
Bacille Calmette-Guerin (BCG), 197, 202, 203, 205
Bacteria, 193
Bandura, Albert, 48, 62, 291

DOI 10.1007/978-1-4614-2335-5, Springer Science+Business Media New York 2012
425
426
Barriers, 97, 117, 126, 172, 411
Basal ganglia, 217, 233, 234, 239
Behavioral, 54, 61, 62, 248, 344
Biliary atresia, 301
Biobank, 262266
Biochemical pathway, 276, 280, 281, 284, 420
Biopsychosocial, 290, 291, 420
Biotinidase, 283
Birth defect, 10, 232, 272, 293, 294, 296298, 302
Bladder extrophy, 300
Blaming, 112
Blastocyst, 295
Blindness, 140
Body mass index (BMI), 343
Bone, 92, 295297, 299, 302, 342, 348
Braille, 163, 166, 371
Brain, 233, 234, 299, 342, 364
Bully, 384, 389, 390
Bullying, 384387
C
Carbamoyl phosphate synthetase deficiency, 277
Carnegie embryonic stages, 296
Carnitine palmitoyl transferase deficiency, Type I, 280
Carnitine palmitoyl transferase deficiency, Type II, 280
Carnitine uptake defect, 280
Carnitine/Acylcarnitine translocase deficiency, 280
Cataract, 149
Centers for Disease Control and Prevention (CDC), 95,
232, 311, 321, 376
Central nervous system (CNS), 202, 214, 215, 217, 220,
225, 226, 232, 233, 235, 238, 239
Cerebellar syndrome, 215
Cerebral Palsy, 160, 342, 349
Cerebrospinal fluid, 216
Cerebrum, 299
Chickering, Arthur, 292, 293
Child, 4, 15, 16, 30, 43, 77, 310, 312
Choanal atresia, 300
Chronic Care Model, 401
Chronosystem, 384
Citrullinemia, 276, 278
Classroom, 39, 54
Cleft lip, 300
Cleft palate, 300
Clinical laboratory standards, 264
Clinical trials, 349, 375, 379
Coarctation of the aorta, 298
Cognition, 48, 62, 99, 224, 225, 323
Cognitive, 54, 224, 290, 292
Co-management, 406
Common truncus arteriosus, 298
Communication, 24, 25, 28, 30, 35, 37, 40, 126
Community, 5, 6, 9, 175, 195, 363, 379
Community-based research, 380
Comorbidity, 48, 52, 90
Competence, 5053, 56, 57
Compliance, 166, 223
Computer assisted personal interviews (CAPI), 320, 324
Computer assisted telephone interviews (CATI), 320
Index
Congenital adrenal hyperplasia (CAH), 283
Congenital hypothyroidism, 260, 282
Consanguinity, 274
Consilience, 303
Construct validity, 377
Content validity, 377
Contrast sensitivity, 134, 157
COPD, 171
Corneal, 146, 149
Corpus callosum, 217, 233, 239
Craniofacial, 174, 177, 182
Crippled, 4, 79, 14, 17
Criterion validity, 377
Cryptorchidism, 301
CSHCN, 186, 278, 280, 283285, 290, 291, 293, 302,
303, 310312, 317, 323325, 328330, 370372,
375381, 404, 409, 410, 419, 420
Cultural, 74, 99, 109, 119, 127, 292, 381, 405, 409411
Culture, 204, 205, 409, 413
Cystic Fibrosis, 283
D
Danish newborn screening, 260
Deaf, 108, 113, 116118, 122125, 127, 358
Deafness, 108, 109, 113, 117, 118, 145, 147, 283, 302,
326, 361
Decision making, 8, 389, 404, 405, 410, 413
Deconditioning, 336, 341, 347
Demyelination, 214, 215, 217, 218, 220, 221, 225, 226
Dental hygiene, 172
Depression, 3, 4, 99, 166, 226
Development (growth), 10, 12, 14, 17, 118, 302
Development (programs), 4
Developmental delay, 7, 20, 27, 44, 240, 376
Developmental disabilities, 6, 172, 173, 178, 182, 232,
246, 247, 250, 342344, 347, 348
Diabetes, 37, 148, 171, 219, 267, 347, 401
Diagnosis, 7, 150, 173, 200, 206, 234, 246, 344, 402
Diagnostic and statistical manual of mental disorders
DSM-IV, 49, 293
Diaphragmatic hernia, 300
Differentiation, 217, 242, 273, 282, 294, 295, 303
Disability, 90, 116, 225, 290, 293, 311, 312, 326, 327,
336, 337, 376, 387
Disadvantaged, 250
Discrimination, 82, 108, 114, 115, 117, 118, 122, 127,
175, 387
Dopamine, 49
Down syndrome, 31, 170, 174, 182, 232, 250, 345, 376
Dried blood spot samples (DBSS), 260, 263267
Duchenne muscular dystrophy, 420
Dysarthria, 24, 31
Dysmorphia, 236
E
Early intervention services, 166, 343, 376, 402, 407
Ebsteins anomaly, 298, 299
Education, 14, 17, 18, 39, 41, 114, 122, 123, 127, 174,
181, 184, 245, 371, 386, 413
427
Index
Education Longitudinal Study of 2002, 320
Electronic health information, 284
Encephalocele, 299
Encephalopathy, 215, 217
Endocardial cushion defect, 299
Endocrine, 234, 238, 297
Endodontist, 171
Environment, 97
Epidemiology, 15, 49, 140, 401
Epigenetics, 274
Epispadias, 301
EPSDT, 7, 11, 14, 16, 17, 173, 402, 411
Epstein-Barr virus, 219
Erikson, Erik, 290, 291, 293
Esophageal atresias, 301
Esotropia, 139
Ethnic, 142, 399, 405, 411
Ethnicity, 326, 345, 387
Ethnographic, 374, 379, 380
Exosystem, 384
Exotropia, 139
Experimental, 237, 372374
Eye, 25, 33, 36, 132, 133, 135137, 139, 144, 146, 147,
149, 150, 155, 156, 158160, 296
F
Facilitators, 97, 292, 293, 420
Family, 98, 176, 249, 284, 322, 343, 344, 354, 360, 400,
403, 404, 411
Family Educational Rights and Privacy Act (FERPA),
370
Family voices, 12, 274, 297
Family-based intervention, 393
FAS, 232, 234, 236242, 244246, 249251
Fasting, 279, 280
Fatigue, 100, 225
Fatty acid disorders, 260, 278, 280
Fear of failure, 58
Fetal alcohol spectrum disorders (FASDs), 232, 245, 252
Fetal alcohol syndrome, 232
First trimester, 294297, 303
Folic acid, 302
Fracture, 348, 349
Fragile X, 31
Freud, Sigmund, 290, 291
G
Galactosemia, 283
Gastroschisis, 300
Gastrula, 295
Gender, 345, 346
Genetic counseling, 284
Genetic testing, 265
Genetics, 261, 273, 274, 284, 285
Gibson, Eleanor, 291
Gilligan, Carol, 291
Glare, 161
Glaucoma, 149, 156, 157, 160
Global deficits, 239
Globe anomaly, 150
Glucose metabolism, 234

Glucose-6-phosphate dehydrogenase deficiency
(G6PDD), 280
Glutaric acidemia, 281
H
Health insurance portability and accountability act
(HIPAA), 370
Health resources services administration, 88, 174
Healthy people, 10, 317, 322
Hearing, 24, 108, 147, 300
Heart, 298
Heart disease, 4, 171, 412
Heath, Douglas, 292
Hemiplegia, 215
Hemoglobinopathies, 282
High school longitudinal study of 2009, 320
HIV, 108, 122, 190, 191, 194, 195, 197200, 202207,
421
Homocystinuria, 275
Hospitalization, 4, 9, 92, 194, 225, 324, 329, 348, 349,
409
Households, 15, 175, 191, 195, 197, 317, 318, 322, 324,
327, 379
Human variation, 285, 419
Hydrocephalus, 300
Hydroxymethylglutaric lyase deficiency, 282
Hyperglycemia, 346
Hyperlipidemia, 346
Hypermethioninemia, 275
Hyperopia, 146
Hyperopia\t See Refractive error, 146
Hyperornithinemia, 276, 277
Hypertension, 346
Hypertropia, 139
Hypoascorbemia, 283
Hypoplasia, 148, 154, 236, 237, 301
Hypoplastic left heart syndrome, 299
Hypospadias, 301
Hypothalamus, 234
Hypotropia, 139
I
IEP, 8, 40, 41, 44, 155, 163, 164, 166
Immune deficiency, 202, 266
Impairment, 133, 142, 155
In utero, 232236, 239, 240, 242, 243, 249252
Inborn errors of metabolism, 274
Inclusion, 172
Inclusive, 122124, 127
Independence, 90, 98
Individualized Family Service Plan (IFSP), 10, 18
Individuals with Disabilities Education Act (IDEA), 10,
39, 312
Inequality (ies), 108, 114, 116, 117, 127
Injury, 342
Insurance, 12, 13, 42, 172, 330
Intellectual disability (ID), 24, 28, 88, 173, 176, 239,
344, 345, 348
Interferon, 205, 221
428
Internal (institutional) review board (IRB), 320, 371
International Classification of Functioning, Disability,
and Health Children and Youth Version (ICF-CY),
88, 420
Isobutyryl coenzyme A dehydrogenase deficiency, 282
Isoniazid, 200, 203
Isovaleric acidemia, 281
J
Joint, 24, 91, 401, 404, 414
K
Kegan, Robert, 292, 293
Kidney, 150, 276, 280282, 295297, 301
Kohlberg, Lawrence, 291, 293
Krabbe syndrome, 284
L
Language, 24, 25, 29, 30, 37, 43, 175, 180, 358
Large intestinal atresia, 301
Large intestinal stenosis, 301
Learning disability (ies), 20, 48, 60, 77, 81, 123, 164,
232, 240, 325, 327, 329, 343, 361
Legal, 9, 19, 101, 116, 117, 178, 235, 245, 267, 357, 359,
361
Lenses, 136, 139, 147, 149, 150, 159
Limitations, 15, 24, 77, 80, 96, 108, 112, 133, 145, 154,
171, 172, 194, 220, 322, 323, 343, 358
Linguistic, 109, 115, 360, 405
Long/very long-chain acyl-coenzyme A dehydrogenase
deficiency (LCADD/VLCADD), 278, 279
Long-chain hydroxy acyl-coenzyme A dehydrogenase
deficiency (LCHAD), 278, 279
Lung, 296
Lysosomal storage disorder, 266, 267
M
Macrosystem, 384
Magnification, 159
Magnifiers, 160
Mainstreaming, 164
Malnutrition, 203
Maple syrup urine disease (MSUD), 275
March of dimes, 274, 297
Maternal, 199, 376, 402, 403, 420
Maternal and child health bureau, 12, 15, 312, 317, 318,
322, 328, 329
Medicaid, 69, 11, 13, 14, 16, 17, 41, 42, 171173, 175,
179, 180, 183186, 322, 380, 410
Medical expenditure panel survey (MEPS), 324, 325,
329, 330, 380
Medical home, 303
Medicalization, 118
Medically underserved population (MUP), 186
Medicare, 6, 13, 172, 179, 183, 322, 323
Medication, 57, 345
Medium-chain 3-ketoacyl-coenzyme a thiolase
(MCKAT) deficiency, 278, 280
Index
Medium-chain acyl CoA dehydrogenase deficiency
(MCAD), 261
Medium-chain acyl-coenzyme A dehydrogenase
deficiency (MCADD), 278, 279
Memory, 49, 54, 224, 233, 240, 248
Meningitis, 28, 204
Mental retardation, 5, 6, 82, 182, 260, 261, 275, 277,
282, 302, 348, 362, 412
Mesosystem, 384
Metabolic, 274
Metabolic pathways, 274, 276, 278, 281, 282
Methylmalonic acidemia (cblA type), 281
Methylmalonic acidemia (cblB type), 281
Microsystem, 384
Microthalmia, 299
Microtia, 300
Millennium development goals, 114116, 123, 127
Mitochondrial trifunctional protein deficiency, 278, 280
Mitochondrion, 278281
Mobility, 88, 96, 100, 164
Moral reasoning, 291
Morbidity, 50, 224
Mortality, 3, 8, 115, 140, 143, 148, 190, 191, 199, 202,
203, 265, 293, 299, 301, 348
MRI, 214, 215, 217, 218, 224, 233, 234
Multidimensional fatigue scale, 225
Multiple sclerosis, 214
Muscular dystrophy, 96
Mycobacterial, 202
Mycobacterium tuberculosis, 190, 192, 205, 421
Myelitis, 214, 215
Myopia, 146, 147
Myopia\t See refractive error, 146
N
National birth defects prevention network, 297
National Center for Biotechnology Information, 274
National Center for Birth Defects and Developmental
Disabilities, 297
National Center for Education Statistics, 311, 370
National Center for Health Statistics, 88, 173, 311, 317,
319, 322, 370, 379
National Center for Medical Home Implementation, 408
National Health and Nutrition Examination Survey
(NHANES), 331, 343
National Health Interview Survey (NHIS), 322
National Institute of Child Health and Human
Development (NICHHD), 311, 319
National Institute on Disability and Rehabilitation
Research, 341
National Longitudinal Study of Adolescent Health (Add
Health), 319
National Organization for Rare Disorders, 297
National Screening Committee (UK), 144, 261
National Survey of Children with Special Health Care
Needs (NS-CSHCN), 317, 325, 379
National Survey of Childrens Health (NSCH), 318, 325
Neonatal intensive care, 260, 400
Neurodisabilities, 204
Neuroimaging, 233
Index
Neurological, 142, 145, 239, 300
Neuromuscular, 31, 89, 92, 177, 281, 349
Neurotransmitter, 49
Newborn screening (NBS), 260, 261, 263, 264
Nitrogen metabolism, 276, 278
No Child Left Behind Act, 384
Nutrition, 197, 284, 302, 343, 344
O
Obese, 341, 342, 344, 346, 350
Obesity, 93, 337, 341, 342, 344347
Occupational therapy, 8, 164
Ocular albinism, 156, 160, 161
Omnibus Budget Reconciliation Act (OBRA), 11, 19,
404
Omphalocele, 301
Online Mendelian inheritance in man, 274, 275, 278
Ophthalmic, 132, 133, 136, 139, 144, 145, 149, 150
Ophthalmologist, 136, 138, 139, 144, 154, 245
Optic nerve, 142, 148
Optokinetic reflex, 137
Optometrist, 136, 139, 154
Oral, 31, 171, 182, 185, 187
Organic acid disorders, 281
Ornithine transcarbamylase deficiency, 276, 277
Orthodontist, 171
Orthoptists, 136
Osteoporosis, 92
Overweight, 341, 344
Oxoprolinuria, 275
P
Pain, 99, 100, 349, 357
Palpebral fissure, 236, 237
Parent, 42, 76, 77, 248
Participation, 42, 82
Patients rights, 264
Patient-centered, 184, 404
Patient-centered primary care collaborative (PCPCC),
414
Pediatric, 2, 90, 166, 178, 181, 182, 184, 221, 349
Pediatrician, 20
Perimetry, 159
Perinatal, 200
Periodontist, 171
Perry, William, 292
Personal bests, 57, 59
Phenylketonuria (PKU), 260
Philtrum, 236, 237
Photochromatic, 162
Physical disability, 96, 97, 99101, 155, 225, 321, 325,
326, 342, 343
Physician practice connections, 414
Piaget, Jean, 290
Pituitary, 148, 283, 295, 297
Plan do study act (PSDA) cycle, 408
Pneumonia, 202, 204
Policy, 13, 14, 19, 20, 116, 251, 284, 285, 330, 343,
403406, 408, 410, 411
429
Postnatal, 132, 296
Poverty, 6, 186, 191, 196, 329, 330
Pregnancy, 376
Premoral stage, 291
Preoperational, 290
Prescription, 15, 30, 31, 136, 247, 275, 302, 310, 323,
330, 356, 357, 365
Pressure sores, 91
Prevalence, 15, 48, 88, 250, 277, 324, 325, 343345, 347
Prevention, 8, 143, 192, 193, 196198, 200, 203, 204,
245, 350, 355, 359361, 366, 390
Prevention through Alternative Learning Styles(PALS)
Program, 362366
Programs, 12, 16, 166, 249, 261, 342, 389
Pulmonary valve atresia, 298, 299
Pulmonary valve stenosis, 298, 299
Pulmonology, 400, 405
Pupillary, 137
Q
Quality, 63, 77, 79, 82, 91, 99, 122, 123, 174, 225, 226,
311, 403, 407, 408, 414
Quality of life (QoL), 74, 7783
Questionnaire for identifying children with chronic
conditions, 310
R
Race, 326
Rectal atresia, 301
Rectal stenosis, 301
Refractive error, 146
Reinforcer, 384
Reliability, 51, 79, 310, 372, 377
Renal agenesis, 301
Renal hypoplasia, 301
Research, 26, 29, 37, 51, 52, 59, 61, 63, 182, 233, 247,
249, 266, 302, 354, 356, 358, 360, 371, 372, 374,
375, 378, 381
Respiratory, 348
Response to intervention (RtI), 389
Retina, 132, 135, 138, 146, 159, 296
Retinal disorders, 147
Retinoblastoma, 148
Retinopathy of prematurity (ROP), 144, 147, 148
Retinoscopy, 159
Rights, 15, 82, 95, 108, 115, 116, 118, 119, 123, 125,
127, 175, 370
Risk, 215, 251, 311, 312, 342, 348, 356, 376
Ritalin, 76, 83
S
Safe school initiative, 386
School, 41, 123, 124, 127, 144, 181, 225, 320, 342344,
357, 363
Scotoma, 156
Screening, 7, 144, 173, 260264, 274, 376, 402
Second trimester, 297
Secondary conditions, 90, 337, 349, 350
Self concept, 48, 50
430
Self-esteem, 96
Self-worth, 52, 53, 57
Sensitivity (statistics), 217, 218
Sensorimotor, 290
Serotonin, 49, 234, 295
Sheppard Towner Act, 3, 5
Short-chain acyl-coenzyme A dehydrogenase deficiency
(SCADD), 278, 279
Short-chain hydroxy acyl-coenzyme A dehydrogenase
deficiency (SCHADD), 278, 279
Sickle cell anemia, 37
Sign language, 31, 108110, 113, 115117, 119, 124,
125, 127, 405
Skinfold, 93, 346
Skinner, B.F., 61, 292
Snellen eye chart, 133, 155
Social, 6, 82, 90, 116, 165, 197, 226, 241, 244, 291, 320,
337, 357, 358, 378, 385, 391
Social competence, 358
Social isolation, 97, 117, 341, 347
Social security, 250, 312, 323
Social Security Act, 24, 7, 311, 380
Social-ecological framework, 384, 385, 389
Special education, 27, 40, 321, 323, 327, 329, 343, 362,
363, 376, 387, 389
Speech, 24, 25, 400
Speech-language pathology, 24, 44
Spina bifida, 89
Sputum, 193, 194, 205
SSRI, 247
Standards for educational and psychological testing, 371
Stargardts disease, 156
State and local area integrated telephone survey
(SLAITS), 317, 318
State Childrens Health Insurance Program (SCHIP), 13
Stigma, 89, 100, 108
Storage policy, 264
Stress, 90
Substance abuse, 354
Suicidal, 311, 384
Suicide, 50, 76, 325327, 343
Symptoms, 49, 55, 275, 277283, 299
T
Tandem mass spectrometry, 266
TB, 190197, 199, 200, 202207
Teacher, 58, 63, 76, 145, 155, 359, 360, 384, 390
Teamlet model, 401
Telescopes, 160
Teratogen, 232, 236, 251
Test of gross motor development, 346
Tetralogy of Fallot, 298, 299
Thallasemia, 282
Third trimester, 296, 297
Title V, 211, 13, 14, 16, 17, 19, 311, 317, 319, 380, 404
Tobacco, 365
Toxoplasmosis, 265
Tracheoesophageal fistula, 301
Index
Tracheostomy, 24
Transgenerational, 274, 294
Transposition of the great arteries, 298
Traumatic brain injury (TBI), 31, 337
Treatment, 53, 56, 92, 94, 147, 149, 150, 199, 206, 221,
222, 246, 277, 281, 283, 402
Tricuspid valve atresia and stenosis, 298, 299
Trisomy 13, 302
Trisomy 18, 302
Trisomy 21 (Downs syndrome), 147
Trisomy 21 (Downs syndrome), 302
Trophoblast, 295
Tuberculin skin test, 202, 205
Tuberculosis, 190, 193
Tyrosinemia, 275, 276
U
U.S. Census Bureau, 88
U.S. Department of Education, 311, 341
UN Convention on rights of persons with disabilities, 95
UNESCO, 122, 123
UNICEF, 123
Uniform screening panel (US), 261
Universal ethical principles, 291
Urea cycle, 276278
Uveal disorders, 150
V
Vaccine, 197, 202, 207
Validity, 372, 377
Varicella Zoster virus, 219
Ventricular septal defect, 298
Vermillion, 236, 237
Victimization, 384, 385
Vision, 31, 132, 155, 159, 163
Visual, 133, 137, 138, 140, 142, 145, 155, 156, 158, 163,
165, 166, 241
Visual acuity, 133, 135, 155, 156, 159, 165
Visual field, 134, 137, 158
Visual rehabilitation, 155
Vitamin A, 143, 154
Vitamin D, 219
Vygotsky, Lev, 60, 291
W
Weight, 55, 83, 9294, 142, 204, 223, 238, 297, 302,
341344, 347, 348, 378
Wellness, 350, 407
Wilson, Edward O, 290, 292
World Health Organization (WHO), 74, 88, 110
Y
Youth Risk Behavior Surveillance System (YRBSS), 321
Z
Zero tolerance policy, 390

Handbook of Children With Special Health Care Needs

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Handbook of Children with Special

Health Care Needs

ISBN 978-1-4614-2334-8 ISBN 978-1-4614-2335-5 (eBook)

disabilities starting with Irma M. Munoz-Baell, Carlos Alvarez-Dardet,

through alternative learning styles (PALS) curriculum. I had the privilege of

Jacquelyn Bertrand, MD, Ph.D. is a child psychologist with the Centers

and a Bachelors degree in Education from Bowling Green State University in

tion Research (NIDRR)-funded Rehabilitation Research and Training Center

of Adulthood Program Information System (TAPIS), Transition Evaluation

Theresa Mayer, M.Ed. is a consultant with the PALS program at SARDI,

Carol A. Page, Ph.D. is the Director of the South Carolina Assistive

University of Illinois at Urbana-Champaign. His research focuses on unique

Diagnostician Association. She also represents college teachers as the Vice

fellow of the American Academy of Pediatrics and the AAP Subcommittee

Policy: Its History, Intentions,

D. Hollar (ed.), Handbook of Children with Special Health Care Needs,

tific knowledge, advocacy on the part of various

ciety in 1888, serving as its first president and,

in promoting the interests of children prevailed,

1.3Policy Takes Shape

women the right to vote and members feared that

1.3.2Maternal and Child Health

rectly to states, for demonstration projects to be

1.3.3Aid to Dependent Children,

pendent Children, was designed to provide cash

population of women and children (Alexander

1.3.6Medicare, Medicaid, and

were made at the same time as the laws creating

Children and Families 2010; Stubbs 1994). In

1.3.8Early Periodic Screening,

1.3.9Supplemental Security Income,

1.3.10PL 94-142, Education

designed to meet the childs needs and related

from urging more services, better coordination,

available in the community nor easily accessed

1.3.13Medicaid Home and

1.3.14From Crippled Children to

ing categorization and fragmentation of services

1.3.15PL 99-457, Reauthorization

required to establish interagency coordinating

with its overall intent. Not until Healthy People

and the Secretary of the Department of Health

challenge physicians willing to provide medical

1.3.19Healthy People 2010

shift has been noted by the inclusion of the word

1.3.21State Childrens Health

health care coverage for children. Designed as a

1.3.22Patient Protection and

1.4.1Defining the Population

By 1981, the Select Panel for the Promotion

1.4.2The Epidemiology of Children

digit dial household survey uses a screener to

1.4.3States Rights and the Rights

ing basic rights, services or standards given the

1.4.4Categorical (Vertical) Programs

must negotiate an overly complex labyrinth of

dividualized care plan developed with the parents

rights, individual rights to autonomy and medical

1.5Future Avenues for Policy

care centers and related public programs (Ireys

Though now nearly 25 years old, this call for

Walker, D. K. (1994). Prevalence of medical technology assistance among children in Massachusetts

Severe Communication Disorders

Carol A. Page and Patricia D. Quattlebaum

1.3Policy Takes Shape

1.3.2Maternal and Child Health

1.3.3Aid to Dependent Children,

1.3.6Medicare, Medicaid, and

1.3.8Early Periodic Screening,

1.3.9Supplemental Security Income,

1.3.10PL 94-142, Education

1.3.13Medicaid Home and

1.3.14From Crippled Children to

1.3.15PL 99-457, Reauthorization

1.3.19Healthy People 2010

1.3.21State Childrens Health

1.3.22Patient Protection and

1.4.1Defining the Population

1.4.2The Epidemiology of Children

1.4.3States Rights and the Rights

1.4.4Categorical (Vertical) Programs

1.5Future Avenues for Policy

AAC Augmentative and Alternative Communication

2.1.3The Impact of AAC on Speech

2.3Diagnoses Associated with

2.3.3.1Autism and Intellectual

2.3.4Identification and Assessment

2.3.5Healthcare Providers Roles and

2.3.6SLPs Assessment Roles and

2.3.6.5Vision and Hearing

2.6Standardized Tests, Observation,

2.6.2Prognosis for Success

2.6.3Stable Versus Progressive

2.7.1Vocabulary Selection for an AAC

2.7.3Writing Individualized Education

2.7.4SLPs Intervention Roles

2.7.4.4Funding and Letters of Medical