Académique Documents
Professionnel Documents
Culture Documents
David Hollar
Editor
Handbook of Children
with Special Health Care
Needs
1C
Editor
David Hollar
University of North Carolina
Chapel Hill
NC, USA
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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Preface
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Preface
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
with Special Health Care Needs 169
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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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
with Special Health Care Needs 271
David Hollar
15 D
evelopment from Conception through Adolescence:
Physiological and Psychosocial Factors Impacting Children
with Special Health Care Needs 289
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
with Special Health Care Needs 369
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
with Special Health Care Needs 399
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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Author Information
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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
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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
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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-
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
1 Policy: Its History, Intentions, and Consequences for Children with Special Health Care Needs
D. Petersen
1 Policy: Its History, Intentions, and Consequences for Children with Special Health Care Needs
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).
D. Petersen
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
1 Policy: Its History, Intentions, and Consequences for Children with Special Health Care Needs
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
1 Policy: Its History, Intentions, and Consequences for Children with Special Health Care Needs
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
10
D. Petersen
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
1 Policy: Its History, Intentions, and Consequences for 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
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
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
1 Policy: Its History, Intentions, and Consequences for Children with Special Health Care Needs
13
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.
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.
1 Policy: Its History, Intentions, and Consequences for Children with Special Health Care Needs
15
16
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 Policy: Its History, Intentions, and Consequences for Children with Special Health Care Needs
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
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
1 Policy: Its History, Intentions, and Consequences for Children with Special Health Care Needs
19
20
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Abstract
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24
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.
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
Receiver:
Shared Meaning
Expressive
Receptive
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.
26
Table 2.1 Spoken language development versus supporting language development using AAC
Language Learning
Attribute
Timing
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
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
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
28
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
30
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
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
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
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
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
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
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
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-
35
36
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.
2.6.2.1Extrinsic Indicators
Children with severe communication disorders
need considerable support from family, school
staff, and therapists to learn new communica-
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
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
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-
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.
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.
2.7.4.1Creating/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-
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
42
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-
43
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.
44
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.
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Attention-Deficit/Hyperactivity
Disorder (ADHD), Perceived
Competence, and Self-Worth:
Evidence and Implications for
Students and Practitioners
Andrew J. Martin
Abstract
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
3.2.2Epidemiology
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
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).
A. J. Martin
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
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.
A. J. Martin
53
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
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).
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).
56
A. J. Martin
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
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
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
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.
60
A. J. Martin
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.
61
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
A. J. Martin
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
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)
1. TEACHER (WHO)
2. MESSAGE/TASK (WHAT)
3. TEACHING (HOW)
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
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
(Relationship between student and
subject matter)
WHAT
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
Pedagogical Relationship
(Relationship between student and
teaching)
HOW
65
Appendix
PERSONAL BEST (PB) INDEX
(Reproduced with permission from A.J. Martin (2010). Building Classroom Success. London: Continuum)
Name
Year
Class
Date
2 Points
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
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
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
TOTAL PB INDEX
/ 10
(Previous PB Index
/ 10)
7-9 Points
2.
66
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Abstract
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
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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).
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).
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).
77
78
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).
79
80
S. Karande
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).
81
82
S. Karande
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
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.
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85
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
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
D. Hollar (ed.), Handbook of Children with Special Health Care Needs,
DOI 10.1007/978-1-4614-2335-5_5, Springer Science+Business Media New York 2012
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.
89
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.
91
92
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).
93
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).
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
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
97
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
99
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).
101
102
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Abstract
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
D. Hollar (ed.), Handbook of Children with Special Health Care Needs,
DOI 10.1007/978-1-4614-2335-5_6, Springer Science+Business Media New York 2012
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Abbreviations
CRPD
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.
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
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I. M. Munoz-Baell et al.
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.
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.
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I. M. Munoz-Baell et al.
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
113
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.
I. M. Munoz-Baell et al.
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
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I. M. Munoz-Baell et al.
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.
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I. M. Munoz-Baell et al.
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
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Asia Pacific Disability Rehabilitation Journal 16(1):1640
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
119
Table 6.5 Some ways in which bilingual education benefits deaf learners
120
I. M. Munoz-Baell et al.
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
122
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-
I. M. Munoz-Baell et al.
lation to persons with disabilities access to quality education (UNESCO 1994, 2004a, b).
123
124
I. M. Munoz-Baell et al.
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
125
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
I. M. Munoz-Baell et al.
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.
127
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Abstract
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
D. Hollar (ed.), Handbook of Children with Special Health Care Needs,
DOI 10.1007/978-1-4614-2335-5_7, Springer Science+Business Media New York 2012
131
132
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-
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
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
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)
7.2.1.2Contrast Sensitivity
Contrast sensitivity is the ability to discriminate
between areas of different luminance, such that
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)
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)
2 (Low vision)
3 (Blindness)
4 (Blindness)
5 (Blindness)
Light perception
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.
Visual Field
(around central
fixation)
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
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
139
Innervation
Oculomotor nerve
Oculomotor nerve
Abducens nerve
Oculomotor nerve
Trochlear nerve
Oculomotor nerve
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
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%
0.08%
0.08%
0.08%
0.06%
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.
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
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
Optic nerve and cerebral
disease (meningitis)
Corneal scarring, optic nerve
and cerebral disease (meningitis, TB, malaria), cataract
(congenital rubella)
Optic nerve and cerebral
disease (meningitis)
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
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
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)
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
15%
4%
6%
6%
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.
7.5.1.2Vitamin 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
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
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.
146
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):
147
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 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
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-
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
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.
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Abstract
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
D. Hollar (ed.), Handbook of Children with Special Health Care Needs,
DOI 10.1007/978-1-4614-2335-5_8, Springer Science+Business Media New York 2012
153
154
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
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
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.
156
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-
157
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
Nystagmus
Diabetic retinopathy
Glaucoma
Hemianopsia
Optic atrophy
Optic nerve
hypoplasia
Pathological myopia
Retinitis pigmentosa
Retinopathy of prematurity (ROP)
Nystagmus
Dependent on severity
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
158
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
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-
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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
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.
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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.
8.3.1Role 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
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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
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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
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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.
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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
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
D. Hollar (ed.), Handbook of Children with Special Health Care Needs,
DOI 10.1007/978-1-4614-2335-5_9, Springer Science+Business Media New York 2012
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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.
9 Oral Health Access Issues for Children with Special Health Care Needs
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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.
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 Oral Health Access Issues for Children with Special Health Care Needs
173
States
Responding (total
51 states)
44
40
38
31
13
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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
9 Oral Health Access Issues for Children with Special Health Care Needs
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
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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
9 Oral Health Access Issues for Children with Special Health Care Needs
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.
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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.
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
9 Oral Health Access Issues for Children with Special Health Care Needs
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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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-
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
9 Oral Health Access Issues for Children with Special Health Care Needs
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.
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9 Oral Health Access Issues for Children with Special Health Care Needs
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:
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
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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.
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.
9.6.4Dental Homes
The American Academy of Pediatric Dentistry
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 Oral Health Access Issues for Children with Special Health Care Needs
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.
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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 Oral Health Access Issues for Children with Special Health Care Needs
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
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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.
10
Abstract
189
190
E. Walters et al.
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
191
192
E. Walters et al.
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
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.
194
E. Walters et al.
195
196
E. Walters et al.
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
197
198
E. Walters et al.
Prolonged exposure
Contact with adult with cavitatory disease (pulmonary TB with lung cavities,
in which TB bacilli actively multiply
and can be coughed up)
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
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
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.
201
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
202
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.
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
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.
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.
205
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.
E. Walters et al.
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
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
208
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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
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214
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
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.
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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-
217
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
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
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
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223
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).
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
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
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.
Y. Mikaeloff
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12
Abstract
231
232
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
12 Fetal Alcohol Spectrum Disorders: Review of Teratogenicity, Diagnosis and Treatment Issues
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
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-
12 Fetal Alcohol Spectrum Disorders: Review of Teratogenicity, Diagnosis and Treatment Issues
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
Task Force on Fetal Alcohol Syndrome and Fetal
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
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).
12 Fetal Alcohol Spectrum Disorders: Review of Teratogenicity, Diagnosis and Treatment Issues
237
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-
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.
12 Fetal Alcohol Spectrum Disorders: Review of Teratogenicity, Diagnosis and Treatment Issues
239
240
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
12 Fetal Alcohol Spectrum Disorders: Review of Teratogenicity, Diagnosis and Treatment Issues
241
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
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
12 Fetal Alcohol Spectrum Disorders: Review of Teratogenicity, Diagnosis and Treatment Issues
243
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.
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
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-
12 Fetal Alcohol Spectrum Disorders: Review of Teratogenicity, Diagnosis and Treatment Issues
245
246
12 Fetal Alcohol Spectrum Disorders: Review of Teratogenicity, Diagnosis and Treatment Issues
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).
12 Fetal Alcohol Spectrum Disorders: Review of Teratogenicity, Diagnosis and Treatment Issues
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
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).
12.5.1Prevalence
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
12 Fetal Alcohol Spectrum Disorders: Review of Teratogenicity, Diagnosis and Treatment Issues
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
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.
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13
Abstract
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
D. Hollar (ed.), Handbook of Children with Special Health Care Needs,
DOI 10.1007/978-1-4614-2335-5_13, Springer Science+Business Media New York 2012
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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.
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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.
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.
264
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).
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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.
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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
D. Hollar (ed.), Handbook of Children with Special Health Care Needs,
DOI 10.1007/978-1-4614-2335-5_14, Springer Science+Business Media New York 2012
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 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).
273
274
D. Hollar
14.2.2Human Uniqueness
14.2.5Epigenetics
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 Genetic and Metabolic Conditions for Children with Special Health Care Needs
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
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
Enzyme C
Amino
Acid D
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
14 Genetic and Metabolic Conditions for Children with Special Health Care Needs
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)
278
D. Hollar
279
14 Genetic and Metabolic Conditions for Children with Special Health Care Needs
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
Hydroxyacyl-Coenzyme A
Trifunctional
Protein
3. HydroxyacylCoA
Dehydrogenase
4. Beta
Ketothiolase
Ketoacyl-Coenzyme A
Acetyl-Coenzyme A
Energy
Generating
Pathways
280
D. Hollar
14 Genetic and Metabolic Conditions for Children with Special Health Care Needs
281
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
(McKusick 1966, 1990, 1998; www.ncbi.nim.
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;
McKusick 1966, 1990, 1998; www.ncbi.nim.nih.
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).
14 Genetic and Metabolic Conditions for Children with Special Health Care Needs
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
D. Hollar
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-
14 Genetic and Metabolic Conditions for Children with Special Health Care Needs
285
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287
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
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
D. Hollar (ed.), Handbook of Children with Special Health Care Needs,
DOI 10.1007/978-1-4614-2335-5_15, Springer Science+Business Media New York 2012
289
290
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
291
292
D. Hollar
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.
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
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
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
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
15.4Birth 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.
D. Hollar
Table 15.1 Major birth defects tracked by the National
Birth Defects Prevention Network
Heart
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).
300
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
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
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
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).
D. Hollar
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
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16
Abstract
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
D. Hollar (ed.), Handbook of Children with Special Health Care Needs,
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308
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
16.1.1Case Definition
Identifying children and youth with SHCN or
disabilities in national surveys presents certain
309
310
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
16 Using Population-Based Survey Data to Monitor the Health of Children and Youth
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.
311
312
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:
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)
Parent or other adult
in household who is
familiar with childs
health
Telephone interview
(CATI)
Parent or other adult
in household who is
familiar with childs
health
Telephone interview
(CATI)
Mode of
administration
Longitudinal
Cross-sectional
Cross-sectional
Cross-sectional
U.S. population
U.S. population
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
Longitudinal
Students enrolled in
Cohort of individuals
8th grade
who were students in
grades 712 during
19941995 school year
NELS:88
National Center for
Education Statistics,
Institute of Education Sciences, U.S.
Department of
Education
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
16 Using Population-Based Survey Data to Monitor the Health of Children and Youth
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
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
W. Horner-Johnson and K. Newton
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.
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
16 Using Population-Based Survey Data to Monitor the Health of Children and Youth
315
Information
sources
YRBSS
Dataset
National datasets
description downloadable from
CDC website in
ASCII, SPSS, SAS,
and Access formats.
Contact sites to
request state or local
data
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
NSCH
Microdata files with
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
Microdata files with
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
W. Horner-Johnson and K. Newton
16 Using Population-Based Survey Data to Monitor the Health of Children and Youth
16.3Child-Focused Surveys
317
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
318
16 Using Population-Based Survey Data to Monitor the Health of Children and Youth
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
320
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
16 Using Population-Based Survey Data to Monitor the Health of Children and Youth
321
322
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-
16 Using Population-Based Survey Data to Monitor the Health of Children and Youth
323
324
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
16 Using Population-Based Survey Data to Monitor the Health of Children and Youth
325
326
16 Using Population-Based Survey Data to Monitor the Health of Children and Youth
327
328
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-
16 Using Population-Based Survey Data to Monitor the Health of Children and Youth
329
330
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-
16 Using Population-Based Survey Data to Monitor the Health of Children and Youth
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Secondary Conditions
in Youth with Disabilities
17
Jennifer L. Rowland
Abstract
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
D. Hollar (ed.), Handbook of Children with Special Health Care Needs,
DOI 10.1007/978-1-4614-2335-5_17, Springer Science+Business Media New York 2012
335
336
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
337
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-
Maano 2011
De etal. 2008
Population
N=dependent on survey; diagnosis: range of
disabilities (physical and intellectual);
age: dependent on survey
Reference
Rimmer etal. 2007
Data
Analysis of multiple studies: 19992002
National Health and Nutrition Examination Survey (NHANES), 2005 Youth Risk
Behavior Survey
Review of 38 studies
Obesity; overweight
Overweight; obese
Overweight
Overweight
Overweight; obesity
Overweight; underweight
Overweight; obesity
Secondary conditions
Overweight; obesity
338
J. L. Rowland
Data
Secondary conditions
Obesity
Surveys were given at nine self-contained
special education schools in central Scotland
in 1997
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
Population
N=14,947; diagnosis: cerebral palsy;
age: 018 years
Reference
Murphy etal. 2006
Pain
Secondary conditions
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).
341
342
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.
343
344
J. L. Rowland
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
346
J. L. Rowland
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
348
of secondary conditions in youth with disabilities. Those articles are described here and are
also referenced in Table17.1.
J. L. Rowland
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.
349
350
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.
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18
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
353
354
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
355
Principle
Seven
Principle
Eight
Principle
Nine
Principle
Ten
Principle
Eleven
Principle
Twelve
Principle
Thirteen
Principle
Fourteen
Principle
Fifteen
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.
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,
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.
18.3.5Enabling
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
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).
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.
359
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.
J. A. Ford et al.
361
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
J. A. Ford et al.
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
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.
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
366
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.
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Research Methods
and Epidemiology for Children
with Special Health Care Needs
19
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;
David_Hollar@att.net
A. Karpur
Employment and Disability Institute, ILR School,
Cornell University, 16E 34th ST, New York,
NY 10016, USA
e-mail: ak564@cornell.edu
D. Hollar (ed.), Handbook of Children with Special Health Care Needs,
DOI 10.1007/978-1-4614-2335-5_19, Springer Science+Business Media New York 2012
369
370
Abbreviations
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-
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
371
372
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
19 Research Methods and Epidemiology for Children with Special Health Care Needs
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
374
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-
19 Research Methods and Epidemiology for Children with Special Health Care Needs
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
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-
19 Research Methods and Epidemiology for Children with Special Health Care Needs
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
378
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.
19 Research Methods and Epidemiology for Children with Special Health Care Needs
379
380
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
19 Research Methods and Epidemiology for Children with Special Health Care Needs
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.
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20
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
383
384
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
386
C. A. Rose et al.
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
20 Addressing Bullying Among Students with Disabilities Within a Multi-Tier Educational Environment
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 Addressing Bullying Among Students with Disabilities Within a Multi-Tier Educational Environment
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.
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 Addressing Bullying Among Students with Disabilities Within a Multi-Tier Educational Environment
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.
20 Addressing Bullying Among Students with Disabilities Within a Multi-Tier Educational Environment
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
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21
Abstract
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
D. Hollar (ed.), Handbook of Children with Special Health Care Needs,
DOI 10.1007/978-1-4614-2335-5_21, Springer Science+Business Media New York 2012
399
400
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.
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
Fig. 21.1 Chronic care model for child health in a medical home
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).
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 Building a Medical Home for Children and Youth with Special Health Care Needs
403
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
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.
21 Building a Medical Home for Children and Youth with Special Health Care Needs
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
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;
21 Building a Medical Home for Children and Youth with Special Health Care Needs
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
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).
21 Building a Medical Home for Children and Youth with Special Health Care Needs
409
410
21 Building a Medical Home for Children and Youth with Special Health Care Needs
411
412
21 Building a Medical Home for Children and Youth with Special Health Care Needs
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
414
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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.
419
420
D. Hollar
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
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Glossary
423
424
Glossary
Index
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
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