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Growth and Development

YARSI SCHOOL OF MEDICINE


WAN NEDRA

Evaluating for Developmental Delay


An estimated 12-16% of children have a developmental

and/or behavior disorder


Only 30% are identified before school entrance
Those detected after school entrance miss out on early
intervention services proven to have long term health
benefits
Pediatricians are the primary professional with whom
families have contact during a childs first five years of life
Early identification by primary care providers of
developmental delays leads to early referral for evaluation
and treatment

Introduction
Developmental Disability/Delay (DD) is

present when functional aspects of a childs


development in one or more domains
(gross/fine motor, speech/language, cognition,
social/personal, and activities of daily living) are
significantly delayed compared to the
expected level for age (25% from the expected
rate or a discrepancy of 1.5 to 2 standard deviations
from the norm)

Introduction
Global Developmental Delay (GDD) is a

subset of DD defined as significant delay in


two or more developmental domains
(reserved for children less than 5 years old)

Surveillance and Screening


Surveillancethe identification of risk factors for

DD
Should be performed at all well child visits
Includes:
Attending to parental concerns
Obtaining relevant developmental history
Making accurate observations of the child
Sharing concerns with other professionals
Maintaining record of findings
Provides the context for screening tests

Surveillance and Screening


Evidence based surveillance

Psychosocial risks can be evaluated with measures such


as the Family Psychosocial Screen (FPS)

~15 minutes
4 risk factors are associated with DD

Parental Concerns can be evaluated with measures such


as the Parents Evaluation of Developmental Status
(PEDS)

10 questions, ~2minutes
Scores indicate if a child is at high, moderate, or low risk for DD

Surveillance and Screening


Medical Evaluation

Presence of biologic risks or medical problems associated with DD


Head circumference for micro/macrocephaly
Weight and height for growth deficiency
Dysmorphology (minor and major congenital abnormalities)
Eye exam for poor tracking, strabismus, etc
Ear exam for recurrent/chronic OM
Abdomen for HSM (metabolic disease)
Skin for neurocutaneous lesions
Neurologic exam for reflexes, tone, symmetry, strength

Surveillance and Screening


Screeningbrief, formal, standardized evaluation

for early identification of deviations from normal


development
Determines if additional investigation warranted
Not diagnostic
Screening should have established psychometric qualities
(precision, accuracy, etc.)
Easy to perform and interpret, inexpensive, and
acceptable to child/parents

Surveillance and Screening


AAP recommends formal screening at 9, 18, and

24 or 30 months, and if concerns raised by


parent/physician during routine surveillance
AAP also recommends all 18 month olds be
screened with an autism-specific tool

Surveillance and Screening


Screening Tests:

Parents Evaluation of Developmental Status


(PEDS)
Ages and Stages Questionnaires (ASQ)

Infant-Toddler Checklist for Language and


Communication

~15 minutes, by the parent


Generates a pass/fail score in four development domains

~5-10 minutes, by the parent


Identifies scores 1.25 SD below normal

Brigance Screens-II

Surveillance and Screening


Screening Tests

Bayley Infant Neurodevelopmental Screener Test

Direct examination
Scores identify high, moderate, and low risk for DD

Denver Developmental Screening Test-II (DDST-II)

Direst examination
Identifies risk category: normal, questionable, abnormal

Surveillance and Screening


Screening Tests (Behavioral)

Children with undetected DD often present with behavioral


issues
Eyberg Child Behavior Inventory/Sutter-Eyberg Student Behavior
Inventory
Pediatric Symptom Checklist (PSC)
Parents Evaluation of Developmental Status (PEDS)
Ages and Stages Questionnaires: Social Emotional (ASQ:SE)
Brief Infant-Toddler Social-Emotional Assessment (BITSEA)
Conners Rating Scale-Revised Long Form (CRS-R)
Modified Checklist for Autism in Toddlers (M-CHAT)
Vanderbilt ADHD Parent Rating Scale (VADPRS)

Surveillance and Screening


Outcomes of screening

Normal development and few psychosocial risks


continue routine care
Low-Average development and psychosocial risks , but
pass screeningclose surveillance
Failing a screening testthese children need additional
assessment/evaluation

Referral for diagnostic evaluation/early intervention services


Results of parent-completed tool are adequate for referral

Evaluation and Diagnosis


Developmental intervention

Children 0-36 monthsagencies (usually state run, i.e. Early


Steps) determine if children with suspected/diagnosed DD qualify
for services
Multidisciplinary
Speech and Language Pathologist
Occupational and Physical Therapy
Social Worker
Psychological evaluation if needed
Focus on need for services rather than diagnosis

Evaluation and Diagnosis


Developmental intervention
Children 3-5 yearspreschool special education services are
available (i.e. Headstart)

Continued servicesmay be in or out of classroom

Children older than 5 yearsreferrals usually made through


public school system
Private evaluations/services are also available

Evaluation and Diagnosis


Children who fail developmental screening may

need further medical evaluation

Evaluation for iron deficiency anemia


Evaluation for lead poisoning (if risk factors for lead
poisoning present)
Formal hearing testing (BAER)
Vision testing (full ophthalmologic exam)
Thyroid function testing (if no NBS, or signs of thyroid
disease)
Metabolic screening (if abnormal or no NBS)
Neuroimaging (MRI vs CT)

Evaluation and Diagnosis


Children who fail developmental screening may

need further medical evaluation

Chromosomal/Cytogenetic Testing (if +family history)

Down Syndrome (karyotype), Fragile X (FMR1), Rett


Syndrome(MECP2), Prader-Willi/Angelman (FISH)

EEG if suspected seizure activity/encephalopathy


(Landau-Kleffner)
CPK/Aldolase if abnormal muscle tone (Muscular
dystrophy)

Other diagnoses
Mental Retardation (MR)a state of functioning

beginning in childhood characterized by limitations in


intelligence and adaptive skills
DSM-IV Criteria for MR:

Significant sub-average intellectual functioning


Adaptive functioning deficit or impairment
Onset before 18 years of age

Cognitive impairment requires IQ testing (accurate for ages

5 years)

Mild50 to 70 IQ ( 70 is 2 SD from normal100)


Moderate40 to 50
Severe20 to 40
Profound<20

Other diagnoses
Adaptive skillsskills of daily living needed to live, work,

and play in the community

Communication, social skills, self-care, home living, reading, writing,


mathematics, work, leisure, health and safety
Considered impaired when there is a deficit in two or more areas

American Association on Mental Retardation (AAMR) also

has a similar definition of MR, but also describes supports


needed (intermittent, limited, extensive, or pervasive)
The terms GDD and MR are not interchangeable

Other diagnoses
Prevalence of MR in general population is 1-3%
Intellectual testing
Weschler Preschool and Primary Scale of Intelligence
(WPPSI)
Weschler Intelligence Scales for Children (WISC-III)
Stanford-Binet Intelligence Scale
Kaufman Assessment Battery for Children
McCarthy Scales of Childrens Abilities
Differential Ability Scales
Leiter International Performance Scales

Other diagnoses
Adaptive Testing

Vineland Adaptive Behavior Scales


AAMR Adaptive Behavior Scales
Woodcock-Johnson Scales of Independent Behavior

Other diagnoses
Prognosis for MRdependent on severity:

Mildcan be taught to read/write, live independently


and hold jobs as adults
Moderateprobably will not learn to read/write, but
may live/work in semi-independent supervised settings
Severe/profoundrequire substantial lifelong support
Also dependent on etiology of MR and co-morbid
conditions

Other diagnoses
Autism Spectrum

Disorders (ASD)

Neurodevelopmental
disorders characterized by
impairments in three
domains:
Socialization
Communication
Behavior

Includes:

Autistic disorder
Asperger disorder
Rhetts disorder
Childhood
Disintegrating
disorder
Pervasive
developmental
disorder, not
otherwise specified
(PDD-NOS)

Other diagnoses
Autism Spectrum Disorders

Occurs in ~1 in 150 to 1 in 500 children


Increasing incidence since 1970sdue to increased
awareness/changes in case definition
MR /seizures common
Pathogenesis incompletely understood
Overwhelming evidence does not support association with
immunizations and autism

Other diagnoses
Autistic disorderDSM-IV Criteria:
A total of six (or more) items from (1), (2), and (3), with at
least two from (1), and one each from (2) and (3):

Qualitative impairment in social interaction, as manifested by


at least two of the following:

1.

Marked impairment in the use of multiple nonverbal behaviors


such as eye-to-eye gaze, facial expression, body postures, and
gestures to regulate social interaction

Failure to develop peer relationships appropriate to


developmental level

A lack of spontaneous seeking to share enjoyment, interests, or


achievements with other people (eg, by a lack of showing,
bringing, or pointing out objects of interest)

Lack of social or emotional reciprocity

Other diagnoses
2.

Qualitative impairments in communication as manifested


by at least one of the following:

Delay in, or total lack of, the development of spoken language (not
accompanied by an attempt to compensate through alternative
modes of communication such as gesture or mime)

In individuals with adequate speech, marked impairment in the


ability to initiate or sustain a conversation with others

Stereotyped and repetitive use of language or idiosyncratic


language

Lack of varied, spontaneous make-believe play or social imitative


play appropriate to developmental level

Other diagnoses
3.

Restricted repetitive and stereotyped patterns of behavior,


interests, and activities, as manifested by
at least one of
the following:

Encompassing preoccupation with one or more stereotyped and


restricted patterns of interest that is abnormal either in intensity
or focus

Apparently inflexible adherence to specific, nonfunctional


routines or rituals

Stereotyped and repetitive motor mannerisms (eg, hand or finger


flapping or twisting, or complex whole-body movements)

Persistent preoccupation with parts of objects

Other diagnoses

Delays or abnormal functioning in at least


one of the following areas, with onset
before 3 years old: (1) social interaction,
(2) language as used in social
communication, or (3) symbolic or
imaginative play.

The disturbance is not better accounted


for by Rett's Disorder or childhood
disintegrative disorder.

Other diagnoses

Diagnosis of Autism is a clinical one

Use DSM-IV Criteria


Sometimes referral to ASD specialists for definitive
diagnosis

Diagnostic tools available:

Autism Behavior Checklist (ABC)


Gilliam Autism Rating Scale (GARS)
Autism Diagnostic Interview-Revised (ADI-R)
Childhood Autism Rating Scales (CARS)
Autism Diagnostic Observation Schedule-Generic
(ADOS-G)

Other diagnoses

Asperger disordersimilar to autism

No clinical significant delays in language


Higher levels of cognitive function
Greater interest in interpersonal social activity
Specific DSM-IV Criteria for diagnosis

PDD-NOSused for individuals with some, but


not all, of the DSM-IV criteria for autistic
disorder

Other diagnoses

Rhett Syndrome

Almost exclusively females


Develop normally initially, then gradually loose
speech, purposeful hand use after 18 months of age
Deceleration in head growth
Mutations in MECP2 gene

Childhood disintegrating disorder

Regression in multiple areas of functioning after two


years of normal development

References
American Academy of Pediatrics, Committee on Children with Disabilities: Developmental Surveillance
and Screening of Infants and Young Children. Pediatrics 2001; Vol 108: No.1: pp192-195.
American Academy of Pediatrics , Committee on Children with Disabilities : Identification and Evaluation
of Children with Autism Spectrum Disorders. Pediatrics 2007; Vol 120: No.5: pp1183-1215.
Augustyn M., Clinical features of autism spectrum disorders. www.uptodate.com.
Augustyn M., Diagnosis of autism spectrum disorders. www.uptodate.com.
Feldman H., Developmental-Behavioral Pediatrics. Ed. Zitelli B., Atlas of Pediatric Physical Diagnosis.
2002: pp58-86.
LaRosa A., Glascoe F., Developmental surveillance and screening in primary care www.uptoddate.com.
LaRosa A., Glascoe F., Developmental and behavioral screening tests in primary care
www.uptoddate.com.
Shevell M, Ashwal S, Donley D, et al. Practice parameter: Evaluation of the child with global
developmental delayreport of the Quality Standards Subcommittee of the American Academy of
Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2003;60 :367
380.

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