Evaluating for Developmental
Delay
Jimmy Treadway MD
Introduction
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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 child’s first five years
of life
Early identification by primary care providers of
developmental delays leads to early referral for
evaluation and treatment
Introduction
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The Individuals With Disabilities
Education Act (IDEA) Amendments of
1997 mandates early identification and
intervention for developmental disabilities and
requires clinicians to refer children with
suspected developmental delays to the
appropriate early intervention system in a
timely manner
An established diagnosis of development
disability is not necessary for referral to early
intervention programs
Introduction

Developmental Disability/Delay (DD) is
present when functional aspects of a
child’s 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
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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
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In any patient population, there are children
with normal development, children with
obvious abnormal development and those in
between
Pediatricians are in unique position to provide
surveillance and screening due to their
routine contact with children and their
families
The American Academy of Pediatrics (AAP)
recommends all infants and young children
have surveillance/screening for
developmental delays
Surveillance and
Screening
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Surveillance—the 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
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Evidence based surveillance
– Psychosocial risks can be evaluated with measures
such as the Family Psychosocial Screen (FPS)
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~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)
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10 questions, ~2minutes
Scores indicate if a child is at high, moderate, or low risk
for DD
Surveillance and
Screening
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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
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Screening—brief, 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 autismspecific tool
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Surveillance and
Screening
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Screening Tests:
– Parents’ Evaluation of Developmental Status
(PEDS)
– Ages and Stages Questionnaires (ASQ)
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~15 minutes, by the parent
Generates a pass/fail score in four development domains
– Infant-Toddler Checklist for Language and
Communication
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~5-10 minutes, by the parent
Identifies scores 1.25 SD below normal
– Brigance Screens-II
Surveillance and
Screening
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Screening Tests
– Bayley Infant Neurodevelopmental Screener Test
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Direct examination
Scores identify high, moderate, and low risk for DD
– Denver Developmental Screening Test-II (DDST-II)
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Direst examination
Identifies risk category: normal, questionable, abnormal
Surveillance and
Screening
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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
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Outcomes of screening
– Normal development and few psychosocial risks—
continue routine care
– Low-Average development and psychosocial risks ,
but pass screening—close surveillance
– Failing a screening test—these children need
additional assessment/evaluation
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Referral for diagnostic evaluation/early intervention
services
Results of parent-completed tool are adequate for
referral
Evaluation and Diagnosis
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Developmental intervention
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Children 0-36 months—agencies (usually state
run, i.e. Early Steps) determine if children with
suspected/diagnosed DD qualify for services
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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
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Developmental intervention
– Children 3-5 years—preschool special
education services are available (i.e.
Headstart)
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Continued services—may be in or out of
classroom
– Children older than 5 years—referrals
usually made through public school system
– Private evaluations/services are also
available
Evaluation and Diagnosis
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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
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Children who fail developmental screening
may need further medical evaluation
– Chromosomal/Cytogenetic Testing (if +family
history)
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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
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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
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Cognitive impairment requires IQ testing (accurate
for ages ≥5 years)
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Mild—50 to 70 IQ ( 70 is 2 SD from normal—100)
Moderate—40 to 50
Severe—20 to 40
Profound—<20
Other diagnoses
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Adaptive skills—skills 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
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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
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Prevalence of MR in general population is 13%
Intellectual testing
– Weschler Preschool and Primary Scale of
Intelligence (WPPSI)
– Weschler Intelligence Scales for Children (WISCIII)
– Stanford-Binet Intelligence Scale
– Kaufman Assessment Battery for Children
– McCarthy Scales of Children’s Abilities
– Differential Ability Scales
– Leiter International Performance Scales
Other diagnoses
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Adaptive Testing
– Vineland Adaptive Behavior Scales
– AAMR Adaptive Behavior Scales
– Woodcock-Johnson Scales of Independent
Behavior
Other diagnoses
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Prognosis for MR—dependent on severity:
– Mild—can be taught to read/write, live
independently and hold jobs as adults
– Moderate—probably will not learn to read/write,
but may live/work in semi-independent supervised
settings
– Severe/profound—require substantial lifelong
support
– Also dependent on etiology of MR and co-morbid
conditions
Other diagnoses
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Autism Spectrum
Disorders (ASD)
– Neurodevelopmental
disorders characterized
by impairments in three
domains:
• Socialization
• Communication
• Behavior
Includes:
– Autistic disorder
– Asperger disorder
– Rhett’s disorder
– Childhood
Disintegrating
disorder
– Pervasive
developmental
disorder, not
otherwise
specified (PDDNOS)
Other diagnoses
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Autism Spectrum Disorders
– Occurs in ~1 in 150 to 1 in 500 children
– Increasing incidence since 1970s—due 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 disorder—DSM-IV Criteria:
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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):
1.
Qualitative impairment in social interaction, as
manifested by at least two of the following:
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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:
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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)
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In individuals with adequate speech, marked impairment in
the ability to initiate or sustain a conversation with others
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Stereotyped and repetitive use of language or idiosyncratic
language
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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:
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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
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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.
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The disturbance is not better
accounted for by Rett's Disorder or
childhood disintegrative disorder.
Other diagnoses
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Diagnosis of Autism is a clinical one
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Use DSM-IV Criteria
Sometimes referral to ASD specialists for
definitive diagnosis
Diagnostic tools available:
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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
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Asperger disorder—similar to autism
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No clinical significant delays in language
Higher levels of cognitive function
Greater interest in interpersonal social activity
Specific DSM-IV Criteria for diagnosis
PDD-NOS—used for individuals with some,
but not all, of the DSM-IV criteria for
autistic disorder
Other diagnoses
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Rhett Syndrome
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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
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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 delay—report 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.