Evaluating for Developmental

Delay

Jimmy Treadway MD

Introduction

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

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
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

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

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)

~15 minutes, by the parent

Generates a pass/fail score in four development
domains

Infant-Toddler Checklist for Language and

Communication

~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

riskscontinue 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 semiindependent supervised settings
Severe/profoundrequire substantial
lifelong support
Also dependent on etiology of MR and comorbid 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 (PDDNOS)

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):

1.

Qualitative impairment in social interaction, as

manifested by at least two of the following:

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 wholebody 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 ScheduleGeneric (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.