SCREENING AND DIAGNOSIS

Growth - Development and

Delayed

YARSI SCHOOL OF MEDICINE

WAN NEDRA
2016
 Growth and Development

Growth refers to the body getting larger in size

(height and weight)
Development to the body becoming more skilled or
mature, following areas:
Gross motor skills the overall tone, strength and coordination of a child;
how well a child is able to roll, sit and walk.
Fine motor skills hand-eye coordination and the ability of a child to grab
and release small objects.
Cognitive, linguistic and communication skills how a child receives the
information, thinks and expresses it.
Social and emotional skills how a child learns to see himself/herself as a
loved, loving, able, unique human being, and how a child knows what is
expected and how to act in his/her culture or society.
 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
 Surveillance and Screening

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)
 Surveillance and Screening

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)

~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 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 Includes:
Disorders (ASD) Autistic disorder
Neurodevelopmental Asperger disorder
disorders characterized by
impairments in three Rhetts disorder
domains: Childhood
Disintegrating disorder
Socialization Pervasive
Communication developmental disorder,
Behavior 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):
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 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.