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 child’s 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 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)
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
• 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
• 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
• 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
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 screening—close surveillance
• Failing a screening test—these 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 months—agencies (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 years—preschool special education services are available (i.e.
Headstart)
• 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
• 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)
• Mild—50 to 70 IQ ( 70 is 2 SD from normal—100)
• Moderate—40 to 50
• Severe—20 to 40
• Profound—<20
Other diagnoses

• 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
• 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 Children’s 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 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

• Autism Spectrum Disorders Includes:

(ASD) • Autistic disorder
• Neurodevelopmental • Asperger disorder
disorders characterized by • Rhett’s disorder
impairments in three domains: • Childhood Disintegrating disorder
• Pervasive developmental
• Socialization disorder, not otherwise specified
(PDD-NOS)
• Communication
• Behavior
Other diagnoses

• 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:

• 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 disorder—similar 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-NOS—used 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
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.