Assessing Developmental Delays

Question 1

Ways to assess development

Answer 1

• Parent’s questionnaire
• Well-child check
• Denver II

Question 2

Developmental delay vs. Intellectual Disability

Answer 2

• all children w/intellectual disability have developmental delay
  
  • intellectual disability:
    
    • present @ childhood
    • IQ at least 2 SD below mean (IQ < 70-75)
    • limitations in >2 adaptive skill areas
• Not all children with developmental delay have intellectual disability

Question 3

Examples of adaptive skill areas

Answer 3

• communication
• self care
• home living
• social skills
• community use
• self direction
• health safety
• leisure/work

Question 4

Degrees of Intellectual disability

Answer 4

• Mild = 50-70
• Moderate = 35-50
• Severe = 20-35
• Profound < 2
• **cannot reliably measure IQ before the age of 5

Question 5

Characteristics of cerebral palsy

Answer 5

• acquired (not genetically predisposed)
  
  • e.g. stroke or infection
• non-progressive
• motor impairment
• onset: in utero, infancy or early development

Question 6

Types of cerebral palsy

Answer 6

• spastic (70-80%)
  
  • quadraplegic = all limbs
  • diplegic/paraplegic
  • hemiplegic = single side
• athetoid/dyskinetic (~20%)
• ataxia (<10%)

Question 7

Characteristics of Autism

Answer 7

• abnormality in:
  
  • social interaction
  • social communication
• w/restriced repertoire of interests, behaviors, and activities
• delays/abnormal fxn in at least one of the following areas < 3yo:
  
  • social interaction
  • language
  • symbolic/interactive play
• spectrum disorder

Question 8

Characteristics of Developmental Disability

Answer 8

• severe, chronic disability in >5yo that:
  
  • mental or physical impairment or combo
  • mainfests before age 22
  • likely to be indefinite

Question 9

Developmental disability vs. intellectual disability

Answer 9

• DD = umbrella term that includes ID
• Cerebral palsy = DD, but not ID

Question 10

Types/etiologies of Developmental Disorders

Answer 10

• congenital = @ birth (can be aquired or inherited)
  
  • CNS malformation
• genetic/heritable
  
  • fragile
  • trisomy 21
• acquired
  
  • TORCHES = congenital infections
  • perinatal stroke

Question 11

TORCHES =

Answer 11

• toxoplasmosis
• RSV

Question 12

Examples of congenital developmental disabilities

Answer 12

• CNS malformation
  
  • malformed cortex
  • neurocutaneous
• Intrauterine “acquire”
  
  • infectious
  • toxic
  • stroke

Question 13

Examples of genetic Developmental Disabilities

Answer 13

• single gene disorders
  
  • PKU
  • Prader-willi/Angelman
  • Fragile X
• chromosomal
  
  • intersitions/deletions
  • duplications (Trisomy 21)

Question 14

Examples of acquired/postnatal developmental disabilities

Answer 14

• Perinatal

– Asphyxia

– Prematurity/intracranial hemorrhage

– Stroke

• Trauma

– Non-accidental trauma

• Infectious
• Nutritional
• Metabolic

– Hypoglycemia

• Epileptic encephalopathy

Question 15

Developmental disability “practice parameter”

Answer 15

• Hx & PE
• Metabolic testing
• Cytogenetic studies
• Lead/thyroid
• EEG
• Neuroimaging

Question 16

Characteristics of Fragile X

Answer 16

• dysmorphic features: long jaw, high forehead
• initially shy, then friendly and verbose
• Mutation @ FMR1 gene due to CGG trinucleotide repeat

Question 17

Characteristics of Rett syndrome

Answer 17

• microcephaly
• ataxia
• autistic-like
• hyperventilation
• seizures
• X linked MECP2 gene

Question 18

Angelman syndrome characteristics

Answer 18

• wide mouth
• seizures
• microcephaly
• nonverbal
• happy
• ataxia
• hand flapping
• Chromosome 15q11-13 methylation/deletion

Question 19

Domains of development

Answer 19

• motor
• language
• social
• cofnitive