Assessment of Developmental Disorders

Question 1

Define normal and abnormal development

Answer 1

normal = individual who grows/matures on expected path and achieves milestones approp

abnormal = indivudal unable to achieve milestones as expected to those of similar age

Question 2

Define range for developmental delay

Answer 2

2 SD below mean for child’s age

Question 3

Equation for developmental quotient

Answer 3

development age/ chronological age

> 85 give reassurance
70-85 = close monitor
less than 70 = refer

prematurity correction

Question 4

Domains of development

Answer 4

1) gross motor
2) fine motor
3) language
4) cognitive
5) social

Question 5

Screening tests
1) Fastest

2) Most sensitivity
3) Most specificity

Answer 5

1) fastest = parent completion = Denver II (0 min)
provider socre and interpret = ages and stages OR parents’ eval of developmental states

2) sensitivity = 80% with child development inventories or 56-83% with Denver II
3) specificity = 96% with child development inventories

Question 6

Difference btwn developmental delay and intelectual disability

Answer 6

NOT THE SAME

All child with intellectual disability have developmental delay BUT not all children with developmental delay have intellectual disability

Question 7

Define mental retard = intellectual disability

Answer 7

1) present from childhood less than 18 y/o
2) IQ 2 SD below mean = less than 75
3) limitations in > 2 adaptive skill areas (comm, self care, home liv, social, community use, self direction, safety, academ, work)

Question 8

Degrees of intellectual disability

1) IQ = 70-50 (85% of all)
2) IQ = 50-35 (10%)
3) IQ = 35-20 (~ 3-4)
4) IQ less than 20

Answer 8

1) mild = most common
2) mod
3) severe
4) profound

Question 9

cannot reliiably measure IQ before age __

Answer 9

5

Question 10

describe cerebral palsy

1) genetic or acquired
2) progressive or not?
3) type of impairment
4) onset when?
5) age when presents

Answer 10

1) acquired
2) non-progressive
3) motor impairment
4) onset = in utero, infancy or early development
5) typically

Question 11

Types of cerebral palsy

Answer 11

1) spastic (70-80%)
- quadriplegic
- diplegic/paraplegic
- hemiplegic

2) athetoid/dyskinetic (~20%)
3) ataxic

Question 12

Features of Autism

Answer 12

1) social interaction and social communication poor
2) decr repertoire of interests, behaviors, and activities
3) delays/abnl function in (social interaction, language in social comm, symbolic or imaginative play) before 3 y/o

Question 13

Symbolic or imaginative play
1) when does it emerge for symbolic

2) when does it emerge for imaginative

Answer 13

1) ~20 months

2) ~ 2y/o

Question 14

Describe Autism spectrum Disorders

Answer 14

broader than autism because show some but not all impairments for autism

Question 15

Distinguish btwn developmental disability and intellectual delay

Answer 15

very similar but DD is more of an umbrella term that includes ID

Question 16

Describe developmental disability features

Answer 16

1) severe chronic disability
2) must be > 5y/o
3) due to mental or physical impairment
4) manifest before 22 y/o
5) likely to continue forever

6) poor function in 3+ areas of life activity (self care, language, learning, mobility, self-direction, independence, money)

Question 17

procedure for diagnosis of DD

Answer 17

1) well child check
2) parental concern for DD
3) developmentals creen
4) DQ less than 70
5) refer to neurologist or child dev specialist

6) specialist confirm dx
works up

Question 18

Define congenital disorders categories

give ex of ea

Answer 18

1) CNS malformation
- cortical development
- neurocutaneous (TSC, NF)

2) intraureterine “acquired”
- infectious (TORCHES and HIV- CMV most common)
- toxic (fetal alcohol)
- stroke
- unknown (hydroceph)

Question 19

What are some genetic/heritable conditions categories

ex of ea

Answer 19

1) single gene disorders
- simple mendelian (PKU)
- complex mendelian (mosaicism, imprinting, triple repeats/methylation (fragile X)
- mitochondrial

2) chromosomal
- insertion
- deletion
- duplication (trisomy 21)

Question 20

What are some acquired/postnatal disorders

Answer 20

1) perinatal (asphyxia, prematurity/hemorrhage/stroke)
2) trauma

3) infectious
4) metabolic (hypoglycemia)
5) nutritional
6) epileptic encephalopathy

Question 21

Components of H&P exam

Answer 21

1) H&P

2) ophthalmologic exam

Question 22

Components of emtabolic studies

Answer 22

1) serum AA
2) urine organic acids
3) serum lactate
4) serum ammonia
5) serum pyruvate

Question 23

Components of cytogenetic studies

Answer 23

1) karyotype (better if dysmorphic features

2) molec genetic
- fragile X (boys with dev delay)
- incr yield if typical features

3) sequence analyssi or mutation of Rett gene (females with dev delay)
4) microarray (standard test)
5) whole exome sequencing

Question 24

Fragile X clinical features

mechanism

Answer 24

1) long jaw
2) high forehead
3) large/protuberant ear
4) hyperextensible joint
5) soft palmar skin
6) big testes
7) shy with poor eye contact then friendly and verbose
8) family hx of intellectual disability (on mother b/c X-linked)

mutation in FMR1 gene from CGG repeat

Question 25

Describe Rett syndrome clinical features

mechanism

Answer 25

1) microcephaly
2) ataxia
3) autistic features
4) sterotypical hand move
5) hyperventilation
6) seizures

X-linked MECP2 gene

Question 26

Describe Angelman syndrome

mechanism

Answer 26

1) wide mouth and prominent chin
2) seizures
3) microcephaly
4) nonverbal
5) smiling
6) ataxia
7) hand flapping

15q11-q13 methylation/deletion

Question 27

Lead toxicity

- risk factors

Answer 27

1) home older than 1950
2) abuse and neglect
3) parents exposed to lead (job, home renov)
4) low income

developmental delay may have higher lead levels

Question 28

Thyroid disorders

Answer 28

4% of cognitive children with congenital hypothyroidism

Question 29

EEG method

1) theory
2) children with seizures (normal or abnl EEGs)
3) indications for EEG

Answer 29

1) incr incidence of seizures in delayed children
2) can have normal
3) regression in skills; hx of seizures

Question 30

MRI or CT better

Answer 30

MRI especially for dx of cerebral palsy

better with phys exam abnormalities

Question 31

most commonly used screening measures

which is not used anymore?

Answer 31

ASQ = ages and stages

Denver II not used