Assessment of Developmental Disorders Flashcards
Define normal and abnormal development
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
Define range for developmental delay
2 SD below mean for child’s age
Equation for developmental quotient
development age/ chronological age
> 85 give reassurance
70-85 = close monitor
less than 70 = refer
prematurity correction
Domains of development
1) gross motor
2) fine motor
3) language
4) cognitive
5) social
Screening tests
1) Fastest
2) Most sensitivity
3) Most specificity
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
Difference btwn developmental delay and intelectual disability
NOT THE SAME
All child with intellectual disability have developmental delay BUT not all children with developmental delay have intellectual disability
Define mental retard = intellectual disability
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)
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
1) mild = most common
2) mod
3) severe
4) profound
cannot reliiably measure IQ before age __
5
describe cerebral palsy
1) genetic or acquired
2) progressive or not?
3) type of impairment
4) onset when?
5) age when presents
1) acquired
2) non-progressive
3) motor impairment
4) onset = in utero, infancy or early development
5) typically
Types of cerebral palsy
1) spastic (70-80%)
- quadriplegic
- diplegic/paraplegic
- hemiplegic
2) athetoid/dyskinetic (~20%)
3) ataxic
Features of Autism
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
Symbolic or imaginative play
1) when does it emerge for symbolic
2) when does it emerge for imaginative
1) ~20 months
2) ~ 2y/o
Describe Autism spectrum Disorders
broader than autism because show some but not all impairments for autism
Distinguish btwn developmental disability and intellectual delay
very similar but DD is more of an umbrella term that includes ID
Describe developmental disability features
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)
procedure for diagnosis of DD
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
Define congenital disorders categories
give ex of ea
1) CNS malformation
- cortical development
- neurocutaneous (TSC, NF)
2) intraureterine “acquired”
- infectious (TORCHES and HIV- CMV most common)
- toxic (fetal alcohol)
- stroke
- unknown (hydroceph)
What are some genetic/heritable conditions categories
ex of ea
1) single gene disorders
- simple mendelian (PKU)
- complex mendelian (mosaicism, imprinting, triple repeats/methylation (fragile X)
- mitochondrial
2) chromosomal
- insertion
- deletion
- duplication (trisomy 21)
What are some acquired/postnatal disorders
1) perinatal (asphyxia, prematurity/hemorrhage/stroke)
2) trauma
3) infectious
4) metabolic (hypoglycemia)
5) nutritional
6) epileptic encephalopathy
Components of H&P exam
1) H&P
2) ophthalmologic exam
Components of emtabolic studies
1) serum AA
2) urine organic acids
3) serum lactate
4) serum ammonia
5) serum pyruvate
Components of cytogenetic studies
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
Fragile X clinical features
mechanism
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
Describe Rett syndrome clinical features
mechanism
1) microcephaly
2) ataxia
3) autistic features
4) sterotypical hand move
5) hyperventilation
6) seizures
X-linked MECP2 gene
Describe Angelman syndrome
mechanism
1) wide mouth and prominent chin
2) seizures
3) microcephaly
4) nonverbal
5) smiling
6) ataxia
7) hand flapping
15q11-q13 methylation/deletion
Lead toxicity
- risk factors
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
Thyroid disorders
4% of cognitive children with congenital hypothyroidism
EEG method
1) theory
2) children with seizures (normal or abnl EEGs)
3) indications for EEG
1) incr incidence of seizures in delayed children
2) can have normal
3) regression in skills; hx of seizures
MRI or CT better
MRI especially for dx of cerebral palsy
better with phys exam abnormalities
most commonly used screening measures
which is not used anymore?
ASQ = ages and stages
Denver II not used
