Autism & Abnormal Development Flashcards
Criteria for autism spectrum disorder?
persistent deficits in social communication and interaction
restricted/repetitive patterns of behavior (incl sensory differences)
6 parts of an autism eval?
structured play-based testing parent interview speech, occupational, developmental testing head circumference review milestones vision/hearing/neuro exam
What is most important for treating autism?
early intervention (speech therapy, OT/PT)
What is the treatment for autism?
speech, OT, PT
address co-morbidities
avoid potentially harmful alternative therapy
Autism prognosis?
predicted based on joint attention, IQ, play skills, inclusion, interventions
mortality increased due to elopement, epilepsy, suicidality
What is echolalia?
repeating what you have heard
immediate - copycat
delayed - using phrases you’ve heard before
What is clanging?
speech that rhymes or sounds similar to other sounds (usually not functional)
4 common causes of global developmental delay?
fragile X (most common heritable)
Down syndrome (most common genetic)
congenital malformation
pre/perinatal injury
3 treatable causes of global developmental delay?
congenital hypothyroidism
PKU
lead poisoning
4 preventable causes of global developmental delay?
maternal drug use
fetal alcohol syndrome
intrauterine infection
nutritional deficiencies
What are causes of intrauterine infection ass’d with global developmental delay?
TORCHS toxoplasmosis rubella CMV herpes, HIV syphilis
3 important causes of developmental regression?
Rett’s syndrome
sphingolipidoses (Tay-Sach’s and Neiman-Pick)
mucopolysaccharidoses (Hurler’s syndrome)
Features of Rett’s syndrome?
only in girls developmental regression seizures repetitive hand movements growth failure cuased by MECP2 gene mutation
Tay-Sach’s features?
hexosaminidase A deficiency
causes toxic metabolite accumulation in lysosomes
cherry-red spots in the retina
Jews
Neiman-Pick features?
hepatosplenomegaly
loss of vision/hearing
cherry-red spots in the retina
leads to death
