SM_102b: Intellectual Disability Flashcards
Fill scale IQ = _____ and _____
Fill scale IQ = verbal IQ and performance IQ
IQ = _____
IQ = (mental age / chronic age) x 100
IQ is ____ with an average of ____ and standard deviation of ____
IQ is normally distributed with an average of 100 and standard deviation of 10
Mild intellectual disability is IQ of ____, while moderate intellectual disability is IQ of ____
Mild intellectual disability is IQ of 50-70, while moderate intellectual disability is IQ of 35-50
____ and ____ factors are involved in intellectual disability
Genetic and environmental factors are involved in intellectual disability
Origin of severe intellectual disability is most commonly ____
Origin of severe intellectual disability is most commonly prenatal
Most common prenatal etiology for severe intellectual disability is ____
Most common prenatal etiology for severe intellectual disability is chromosomal
Array based comparative genomic hybridization is optimal for identifying genetic causes of ____
Array based comparative genomic hybridization is optimal for identifying genetic causes of intellectual disability
FMR1 with ____ repeats leads to intellectual disability
FMR1 with >200 repeats leads to intellectual disability
(Fragile X)
____ with >200 repeats leads to intellectual disability
FMR1 with >200 repeats leads to intellectual disability
(Fragile X)
Full mutations in FMR1 causing fragile X occur due to _____ and _____
Full mutations in FMR1 causing fragile X occur due to
- Meiotically unstable in oogenesis: tends to expand
- Mitotically unstable post-fertilization: leads to mosaicism for size of expanded repeat
Single gene causes of intellectual disability include ____, ____, and ____
Single gene causes of intellectual disability include Noonan syndrome, incontinentia pigmenti, and Brachman-De Lange syndrome
Noonan syndrome is a single gene cause of intellectual disability and has ____ inheritance
Noonan syndrome is a single gene cause of intellectual disability and has autosomal dominant inheritance
Incontinentia pigmenti is a single gene cause of intellectual disability and has ____ inheritance
Incontinentia pigmenti is a single gene cause of intellectual disability and has X-linked dominant inheritance (lethal in males)
Brachman-De Lange syndrome is a single gene cause of intellectual disability and is usually ____
Brachman-De Lange syndrome is a single gene cause of intellectual disability and is usually sporadic
Malformational causes of severe intellectual disability include ____ and ____
Malformational causes of severe intellectual disability include multiple congenital anomalies and isoalted CNS malformations
Cause of most congenital malformations is ____
Cause of most congenital malformations is unknown
Myelomeningocele, anencephaly, and encephalocele are associated with ____
Myelomeningocele, anencephaly, and encephalocele are associated with intellectual disability
Other causes of severe intellectual disability include ____, ____, ____, and ____
Other causes of severe intellectual disability include perinatal causes, infectious diseases, postnatal brain injuries, and unclassified
IQ deterioration ____, while degeneration ____
IQ deterioration occurs then plateaus, while IQ degeneration occurs continually over time
If a patient is intellectually disabled with an IQ > 50, cause may be ____
If a patient is intellectually disabled with an IQ > 50, cause may be familial
If a patient is intellectually disabled with an IQ < 50, cause may be ____, ____, or ____
If a patient is intellectually disabled with an IQ < 50, cause may be prenatal, perinatal, or postnatal
People with intellectual disability have ____ major and minor anomalies than those without intellectual disability
People with intellectual disability have more major and minor anomalies than those without intellectual disability
