SM_102b: Intellectual Disability

Question 1

Fill scale IQ = _____ and _____

Answer 1

Fill scale IQ = verbal IQ and performance IQ

Question 2

IQ = _____

Answer 2

IQ = (mental age / chronic age) x 100

Question 3

IQ is ____ with an average of ____ and standard deviation of ____

Answer 3

IQ is normally distributed with an average of 100 and standard deviation of 10

Question 4

Mild intellectual disability is IQ of ____, while moderate intellectual disability is IQ of ____

Answer 4

Mild intellectual disability is IQ of 50-70, while moderate intellectual disability is IQ of 35-50

Question 5

____ and ____ factors are involved in intellectual disability

Answer 5

Genetic and environmental factors are involved in intellectual disability

Question 6

Origin of severe intellectual disability is most commonly ____

Answer 6

Origin of severe intellectual disability is most commonly prenatal

Question 7

Most common prenatal etiology for severe intellectual disability is ____

Answer 7

Most common prenatal etiology for severe intellectual disability is chromosomal

Question 8

Array based comparative genomic hybridization is optimal for identifying genetic causes of ____

Answer 8

Array based comparative genomic hybridization is optimal for identifying genetic causes of intellectual disability

Question 9

FMR1 with ____ repeats leads to intellectual disability

Answer 9

FMR1 with >200 repeats leads to intellectual disability

(Fragile X)

Question 10

____ with >200 repeats leads to intellectual disability

Answer 10

FMR1 with >200 repeats leads to intellectual disability

(Fragile X)

Question 11

Full mutations in FMR1 causing fragile X occur due to _____ and _____

Answer 11

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

Question 12

Single gene causes of intellectual disability include ____, ____, and ____

Answer 12

Single gene causes of intellectual disability include Noonan syndrome, incontinentia pigmenti, and Brachman-De Lange syndrome

Question 13

Noonan syndrome is a single gene cause of intellectual disability and has ____ inheritance

Answer 13

Noonan syndrome is a single gene cause of intellectual disability and has autosomal dominant inheritance

Question 14

Incontinentia pigmenti is a single gene cause of intellectual disability and has ____ inheritance

Answer 14

Incontinentia pigmenti is a single gene cause of intellectual disability and has X-linked dominant inheritance (lethal in males)

Question 15

Brachman-De Lange syndrome is a single gene cause of intellectual disability and is usually ____

Answer 15

Brachman-De Lange syndrome is a single gene cause of intellectual disability and is usually sporadic

Question 16

Malformational causes of severe intellectual disability include ____ and ____

Answer 16

Malformational causes of severe intellectual disability include multiple congenital anomalies and isoalted CNS malformations

Question 17

Cause of most congenital malformations is ____

Answer 17

Cause of most congenital malformations is unknown

Question 18

Myelomeningocele, anencephaly, and encephalocele are associated with ____

Answer 18

Myelomeningocele, anencephaly, and encephalocele are associated with intellectual disability

Question 19

Other causes of severe intellectual disability include ____, ____, ____, and ____

Answer 19

Other causes of severe intellectual disability include perinatal causes, infectious diseases, postnatal brain injuries, and unclassified

Question 20

IQ deterioration ____, while degeneration ____

Answer 20

IQ deterioration occurs then plateaus, while IQ degeneration occurs continually over time

Question 21

If a patient is intellectually disabled with an IQ > 50, cause may be ____

Answer 21

If a patient is intellectually disabled with an IQ > 50, cause may be familial

Question 22

If a patient is intellectually disabled with an IQ < 50, cause may be ____, ____, or ____

Answer 22

If a patient is intellectually disabled with an IQ < 50, cause may be prenatal, perinatal, or postnatal

Question 23

People with intellectual disability have ____ major and minor anomalies than those without intellectual disability

Answer 23

People with intellectual disability have more major and minor anomalies than those without intellectual disability