Intellectual Disability Flashcards
The majority of cases of ID result from…
Changes in early brain development - believed to be related to a disruption of neuronal proliferation, apoptosis, migration, synaptogenesis, and/or dendritic pruning.
Most prevalent form of ID with a known genetic etiology.
Down syndrome
Most common familial or inherited form of ID with a known genetic etiology
Fragile X syndrome
The leading worldwide preventable cause of ID is…
iodine deficiency causing thyroid hormone deficiency during pregnancy.
Common environmental and preventable cause of ID is…
Fetal alcohol syndrome.
Prevalence of ID with range of severity
85% mild (~ 6th grade level)
10% moderate (~2nd grade level)
3-4% severe
1-2 profound
Life expectancy for individuals with Tay-Sachs disease is…
4 or 5 years
Life expectancy for individuals with Down syndrome is…
60 years.
Autism vs William’s syndrome cognitive profile
Autism: visual > verbal
William’s: verbal > visual
The leading preventable cause of ID in the U.S. is…
Fetal alchohol syndrome
How many known genetic causes of ID?
> 1,000
Maple syrup urine disease
Rare genetic disorder characterized by deficiency of particular enzymes to metabolize certain protein amino acids properly (a.k.a., inborn errors of metabolism)
The condition gets its name from the characteristic sweet odor of affected infants’ urine, which resembles maple syrup.
All states are mandated to screen for which two preventable causes of ID at birth?
phenylketonuria (PKU) and congenital hypothyroidism
