Intellectual Disability Criteria - Answer - Deficits in intellectual functioning confirmed by
assessment/intellectual testing
- Deficits in adaptive functioning that result in inability to meet social/cultural standards
for independence and social responsibility
- Onset during developmental period (by 18 y.o.)
Fragile X Syndrome - Answer - A disorder produced by injury to a gene on the X
chromosome, producing mild to moderate cognitive impairment
- Most commonly inherited IDD
- Average age of diagnosis: 36 months in boys and 42 months in girls
- Features: long, protruding ears; intellectual disability, long thin face with prominent
jaw; epicanthal folds, high arched palate, increased head circumference, large testes
- Behavioral features: mild to severe IDD, speech deficits, attention deficits, autistic like
behaviors
Turner Syndrome - Answer - A chromosomal disorder in females in which either an X
chromosome is missing, making the person XO instead of XX, or part of one X
chromosome is deleted.
- Not usually inherited but usually a random event with an error in cell division
- Characteristics: webbing of the neck, lymphedema of hands and feet, heart defect,
normal IQ, short stature, infertile, do not undergo puberty
- Tx: growth hormone before 4 y.o., hormone replacement therapy for breast
development, uterine growth, and bone density; low dose estrogen monotherapy and
progesterone 1-2 years later
Klinfelter Syndrome - Answer - An extra X chromosome that effects males
- Not inherited just a random error during cell division
- Puberty starts normally but with less testosterone which slows it down
- Characteristics: smaller penis/testes, breast growth, less facial/body hair, reduced
muscle tone, narrow shoulders, wide hips, osteoporosis, decreased sexual interest,
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