8: Which Disability? Flashcards
Abnormal gene with a fragile site on the lower end of the long arm of the X chromosome (Xq27.3).
Fragile X Syndrome
Brain disorder with 2 domains.
Autism Spectrum Disorder
X0 (1 X chromosome in women)
Turner Syndrome
XXY
Klinefelter Syndrome
Recently discovered condition (1991) that causes cognitive impairment ranging from mild to severe.
Fragile X Syndrome
Often not diagnosed until puberty.
Klinefelter Syndrome
1-2% of down syndrome.
Translocation Down Syndrome
Mosaicism Down Syndrome
Most common known cause of inherited IDD.
Fragile X Syndrome
Presentation:
- Long, protruding ears
- Long, thin face with prominent jaw
- Epicanthal folds
Fragile X Syndrome
Treated with estrogen therapy.
Turner Syndrome
Trisomy 21
Down Syndrome
Occurs in about 1:2,500 newborns worldwide. Much more common in miscarriages.
Turner Syndrome
This form of down syndrome has varying levels of characteristics, depending on the number of cells affected.
Mosaicism Down Syndrome
Behavior:
- Mild to severe IDD
- Speech defects
- Attention deficits
- Autistic-like behaviors
Fragile X Syndrome
Presentation:
- Microcephaly
- Abnormal joints/limbs
- Problems with learning
Fetal Alcohol Syndrome
Most common of all sex chromosome abnormalities.
Klinefelter Syndrome
Presentation:
- Epicanthal folds
- Increased head circumference
- Large testes
Fragile X Syndrome
Most frequent autosomal anomaly.
Down Syndrome
100% preventable cause of IDD.
Fetal Alcohol Syndrome
Defined as pattern of physical, behavioral, cognitive abnormalities seen in individuals exposed to alcohol in utero.
Fetal Alcohol Syndrome
Presentation:
- Failure in social situations
- Deficits in nonverbal communication
- Repetitive patterns of behavior
Autism Spectrum Disorder
Commonly co-occurs in twins.
Autism Spectrum Disorder
About 25% with IDD have this condition.
Fragile X Syndrome
Presentation:
- Webbing of neck
- Normal IQ
- Short stature
Turner Syndrome
Presentation:
- Small eye openings
- Smooth philtrum
- Thin upper lip
Fetal Alcohol Syndrome
Presentation:
- Generalized hypotonia
- Epicanthal folds
- Transverse palmar creases
Down Syndrome
Affects only females.
Turner Syndrome
Most common cardiac abnormality is atrioventricular septal defect.
Down Syndrome
Error in cell division; similar to nondisjunction in Down syndrome.
Turner Syndrome
Presentation:
- Microorchidism
- Reduced secondary sex characteristics
- Normal to borderline IQ
Klinefelter Syndrome
95% of down syndrome.
Nondisjunction Down Syndrome (Trisomy 21)
Affects only males.
Klinefelter Syndrome
Remains one of the most frequent causes of intellectual disability.
Down Syndrome
Presentation
- Heart defect
- Lymphedema of hands/feet
- Shield chest
- Early loss of ovarian function
Turner Syndrome
