8: Which Disability? Flashcards Preview

Simmons NURP 503 Exam 3 > 8: Which Disability? > Flashcards

Flashcards in 8: Which Disability? Deck (34)
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1
Q

Abnormal gene with a fragile site on the lower end of the long arm of the X chromosome (Xq27.3).

A

Fragile X Syndrome

2
Q

Brain disorder with 2 domains.

A

Autism Spectrum Disorder

3
Q

X0 (1 X chromosome in women)

A

Turner Syndrome

4
Q

XXY

A

Klinefelter Syndrome

5
Q

Recently discovered condition (1991) that causes cognitive impairment ranging from mild to severe.

A

Fragile X Syndrome

6
Q

Often not diagnosed until puberty.

A

Klinefelter Syndrome

7
Q

1-2% of down syndrome.

A

Translocation Down Syndrome

Mosaicism Down Syndrome

8
Q

Most common known cause of inherited IDD.

A

Fragile X Syndrome

9
Q

Presentation:

  1. Long, protruding ears
  2. Long, thin face with prominent jaw
  3. Epicanthal folds
A

Fragile X Syndrome

10
Q

Treated with estrogen therapy.

A

Turner Syndrome

11
Q

Trisomy 21

A

Down Syndrome

12
Q

Occurs in about 1:2,500 newborns worldwide. Much more common in miscarriages.

A

Turner Syndrome

13
Q

This form of down syndrome has varying levels of characteristics, depending on the number of cells affected.

A

Mosaicism Down Syndrome

14
Q

Behavior:

  1. Mild to severe IDD
  2. Speech defects
  3. Attention deficits
  4. Autistic-like behaviors
A

Fragile X Syndrome

15
Q

Presentation:

  1. Microcephaly
  2. Abnormal joints/limbs
  3. Problems with learning
A

Fetal Alcohol Syndrome

16
Q

Most common of all sex chromosome abnormalities.

A

Klinefelter Syndrome

17
Q

Presentation:

  1. Epicanthal folds
  2. Increased head circumference
  3. Large testes
A

Fragile X Syndrome

18
Q

Most frequent autosomal anomaly.

A

Down Syndrome

19
Q

100% preventable cause of IDD.

A

Fetal Alcohol Syndrome

20
Q

Defined as pattern of physical, behavioral, cognitive abnormalities seen in individuals exposed to alcohol in utero.

A

Fetal Alcohol Syndrome

21
Q

Presentation:

  1. Failure in social situations
  2. Deficits in nonverbal communication
  3. Repetitive patterns of behavior
A

Autism Spectrum Disorder

22
Q

Commonly co-occurs in twins.

A

Autism Spectrum Disorder

23
Q

About 25% with IDD have this condition.

A

Fragile X Syndrome

24
Q

Presentation:

  1. Webbing of neck
  2. Normal IQ
  3. Short stature
A

Turner Syndrome

25
Q

Presentation:

  1. Small eye openings
  2. Smooth philtrum
  3. Thin upper lip
A

Fetal Alcohol Syndrome

26
Q

Presentation:

  1. Generalized hypotonia
  2. Epicanthal folds
  3. Transverse palmar creases
A

Down Syndrome

27
Q

Affects only females.

A

Turner Syndrome

28
Q

Most common cardiac abnormality is atrioventricular septal defect.

A

Down Syndrome

29
Q

Error in cell division; similar to nondisjunction in Down syndrome.

A

Turner Syndrome

30
Q

Presentation:

  1. Microorchidism
  2. Reduced secondary sex characteristics
  3. Normal to borderline IQ
A

Klinefelter Syndrome

31
Q

95% of down syndrome.

A

Nondisjunction Down Syndrome (Trisomy 21)

32
Q

Affects only males.

A

Klinefelter Syndrome

33
Q

Remains one of the most frequent causes of intellectual disability.

A

Down Syndrome

34
Q

Presentation

  1. Heart defect
  2. Lymphedema of hands/feet
  3. Shield chest
  4. Early loss of ovarian function
A

Turner Syndrome