8: Which Disability? Flashcards Preview

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

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

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

Fragile X Syndrome

2

Brain disorder with 2 domains.

Autism Spectrum Disorder

3

X0 (1 X chromosome in women)

Turner Syndrome

4

XXY

Klinefelter Syndrome

5

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

Fragile X Syndrome

6

Often not diagnosed until puberty.

Klinefelter Syndrome

7

1-2% of down syndrome.

Translocation Down Syndrome
Mosaicism Down Syndrome

8

Most common known cause of inherited IDD.

Fragile X Syndrome

9

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

Fragile X Syndrome

10

Treated with estrogen therapy.

Turner Syndrome

11

Trisomy 21

Down Syndrome

12

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

Turner Syndrome

13

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

Mosaicism Down Syndrome

14

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

Fragile X Syndrome

15

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

Fetal Alcohol Syndrome

16

Most common of all sex chromosome abnormalities.

Klinefelter Syndrome

17

Presentation:
1. Epicanthal folds
2. Increased head circumference
3. Large testes

Fragile X Syndrome

18

Most frequent autosomal anomaly.

Down Syndrome

19

100% preventable cause of IDD.

Fetal Alcohol Syndrome

20

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

Fetal Alcohol Syndrome

21

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

Autism Spectrum Disorder

22

Commonly co-occurs in twins.

Autism Spectrum Disorder

23

About 25% with IDD have this condition.

Fragile X Syndrome

24

Presentation:
1. Webbing of neck
2. Normal IQ
3. Short stature

Turner Syndrome

25

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

Fetal Alcohol Syndrome

26

Presentation:
1. Generalized hypotonia
2. Epicanthal folds
3. Transverse palmar creases

Down Syndrome

27

Affects only females.

Turner Syndrome

28

Most common cardiac abnormality is atrioventricular septal defect.

Down Syndrome

29

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

Turner Syndrome

30

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

Klinefelter Syndrome

31

95% of down syndrome.

Nondisjunction Down Syndrome (Trisomy 21)

32

Affects only males.

Klinefelter Syndrome

33

Remains one of the most frequent causes of intellectual disability.

Down Syndrome

34

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

Turner Syndrome