8: Which Disability?

Question 1

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

Answer 1

Fragile X Syndrome

Question 2

Brain disorder with 2 domains.

Answer 2

Autism Spectrum Disorder

Question 3

X0 (1 X chromosome in women)

Answer 3

Turner Syndrome

Question 4

XXY

Answer 4

Klinefelter Syndrome

Question 5

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

Answer 5

Fragile X Syndrome

Question 6

Often not diagnosed until puberty.

Answer 6

Klinefelter Syndrome

Question 7

1-2% of down syndrome.

Answer 7

Translocation Down Syndrome

Mosaicism Down Syndrome

Question 8

Most common known cause of inherited IDD.

Answer 8

Fragile X Syndrome

Question 9

Presentation:

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

Answer 9

Fragile X Syndrome

Question 10

Treated with estrogen therapy.

Answer 10

Turner Syndrome

Question 11

Trisomy 21

Answer 11

Down Syndrome

Question 12

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

Answer 12

Turner Syndrome

Question 13

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

Answer 13

Mosaicism Down Syndrome

Question 14

Behavior:

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

Answer 14

Fragile X Syndrome

Question 15

Presentation:

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

Answer 15

Fetal Alcohol Syndrome

Question 16

Most common of all sex chromosome abnormalities.

Answer 16

Klinefelter Syndrome

Question 17

Presentation:

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

Answer 17

Fragile X Syndrome

Question 18

Most frequent autosomal anomaly.

Answer 18

Down Syndrome

Question 19

100% preventable cause of IDD.

Answer 19

Fetal Alcohol Syndrome

Question 20

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

Answer 20

Fetal Alcohol Syndrome

Question 21

Presentation:

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

Answer 21

Autism Spectrum Disorder

Question 22

Commonly co-occurs in twins.

Answer 22

Autism Spectrum Disorder

Question 23

About 25% with IDD have this condition.

Answer 23

Fragile X Syndrome

Question 24

Presentation:

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

Answer 24

Turner Syndrome

Question 25

Presentation:

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

Answer 25

Fetal Alcohol Syndrome

Question 26

Presentation:

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

Answer 26

Down Syndrome

Question 27

Affects only females.

Answer 27

Turner Syndrome

Question 28

Most common cardiac abnormality is atrioventricular septal defect.

Answer 28

Down Syndrome

Question 29

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

Answer 29

Turner Syndrome

Question 30

Presentation:

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

Answer 30

Klinefelter Syndrome

Question 31

95% of down syndrome.

Answer 31

Nondisjunction Down Syndrome (Trisomy 21)

Question 32

Affects only males.

Answer 32

Klinefelter Syndrome

Question 33

Remains one of the most frequent causes of intellectual disability.

Answer 33

Down Syndrome

Question 34

Presentation

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

Answer 34

Turner Syndrome