Genetic D/o w/ Intellectual Disability

Question 1

What is the most common genetic d/o associated with intellectual disability?

Answer 1

Down Syndrome

Question 2

Down Syndrome is also known as ___ ___

Answer 2

Trisomy 21

Question 3

Is Down Syndrome typically inherited?

Answer 3

No

Question 4

Is Down Syndrome usually mild, moderate, or severe?

Answer 4

Mild-moderate

Question 5

Does a pt with down syndrome have associated physical features and medical complications?

Answer 5

YES

Question 6

Behavioral challenges are (uncommon/common) in pts with down syndrome

Answer 6

common

Question 7

What d/o commonly co-occurs in pts with down syndrome?

Answer 7

ADHD

Question 8

Prader willi syndrome is characterized by a loss of gene function in region of chromosome ___

Answer 8

15

Question 9

What are some examples of associated physical/medical features of a pt with Prader willi syndrome?

Answer 9

Dev. delays, early feeding difficulties and FTT
Delayed puberty, infertility
Short stature, small hands and feet
Obesity due to hyperphagia (excessive hunger)

Question 10

What are the distinctive facial features of a pt with Prader willi syndrome? (forehead, eyes, mouth shapes)

Answer 10

Narrow forehead, almond shaped eyes, triangular mouth

Question 11

Pts with Prader willi syndrome usually have mild, moderate, or severe intellectual disabilities?

Answer 11

mild-moderate

Question 12

What is the most common inherited genetic d/o associated with intellectual disability?

Answer 12

Fragile X Syndrome

Question 13

Fragile X syndrome is a ____ gene mutation, inherited in an X-linked (recessive/dominant) pattern

Answer 13

FMR1; dominant

Question 14

Are males or females more severely affected in Fragile X syndrome?

Answer 14

Males

Question 15

What d/o have a higher rate of co-occurrence in pts with Fragile X syndrome?

Answer 15

ASD, ADHD, anxiety, mood d/o

Question 16

Angelman syndrome occurs secondary to the loss of _____ gene function, with most cases involving a segment deletion on chromosome ___

Answer 16

UBE3A

15

Question 17

Most cases of Angelman Syndrome (are not/are) inherited

Answer 17

Not inherited

Question 18

What are some associated physical/medical features of Angelman syndrome?

Answer 18

Microcephaly and “coarse” facial features, ataxic movements, epilepsy

Question 19

Pts with Angelman syndrome usually have mild, moderate, or severe intellectual disabilities?

Answer 19

severe-profound

Question 20

Pts with Angelman syndrome have frequent _____ and bouts of _____

Answer 20

Frequent smiling, bouts of laughter (happy, excitable demeanor)

Question 21

T/F: Williams syndrome and Tuberous sclerosis complex are other examples of genetic d/o with intellectual disabilities

Answer 21

TRUE

Question 22

What are some common physical features of a pt with Down Syndrome?

Answer 22

flattened face/nose bridge, prominent upper eyelid fold, upward slanting eyes, small ears, short neck, large tongue, Brushfield spots on irises, small hands/feet, single palmar crease, small pinky fingers curving towards thumb, hypotonia, short stature

Question 23

What are commonly co-occurring d/o in pts with Prader Willi syndrome?

Answer 23

Anxiety and OCD