Williams

Question 1

Phenotype

Answer 1

The physical, behavioral, or cognitive expression of a gene

Question 2

Velo-Cardio-Facial Syndrome

Answer 2

Microdeletion on chromosome 22; increased risk for psychiatric disorders, including schizophrenia

Question 3

Turner’s syndrome

Answer 3

Results from partial or complete X-monosomy for women (females only have 1 x chromosome). Although not associated with retardation, increased risk of learning difficulties in terms of mathematical, visuospatial, social behavior.

Question 4

Visuospatial processing

Answer 4

Parietal cortex - compared to healthy controls, people with Turner’s syndrome have less activity

Question 5

Fragile X

Answer 5

A disease that affects the X chromosome. Boys are more affected because females have two x chromosomes and can compensate. Most common cause of retardation among boys. Result of too many CGG repeats.

Question 6

Phenotype of fragile X

Answer 6

Social anxiety, deficit in inhibitory control, impairments in females with episodic memory. Episodic memory relies on hippocampus and both structural and functional abnormalities detected there.

Question 7

Genetic basis of Williams Syndrome

Answer 7

Deletion on chromosome 7. Removes more than 20 genes that encode for different functions. Results in a number of cognitive, behavioral, and physical phenotypes.

Question 8

Physical phenotypes of Williams syndrome

Answer 8

Facial characteristics - elastin gene seems to be involved in facial features
Growth
Dental abnormalities
Premature aging
Heart problems

Question 9

Why WS is important

Answer 9

Unlike like conditions such as autism, we know what genes are deleted. Can map specific genes onto behavior, brain, and cognition. Thus can gain an excellent understanding of relationship between those.

Question 10

Cognitive and social phenotypes in WS

Answer 10

Mental retardation
Hypersocial
Memory loss (lose train of thought
Learning disabilities, especially with dorsal stream visuospatial processing
Overly trusting. Socially overwhelming.
Little concept of time, value of money, age.

Question 11

Williams dorsal deficits

Answer 11

Dorsal pathway - reduced sulci depth and cortical thickness. Visualspatial deficits: remember drawing the house; arranging blocks.

Question 12

Williams Memory

Answer 12

Poor delayed memory and learning in both verbal and visuospatial memory.
Perform below average on speeded naming tasks - problems with retrieval

Question 13

Social fear in Williams

Answer 13

WS showed less activity to fearful faces - less activity in amygdala. Helps explain sociableness.

Question 14

Relatively preserved neural and cognitive functions

Answer 14

Language, face processing (remember this is in temporal/fusiform face area) and musical skills

Question 15

Face processing in WS

Answer 15

Fusiform gyrus is typically enlarged in WS

Question 16

Music perception in WS

Answer 16

Greater emotional responses, interest in music at early age, more hours per week listening, skills up to par with normal