William's Syndrome

Question 1

Williams syndrome is caused by…

Answer 1

Hemizygous deletion of 25 genes on chromosome 7

Question 2

Deletion is caused by…

Answer 2

Unequal crossing over in the critical region during meiosis

Question 3

Deletion results in…

Answer 3

Extra material on one chromosome and missing material on the other

Question 4

Williams brain size is

Answer 4

Overall smaller

Question 5

Smaller brain areas

Answer 5

Parietal and occipital

Question 6

Corpus callousness is

Answer 6

Flatter and bent

Question 7

The cerebellum is

Answer 7

Preserved

Question 8

Cell density is increased in … (3) … due to a failure of …

Answer 8

Occipital regions, RH perisylvian language areas, RH STG

Myelination and pruning

Question 9

The fusiform is… though the FFA is…

Answer 9

Smaller

Larger

Question 10

Cortical … is increased

Answer 10

Gyrification

Question 11

The amygdala is… leading to…

Answer 11

Larger

Decreased activation to fearful faces
Increased activation to happy faces
Increased activation to threatening scenes

Question 12

ERP’s show

Answer 12

An atypical activation to faces

Same recognition process for both upright and inverted faces whereas TD use different processes

Question 13

Dendrites are…
Spines are…
Leading to…
Linked to… which is linked to

Answer 13

Longer and faster growing
More spines and more synapses 
Activity 
FZD9 gene
Neurotrophin (brain development)

Question 14

Oxytocin is

Answer 14

Dysregulated affecting emotional responses and bonding

Question 15

Physical phenotype

Answer 15

Short
Turned up nose, wide mouth, puffy under eyes, Stellate eyes, small irregular teeth
Hoarse voice 
Gait ataxia
Poor muscle tone
Loose joints
Abnormal spine curvature
Hyperacusis and hypersensitivity

Question 16

Behavioural phenotypes

Answer 16

Hypersociability and social gregariousness
Problems with joint attention
Inability to detect social danger signals leaving them vulnerable

Question 17

Cognitive weaknesses

Answer 17

Low IQ

Visuospatial skills

Question 18

Cognitive strengths

Answer 18

Language (delayed, skewed)
Face recognition and memory
Music

Question 19

Other cognitive phenotypes

Answer 19

Altered timelines

Elaborate stories

Question 20

Mental health concerns

Answer 20

Generalised and anticipatory anxiety
Depression
Panic attacks
50% have specific phobia

Question 21

Medical conditions

Answer 21

Cardiovascular issues
Ear infection 
Gastrointestinal issues
Hypercalcemia 
ADHD

Question 22

Prevelance

Answer 22

1 in 7500

Question 23

Genetic diagnosis

Answer 23

FISH test

Question 24

Penetrance and expression

Answer 24

100% and variable

Question 25

Type of disorder

Answer 25

Autosomal

Question 26

Atypical case presents like

Answer 26

ASD