Williams Syndrome

Question 1

What is Williams Syndrome?

Answer 1

A rare genetic abnormality (1/7500) which affects the gene for elastin and makes the individual appear ‘hypersocial’

Question 2

How was WS diagnosed previously?

Answer 2

Failure to thrive in infancy, hypercalcemia or cardiovascular disease

Question 3

How is WS diagnosed now?

Answer 3

A genetic test: FISH (fluorescent in situ hybridisation) which involves 2 probes

Question 4

What causes WS?

Answer 4

A deletion on chromosome 7 affecting genes including lim-kinase and elastin. The green probe shows chromosome 7 and the pink probe shows the deleted areas in WS

Question 5

What is the classic cognitive profile of WS?

Answer 5

Good language, good face recognition, low IQ and poor spatial abilities

Question 6

How do WS individuals perform on the story study?

Answer 6

Bellugi et al 1996. More complex story but less sense and more grammatical error than a similar age with downs syndrome (simpler story but more sense)

Question 7

How do WS individuals perform on spatial tests?

Answer 7

Poor on global organisation. Lose overall configuration and focus on detail

Question 8

How do WS individuals perform on face recognition tests?

Answer 8

Show excellent Benton face matching task performance, even when it is difficult for those without WS. Perform at same level as chronological age and better than mental age

Question 9

How do WS individuals perform on IQ tests?

Answer 9

Performance on WISC-R block design subtest is often so poor that it cannot be assessed

Question 10

What is the assumed process for facial recognition in humans?

Answer 10

From studies such as the Thatcher illusion, it has been suggested a specialised face specific configural coding mechanism exists. Face recognition is thought to be dependent on ability to code configuration

Question 11

How was it assumed that WS individuals code faces?

Answer 11

Very poor at processing configuration but good at face recognition. Assumed preserved module for coding facial configuration, which assumes face processing is good, the method of face recognition is normal, and there is a normal developmental profile

Question 12

How do WS individuals actually code faces?

Answer 12

Expression recognition is poor, especially if featural cues are removed. They use an abnormal ‘featural’ strategy (performance poor when this cannot be used and better when configural strategy cannot be used). Does not develop but appears fixed from an early age (probably due to limited configural coding ability). Therefore face processing in WS is not ‘spared’

Question 13

Why does face recognition appear to be so good in WS if it is not spared?

Answer 13

Possible practice and learning effects due to particular interest in faces during development. Notion of a different developmental pathway and progressive modularisation governed by domain relevant biases

Question 14

How does the FFA differ in WS?

Answer 14

FFA enlarged due to increased overlap with object selective areas, and it is functional (Golarai et al 2010). No comparable difference in other face related areas like amygdala or STS. Projection from fusiform to more areas (Hass et al 2011)

Question 15

How is hypersociability seen in WS?

Answer 15

Look more at faces. Engage experimenter rather than experiment. 64% teachers remarked spontaneously on friendliness. Friendly to strangers (problem) and tendency to approach strangers

Question 16

Why is the idea that WS see others as approachable because of their own friendly personality, too simple?

Answer 16

Individuals are often socially anxious and depressed, as well as socially isolated with difficulty maintaining friendships. More likely is idea of a social compulsion (especially as the frontal cortex is similar to in OCD)