L3 Williams syndrome

Question 1

What is Williams syndrome?

Answer 1

Is a genetic disorder which affects the growth of many body parts; has impacts on cognitive and behavioural functioning

Question 2

What is the cause of Williams syndrome?

Answer 2

Is caused by the deletion of roughly 26-28 genes on chromosome 7q11.23

Question 3

How is Williams syndrome diagnosed?

Answer 3

Can be done by testing for deletion of genes on 7q11.23, however, because it’s not always obvious, typically diagnosis occurs around 4 years old when cognitive and physical atypicality emerges. Can be done by a doctor who will look for Elfin like facial features, and other problems which are common like heart and renal problems.

Question 4

What is the prevalence of Williams syndrome?

Answer 4

Not clearly know, however, estimated to be between 1/7,500 - 1/20,000

Question 5

What are the Facial features of Williams syndrome?

Answer 5

Facial:

• broad short nose
• Elfin like features
• wide mouth and full lips
• irregular teeth
• puffy eyes

Question 6

What are the brain differences in Williams syndrome?

Answer 6

Martins (2008) MRI study on children with Williams syndrome. found;

• Reduced total grey matter
• Reduced occipital grey matter
• Increased amygdala grey matter
• Increased ventral prefrontal grey matter

Question 7

How are these linked to some of the qualities seen in someone with Williams syndrome?

Answer 7

Reduced occipital grey matter linked to Poor visual-spatial processing

Reduced total grey matter linked to intellectual disabilities

Increased amygdala grey matter linked to fears/ specific phobias

Question 8

What is the general cognitive profile of someone with Williams syndrome?

Answer 8

Cognitive profile:

• Mild to moderate learning disabilities
• IQ = 50-60 (wide range of 40-100), and is stable over time
• poor visual-spatial ability (WASI & Block design task)
• strength in musical ability
• poor performance on attention tasks (both voluntary and involuntary)
• poor Executive Function; planning, spatial working memory (tower of Hanoi task)

Question 9

Discuss some of the strengths and weaknesses of Language abilities in Williams syndrome

Answer 9

Relative strength in:

• speech production
• phonological STM
• receptive vocabulary
• grammatical ability

Weakness in:

• pragmatics (context of speech)
• reciprocal conversation

Question 10

What other conditions is Williams syndrome commonly associated with?

Answer 10

Comorbidity:

• ADHD (65%)
• Specific Phobias (54%); burned/lost/being in fight/ hit with cars
• GAD

Question 11

What is the behavioural profile of Williams syndrome?

Answer 11

• Friendly
• Sociable
• Trusting
• Affectionate
• Empathetic