Williams Syndrome

Question 1

What causes Williams Syndrome?

Answer 1

approximately 25-28 genes missing from chromosome 7.

Question 2

What genes are missing from the edited chromosome in Williams Syndrome?

Answer 2

1. Elastin (ELN) gene
2. The LimKinase (LIMK1) gene
3. The F2D2 gene

Question 3

Prevalence of Williams Syndrome

Answer 3

Approximately 1 in 20,000.

Question 4

Medical phenotype of Williams Syndrome

Answer 4

• Wide smile and open mouth
• Depressed nasal bridge with broad nasal tip
• Broad forehead, flattened midface
• Extremely common oral/dental problems

Question 5

Medical Issues in Williams Syndrome

Answer 5

• Extreme infant colic
• Feeding difficulties and failure to thrive as a newborn
• Hypercalcaemia (infantile hypercalcaemia)

Question 6

Common cause of death in Williams Syndrome

Answer 6

Cardiovascular abnormalities (Pober et al., 2010)

Question 7

Prevalence of cardiovascular abnormalities in Williams Syndrome

Answer 7

Around 80% (Collins et al., 2010a)

Question 8

Morris and Mervis (2000)

Answer 8

Full scale IQ scores in region 40-90 which means they have mild to moderate learning difficulty.

Question 9

Porter et al (2007)

Answer 9

Longer range in IQ scores in people with Williams Syndrome

Question 10

Rosner et al (1994) - Strengths and Weaknesses

Answer 10

More proficiency in face perception, language, social skills. Less proficiency in spatial cognition, number skills.

Question 11

Wang and Bellugi (1993) - Spacial Processing

Answer 11

Relative weakness for spatial processing. Bias for ‘local’ rather than ‘global’ detail.

Question 12

Grant et al (2002), Karmiloff-Smith et al (2006), Laing et al (2002)

Answer 12

Language difficulties in those with Williams Syndrome

Question 13

Rhodes et al (2011) - Spatial and verbal skills

Answer 13

Examined verbal and spatial working memory in individual with Williams Syndrome. Williams Syndrome struggled with verbal short term memory, verbal executive, spatial short term memory and special executive (spatial short term memory is not significant).

Question 14

Carney et al (2013)

Answer 14

Participants with Williams Syndrome had significantly lower scores than typically developing controls on:
* Visuo-spatial working memory
* Visuo-spatial fluency
* Visuo-spatial inhibition (response time)
* Verbal inhibition (errors made)
* Verbal set-shifting cost

Question 15

Costanzo et al. (2013) - Executive functions

Answer 15

Examined executive functions in individuals with Williams Syndrome, Down Syndrome, and typically developing controls. Differences in attention, working memory, planning, categorisation and shifting, and inhibition.

Question 16

Social Phenotype of Williams Syndrome

Answer 16

• Strong interest in faces and people
• Not understanding appropriateness of behaviours and personal distance
• Hyper sociability and a lack of stranger danger awareness
• These things may cause peer difficulties, social isolation, and potential social vulnerability

Question 17

Riby and Hancock (2008)

Answer 17

Williams Syndrome is associated with a higher tendency for prolonged face fixations but there will be individual variability within the disorder.

Question 18

Lough et al (2016)

Answer 18

Completed qualitative study asking parents about their child’s sociability
* “She’s not got boundaries … if she was going to talk to someone she would put her hand on their knee or arm, she would break that personal space…”
* “… he will hold hands and try and hug people, whether he knows someone or not is irrelevant”
* “He’ll even shout hello to people he doesn’t know”

Question 19

Riby et al (2014) - Stranger Danger

Answer 19

Went through a stranger danger exercise with those with Williams Syndrome and a typically developing control. Individuals with Williams Syndrome gave less appropriate answers than controls, and showed a lack of awareness about danger

Question 20

Hsu and Lv (2022)

Answer 20

WS participants were given scenarios and asked which emotion was the most relevant. Results showed delayed and deviant responses. There was a delayed response to anger and surprise emotions, but not any other emotion.

Question 21

Anxiety in Williams Syndrome

Answer 21

The rate of anxiety disorder in individuals with Williams Syndrome is approximately 48% (Royston et al, 2009)

Question 22

Gilloly et al (2021) - Peer relationships

Answer 22

Parents and teachers reported that children with Williams Syndrome demonstrated significantly greater peer problems than population norms, including difficulties sustaining friendships and increased social exclusion.

Question 23

Lai et al (2021)

Answer 23

Williams Syndrome is sometimes viewed as the opposite of ASD in terms of sociability and social behaviours.

Question 24

Niego and Benitez-Burraco (2020)

Answer 24

There are differences and similarities in sociability, cognition and language.

Question 25

Mervis and John (2010)

Answer 25

Provided an overview of aspects of intervention
* Applied Behaviour Analysis (Stimulus-response-feedback)
* Social skills training
* Language interventions
* Reading interventions