Williams Syndrome Flashcards
What causes Williams Syndrome?
approximately 25-28 genes missing from chromosome 7.
What genes are missing from the edited chromosome in Williams Syndrome?
- Elastin (ELN) gene
- The LimKinase (LIMK1) gene
- The F2D2 gene
Prevalence of Williams Syndrome
Approximately 1 in 20,000.
Medical phenotype of Williams Syndrome
- Wide smile and open mouth
- Depressed nasal bridge with broad nasal tip
- Broad forehead, flattened midface
- Extremely common oral/dental problems
Medical Issues in Williams Syndrome
- Extreme infant colic
- Feeding difficulties and failure to thrive as a newborn
- Hypercalcaemia (infantile hypercalcaemia)
Common cause of death in Williams Syndrome
Cardiovascular abnormalities (Pober et al., 2010)
Prevalence of cardiovascular abnormalities in Williams Syndrome
Around 80% (Collins et al., 2010a)
Morris and Mervis (2000)
Full scale IQ scores in region 40-90 which means they have mild to moderate learning difficulty.
Porter et al (2007)
Longer range in IQ scores in people with Williams Syndrome
Rosner et al (1994) - Strengths and Weaknesses
More proficiency in face perception, language, social skills. Less proficiency in spatial cognition, number skills.
Wang and Bellugi (1993) - Spacial Processing
Relative weakness for spatial processing. Bias for ‘local’ rather than ‘global’ detail.
Grant et al (2002), Karmiloff-Smith et al (2006), Laing et al (2002)
Language difficulties in those with Williams Syndrome
Rhodes et al (2011) - Spatial and verbal skills
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).
Carney et al (2013)
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
Costanzo et al. (2013) - Executive functions
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.
Social Phenotype of Williams Syndrome
- 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
Riby and Hancock (2008)
Williams Syndrome is associated with a higher tendency for prolonged face fixations but there will be individual variability within the disorder.
Lough et al (2016)
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”
Riby et al (2014) - Stranger Danger
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
Hsu and Lv (2022)
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.
Anxiety in Williams Syndrome
The rate of anxiety disorder in individuals with Williams Syndrome is approximately 48% (Royston et al, 2009)
Gilloly et al (2021) - Peer relationships
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.
Lai et al (2021)
Williams Syndrome is sometimes viewed as the opposite of ASD in terms of sociability and social behaviours.
Niego and Benitez-Burraco (2020)
There are differences and similarities in sociability, cognition and language.
Mervis and John (2010)
Provided an overview of aspects of intervention
* Applied Behaviour Analysis (Stimulus-response-feedback)
* Social skills training
* Language interventions
* Reading interventions
