William's Syndrome Flashcards
What is Williams Syndrome?
A Neurodevelopmental disorder that impacts upon an individuals’ physical, cognitive and behavioural functioning
First identified by who and when?
Williams, Barrat-Boyes and Lowe (1961)
What features first indicated the disorder?
Aortic stenosis
Learning difficulties
Distinct facial features
Genetic diagnosis of WS
Hemizygous deletion of approximately 26-28 genes on chromosome 7q11.23
Prevalence of WS
Disagreement about how rare it is
1/7500 (Stromme et al., 2002)
1/20000 (Morris et al., 1998)
Facial features of WS
Elfin like Broad brow Flat nasal bridge Short upturned nose Wide mouth Full lips Irregular dentition
Differences in the brain in WS
Total brain and occipital grey matter volumes are significantly reduced
Amygdala and ventral prefrontal grey matter volumes are significantly increased compared to controls
What do the differences in the brain mean?
Visuo-spatial processing difficulties in WS
Processing of risk/rear/inhibition of emotion increased
Mean FSIQ scores in WS
50-60 (range 40-100)
Are IQ scores stable over time in WS?
Yes
Relative strengths in language in WS?
Speech production (word fluency)
Phonological short-term memory
Receptive vocabulary
Grammatical abilities (syntax)
Relative difficulties in language in WS?
Pragmatics (context contributing to meaning)
Reciprocal conversation
Visuospatial abilities in WS
Pattern construction and block design show poor ability in WS
Related to motor planning deficit?
Attention in WS - Cornish et al. (2007)
Compared participants with FXS, WS and mental-age matched controls
Participants had to orient away from suddenly appearing flashes and direct eye movement to the contralateral location in space
Participants with WS really struggled
Participants with WS have problems with attention disengagement
Attention in WS - orienting task
Looked at automatic orientation of attention
Started with a fixation cross and then a flash appeared on one side or the other and then a rewarding target appears
The flash was not predictive of where the rewarding target would be
How quickly the participants could orient their attention to the rewarding stimulus was measured
WS infants displayed greater interference effects of invalid cues than those with FXS
What does the orienting task show us about WS infants?
They have greater difficulties in disengaging from an attended location
Suggests problems with visual orienting in WS
Implication of attentional deficits in WS?
These difficulties are documented in infants with WS engaging in triadic interactions
Problems with keeping eye gaze when they are interacting with more than one person at a time
Executive functioning in WS
Difficulties with planning, working memory and inhibition
Spatial working memory in WS
Shown red boxes on black background
Have to search through them to see which ones are blue inside
Neurotypical participants may systematically work through the boxes one by one, WS infants did not do this
Difficulties in spatial working memory for WS infants mean that they forget which ones they have already looked in
Also associated problems with planning may mean that these infants do not have a clear strategy for working through them
Inhibition in WS
Card switching task
Asked to sort cards by number, colour, shape etc.
Having to constantly switch between which rules to sort by
WS struggle with this
Co-morbidity in WS
ADHD = 65%
Specific phobia (54%)
Increases in GAD with age
Common fears in WS
Failure/criticism
The unknown
Spooky things
Specific fears in WS
Being burned in a fire
Getting lost
Being in a fight
Being hit by a car
Behavioural profile of WS
Friendly Empathetic Social Affectionate Little restraint towards unfamiliar people
