William's Syndrome

Question 1

What is Williams Syndrome?

Answer 1

A Neurodevelopmental disorder that impacts upon an individuals’ physical, cognitive and behavioural functioning

Question 2

First identified by who and when?

Answer 2

Williams, Barrat-Boyes and Lowe (1961)

Question 3

What features first indicated the disorder?

Answer 3

Aortic stenosis
Learning difficulties
Distinct facial features

Question 4

Genetic diagnosis of WS

Answer 4

Hemizygous deletion of approximately 26-28 genes on chromosome 7q11.23

Question 5

Prevalence of WS

Answer 5

Disagreement about how rare it is

1/7500 (Stromme et al., 2002)

1/20000 (Morris et al., 1998)

Question 6

Facial features of WS

Answer 6

Elfin like 
Broad brow 
Flat nasal bridge 
Short upturned nose 
Wide mouth 
Full lips 
Irregular dentition

Question 7

Differences in the brain in WS

Answer 7

Total brain and occipital grey matter volumes are significantly reduced

Amygdala and ventral prefrontal grey matter volumes are significantly increased compared to controls

Question 8

What do the differences in the brain mean?

Answer 8

Visuo-spatial processing difficulties in WS

Processing of risk/rear/inhibition of emotion increased

Question 9

Mean FSIQ scores in WS

Answer 9

50-60 (range 40-100)

Question 10

Are IQ scores stable over time in WS?

Answer 10

Yes

Question 11

Relative strengths in language in WS?

Answer 11

Speech production (word fluency)

Phonological short-term memory

Receptive vocabulary

Grammatical abilities (syntax)

Question 12

Relative difficulties in language in WS?

Answer 12

Pragmatics (context contributing to meaning)

Reciprocal conversation

Question 13

Visuospatial abilities in WS

Answer 13

Pattern construction and block design show poor ability in WS

Related to motor planning deficit?

Question 14

Attention in WS - Cornish et al. (2007)

Answer 14

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

Question 15

Attention in WS - orienting task

Answer 15

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

Question 16

What does the orienting task show us about WS infants?

Answer 16

They have greater difficulties in disengaging from an attended location

Suggests problems with visual orienting in WS

Question 17

Implication of attentional deficits in WS?

Answer 17

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

Question 18

Executive functioning in WS

Answer 18

Difficulties with planning, working memory and inhibition

Question 19

Spatial working memory in WS

Answer 19

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

Question 20

Inhibition in WS

Answer 20

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

Question 21

Co-morbidity in WS

Answer 21

ADHD = 65%

Specific phobia (54%)

Increases in GAD with age

Question 22

Common fears in WS

Answer 22

Failure/criticism
The unknown
Spooky things

Question 23

Specific fears in WS

Answer 23

Being burned in a fire
Getting lost
Being in a fight
Being hit by a car

Question 24

Behavioural profile of WS

Answer 24

Friendly 
Empathetic 
Social 
Affectionate 
Little restraint towards unfamiliar people

Question 25

Levine & Wharton (2000)

Answer 25

‘One of the most striking characteristics of the condition is a unique personality profile that includes a general presentation of exuding happiness’

Question 26

Differences between WS and ASD

Answer 26

ASD

• Aloof, withdrawn
• Social impairment
• Communicative impairment

WS

• Hyper-sociable
• Empathetic
• Strength in language

Question 27

Similarities of WS and ASD

Answer 27

Distractibility 
Inflexibility 
Ritualism 
Obsessiveness 
Pragmatic deficits

Question 28

Musical ability in WS

Answer 28

Mixed evidence

Thought to have good musical ability although this is unclear

Question 29

Martens et al. (2008)

Answer 29

Affinity with music, preserved musical skills, love of music
(In WS)

Question 30

Lenhoff et al. (2001)

Answer 30

Absolute pitch

Question 31

Levitin & Bellugi (1998)

Answer 31

Rhythmic production similar to musically trained children

Question 32

Don et al. (1999)

Answer 32

Tonal and rhythmic abilities commensurate with mental age

Question 33

Don et al. (1999) limitation

Answer 33

15% of the sample were either indifferent to music or displayed an intense dislike to music

Question 34

WS considerations

Answer 34

Ability may be overestimated due to their good language skills

Socially vulnerable due to their over-friendliness

Question 35

Research design considerations

Answer 35

Relative strengths in…
- Relative to what? Other people?

Control group

• Aged matched?
• Other NDDs?
• General ability matched?