Lecture 3 William's Syndrome

Question 1

What is William’s Syndrome?

Answer 1

A neurodevelopmental disorder that impacts upon an individual's physical, cognitive and behavioural functioning
Involves a genetic diagnosis
Aortic stenosis (narrowing of aortic valve opening), learning difficulties, and distinct facial features

Question 2

What is the genetic basis of WS?

Answer 2

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

Question 3

What is the prevalence of WS?

Answer 3

Varies from 1 in 7,500 to 1 in 20,000

Question 4

What are the facial features of WS?

Answer 4

Elfin like, broad brow, flat nasal bridge, short upturned nose, wide mouth, full lips, irregular dentition

Question 5

What are the differences in the brain in WS?

Answer 5

The majority of studies use MRI:

• Total brain and occipital grey matter volumes are significantly reduced = visuo-spatial processing
• Amygdala and ventral prefrontal grey matter volumes are significantly increased compared with controls = processing of risk/fear/inhibition of emotion

Question 6

What is the cognitive profile of WS?

Answer 6

Mild-moderate learning disability
Mean FSIQ 50-60; stable over time
Relative strengths in language (average VIQ = 63)
Relative strength in face processing and musical ability
Poor visuo-spatial processing (average PIQ = 55)

Question 7

What are the relative strengths in language for WS?

Answer 7

Speech production
Phonological STM
Repetitive vocabulary
Grammatical abilities

Question 8

What are the relative difficulties in language for WS?

Answer 8

Pragmatics

Reciprocal conversation

Question 9

What are the visuospatial abilities in WS?

Answer 9

Poor ability in pattern construction and block design tasks

• Perhaps related to motor planning deficits

Question 10

How is attention measured in WS (Anti-S)?

Answer 10

The anti-saccade task is used.
Individuals are required to orient their eyes away from suddenly appearing peripheral flashes and direct their eye movements to the opposite side of the screen
To do this they must use a considerable amount of eye movement control

WS individuals had problems with attention disengagement (Cornish et al., 2007)

Question 11

How is attention also measured in WS (OT)?

Answer 11

In the orienting task, automatic orienting of attention to cues (real and false) was required
WS infants displayed greater interference effects of invalid cues, therefore had problems with visual orienting (Cornish et al., 2007)
Problems with attentional control; suggestion of increased distractibility as age increases

Question 12

What are the implications of these attentional difficulties?

Answer 12

Individuals with WS struggle when engaged in attempts at triadic interactions (Mervis, 2003)

Question 13

What are the executive function abilities in WS?

Answer 13

Difficulties with planning, WM and inhibition
Planning - Tower of Hanoi
Spatial WM
Inhibition

Question 14

What is the co-morbidity with WS?

Answer 14

ADHD (65%), problems with hyperactivity
Specific phobias, WS individuals have problems with fear and anxiety (54%)
Increases in GAD with age

Question 15

What are common fears in children with WS?

Answer 15

Failure/criticism
The unknown
Spooky things

Question 16

What are specific fears in children with WS?

Answer 16

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

Question 17

What is the behavioural profile of WS?

Answer 17

Friendly, empathetic, social, affectionate, little restraint towards unfamiliar people
socially vulnerable - stranger danger

Question 18

How are WS and ASD different?

Answer 18

WS are hyper-sociable, empathetic and have a strength in language
ASD are aloof, withdrawn, have social and communicative impairments

Question 19

What do WS and ASD have in common?

Answer 19

distractibility, inflexibility, ritualism, obsessive, pragmatic deficits

Question 20

What are some considerations for WS?

Answer 20

Due to good language skills, ability of WS may be overestimated
Vulnerable

Question 21

What are observed similarities between WS and DS?

Answer 21

Parents of toddlers with either WS or DS reported that their children displayed similar two year delays in language acquisition

Question 22

How else can WS be diagnosed?

Answer 22

Through fluorescent in situ hybridisation (FISH)

Question 23

What can be seen in language used for spatial location?

Answer 23

The comprehension and production of language used to describe spatial location has been shown to be impaired in WS

Question 24

What are the impairments in visuospatial processing in WS?

Answer 24

Children with WS have a deficit in processing the global aspects of visuospatial stimuli and show a bias in processing local features

• Stems from a motor planning deficit related to a weak dorsal stream