Williams Syndrome

Question 1

diagnosis

Answer 1

• common facial features
• cardiovascular disorders
• kidney, bladder and gastrointestinal difficulties
• hypersensitive hearing
• developmental delay
• poor motor skills

A diagnosis of WS is only given following a genetic test so diagnosis is made on this basis.
Clinicians may suspect WS based on facial features and parental report of cognitive and behavioural characteristics but diagnosis is made on a genetic basis alone.

Question 2

common facial features

Answer 2

broad brow 
flat bridge of nose 
short upturned nose 
wide mouth 
large lips

Question 3

genetic diagnosis

Answer 3

hemizygous (1 of pair) deletion of 26-28 genes on chromosome 7q11.23
- genetic diagnosis comes from fluorescence in situ hybridisation test (FISH)

Question 4

cognitive profile

Answer 4

• mild to moderate learning difficulties
• mean full scale IQ (FSIQ) is 50-60 (range from 40-100)
• verbal IQ (VIQ) = 63 (relative strength)
• relative strength in face processing
• poor visuospatial processing (PIQ = 55)
• struggle with number, special relations and abstract reasoning
• social, friendly and endearing

Question 5

behavioural profile

Answer 5

• strength in muscle ability
• social, friendly and endearing
• empathetic
• affectionate
• little restraint towards unfamiliar people (stranger danger)
• strange fears (96%)

Question 6

differences in the brain

Answer 6

Reiss et al (2004)

• majority of studies use MRI (structural scans)
• total brain and occipital grey matter volumes preserved compared to white matter (however, other studies find grey matter also reduced)
• limbic system tends to be preserved, amygdala tends to have increased in size (link to hyper-sociability)
• lower part of prefrontal area tends to be increased (cognition and behaviour)
• occipital grey matter reduced (visuospatial processing)
• amygdala and limbic system increased (alters feelings of risk/fear/inhibition of emotion)

Question 7

research methods to understand WS

Answer 7

• language (Brock, 2007)
• visuospatial abilities (Farran and Jarrold, 2003)
• attention (Cornish and Karmiloff-Smith, 2007)
• executive function (Rhodes et al, 2010)

Question 8

Brock (2007)

Answer 8

naming picture cards in experimental studies

[relative strengths]
\+ speech production (word fluency)
\+ phonological short term memory 
\+ receptive vocabulary (understanding)
\+grammatical abilities

[relative weaknesses]

• pragmatics (context contributed to meaning)
• reciprocal conversation

Question 9

Farran and Jarrold (2003)

Answer 9

a) pattern construction [DAS]
b) block design [WASI]

• poor ability in visuospatial abilities (perhaps related to motor planning deficit)
• tests have been standardised (uses many times with typically developing children) to act as a comparison

Question 10

Cornish & Karmiloff-Smith (2007)

Answer 10

• compares performance between FXS, WS and control (MA matched)
• used anti-saccade task
• P’s required to orient away from suddenly appearing peripheral flash and direct eye movement to contralateral location
• WS = struggle to disengage to rewarding stimulus location
• used orienting task
• automatic orienting of attention
• fixation cross, flash to one side, rewarding target appears on same/opposite side
• how quick can p’s direct their attention
• WS = high interference effect from invalid cues (leading to distractibility in older ages)

Question 11

Rhodes et al (2010)

Answer 11

• difficulties with planning, wm and inhibition

- tower of Hanoi - move entire stack of discs to another rod (planning)

Question 12

comorbidity

Answer 12

• ADHD = 65% (hyperactivity)
• specific phobia = 54% (fear and anxiety)
• behaviours persist into adulthood
• generalised anxiety with age