Williams Syndrome Flashcards
Williams syndrome
a neurodevelopmental disorder that impacts upon an indivduals physical, cognitive and behavioural functioning
-first identified by Williams, Barrat-Boyes and Lowe (1961)
common problems
aortic stenosis (narrowing of arteries to heart)
learning difficulties
distinct facial features
Genetic diagnosis
hemizygous deletion of approximately 26-28 genes on chromosome 7q 11.23
(hemizygous deletion = on one of the chromosome pairs)
on chromosome there are 2 segments:
p = shorter segment
q = longer segment
(so, deletion is on longer segment)
facial features
elfin- like broad brow flat nasal bridge short upturned nose full lips irregular dentition (morris, Mervin et al) -- teeth tend to be more spaced apart
differences in the brain
majority of studies use MRI
total brain and occipital grey matter volumes are significantly reduced in WS = difficulties visuospatial processing
- limbic system tends to be preserved
-amygdala and ventral prefrontal grey matter volumes are significantly increased compared with controls
= difficulties processing risk/ fear/ inhibition of emotion
Cognitive profile of Williams syndromr
mild-moderate learning disability
mean full scale IQ (FSIQ) 50-60 (range 40-100); stays stable over time
-relative strengths in language (verbal IQ = 63)
-relative strength in facial processing
-poor visuospatial processing (average performance IQ =55)
-strength in musical ability
Research design considerations
‘relative strengths’ means?
control group characteristics?
relative strengths = ability in one skill relative to their own ability in other skills
control group characteristics:
- age matched (matched to MA rather than CA often)
-general ability matched
-other neurodev disorders?
Language in WS
relative strength in?
relative difficulties in?
strengths:
-speech production (word fluency)
-phonological STM
- receptive vocab (understand complex language)
-grammatical abilities –> syntax (rules that govern sentence structure ie. word order)
difficulties:
- pragmatics (the way in which context contributes to meaning ie. ability to work out intended meaning)
- reciprocal conversation (may struggle with back and forth convo)
Visuospatial abilities in WS
pattern construction
block design
- Poor ability in WS = could be related to motor planning deficit
Attention in WS (and FXS)
anti-saccade task
Anti-saccade task (Cornish et al)
-neurotypical control used: same MA (matched on IQ)
- participant required to orient away from suddenly-appearing peripheral flashes and direct eye-movements to the contralateral location = deploy voluntary eye-movement control (shift attention)
== WS kids had trouble doing this = problems with attentional disengagement
Attention in WS (and FXS)
orienting task
Cornish et al
- kids with WS displayed greater interference effects of invalid cues than those with FXS = shows WS have greater difficulties in disengaging from an attended location
= problems with visual orienting
-problems with attentional control
- suggestion of increased distractibility as age increases
Implications of attentional difficulties in WS
may explain why they have problems with: joint attention reciprocal communication following gaze triadic interaction (may get too fixated on things)
Executive function difficulties? Tower of Hanoi CANTAB card switching task
difficulties planning, working memory and inhibition
planning- Tower of Hanoi (logic and problem solving)
- CANTAB - spatial working memory –> open boxes and find blue box (systematically search) - this is difficult if you struggle planning
- Inhibition - card switching task (sort by colour/number etc) -those with WS stuggle
Co-morbidity
ADHD (65%) - problems with hyper activity
specific phobia (54%) - problems with fear and anxiety processing
behavioural features persist into adulthood
increased generalised anxiety disorder with age
persistent anxiety and behavioural disturbance
psychiatric disorders
Fear in WS
common fears: failure/criticism, unknown, spooky things
specific fears: burned in a fire, getting lost
behavioural profile?
friendly, empathetic, social, affectionate, little restraint with unfamiliar people, socially vulnerable, don’t understand stranger danger
WS and Autism
similar or different?
1st thought = different and complete opposite BUT commonalities: distractability inflexibility ritualism obsessiveness pragmatic deficits
WS considerations
due to good language skills, ability may be overestimated
vulnerability
