William's Syndrome

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  1. What is William’s Syndrome?
    • very rare genetic disorder (1 in 7000)
    • significant intellectual impairment
    • attracts a lot of research interest because we know the genes involved
  2. Environmental Causes of WS
    • environment doesn’t contribute to the cause of WS it’s a genetic disorder
    • therefore very little research
  3. Phenotype 1: Facial features
    • widely spaced eyes
    • wide mouth with full lips
    • widely spaced teeth
  4. Phenotype 2: Health concerns
    • Cardiac problems
    • feeding difficulties
    • connective tissue abnormalities
  5. Phenotypes 3: behaviour
    • extremely social but limited understanding of social norms
    • difficulty making and maintaining friendships
    • high rates of co-morbidity with: ADHD; ASD (some aspects); Anxiety disorders (particularly around social situations); Depression (increasing problem in adulthood)
  6. Genetics
    • William’s deletion region on chromosome 7
    • around 25 genes just deleted
    • One of the genes, Elastin (ELN), is implicated in heart defects and tissue abnormalities
    • use FISH technique to tag genes which determines whether or not that gene is present in the individual
    • If ELN is not present they can be certain that the child has WS
  7. What are the effects of these genes?
    • sometimes can have complete deletion but there are individuals with partial deletion
    • can make comparisons between those with the full/partial mutation to get clues about genes are responsible for what
    • LIMK1 = spatial deficit (those who have gene are better than those who don’t) but not always found in other studies
    • deleting LIMK1 in mice impaired spatial ability but spatial task in humans an d mice are different
    • reduced brain size overall but particularly in the intraparietal sulcus, hypothalamus and the orbitofrontal cortex
    • problems with the cerebellum
    • corpus callosum shape changes
    • visual cortex in particular experiences altered cell size and density
  9. Intraparietal sulcus
    perceptual-motor coordination (for directing eye movements and reaching) and visual attention.
  10. Hypothalamus
    to link the nervous system to the endocrine system via the pituitary gland
  11. Orbitofrontal cortex
    cognitive processing of decision-making
  12. Cerebellum
    motor control
  13. Corpus callosum
    facilitates hemispheric communication
  14. What do we use double dissociations for?
    • to argue that WS is the opposite of SLI and ASD
    • e.g. ASD lack of social, WS very social
  15. Deficit in visuo-spatial construction
    • to answer this take another group who are also intellectually impaired and see if WS are worse on visuo-spatial tasks
    • If they are worse, then their visuo-spatial skills are worse than expected for their non-verbal IQ
    • WS children have visuo-spatial skills for worse than expected verbal abilities
    • poor drawing of an elephant but very vivid language description of an elephant
    • Visuo-spatial skills are generally distinct from other cognitive abilities
  16. Intact language ability?
    • WS teen able to tell a story about the escape of a frog from a jar
    • Included key element plus extra info (e.g. weather)
    • DS teen could not tell the story i.e. it lacked key element of escape
    • same IQ and age
  17. REILLY et al 2004
    • Frog story as told by SLI children and WS children
    • WS can give a much better resolution to the end of the story than the SLI children
  18. Degree of language impairment
    • delayed language acquisition
    • early language and cognitive development closely linked
    • receptive language better than other aspects of language such as poor relational vocab (under) and abstract knowledge
    • Pragmatic language deficits (WS are very literal)
  19. REILLY et al 2004 narrative skill similarities
    • amount of words and sentences said
    • morphosyntactic errors (past tense, conjugations, plurals)
    • grammatical complexity
  20. REILLY et al 2004 narrative skill differences
    • WS more likely to make evaluative comments
    • commented on affective states of characters
    • used character speech
    • used emphatic speech (to draw audience in)
    • Due to hyper-social ability?
  21. Hyper-social ability
    • very friendly, talkative and socially disinhibited
    • very good at recognising facial emotions though they may be using different cognitive/neurobiological strategies than normal
    • reason for difference because WS children spend more time looking the face than those with ASD and in TD
  22. RIBY & HANCOCK 2008 AIM
    to look at the difference between TD, ASD and WS for looking at a scene
    • used eye tracking devices to look at how someone examined social scenes
    • WS and ASD groups matched to peers on age and matrix reasoning ability
    WS spent most the time fixating on the faces (particularly the eyes) of the scene and nothing else, ASD spent more time looking at background than the other 2 groups
  25. Similarities to ASD
    • difficulties with peers
    • impairments in FB
    • poor understanding of social norms
    • pragmatic language difficulties
  26. Differences to ASD
    • social disinhibition makes children more vulnerable to exploitation
    • difficulties gaining maintain employment
  27. Executive dysfunction explains hyper-social ability
    • Impairments in
    • inhibition
    • planning
    • monitoring
    • selective attention
  28. Motor skills deficit explains hyper-social ability? Sticky fixations so have problems on visual search and poor joint attention
  29. CORNISH et al 2012 aim
    look at attention and reading ability in those with DS and WS
  30. CORNISH et al 2012 procedure
    • longitudinal study
    • Measured: behavioural inattention, receptive vocab, letter knowledge, phonological awareness and reading
  31. CORNISH et al 2012 results
    • attention deficits worse in WS than DS but both worse than controls
    • Reading ability was matched at T1 and 2 but there was a difference in communicative abilities in vocabulary
    • Deficit only predicted poorer literacy in DS = syndromes have difficulty focusing on different things
    • i.e. the disorders have "syndrome-specific attention deficits"
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William's Syndrome
2013-05-25 10:19:48

Lecture 3
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