Williams Syndrome

  • Created by: Jess213
  • Created on: 26-04-18 09:17
Cognitive Genetics vs Neuroconstructivism
CG = we learn a lot through disorders about TD , when cognitive modules are affected in genetic disorders we can determine what genes are involved vs NC = Expressions of genes unfold over time through a nature/nurture combination
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Williams Syndrome a)
WS/SLI = Language WS/Autism = Social ability and WS/DS = Spatial cognition, 1/20,000 with WS, cardiac and dental abnormalities, hypercalcemia, small satature, facial dysmorphology, premature skin aging, horse voice, hyperacusis
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Williams Syndrome b)
Musculoskeletal and renal abnormalities, 50% have a squint or are cross-eyed. They are over friendly, gregarious, empathetic, overactive, poor concentration, anxiety in new places and unfamiliar settings.
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Williams Syndrome c)
Intact language, face recognition, social interaction, but poor IQ (M=60) and impaired spatial/numerical skills. 30 genes have been identified on chromosome 7 which are deleted in WS, these are linked to proteins which code for physical/cognitive fts
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Williams Syndrome d)
Bellugi et al (2001) = WS had an IQ of 49 but was able to describe an elephant pretty well, but was not able to draw an elephant in an organised way (wrong spatial location).
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Language Processing a)
WS is very descriptive; they have good grammar (above 80% correct and 75% context correct) whereas DS scored 30% and 55% respectively; WS have a higher proportion of uncommon words compared to TD or DS, they gave the same number as TD overall
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Language Processing b)
WS patients gave a lot of detail when asked to write a story from a picture, whereas DS gave hardly any expansion, Language abilities were better than DS but not TD, incomplete sentences = 30% 63% and 7% and errors = 22% 60% and 40% (better than TD)
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Language Processing c)
CG = language genes are intact, so should compare genes to SLI/dyslexia vs NC = language system is mature but not intact and thus develops on an unusual trajectory and is atypical, this maturation may give insight into the processes necessary for lan
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Social Interaction a)
WS have higher levels of affective states, empathetic markers (5 vs 2 in TD), evaluative comments (7.5 vs 0.5 TD) and the DS patients were more similar to TD patients, another study showed that WS give more eye contact to novel individuals (15% vs 9%
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Social Interaction b)
However, they have similar eye-contact with parents (5% vs 6%); neurophysiology markers for face recognition differ across WS but in general they have a good ability; larger left and right FFA (3500 vs 2000) and a greater % of cells used in WS
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Social Interaction c)
WS are over empathetic and they perform poorly on ToM and are unable to separate lies and ironic jokes. Thus, they are socially inappropriate e.g. repeating stories
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Social Interaction d)
CG = social inhibition gene appears to be missing in WS thus we could compare it to autism to see which genes are affected; NC = Children of 2-3 months show unusual eye patterns - this may lead to social development
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Spatial Cognition
- WS and DS asked to draw a house, block design and a D made from Ys, the WS patients had poor global abilities whereas DS individual had poor local features e.g. correct D shape but not made from Ys
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Visual Spatial Processing theories 1)
Local processing bias = WS patients focus on local features and ignore global ones (the problem with this is that they are good at facial processing which is also thought to be holistic)
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Dorsal Stream deficit 2)
- This disrupts spatial location - TD 4/5yr olds were worse at motion task compared to ventral task whereas WS children do not show this pattern. Some WS children perform worse on the dorsal task and some perform badly on both. Mixed evidence.
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Dorsal stream deficit 2)
- Evidence for functional hyperactivity and structural abnormalities in the dorsal pathway for WS indivisuals.
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Summary
There is evidence for a complex pattern of deficits in the visuo-spatial domain; local processing does not fully explain these results and some dorsal stream scans show that a dorsal stream is different
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Summary Theories
a) CG = some missing genes in WS must be involved in the dorsal stream development (spatial location) NC = WS may be impaired with spatial cognition because of an abnormality or does the abnormality develop as a result of the WS behaviour?
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Other cards in this set

Card 2

Front

WS/SLI = Language WS/Autism = Social ability and WS/DS = Spatial cognition, 1/20,000 with WS, cardiac and dental abnormalities, hypercalcemia, small satature, facial dysmorphology, premature skin aging, horse voice, hyperacusis

Back

Williams Syndrome a)

Card 3

Front

Musculoskeletal and renal abnormalities, 50% have a squint or are cross-eyed. They are over friendly, gregarious, empathetic, overactive, poor concentration, anxiety in new places and unfamiliar settings.

Back

Preview of the back of card 3

Card 4

Front

Intact language, face recognition, social interaction, but poor IQ (M=60) and impaired spatial/numerical skills. 30 genes have been identified on chromosome 7 which are deleted in WS, these are linked to proteins which code for physical/cognitive fts

Back

Preview of the back of card 4

Card 5

Front

Bellugi et al (2001) = WS had an IQ of 49 but was able to describe an elephant pretty well, but was not able to draw an elephant in an organised way (wrong spatial location).

Back

Preview of the back of card 5
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