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SLD 5

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Term
Definition
Cause of WS   97% have deletion of ELN, gene for elastin, on chromosome 7--there is a 50% chance of parents trasmitting this mutation to offspring  
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Physical features of WS   elfin-like facial features, short up-turned nose, long philtrum, broad forehead, full cheeks, puffiness under eyes, prominent earlobes  
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Prevalence of WS   1 in 20,000 people, equally prevalent in males and females, all races and cultures, equally likely to be transmitted by father or mother  
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Medical features of WS   SVAS (supravalvular aortic stynosis, narrowing of aortic artery), hypercalcemia (too much calcium in blood), cardiac disease, hypertension, coordination difficulties, short stature, strabismus, hyperacusis, chronic otitis media  
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Strengths of WS   auditory short-term memory, facial recognition and memory, theory of mind, musicality  
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Weaknesses of WS   visual-spatial construction, perceptual planning, fine motor control  
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Linguistic features of WS   delays in language acquisition in young children, but adolescents and adults may show remarkable language skills  
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Linguistic strengths of WS   lexicon/vocab, auditory short-term memory, syntax  
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Linguistic weaknesses of WS   delay of first words, prelinguistic skills, pragmatics  
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Adaptive living abilities of WS   daily living skills show moderate delay (lower rhythmicity); may be socially uninhibited--can lead to exploitation, difficulty making and keeping friends (talk too much, get caught up in drama), worriers (anxiety, obsessions, preoccupations, fears)  
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Diagnosis of WS   based on SVAS, developmental delay, infantile hypercalcemia, facial appearance, cognitive impairment, and overly friendly personality  
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Intervention Strategies of WS   minimize distractions, manage sound sensitivities, utilize a verbal approach, pragmatics training, music treatment, address family stress  
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