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Williams Syndrome

SLD 5

TermDefinition
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
Physical features of WS elfin-like facial features, short up-turned nose, long philtrum, broad forehead, full cheeks, puffiness under eyes, prominent earlobes
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
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
Strengths of WS auditory short-term memory, facial recognition and memory, theory of mind, musicality
Weaknesses of WS visual-spatial construction, perceptual planning, fine motor control
Linguistic features of WS delays in language acquisition in young children, but adolescents and adults may show remarkable language skills
Linguistic strengths of WS lexicon/vocab, auditory short-term memory, syntax
Linguistic weaknesses of WS delay of first words, prelinguistic skills, pragmatics
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)
Diagnosis of WS based on SVAS, developmental delay, infantile hypercalcemia, facial appearance, cognitive impairment, and overly friendly personality
Intervention Strategies of WS minimize distractions, manage sound sensitivities, utilize a verbal approach, pragmatics training, music treatment, address family stress
Created by: 100000299709410
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