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Cognitive profile in William syndrome: a case study

Abstract

Williams Syndrome (WS) is a rare neurodevelopmental disorder, approximately occurring 1 in 20 000 live births, caused by a submicroscopic deletion on band q11.22-23 in chromosome 7. Their clinical characteristics include an uneven profile, characterised by physical, developmental and neurocognitive features. They also present desadaptative behaviours, with a strong impulse to social contact. Given this uneven cognitive, behavioural and neuroanatomic profile, this paper focuses on exploring these specific features. In order to do this, we used a broad neuropsychological battery and analysed the data to design an individualized rehabilitation program, which focus was to improve weak areas of performance.Fundação para a Ciência e Tecnologia - SFRH/B/PD/9396, SFRH/BD/1609/2004. POCTI/PSI/58364/2004)

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