Cognitive profile in William syndrome : a case study

• Autor(es): Gonçalves, Óscar F. ; Fernández Prieto, Montserrat ; Sampaio, Adriana ; Pérez, Avelina ; Henriques, Margarida Rangel ; Lima, Margarida Reis ; Siebert, Manuel Fuster ; Sousa, Nuno ; Carracedo, Ángel
• Data: 2005
• Identificador Persistente: http://hdl.handle.net/1822/3133
• Origem: RepositóriUM - Universidade do Minho
• Tipo de Documento: Artigo
• Idioma: Inglês

Descrição

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.