Cognitive profile in William syndrome: a case study

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 disadaptive 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 individualised rehabilitation programme, the focus of which was to improve weak areas of performance.
This paper was supported partially by Fundação para a Ciência e Tecnologia (Grant: SFRH/B/PD/9396, SFRH/BD/1609/2004 and POCI/PSI/58364/2004).