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 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.