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 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).