Neuropsychological profile of people with Williams Syndrome (WS)

International audienceWilliams syndrome (WS) is a genetic neurodevelopmental disorder (prevalence close to 1 in 20,000-30,000 births) resulting from the deletion of 16-25 genes on the long arm of Chromosome 7 (Scherer & Osborne, 2006). Individuals with WS have an intelligence quotient of 40-70 (Howlin, Davies, & Udwin, 1998). Theirs is a unique neuropsychological profile, characterized by an apparent dissociation between cognition and language, as language is relatively well preserved, compared with other cognitive skills (Karmiloff-Smith, et al., 2004; Martens, Wilson, & Reutens, 2008). However, a more complex profile is now emerging, with good lexical, short-term memory (especially auditory-verbal) and face processing skills, but visuospatial (especially local processing of information), executive (planning and inhibition), memory (working memory and long-term) and attentional deficits (Bellugi, Lichtenberger, Jones, Lai, & George, 2000; Schmitt, Eliez, Warsofsky, Bellugi, & Reiss, 2001; Fayasse & Thibaut, 2003; Menghini, Addona, Costanzo, & Vicari, 2010; Costanzo et al., 2013; Dessalegn, Landau & Rapp, 2013)