Communicative and cognitive functioning in Angelman syndrome with UBE3A mutation: a case report

Angelman syndrome (AS) is a neurodevelopmental disorder characterized by a severe intellectual disability, severe expressive language deficits, ata xia and a specific behavior with easy excitability excitable personality and an inappropriately happy predisposition. Phenotypical variations have been described on the basis of the underlying genetic mechanism. Several reports have suggested that individuals with AS resulting from UPD, UBE3A mutations and imprinting mutations show a milder or atypical phenotype than that observed in patients with a deletion of 15q11-q13 re gion. The purpose of this study is to describe cognitive and adaptive fun ctioning in a child with AS resulting from UBE3A gene mutation, and especially the linguistic development, verbal and mimic-gestual, whose in ventory and use are greater than those reported in literature.