Angelman syndrome (AS) is a neurodevelopmental disorder characterized by a severe intellectual disability, severe expressive language deficits, ataxia 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 region. The purpose of this study is to describe cognitive and adaptive functioning in a child with AS resulting from UBE3A gene mutation, and especially the linguistic development, verbal and mimic-gestual, whose inventory and use are greater than those reported in literature.
Communicative and cognitive functioning in Angelman syndrome with UBE3A mutation: a case report
Buono S;
2012-01-01
Abstract
Angelman syndrome (AS) is a neurodevelopmental disorder characterized by a severe intellectual disability, severe expressive language deficits, ataxia 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 region. The purpose of this study is to describe cognitive and adaptive functioning in a child with AS resulting from UBE3A gene mutation, and especially the linguistic development, verbal and mimic-gestual, whose inventory and use are greater than those reported in literature.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
