Communication skills in Angelman Syndrome: Matching phenotype to genotype

Abstract

Angelman syndrome (AS) is a neurogenetic disorder caused by maternal deletions of 15q11-13 (classic deletion), paternal uniparental disomy (UPD), imprinting defects, and point mutations or small deletions in the UBE3A gene. It has been suggested that there is a correlation between the genetic mechanism and the behavioural and developmental phenotype, though there is as yet limited evidence concerning communication phenotypes in Angelman syndrome. The aim of the study was to establish whether there is a difference in communication phenotypes to parallel the different genetic mechanisms causing AS. The hypothesis tested was that children and young people with the classic deletion would have lower levels of developmental skills than those with non-deletion AS. Seven children/young people with a classic deletion were matched for age and gender with participants with imprinting defect or UPD. Assessments covered a number of domains of communication: comprehension, production and pragmatic use of language, comm...