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Communication skills in Angelman syndrome: Matching phenotype to genotype

Lookup NU author(s): Emerita Professor Helen McConachie



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, communication modes and oro-motor skills. A significant group difference was found for five of the nine variables measured. Higher levels of ability were demonstrated by children with imprinting defect or UPD in terms of greater comprehension of phrases and words, more spoken and gestural communication, a greater range of communicative functions and apparently better oral-motor skills. The findings of this study have implications for therapeutic intervention and prognosis for communication development in Angelman syndrome. © The Speech Pathology Association of Australia Limited.

Publication metadata

Author(s): Jolleff N, Emmerson F, Ryan M, McConachie H

Publication type: Article

Publication status: Published

Journal: Advances in Speech Language Pathology

Year: 2006

Volume: 8

Issue: 1

Pages: 28-33

ISSN (print): 1441-7049

ISSN (electronic): 1754-9515

Publisher: Informa Healthcare


DOI: 10.1080/14417040500459684


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