Communication in Angelman syndrome

Pearson, Effie ORCID: 0000-0002-4328-1653 (2019). Communication in Angelman syndrome. University of Birmingham. Ph.D.

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Abstract

The absence of speech in Angelman syndrome is striking and widely recognised by those familiar with the syndrome but the specificity of communicative impairment is not well documented. This research delineated the expressive communication profile in Angelman syndrome, through comparisons to typical development and examining variability across the genetic aetiologies of Angelman syndrome, which were areas identified as requiring further research through a scoping review. In the second study, an informant-based report on speech and gestures showed that in individuals with Angelman syndrome, speech production was significantly impaired whereas gesture presence and use was comparable to that seen in typically developing children matched for comprehension. In an observational study, fine-grained analysis of gesture and prelinguistic communication in Angelman syndrome showed that these aspects emerged in a reliable and consistent pattern across individuals, which aligned with the emergence in typical development. However, this was not the case for speech. In all studies, differences across deletion and non-deletion aetiologies were found for gesture and prelinguistic communication, with individuals with a non-deletion aetiology having greater expressive communication abilities but both groups showing significantly impaired speech. Together, these findings identify an isolated speech production impairment in Angelman syndrome, which is dissociated from gestures and prelinguistic communication abilities and cannot be accounted for by level of disability. This research contributes to the understanding of the communication profile of Angelman syndrome and the role of the UBE3A gene in speech production.

Type of Work:

Thesis (Doctorates > Ph.D.)

Award Type:

Doctorates > Ph.D.

Supervisor(s):