Refining the behavioural phenotype of Angelman syndrome

Heald, Mary Elizabeth (2014). Refining the behavioural phenotype of Angelman syndrome. University of Birmingham. Ph.D.

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Angelman syndrome is associated with distinctive behavioural characteristics including frequent laughing and smiling, heightened motivation for adult attention, sensory seeking, aggression and impaired learning. The main aim of this thesis was to refine and extend description of the behavioural characteristics of Angelman syndrome, including sensory processing and sociability, in order to establish the principles of intervention to increase the speed of acquisition and lower levels of ‘challenging behaviours’, with a focus on excessive social approach. A longitudinal study highlighted limited change in behaviours characteristic of Angelman syndrome over an eight year period, both in children and adults. Further examination of specific behavioural characteristics refined the behavioural phenotype of Angelman syndrome, highlighting elevated levels of seeking sensory stimuli, and differences in social behaviour across genetic subtypes of Angelman syndrome. Direct observations demonstrated the successful use of these preferred sensory and social experiences as rewards that increased the rate of acquisition of target behaviours. Direct observations identified a subset of children for whom social interaction was extremely rewarding. A proof of principle intervention for children displaying heightened sociability successfully reduced the frequency of ‘excessive’ social approaches in the presence of a discriminative stimulus. The results from the thesis refine the knowledge of the behavioural phenotype of Angelman syndrome, and have important implications for future behavioural interventions within this population.

Type of Work: Thesis (Doctorates > Ph.D.)
Award Type: Doctorates > Ph.D.
College/Faculty: Colleges (2008 onwards) > College of Life & Environmental Sciences
School or Department: School of Psychology
Funders: None/not applicable
Subjects: B Philosophy. Psychology. Religion > BF Psychology


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