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Mood and sociability in Cornelia de Lange syndrome

Nelson, Lisa Kim (2010)
Ph.D. thesis, University of Birmingham.

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Background: Recent literature on the behavioural phenotype of Cornelia de Lange syndrome suggests that the trajectory of a number of behaviours may be atypical in the syndrome, including mood and sociability however there is a lack of quantitative research to support these findings. Methods: Three empirical studies were conducted. The first study employed a questionnaire design to follow up mood, interest and pleasure over a two-year period in individuals with Cornelia de Lange syndrome. The second study involved the development of an informant-based questionnaire to examine the trajectory of sociability in Cornelia de Lange syndrome. The third study employed an experimental design to examine indicators of social anxiety in adolescents and adults with Cornelia de Lange syndrome. Results: Low mood and reduced initiation of social interactions with unfamiliar people is characteristic of older adolescents and adults with Cornelia de Lange syndrome. Reduced verbalisation is also evident in this group when demands involving the initiation of speech are placed upon these individuals and this is related to impairments in both planning and working memory. A high rate of selective mutism is also characteristic of Cornelia de Lange syndrome. Conclusion: The trajectory of both mood and sociability appears atypical in Cornelia de Lange syndrome. Cognitive impairments may underpin these behavioural differences in adolescents and adults with the syndrome. A hypothetical model of the pathway from genes to behaviour via cognition is proposed for older adolescents and adults with the syndrome.

Type of Work:Ph.D. thesis.
Supervisor(s):Oliver, Christopher
School/Faculty:Colleges (2008 onwards) > College of Life & Environmental Sciences
Department:School of Psychology
Subjects:BF Psychology
Institution:University of Birmingham
ID Code:1037
This unpublished thesis/dissertation is copyright of the author and/or third parties. The intellectual property rights of the author or third parties in respect of this work are as defined by The Copyright Designs and Patents Act 1988 or as modified by any successor legislation. Any use made of information contained in this thesis/dissertation must be in accordance with that legislation and must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the permission of the copyright holder.
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