Mood and sociability in Cornelia de Lange syndrome

Nelson, Lisa Kim (2010). Mood and sociability in Cornelia de Lange syndrome. University of Birmingham. Ph.D.

Preview

Nelson10PhD_A1a.pdf
PDF
Download (3MB)

Abstract

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:

Thesis (Doctorates > Ph.D.)

Award Type:

Doctorates > Ph.D.

Supervisor(s):