The behavioural phenotype of Cornelia de Lange syndrome

Groves, Laura Jane (2019). The behavioural phenotype of Cornelia de Lange syndrome. University of Birmingham. Ph.D.

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Abstract

This research aimed to examine mental health problems in Cornelia de Lange syndrome and to further understand pathways from genetic disorder to behaviour. Specifically anxiety and negative affect in CdLS were examined across two studies employing different methodologies with individuals with fragile X syndrome included as a contrast group. Significant differences were found in the trajectories of negative affect such that individuals with CdLS experienced declining interest and pleasure alongside increasing age. A broad range of topographies of anxiety were reported in CdLS, including DSM-5 anxiety types and autism spectrum disorder related anxiety, such as intolerance of uncertainty. These were prevalent in individuals with CdLS, emerging at a young age and persisting across age groups. To understand mechanisms that may contribute to the emergence and maintenance of anxiety and negative affect, associations with executive functioning were examined to appraise the applicability of executive dysfunction theories to mental health problems in CdLS. Anxiety topographies and interest and pleasure were found to be associated with attention shifting and emotional control. Finally, insistence on sameness was identified as being associated with interest and pleasure and executive functioning, and may be a mediator of these interactions. Overall, this research significantly contributes to our understanding of the presentation and lifespan trajectories of anxiety and negative affect in CdLS, and mechanisms that may be implicated in the emergence and maintenance of these. A causal model of the CdLS phenotype delineating pathways from genetic disorder to behaviour in CdLS based on these findings is presented.

Type of Work:

Thesis (Doctorates > Ph.D.)

Award Type:

Doctorates > Ph.D.

Supervisor(s):