Profile of autism spectrum disorder phenomenology in Cornelia de Lange Syndrome

Cochran, Lisa Janette (2018). Profile of autism spectrum disorder phenomenology in Cornelia de Lange Syndrome. University of Birmingham. Ph.D.

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Abstract

Background: There is a trend in recent research toward more detailed examination of autism spectrum disorder (ASD) and ASD-like characteristics in genetic syndromes. The most recent research findings support the conclusion that it is not only worthwhile but is essential to study ASD in genetic syndromes in order to aid early identification and promote access to appropriate services. Cornelia de Lange syndrome (CdLS) has been shown to have a heightened level of ASD phenomenology even when degree of intellectual disability (ID) is taken into account, although the specific manifestation of characteristics appears to be somewhat atypical. There is a lack of longitudinal research examining ASD phenomenology in CdLS.

Method: Three longitudinal studies were conducted to evaluate ASD phenomenology changes with age and over time in individuals with CdLS using appropriate contrast groups and psychometrically robust measures. The data was examined at both the broad (domain and total score level) and fine-grained (item score) levels.

Results: Older individuals with CdLS evidenced a higher prevalence of ASD characteristics and more impaired social interactions relative to younger participants with the same syndrome. Fine-grained analysis revealed that individuals with CdLS showed greater impairment in social and communication domains both with age and over time. The profile of ASD phenomenology in CdLS with age and over time differs from Fragile X and Cri du Chat in subtle but important ways.

Conclusions: It has become clear that different genetic syndromes may have different trajectories and profiles of ASD phenomenology. It is important to examine and define these specific trajectories and profiles in each syndrome. The research in this thesis has uncovered several novel findings which add to the knowledge and understanding of the behavioural phenotype of CdLS as well as the other syndrome groups employed (FXS and CdCS). There is a need for future research to examine other social factors (e.g., social anxiety) alongside the observed changes with age in CdLS.

Type of Work:

Thesis (Doctorates > Ph.D.)

Award Type:

Doctorates > Ph.D.

Supervisor(s):