Clinical Research on the Lives of Individuals Diagnosed with Rare Genetic Syndromes

This thesis was completed as part of the Professional Doctorate in Clinical Psychology at Staffordshire University.
Chapter one is a literature review that systematically evaluates fourteen empirical research studies that report on the behavioural, cognitive, emotional and social characteristics observed in individuals diagnosed with Rubinstein-Taybi syndrome (RTS). The results suggested that repetitive behaviour and challenging behaviour are likely to be specific features of RTS. High levels of sociability were also identified; however, the findings also reported a high prevalence of autism characteristics which seemingly contradicts the findings of heightened sociability. Similarly, several studies highlighted a heightened prevalence of anxiety, specifically obsessive compulsive disorder (OCD) in people with RTS; however, given the high levels of repetitive behaviour, it is possible that repetitive behaviours are being misattributed as OCD. These findings, along with their clinical implications, limitations and directions for future research are discussed further in chapter one.
Chapter two is an empirical study investigating the prevalence and predictors of anxiety and depression in adults diagnosed with Bardet-Biedl syndrome (BBS). This study was a cross-sectional self-report questionnaire study, where eighteen individuals with BBS took part. Correlational analyses showed that the number of physical health problems, intolerance to uncertainty, autism characteristics and executive dysfunction were positively correlated with anxiety and depression. A multiple regression analysis was conducted on the data, which revealed that the number of health problems and executive dysfunction predicted higher levels of both anxiety and depression in adults with this syndrome. Degree of visual impairment was also a predictor of depression. The results, clinical implications, limitations and future research are discussed further in chapter two.
Chapter three is an executive summary of the empirical research presented in chapter two. This has been written in an accessible format intended for dissemination to adults with BBS, their family members/carers and the general population.