Use of technological platforms and big data to enhance phenotypic understanding in adult-onset primary dystonia

Bailey, Grace 2022. Use of technological platforms and big data to enhance phenotypic understanding in adult-onset primary dystonia. PhD Thesis, Cardiff University. Item availability restricted.

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Abstract

In this thesis, I make use of technological platforms in order to evaluate epidemiological characteristics and further our understanding of the non-motor symptoms in dystonia. I have determined the prevalence and incidence of dystonia over a 24-year period, and examined social deprivation status and mortality. Further, I explore the psychiatric symptoms and sleep patterns in detail. I have developed a validated algorithm to identify individuals with dystonia using anonymised healthcare records. The optimised algorithm had a sensitivity of 79% and was employed to form the dystonia cohort within the Secure Anonymised Information Linkage (SAIL) databank. The validated algorithm identified a total of 54,966 individuals with dystonia, suggesting an overall prevalence of 1220/100,000/year (1.2%) amongst the Welsh population. Interestingly, a diagnosis of dystonia did not impact social deprivation, with no change in social deprivation status before or following diagnosis. Comparable causes of death were noted amongst dystonia and the general population, with respiratory disorders, circulatory disorders and cancer leading causes of death. Psychiatric diagnoses and prescriptions were increased amongst those with idiopathic dystonia compared to a matched control cohort, depression and anxiety being most common. Psychiatric diagnoses predominantly pre-dated dystonia diagnosis, particularly in the 12-months leading up to diagnosis, however there was an elevated rate of most diagnoses throughout the study period. These findings suggest a bidirectional relationship between psychiatric disorders and dystonia potentially owing to common aetiological mechanisms. Wrist-worn accelerometer data available as part of the UK Biobank demonstrated later bedtimes, less time in bed and suboptimal sleep duration in those with dystonia compared to matched controls. To address the lack of concurrent self-reported sleep, our own dystonia cohort was recruited. Detailed examination of sleep architecture showed increased non-rapid eye movement sleep and increased total sleep time compared to controls, although self-reported sleep and objective-derived sleep measures were not associated.

Item Type:	Thesis (PhD)
Date Type:	Completion
Status:	Unpublished
Schools:	Medicine
Date of First Compliant Deposit:	6 October 2022
Last Modified:	06 Jan 2024 02:32
URI:	https://orca.cardiff.ac.uk/id/eprint/153054

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