Exploring the psychological and physiological issues associated with X-linked ichthyosis

Wren, Georgina 2024. Exploring the psychological and physiological issues associated with X-linked ichthyosis. PhD Thesis, Cardiff University. Item availability restricted.

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Abstract

This thesis investigates the psychological and physiological issues associated with congenital skin conditions, with a particular focus on X-linked ichthyosis (XLI), a rare dermatological disorder stemming from genetic variations proximal to the steroid sulfatase (STS) gene. Prior work by our research group has previously identified higher susceptibility to various physical and psychological conditions in males with XLI (and female carriers of XLI-linked genetic variants). Notably, higher incidences of mood and neurodevelopmental disorders and atrial fibrillation have been observed. Nevertheless, the extant literature offers only preliminary insights in this area, warranting further exploration into a) potential interactions among these extracutaneous manifestations, b) comparative analysis with other dermatological conditions, and c) possible comorbid factors influencing various functional domains. To address these gaps in knowledge and to provide a comprehensive understanding of the experiences of those living with XLI, this thesis adopted a mixed-methods approach through online survey methodologies spanning four distinct research studies. Outcomes detailed in Chapters 3 and 4 highlighted increased prevalence rates of mood and neurodevelopmental disorders and related traits due to skin-specific factors, alongside negative effects on memory and executive functioning. Furthermore, findings discussed in Chapter 5 reveal higher susceptibility to cardiac arrhythmias among XLI cohorts, frequently precipitated by stress and concomitantly linked with gastrointestinal complications, asthma, and anaemia. The concluding feasibility trial in Chapter 6, asserts the suitability and efficacy of smartwatch technology for early detection of cardiac arrhythmias in XLI populations. These novel findings underscore the importance of providing comprehensive long-term care strategies for individuals with XLI, encompassing various risk mitigation measures. Subsequent interventions may focus on developing effective coping strategies and stress reduction to enhance overall wellbeing, and potentially reduce both physiological and psychological burden.

Item Type:	Thesis (PhD)
Date Type:	Completion
Status:	Unpublished
Schools:	Psychology
Date of First Compliant Deposit:	3 January 2025
Last Modified:	03 Jan 2025 15:42
URI:	https://orca.cardiff.ac.uk/id/eprint/174939

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