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What is the prevalence of sleep disturbances among Huntington disease genetic expansion carriers?

thesis
posted on 2025-07-17, 05:56 authored by Natasha Juanita Sneddon
<p dir="ltr">Background: Sleep disturbances are common, and impair quality of life, among Huntington disease genetic expansion carriers (HDGECs). </p><p dir="ltr">Methods: This thesis used various methods to summarise prevalence of sleep and circadian disturbances amongst HDGECs. We conducted a systematic review of the literature reporting the prevalence of sleep and circadian disturbances in HDGECs. Where four or more studies used the same measure of sleep or circadian outcomes, we metaanalysed data using a Random Effects Model (Metafor Package (version 4.6-0) in R (version 4.4.0)). The thesis concludes with recommendations for consideration within future studies of sleep and circadian disturbances within HDGECs. </p><p dir="ltr">Results: The 25 papers included in our systematic review revealed sleep and circadian disturbances are prevalent among HDGECs. There was a large variation in prevalence due to heterogeneity of measures used and HD disease staging, as well as a limited number of participants within studies. Our meta-analysis found prevalence (mean %) for abnormal sleep quality (61%), periodic limb movements (35%), sleep medication (29%), excessive daytime sleepiness (15%), abnormal apnoea-hypopnoea index (9.97%), rapid eye movement sleep without atonia (5%), and rapid eye movement sleep behaviour disorder (3%). </p><p dir="ltr">Conclusion: Sleep disturbances are prevalent among HDGECs. Prevalence varied across populations studied and measures used. Future studies should consider measures that will be appropriate for testing pertinent outcomes among HDGECs, use of the Huntington disease integrated staging system [2], focusing on pre-manifest participants, considering covariates, and conducting randomised controlled trials.</p>

History

Table of Contents

1. Introduction -- 2. What is the prevalence of sleep disturbances in Huntington disease expansion carriers? A systematic review and meta-analysis -- 3. Recommendations for Future Research -- 4. Conclusion -- A. Systematic Literature Review: Database-specific search terms -- B. Systematic Literature Review: PRISMA 2020 Main Checklist -- References

Notes

Thesis by publication

Awarding Institution

Macquarie University

Degree Type

Thesis MRes

Degree

Master of Research

Department, Centre or School

Macquarie Medical School

Year of Award

2025

Principal Supervisor

Clement Loy

Additional Supervisor 1

Angela D'Rozario

Rights

Copyright: The Author Copyright disclaimer: https://www.mq.edu.au/copyright-disclaimer

Language

English

Extent

157 pages

Former Identifiers

AMIS ID: 474877

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