Sleep disorders among Aboriginal Australians with Machado-Joseph Disease: Quantitative results from a multiple methods study to assess the experience of people living with the disease and their caregivers

Desireé LaGrappe; Libby Massey; Anuk Kruavit; Timothy Howarth; Gayangwa Lalara; Bronwyn Daniels; Julie Gungunbuy Wunungmurra; Kimberley Flavell; Ruth Barker; Howard Flavell; Subash S Heraganahally

doi:10.1016/j.nbscr.2022.100075

Sleep disorders among Aboriginal Australians with Machado-Joseph Disease: Quantitative results from a multiple methods study to assess the experience of people living with the disease and their caregivers

Neurobiol Sleep Circadian Rhythms. 2022 Apr 22:12:100075. doi: 10.1016/j.nbscr.2022.100075. eCollection 2022 May.

Authors

Desireé LaGrappe^{1

2}, Libby Massey^{3

4}, Anuk Kruavit^{5

6}, Timothy Howarth^{7

8}, Gayangwa Lalara³, Bronwyn Daniels³, Julie Gungunbuy Wunungmurra³, Kimberley Flavell⁹, Ruth Barker¹⁰, Howard Flavell¹¹, Subash S Heraganahally^{6

8

9}

Affiliations

¹ Centre for Disease Control, Public Health Unit, Northern Territory Government Department of Health, O'Keefe House, Katherine Hospital, George Rd, Katherine, Northern Territory, 0850, Australia.
² Judith Lumley Centre, School of Nursing and Midwifery, La Trobe University, Level 3, George Sinclair Building, Bundoora, Victoria, 3086, Australia.
³ MJD Foundation, PO Box 414, Alyangula, Northern Territory, 0885, Australia.
⁴ College of Public Health, Medical and Veterinary Sciences, Division of Tropical Health and Medicine, James Cook University, Bebegu Yumba, Douglas Campus, 1 James Cook Drive, QLD, 4814, Australia.
⁵ Adelaide Respiratory, Level 5, Calvary Adelaide Hospital, Adelaide, South Australia, 5000, Australia.
⁶ Department of Respiratory and Sleep Medicine, Royal Darwin Hospital, 105 Rocklands Drive, Tiwi, Northern Territory, 0810, Australia.
⁷ College of Health and Human Sciences, Charles Darwin University, Ellengowan Drive, Casuarina, Northern Territory, 0810, Australia.
⁸ Darwin Respiratory and Sleep Health, Darwin Private Hospital, Tiwi, Darwin, Northern Territory, Australia.
⁹ College of Medicine and Public Health, Flinders University, Sturt Rd, Bedford Park, Adelaide, South Australia, Australia.
¹⁰ College of Healthcare Sciences, James Cook University, Box 6811, Cairns, 4870, Townsville, QLD, Australia.
¹¹ Department of Rehabilitation Medicine, Palmerston Regional Hospital, Linco Rd, Holtze, Northern Territory, 0829, Australia.

Abstract

Background: Machado-Joseph Disease (MJD), or Spinocerebellar Ataxia Type 3 (SCA3), is a genetic disorder that causes progressive muscle weakness, loss of motor control, ataxia and permanent physical disability. Sleep disturbances are associated with MJD but remain poorly understood.

Objective: To investigate frequency and characteristics of sleep disorders and their association with health-related quality of life and psychosocial wellbeing for Aboriginal Australians living with MJD.

Methods: A convenience sample of MJD participants n = 24 participated in a semi-attended, ambulatory diagnostic sleep study to capture polysomnography, actigraphy and sleep diary data. Self-report measures collected were the Pittsburgh Sleep Quality Index (PSQI), STOP-BANG Questionnaire for Obstructive Sleep Apnoea (OSA), International Restless Legs Syndrome Study Group rating scale (IRLS), Kessler-5 (K5) and EuroQoL-5 Dimension (EQ5D). Caregivers (n = 22) reported EQ-5D, K5 and bed partners' sleep behaviour (Mayo Sleep Questionnaire-Informant). Environmental factors were measured.

Results: We observed Nocturia, Sleep Related Leg Cramps, OSA, REM Behaviour Disorder, and RLS, respectively in 100%, 71%, 47%, 43%, and 33% of participants with a significant positive correlation between Body mass index (BMI) and Apnoea hypopnea index (AHI). The majority of sleep was spent in non-rapid eye movement sleep (NREM)-N2 stage (77.8% (67.7, 81.6)). Overcrowding (92%) and overnight care needs (42%) interrupted sleep. MJD participants and caregivers reported high psychological distress (K5 median 12.5 IQR 7, 16.5 & 8 IQR 6, 12 respectively).

Conclusion: Poor sleep quality and sleep disturbances are prevalent among this cohort. Disease manifestations and environmental factors are driving factors. Larger sample sizes are required to predict risk factors and confirm observed associations.

Keywords: Machado-Joseph disease”; “Aboriginal”; “Ataxia”; “Indigenous”; “Sleep”; “Spinocerebellar Ataxia type 3”.