TY - JOUR
T1 - Sleep disorders among Aboriginal Australians with Machado-Joseph Disease
T2 - Quantitative results from a multiple methods study to assess the experience of people living with the disease and their caregivers
AU - LaGrappe, Desireé
AU - Massey, Libby
AU - Kruavit, Anuk
AU - Howarth, Timothy
AU - Lalara, Gayangwa
AU - Daniels, Bronwyn
AU - Wunungmurra, Julie Gungunbuy
AU - Flavell, Kimberley
AU - Barker, Ruth
AU - Flavell, Howard
AU - Heraganahally, Subash S.
N1 - Funding Information:
This work was supported by the MJD Foundation, Alyangula, NT, Australia and in-kind support from Darwin Respiratory and Sleep health, Darwin Private Hospital, Darwin, NT, Australia.
Publisher Copyright:
© 2022
PY - 2022/5
Y1 - 2022/5
N2 - 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.
AB - 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.
KW - Machado-Joseph disease
KW - Aboriginal
KW - ataxia
KW - Indigenous
KW - Sleep
KW - Spinocerebellar Ataxia type 3
UR - http://www.scopus.com/inward/record.url?scp=85129203235&partnerID=8YFLogxK
U2 - 10.1016/j.nbscr.2022.100075
DO - 10.1016/j.nbscr.2022.100075
M3 - Article
AN - SCOPUS:85129203235
SN - 2451-9944
VL - 12
SP - 1
EP - 10
JO - Neurobiology of Sleep and Circadian Rhythms
JF - Neurobiology of Sleep and Circadian Rhythms
M1 - 100075
ER -