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Travlos V.1, Patman S.1, Wilson A.2, Downs J.3,4
1University of Notre Dame Australia, School of Physiotherapy, Fremantle, Australia, 2Princess Margaret Hospital, Respiratory Medicine, Perth, Australia, 3Telethon Kids Institute, Population Sciences, Perth, Australia, 4Curtin University, School of Physiotherapy, Perth, Australia
Background: With best practice care, youth with Neuromuscular Disorders (NMD) who live with severe muscle weakness can survive well into adulthood, albeit with complex, progressive, multisystem comorbidities. The prevalence and severity of their comorbidities is not known. When transitioning to adulthood, health and wellbeing can be compromised by rapidly changing psychosocial and healthcare provision factors.
Purpose: To establish a baseline description of health and wellbeing in youth with NMD who are wheelchair users, and explore correlations with biopsychosocial factors.
Methods: A cross-sectional survey design was employed, recruiting 14-21 year old youth with NMD, and their parent, from across Australia and New Zealand. Participants completed a self-report questionnaire specifically designed for this study. Standardised measures were utilised of youths´ global ratings of health, mental wellbeing (Warwick-Edinburgh Mental Wellbeing Scale - WEMBS), personal factors and social context, including parent QoL. De novo questions were developed with expert consultation to measure severity of comorbidities. Descriptive statistics were used to estimate prevalence and regression analysis to explore correlations between outcomes within a biopsychosocial framework.
Results: 47 youth from diverse social and healthcare contexts participated (mean age 17.4 years old, SD 2.41, range 13.4 - 22.0). Twenty four lived with Duchenne Muscular Dystrophy (all male) and 16 with rarer NMD´s (eight female). Seventeen (43%) used non-invasive ventilation. Acute illness occurred infrequently, with 57% (n=27) experiencing no respiratory infections in the preceding 12 months. Two-thirds (n=31) lived with one or more severe joint contractures. Nearly three quarters (n=32) had scoliosis and slighly more than half (n=25) suffered one or more fractures. 57% (n=27) experienced constipation. 68% (n=32) were at risk of renal impact due to limited fluid intake. The majority (n=42) experienced pain and 34% (n=16) reported daily pain. 36% (n=17) reported a pain intensity score of ≥ 6/10. Youth rated their median global health at 80/100 (IQR 20, range 35-100) and life satisfaction 8/10 (IQR 2, range 4 - 10). Higher global health ratings correlated significantly with lower frequency of health concerns (p 0.001), less days off usual participation due to illness (p = 0.034), greater life satisfaction (p = 0.012), higher WEMWBS scores (p = 0.003) and higher parent QoL (p = 0.017). Multiple family factors were correlated, including higher parental education with a lower frequency of health concerns (p=0.015), parental employment with less days off usual participation (p=0.002), and a lower number of siblings with higher global health (p 0.000) and WEMWBS scores (p= 0.006).
Conclusion(s): Youths´ high self-perceived health reported in this study may reflect optimal outcomes more likely in individuals who have capacity to opt-in to research. Wellbeing was comparable to typically developing peers. The severity of potentially modifyable comorbidities in NMD and the impact of social context highlights areas for improvement in healthcare education, support and engagement in youth living with rare disease.
Implications: Comprehensive self-reported outcome measurement with youth with rare disease is feasible. Standardised measurement of comorbidity severity needs to be developed. Longitudinal research is needed exploring how outcomes are impacted through the period of transition to adulthood.
Funding acknowledgements: Muscular Dystrophy Western Australia Harold & Sylvia Rowell PhD Scholarship. Collaborative Research Network top-up Scholarship University of Notre Dame Australia.
Topic: Paediatrics
Ethics approval: University of Notre Dame Human Research Ethics Committee (R0144121F).
All authors, affiliations and abstracts have been published as submitted.
