Abstract
This study used a phone app to capture fatigue and an activity tracker to assess energy expenditure in individuals with and without Barth syndrome (BTHS). We found that the BTHS group reported fatigue after expending less energy compared to controls.
Primary Author and Speaker: Marina Nguyen
Additional Authors and Speakers: Alyssa Tsui, Virginia W. Chu, Stacey Reynolds
Contributing Authors: Sanamtha Payne, Hannah Ikenberry, Mackenzie Hunter
Barth syndrome (BTHS) is a rare genetic disorder that causes skeletal myopathy, cardiomyopathy, and exercise intolerance leading to difficulties with activities of daily living and overall functioning [1]. Individuals with BTHS frequently experience extreme fatigue in their everyday lives [2]. The purpose of the study was to examine energy expenditures prior to a fatigue response in those with and without BTHS [3]. 18 participants with BTHS (aged 5-56 years) and 19 age-matched control participants were recruited via convenience sampling for this cross-sectional study. The participants were asked to wear an activity tracker (ActiGraph GT9X Link) for 14 days and to respond to a phone app to report their fatigue levels 6x per day [4]. Statistical analyses were completed in SPSS to examine the amount of energy expended 120 minutes prior to a fatigue response on the phone app. The findings, when controlled for age, indicated that BTHS participants expend significantly less energy prior to a fatigue response compared to control participants (F(1,567) = 4.766, p = 0.029). This result confirmed that individuals with BTHS fatigue more easily after less activities compared to control participants. Our results also highlight that examining energy expenditure alone does not give a complete picture of fatigue in individuals with BTHS. Overall, BTHS participants felt more fatigued after exerting less energy compared to control participants. This highlights the importance of measuring fatigue as a subjective construct and has implications for future methods of quantifying fatigue for those with mitochondrial disorders. As a possible target for future therapeutic trials, findings could improve occupational therapy interventions and approaches with BTHS individuals to maximize energy conservation and coping techniques.
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