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“What is Barth Tired?”: A mixed methods approach to qualifying and quantifying fatigue in males with Barth syndrome

Stacey Reynolds, PhD, Assistant Professor, Virginia Commonwealth University, Richmond, VA

Fatigue is a core clinical symptom of Barth syndrome (BTHS) that has been described informally as limiting many aspects of daily life functioning. Exactly what “Barth Tired” really means, however, remains elusive, as does the impact of fatigue on those close to the affected individual. Similarly, fatigue in BTHS has proved difficult to quantify; to date, fatigue in BTHS has only been measured in terms of physiological fatigue while research into other mitochondrial disorders has identified many types of fatigue that can impact overall functioning and quality of life (i.e., perceived fatigue, mental exhaustion, tiredness, and low energy).

The objective of the proposed project is to conduct a mixed-methods study which will help us to both qualify and quantify fatigue in the BTHS population. To achieve this objective, we have developed two specific aims: 1) to understand how individuals with BTHS and their families perceive the impact of fatigue on daily life functioning, and 2) to develop a model for predicting fatigue levels based on energy expenditure data. Aim 1 will be achieved using a qualitative research design with a phenomenological approach. Aim 2 will be achieved by first developing a novel phone application to record participant-reported fatigue levels in “real-time” that can be synched with other biometric data collection devices (Aim 2a). Then we will conduct a pilot study to characterize the relationship between participant-reported fatigue levels and energy expenditure, as well as examine the fatigue variables that best predict poor sleep in this population (Aim 2b).

We will quantify energy expenditure using a wearable activity tracker that has already been shown to be feasible for use in the BTHS population (Actigraph GT9X watch). At the completion of this study we expect to 1) have a greater understanding of the meaning and impact of fatigue on the daily life skills and quality of life for persons with BTHS and their families, 2a) have a functional application that can be used by our team and by other’s studying fatigue in individual’s with BTHS, and 2b) have objective data characterizing how perceived fatigue aligns with energy expenditure in persons with BTHS. We expect this information will be used to determine the best outcomes measures in BTHS clinical trials and to collaborate in the development of future clinical trials research with other BTHS researchers. Our team of occupational therapy researchers with backgrounds in neurophysiology, engineering, and computational modeling are well suited to conduct this project and have preliminary data supporting feasibility of methods proposed.

This project’s funding was made possible by the generous support of the Will McCurdy Fund for Advancement in Therapies for Barth Syndrome.

Virginia W. Chu, PhD, OTR/L

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