The Impact of Raising Children with Barth Syndrome on Parental Health-Related Quality of Life and Family Functioning: Preliminary Reliability and Validity of the PedsQL™ Family Impact Module

Authors: Virginia W. T. Chu, Samantha J. Payne, Mackenzie P. Hunter & Stacey Reynolds

Journal: Journal of Rare Diseases (Link to article)

Individuals with Barth syndrome often experience heightened levels of perceived fatigue, which includes mental, emotional, and sleep-related aspects, alongside psychological and social wellbeing concerns like anxiety and depression. However, scant research has explored fatigue within the Barth syndrome population. Most studies have primarily focused on physiological fatigue markers like exercise tolerance.

“What is Barth Tired?”: A mixed methods approach to qualifying and quantifying fatigue in males with Barth syndrome,” is an Idea Award that was granted to Drs. Stacey Reynolds and Virginia Chu of Virginia Commonwealth University in 2021. As part of this project, the investigators conducted a study using a smartphone application (i.e. app) to gauge patient-reported fatigue experiences in individuals with Barth syndrome.

Findings: The research team recruited 18 individuals with Barth syndrome aged 5-59 years old and unaffected individuals that were comparable in age (also known as age-matched control participants). All participants were instructed to wear an activity tracking device called the ActiGraph GT9X Link, which tracked sleep and energy expenditure (estimates the amount of energy burned by the human body) similar to a smart watch and use a mobile app to record their feelings of fatigue for 14 days. Participants responded to the app's prompts six times daily, rating their fatigue levels.

After examining differences between the Barth syndrome affected individuals and the unaffected control group, the researchers found that there were more instances where participants halted all activity due to overwhelming fatigue (also called “crashes”) among the Barth syndrome group. Across both groups, perceived energy levels from the app correlated significantly with actual energy expenditure, meaning that the higher the perceived energy level, the higher the energy expenditure. This finding meant that app had good “content validity,” or accurately captured what it was designed to measure. In the Barth syndrome group, participants had lower energy expenditure than the unaffected control group, suggesting heightened susceptibility to fatigue with less activity.

Take-Home Message: The research team demonstrated that their mobile app was successful in measuring fatigue in individuals with Barth syndrome. Interestingly, "crashes" emerged as a key distinction between affected individuals and unaffected controls, and the Barth syndrome group had lower energy expenditure, underscoring the importance of using subjective (e.g. patient-reported) measures of fatigue alongside physiological markers. Drs. Reynolds and Chu’s study lays the groundwork for quantifying fatigue in Barth syndrome and identifies potential targets for future therapeutic interventions.