A Qualitative Investigation of Fatigue & Its Daily Impacts as Perceived by Individuals With Barth Syndrome & Their Families

PURPOSE: Barth Syndrome (BTHS) is a rare, x-linked, genetic condition affecting the mitochondria’s ability to function correctly within cells causing fatigue. Exactly what it means to be 'Barth Tired', however, remains elusive. Our objective was to understand how individuals with BTHS and their family perceive and experience fatigue to better understand its impact on daily functioning.

DESIGN: We used a qualitative study design with a phenomenological approach. Virtual interviews were conducted via Zoom. Audio recordings of each interview were transcribed and imported into ATLAS.ti for analysis and coding. The research team used an inductive process to code the transcripts which informed the development of the themes. Reflexivity and member checking were used to enhance the rigor of the design.

METHODS: Twenty-three family members of BTHS individuals participated in phase one of the study. Twenty participants with Barth syndrome, ages 5 years to adult, participated in phase two of the study. Five key themes from phase one were extracted from the data and confirmed through member checking. Four key themes from phase two were extracted and again confirmed through member checking.

RESULTS: Themes revealed through phase one of the study (family members) were:1) fatigue severity with degree of impact on individual (social, self-care) and family (social, emotional) 2) there are physical and non-physical (emotionality, difficulty focusing in school) symptoms of fatigue 3) BTHS individuals look 'normal' so individuals/families may be misunderstood 4) extra planning/modification must be taken for families to engage in important things 5) there is a transition that occurs from parents managing their child’s fatigue, to the affected individual learning their own strategies or self-regulation. Themes revealed through phase two of the study (affected individuals) were: 1) BTHS fatigue has significant social implications; 2) BTHS fatigue manifests itself through cognitive and physical signs and symptoms; 3) BTHS fatigue is correlated with an inability to engage in activity leading to limited independence; 4) BTHS fatigue requires fatigue management and accommodations.

CONCLUSION: Findings suggest that fatigue in BTHS may need to be considered not only in terms of muscular endurance, but in a more robust fashion to capture the impact of fatigue on cognition, emotional regulation, social participation, self-care, and quality of life. Findings also suggest that a transition happens from parents managing their child’s fatigue, to the affected individual learning their own strategies for fatigue-management. These findings may be used by occupational therapists to guide selection of techniques and accommodations for optimal participation in individuals with fatigue as a core symptom.

References

Gorman, F., Elson, J., Newman, J., Payne, N., McFarland, R., Newton, J., Turnbull, D. (2015) Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease. Neuromuscul. Disord., 25(7), 563-566. https://doi.org/10.1016/j.nmd.2015.03.001

Lim, Y., Hayat, M., Tripp, N. (2019). Impact on the family of raising children with rare diseases: A propensity score approach. Am. J. Occup. Ther., 73(4). 10.5014/ajot.2019.73S1-PO4063

Ghosh, S., Iadarola, D. M., Ball, W. B., & Gohil, V. M. (2019). Mitochondrial dysfunctions in barth syndrome. IUBMB Life, 71(7), 791–801. https://doi.org/10.1002/iub.2018

Searle, A., Herbert, G., Dabner, L., Steward, C. G., Damin, M., & Pieles, G. (2021). Self-regulation in Barth syndrome: a qualitative perspective of adolescents, adults and parents in the U.K. Orphanet J. Rare Di., 16(1), 404. https://doi.org/10.1186/s13023-021-02027-5