Characterizing the Fatigue Experience Among Children With Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease (CMT) comprises a heterogeneous group of inherited peripheral neuropathies with onset often in childhood. Activity-limiting fatigue is a common symptom of many neuromuscular disorders. The aim of this study was to explore the experience of activity-limiting fatigue among children with CMT and evaluate the utility of the generic Pediatric Quality of Life Multidimensional Fatigue Scale (PedsQL-MFS). Fifteen individuals aged 8-18 years with CMT and 12 parents participated in this study. Participants completed the PedsQL-MFS, and focus group interviews were conducted to gather feedback about the PedsQL-MFS and gain in-depth insights about their experiences of activity-limiting fatigue and impact on quality of life. Children with CMT and their parent-proxy reported significantly lower PedsQL-MFS fatigue scores (indicating greater fatigue) in comparison to normative values (P < .01), which, however, was deemed limited in scope to measure the full experience of fatigue in CMT. During in-depth interviews, 8 domains emerged as important considerations for assessing fatigue in CMT, including impact of fatigue on motor function, impact of fatigue on endurance and performance, recovery from physical activities, location of fatigue, muscle fatigue, timing of fatigue, impact of fatigue on behavior, and relationship to nutrition and hydration. These 8 domains may inform development of a disease-specific patient- and parent-reported outcome measure of fatigue.