P059 Sleep quality and fatigue in children with Charcot–Marie–tooth disease (CMT)
Abstract
Charcot–Marie Tooth disease (CMT) describes a group of heterogeneous inherited peripheral neuropathies, affecting approximately 1 in 2500 children. While its primary motor and sensory symptoms are well understood, secondary symptoms including fatigue and sleep disorders are only beginning to emerge as significant comorbidities in the adult literature and remain under-investigated in children. This study aims to bridge that gap by investigating sleep quality and fatigue in Australian children with CMT.
We aim to recruit 30 children (= < 18 years) with CMT attending the neuromuscular clinic at the Royal Children’s Hospital, Melbourne. Depending on age, participants and their parent/guardian will complete up to 8 validated questionnaires assessing sleep, fatigue, physical activity, mood, pain and quality of life. Each child will also undergo an at-home overnight polysomnography (PSG) to assess for sleep disorders. Data will be analysed to examine the relationship between sleep, fatigue and other relevant factors.
Recruitment commenced in April 2025 (currently n = 6; mean age 15.5 years). Preliminary data show 100% of participants reported elevated levels of fatigue (mean PedsQL-MFS total score of 33.78/100). The mean score on the SDSC was 59.7 consistent with significant sleep disturbance. Three PSG’s have been completed.
Although recruitment ongoing, we anticipate that fatigue and sleep disorders will be prevalent and multifactorial, as seen in adult cohorts. In the absence of…
Read the paper
Related studies
- Tryptophan Metabolism and Gut-Brain Homeostasis
- Rationale for a Multi-Factorial Approach for the Reversal of Cognitive Decline in Alzheimer’s Disease and MCI: A Review
- Prioritized Research for the Prevention, Treatment, and Reversal of Chronic Disease: Recommendations From the Lifestyle Medicine Research Summit
- Relationship between sleep disorders and gut dysbiosis: what affects what?
- The role of CLOCK gene in psychiatric disorders: Evidence from human and animal research
- Genetic, Transcriptome, Proteomic, and Epidemiological Evidence for Blood-Brain Barrier Disruption and Polymicrobial Brain Invasion as Determinant Factors in Alzheimer’s Disease
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.