Validation and Reliability of the Thai Pediatric Charcot-Marie-Tooth Quality of Life Outcome Measure

Charcot-Marie-Tooth disease (CMT) is a hereditary neuropathy that causes progressive muscle weakness, sensory deficits, and impaired mobility, significantly affecting quality of life (QoL). The Pediatric Charcot-Marie-Tooth Quality of Life (pCMT-QoL) instrument was developed specifically for children with CMT. However, a validated Thai version is not yet available.

We conducted a cross-sectional study at the Pediatric Neuromuscular Clinic from July 2023 to December 2024. Using a forward-backward translation method, we adapted the pCMT-QoL into Thai. Twenty-three children with CMT and their caregivers completed the Thai questionnaire. We evaluated internal consistency using Cronbach's alpha and test-retest reliability using intraclass correlation coefficients (ICCs). Convergent validity was examined via Pearson correlation between child self-reports and parent-proxy reports across functional, mental, and physical domains.

The Thai pCMT-QoL demonstrated high test-retest reliability (ICC > 0.85) and satisfactory internal consistency (Cronbach's alpha > 0.7) across most domains. Convergent validity was strong for the total and mental domains but weaker for the physical domain, reflecting differences in perception between children and parents. Parents generally reported higher QoL scores than children did, a finding consistent with studies in other neuromuscular diseases. Most participants completed the questionnaire within 15 min, suggesting good feasibility.

The Thai pCMT-QoL is a reliable, culturally adapted tool for assessing QoL in children with CMT. It is suitable for both remote and in-clinic administration. Future studies with larger cohorts are needed to confirm its responsiveness to clinical changes and to broaden its application in diverse settings.