Development and Cross-Cultural Validation of a Quality-of-Life and Needs Questionnaire for Adult Charcot-Marie-Tooth Patients.

Background and aims

Existing patient-reported outcome measures (PROMs) for Charcot-Marie-Tooth disease (CMT) either lack disease specificity or do not assess patients' healthcare needs. We developed the Charcot-Marie-Tooth Quality of Life and Needs questionnaire (CMT-QoLN), a brief disease-specific PROM designed to evaluate both quality of life and unmet healthcare needs in adults with CMT.

Methods

The CMT-QoLN comprises four domains: disease symptoms and impact (19 items), work-related impact (7 items), family and social life (7 items), and disease-related needs (7 items), with 38 of the items scored on 5-point Likert scales. It was administered alongside the EQ-5D-5L and SF-36 to CMT patients in Romania and France. Internal consistency, known-groups validity, correlations with clinical variables, and group-level convergence with generic instruments were evaluated.

Results

Internal consistency was good to excellent for most domains (Cronbach's α 0.81-0.95), except for the healthcare-needs domain in the French cohort (α = 0.68). The CMT-QoLN discriminated effectively between patients with different levels of disability, showing large effect sizes for assistance with activities of daily living and walking impairment. Healthcare-needs scores differed significantly between Romania and France, suggesting sensitivity to differences in healthcare organization. Patterns of impairment were consistent with those obtained using the EQ-5D-5L and SF-36.

Interpretation

The CMT-QoLN is a feasible disease-specific PROM that captures both functional burden and unmet healthcare needs in adults with CMT. By integrating dimensions not addressed by existing instruments, it may complement generic quality-of-life measures in routine clinical practice and multinational observational studies. Further validation in larger cohorts is warranted.

Keywords

CMT, cross‐cultural validation, patient‐reported outcome, quality of life