Validation of the Russian version of the PedsQL^TM 3.0 Neuromuscular Module for children with neuromuscular disorders

Background. Spinal muscular atrophy (SMA) and other neuromuscular diseases are severe inherited pathologies characterized by progressive muscle weakness and high disability rates. In Russia, SMA prevalence is approximately 1500 patients, with most cases manifesting in childhood. Modern drugs such as nusinersen, risdiplam, and onasemnogene abeparvovec can slow disease progression; however, their effectiveness requires comprehensive evaluation, including psychosocial aspects of patients' lives. Health-related quality of life (HRQOL) is a key indicator for assessing therapeutic effects, especially in pediatric practice, where not only physical limitations but also the impact of illness on emotional state, social activity, and family well-being are important.

Aim. To conduct cultural-linguistic adaptation and validation of the Russian version of the PedsQL™ 3.0 Neuromuscular Module for objective assessment of HRQOL in children with SMA and their parents, including translation and adaptation of the questionnaire according to international standards, evaluation of its psychometric properties (reliability, validity, sensitivity to changes), and comparison of results with the original English version.

Materials and methods. The study included 25 patients with verified SMA diagnosis (types I–III) aged 2–18 years and their parents. Adaptation was conducted in several stages: forward and backward translation, expert evaluation, cognitive interviewing, and final formulation adjustment. Psychometric properties were evaluated before and after nusinersen therapy using Cronbach's alpha coefficient, ICC, and factor analysis.

Results. High reliability of the Russian version was identified: Cronbach's alpha coefficients were 0.92–0.96 for the child version and 0.93–0.95 for the parent version. Test reproducibility was confirmed by high ICC (0.85–0.92). Factor analysis confirmed the three-factor structure of the questionnaire corresponding to the original, explaining 43.2, 12.1 and 8.7% of variance respectively. Significant improvement in quality of life was noted after nusinersen therapy, particularly in physical well-being of SMA type I patients (+15.4%). Social indicators in adolescents aged 13–18 remained lower than in younger children, related to age-related psychosocial difficulties.

Conclusion. The Russian version of PedsQL™ 3.0 Neuromuscular Module successfully passed validation and demonstrates high psychometric characteristics comparable to the original. The instrument is sensitive to clinical changes and can be used for monitoring quality of life in children with SMA in Russian practice. Study results allow recommending the questionnaire for therapy effectiveness assessment, identification of problem areas, and planning supportive measures. Future work prospects include validation on larger samples and adaptation of the methodology for adult patients.