Health-Related Quality of Life in Genetic White Matter Diseases in Children: Development of a Clinician-Facing Survey Tool to Identify Relevant Assessment Dimensions

Genetic white matter diseases can affect movement, cognition, communication, emotion, participation, and family life. We developed a clinician-facing questionnaire to identify and prioritize candidate domains of health-related quality of life (HRQoL) for affected children. Six clinicians and researchers completed 4 rounds of iterative expert review. Feedback on relevance, clarity, coverage, response options, and usability was grouped and used to retain, revise, add, merge, or remove questions. The final questionnaire included a core set of candidate HRQoL domain questions together with exploratory questions on current practice, gaps, implementation, digital health, sensor-derived information, and survey usability. This article describes the development of the questionnaire up to the final EUSurvey version. The later clinician administration and analysis are not included in this study. The questionnaire does not assess an individual child, produce an HRQoL score, or constitute a validated patient-, caregiver-, or clinician-reported HRQoL instrument.