Development and Validation of the Pediatric Charcot–Marie–Tooth Disease Quality of Life Outcome Measure

• Published in: Annals of neurology Vol. 89; no. 2; pp. 369 - 379
• Main Authors: Ramchandren, Sindhu, Wu, Tong Tong, Finkel, Richard S., Siskind, Carly E., Feely, Shawna M. E., Burns, Joshua, Reilly, Mary M., Estilow, Timothy, Shy, Michael E.
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.02.2021; Wiley Subscription Services, Inc
• Subjects: Activities of Daily Living; Adolescent; Assessments; Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Disease - physiopathology; Charcot-Marie-Tooth Disease - psychology; Child; Child, Preschool; Children; Clinical trials; Cognition; Consortia; Domains; Emotions; Factor analysis; Factor Analysis, Statistical; Female; Humans; Literature reviews; Longitudinal Studies; Male; Neuropathy; Outcome Assessment, Health Care; Patient Reported Outcome Measures; Patients; Pediatrics; Physicians; Psychometrics; Quality of Life; Quantitative psychology; Reliability analysis; Reliability aspects; Reproducibility of Results; Social Participation; Social Skills
• ISSN: 0364-5134; 1531-8249; 1531-8249
• DOI: 10.1002/ana.25966

Objective Charcot–Marie–Tooth disease (CMT) reduces health‐related quality of life (QOL), especially in children. Defining QOL in pediatric CMT can help physicians monitor disease burden clinically and in trials. We identified items pertaining to QOL in children with CMT and conducted validation studies to develop a pediatric CMT‐specific QOL outcome measure (pCMT‐QOL). Methods Development and validation of the pCMT‐QOL patient‐reported outcome measure were iterative, involving identifying relevant domains, item pool generation, prospective pilot testing and clinical assessments, structured focus‐group interviews, and psychometric testing. Testing was conducted in children with CMT seen at participating sites from the USA, United Kingdom, and Australia. Results We conducted systematic literature reviews and analysis of generic QOL measures to identify 6 domains relevant to QOL in children with CMT. Sixty items corresponding to those domains were developed de novo, or identified from literature review and CMT‐specific modification of items from the pediatric Neuro‐QOL measures. The draft version underwent prospective feasibility and face content validity assessments to develop a working version of the pCMT‐QOL measure. From 2010 to 2016, the pCMT‐QOL working version was administered to 398 children aged 8 to 18 years seen at the participating study sites of the Inherited Neuropathies Consortium. The resulting data underwent rigorous psychometric analysis, including factor analysis, test–retest reliability, internal consistency, convergent validity, item response theory analysis, and longitudinal analysis, to develop the final pCMT‐QOL patient‐reported outcome measure. Interpretation The pCMT‐QOL patient‐reported outcome measure is a reliable, valid, and sensitive measure of health‐related QOL for children with CMT. ANN NEUROL 2021;89:369–379