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

S. Ramchandren,Tong-Tong Wu,R. Finkel,C. Siskind,S. Feely,J. Burns,M. Reilly,T. Estilow,M. Shy

Published 2020 in Annals of Neurology

ABSTRACT

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).

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