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Title: Development and validation of the Charcot-Marie-Tooth disease infant scale
Authors: Melissa R. Mandarakas
Manoj P. Menezes
Kristy J. Rose
Rosemary Shy
Kate Eichinger
Maria Foscan
Timothy Estilow
Rachel Kennedy
Karen Herbert
Paula Bray
Kathryn Refshauge
Monique M. Ryan
Eppie M. Yiu
Michelle Farrar
Hugo Sampaio
Isabella Moroni
Emanuela Pagliano
Davide Pareyson
Sabrina W. Yum
David N. Herrmann
Gyula Acsadi
Michael E. Shy
Joshua Burns
Oranee Sanmaneechai
University of New South Wales (UNSW) Australia
University of Rochester
The University of Sydney
Connecticut Children's Medical Center
Foundation IRCCS Neurological Institute "C. Besta"
Faculty of Medicine, Siriraj Hospital, Mahidol University
Murdoch Children's Research Institute
University of Iowa Hospitals & Clinics
University of Pennsylvania
Sydney Children's Hospitals Network (Randwick and Westmead)
Keywords: Medicine
Issue Date: 1-Jan-2018
Citation: Brain. Vol.141, No.12 (2018), 3319-3330
Abstract: © The Author(s) (2018). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. Many genetic subtypes of Charcot-Marie-Tooth disease (CMT) show signs of symptomatic disease during the earliest years of life. This might be the ideal time to intervene before progression of clinical sequelae due to demyelination and axonal loss. In the absence of disease-specific clinical trial outcome measures for CMT during infancy and early childhood the aim of this study was to develop and validate a functional measure of disease severity, known as the Charcot-Marie-Tooth disease Infant Scale (CMTInfS). Development projects involved identification of a preliminary pool of 31 items representing the range of disability in affected patients aged 0-4 years from a systematic review of the literature, peer review by 12 expert clinicians and researchers in the field, design of a scoring algorithm and pilot testing in 22 participants. Subsequently, a series of validation projects were conducted based on 128 assessments of: 26 confirmed cases of inherited neuropathy (17 CMT1A, one CMT1B, one CMT1D, one CMT2C, one CMT2S, two CMT4C, one CMTX3, one Riboflavin Transporter Deficiency Type 2, and one unidentified mutation); seven 'at risk' cases and 95 unaffected healthy controls recruited through the NIH-funded Inherited Neuropathies Consortium. Validation projects included: Item, Factor and Rasch analysis, intra- and inter-rater reliability, discriminant ability and convergent validity with the CMT Pediatric Scale (CMTPedS) for children aged 3-4 years. Development and validation projects produced a psychometrically robust 15-item scale. Rasch analysis supported the viability of the CMTInfS as a unidimensional measure of disease severity and showed good overall model fit, no evidence of misfitting items or persons and was well targeted for affected children. The CMTInfS demonstrated high intra-rater reliability [intraclass correlation coefficient (ICC) 3,1 0.999, 95% confidence interval 0.996-1.000) and inter-rater reliability (ICC 2,1 0.997, 95% confidence interval 0.992-0.999). The CMTInfS was able to discriminate between the CMT group and controls (P = 0.006), and convergent validity demonstrated good agreement between CMTInfS and CMTPedS scores (r = 0.76, P = 0.01). The final version of the CMTInfS requires 20 min to administer and is a reliable and sensitive functional outcome measure for early onset CMT and related neuropathies.
ISSN: 14602156
Appears in Collections:Scopus 2018

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