Publication:
Development and validation of the Charcot-Marie-Tooth disease infant scale

Issued Date

2018-01-01

Resource Type

Article

ISSN

14602156
00068950

DOI

10.1093/brain/awy280

Other identifier(s)

2-s2.0-85057523314

Rights

Mahidol University

Rights Holder(s)

SCOPUS

Bibliographic Citation

Brain. Vol.141, No.12 (2018), 3319-3330

Suggested Citation

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 Development and validation of the Charcot-Marie-Tooth disease infant scale. Brain. Vol.141, No.12 (2018), 3319-3330. doi:10.1093/brain/awy280 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/47247

Research Projects

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Title

Development and validation of the Charcot-Marie-Tooth disease infant scale

Author(s)

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

Other Contributor(s)

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)

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.

Keyword(s)

Medicine

Availability

URI

https://repository.li.mahidol.ac.th/handle/20.500.14594/47247

Collections

Scopus 2018