Journal article
Development and validation of the Charcot-Marie-Tooth disease infant scale
MR Mandarakas, MP Menezes, KJ Rose, R Shy, K Eichinger, M Foscan, T Estilow, R Kennedy, K Herbert, P Bray, K Refshauge, MM Ryan, EM Yiu, M Farrar, H Sampaio, I Moroni, E Pagliano, D Pareyson, SW Yum, DN Herrmann Show all
Brain | OXFORD UNIV PRESS | Published : 2018
DOI: 10.1093/brain/awy280
Abstract
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 l..
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Awarded by National Institutes of Health
Funding Acknowledgements
This project was supported by the Inherited Neuropathies Consortium (INC), part of the Rare Diseases Clinical Research Network, and was funded by the National Institutes of Health (#U54NS065712 supported by National Institutes of Neurological Diseases and Stroke and Office of Rare Diseases). The INC also receives support from the American Muscular Dystrophy Association and the Charcot Marie Tooth Association (CMTA). This project was also supported by the University of Sydney South East Asia Centre Cluster Research Grant (2015).