Natural history of Charcot-Marie-Tooth disease during childhood
| Autor: | Manoj P. Menezes, Mary M. Reilly, Michael E. Shy, Matilde Laura, David N. Herrmann, R Shy, Francesco Muntoni, Emanuela Pagliano, Isabella Moroni, Paula Bray, T Estilow, T Bhandari, Kate Eichinger, Richard S. Finkel, Joshua Burns, Kayla M.D. Cornett, Mark Halaki, Davide Pareyson, Sabrina W. Yum |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Disease progression Disease Anthropometry Confidence interval Developmental psychology Natural history 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Neurology Internal medicine medicine Neurology (clinical) Early childhood Young adult Psychology 030217 neurology & neurosurgery Natural history study |
| Zdroj: | Annals of Neurology. 82:353-359 |
| ISSN: | 0364-5134 |
| DOI: | 10.1002/ana.25009 |
| Popis: | Objective To determine the rate of disease progression in a longitudinal natural history study of children with Charcot-Marie-Tooth (CMT) disease. Methods Two hundred six (103 female) participants aged 3 to 20 years enrolled in the Inherited Neuropathies Consortium were assessed at baseline and 2 years. Demographic, anthropometric, and diagnostic information were collected. Disease progression was assessed with the CMT Pediatric Scale (CMTPedS), a reliable Rasch-built linearly weighted disability scale evaluating fine and gross motor function, strength, sensation, and balance. Results On average, CMTPedS Total scores progressed at a rate of 2.4 ± 4.9 over 2 years (14% change from baseline; p |
| Databáze: | OpenAIRE |
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