Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD)
Goselink RJ, Schreuder TH, Mul K, Voermans NC, Pelsma M, de Groot IJ, van Alfen N, Franck B, Theelen T, Lemmers RJ, Mah JK, van der Maarel SM, van Engelen BG, Erasmus CE.
BMC Neurol. 2016. 17;16:138.
Protocol of a population-based prospective cohort study on Facio-scapulohumeral dystrophy in children. The children will be assessed at baseline and at 2-year follow-up. The primary outcome is the motor function as measured by the MFM.
Keywords: Facioscapulohumeral dystrophy; Muscular dystrophies; Neuromuscular diseases; Observational study; Pediatrics
Articles dans les revues scientifiques
Rasch analysis to evaluate the motor function measure for patients with facioscapulohumeral muscular dystrophy
Mul K, Horlings CGC, Faber CG, van Engelen BGM, Merkies ISJ. Int J Rehabil Res. 2021. 1;44(1):38-44. A Rasch analyses was performed on MFM data from 194 FSHD patients to assess clinimetric properties in this patient group.Rasch analysis revealed multiple limitations...
Assessment of the validity and reliability of the 32-item Motor Function Measure in individuals with Type 2 or non-ambulant Type 3 spinal muscular atrophy
Trundell D, Le Scouiller S, Le Goff L, Gorni K, Vuillerot C. PLoS One. 2020 Sep 18;15(9):e0238786. Cette étude visait à examiner la fiabilité, la validité et la capacité à détecter les changements de la MFM32 chez des sujets atteints d'Amyotrophie Spinale Infantile...
Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen
Gómez-García de la Banda M, Amaddeo A, Khirani S, Pruvost S, Barnerias C, Dabaj I, Bénézit A, Durigneux J, Carlier RY, Desguerre I, Quijano-Roy S, Fauroux B. Pediatr Pulmonol. 2021. 56(1):299-306. La performance des muscles respiratoires et la fonction pulmonaire ont...
Association Between Health-Related Quality of Life and Motor Function in Ambulant and Nonambulant Duchenne Muscular Dystrophy Patients
Gocheva V, Schmidt S, Orsini AL, Hafner P, Schaedelin S, Rueedi N, Weber P, Fischer D. J Child Neurol. 2019. 34(14):873-885. Étude transversale évaluant la qualité de vie liée à la santé (HRQOL) chez des patients ambulants et non ambulants atteints de dystrophie...
Validity and Reliability of the 32-Item Motor Function Measure in 2- to 5-Year-Olds with Neuromuscular Disorders and 2- to 25-Year-Olds with Spinal Muscular Atrophy
Trundell D, Le Scouiller S, Gorni K, Seabrook T, Vuillerot C, SMA MFM Study Group. Neurol Ther. 2020. 9(2):575-584. Étude de la validité et de la fiabilité de la MFM32 chez des personnes atteintes de maladies neuromusculaires, y compris d’amyotrophie spinale infantile...
Health-related quality of life, self-reported impairments and activities of daily living in relation to muscle function in post-polio syndrome
Gocheva V, Hafner P, Orsini AL, Schmidt S, Schaedelin S, Rueedi N, Rubino-Nacht D, Weber P, Fischer D. J Patient Rep Outcomes. 2020. 16;4(1):59. Étude de la qualité de vie liée à la santé (HRQOL), des déficiences autodéclarées et des activités de la vie quotidienne et...