The Dutch registry for facioscapulohumeral muscular dystrophy: Cohort profile and longitudinal patient reported outcomes.

Autor: Kools J; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands., Deenen JC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands., Blokhuis AM; Sint Maartenskliniek, Department of Rehabilitation, Nijmegen, The Netherlands., Verbeek AL; Department for Health Evidence, Radboud university medical center, Nijmegen, The Netherlands., Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands. Electronic address: Nicol.Voermans@radboudumc.nl., van Engelen BG; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.
Jazyk: angličtina
Zdroj: Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Dec; Vol. 33 (12), pp. 964-971. Date of Electronic Publication: 2023 Nov 04.
DOI: 10.1016/j.nmd.2023.10.020
Abstrakt: Facioscapulohumeral dystrophy (FSHD) is the second most prevalent inherited muscular disorder and currently lacks a pharmaceutical treatment. The Dutch FSHD Registry was initiated in 2015 as a result of an international collaboration on trial readiness. This paper presents the cohort profile and six years of follow-up data of the registered FSHD patients. At the time of self-registration and every six months thereafter, participants were invited to complete a digital survey of patient and disease characteristics and the Dutch versions of the Checklist Individual Strength (CIS20R), the Individualised Neuromuscular Quality of Life Questionnaire (INQoL), the Beck Depression Index - Primary Care and the McGill Pain Questionnaire. From March 2015 to March 2021, 373 participants completed at least one survey. At baseline, fatigue and muscle weakness were the most frequently reported symptoms (median CIS20R sumscore 77 [IQR 60-92], median INQoL Fatigue score 58 [IQR 42-68] and median INQoL weakness score 58 [IQR 42-68]). Pain was experienced most often in the head and shoulder region (193, 52%). Nineteen of the 23 (sub)sections of questionnaires showed no significant changes over time. We conclude that the Dutch FSHD Registry was successfully set up, enabling collection of longitudinal data and facilitating recruitment in several studies.
Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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