@article{1e3bd0ccb39848c5a4dd85d13218f164,
title = "Change over time in ability to perform activities of daily living in myotonic dystrophy type 1",
abstract = "Objective The objective of this longitudinal, observational study was to investigate change over time in ability to perform activities of daily living in myotonic dystrophy type 1 (DM1). Methods Adults with genetically confirmed DM1 were recruited as part of the PhenoDM1 study in the UK. Data on activities of daily living were recorded through the DM1-Activ (c) at baseline and a follow-up visit after 12 (+/- 3) months. A subset of patients had advanced genetic testing to determine the size of the progenitor allele. Results Our sample comprised 150 patients with DM1 (mean age: 45 years; 52% female). Mean follow-up was 383 days. Mean DM1-Activ (c) total score at baseline was 71.24 (95% confidence interval 67.77-74.71) and at the follow-up visit 69.04 (65.54-72.54). Approximately 43% of patients had a lower score at the follow-up visit (indicating a decreased ability to perform activities of daily living), 24% a higher score (indicating an increased ability), and 33% the same score at baseline and follow-up. The mean annual change in the DM1-Activ (c) total score, estimated at - 2.06 (- 3.54 to - 0.59), was significantly related to patients' baseline score, but not sex, disease duration, timed test results, or cytosine-thymine-guanine repeat length. Conclusions Change over time in ability to perform activities of daily living as recorded through the DM1-Activ (c) varies substantially between patients with DM1. Our data contribute to the understanding of the natural evolution of the disease, and should be helpful to inform the design of future trials based on the DM1-Activ (c).",
keywords = "activities of daily living, disability, outcome measures, participation, phenodm1, Disability, Participation, Activities of daily living, OUTCOME MEASURES, PhenoDM1",
author = "E. Landfeldt and N. Nikolenko and C. Jimenez-Moreno and S. Cumming and D.G. Monckton and C.G. Faber and I.S.J. Merkies and G. Gorman and C. Turner and H. Lochmuller",
note = "Funding Information: Dr. Landfeldt is an employee of ICON plc (Stockholm, Sweden), outside the submitted work. Dr. Monckton reports having a research contract with Newcastle University during the conduct of the study; personal fees from AMO Pharma, Vertex, Charles River, BridgeBio, Small molecule RNA, and personal fees for scientific advisory board membership from Triplet Therapeutics and LoQus23, outside the submitted work. Dr. Monckton is on the scientific advisory board of the Myotonic Dystrophy Foundation and is a scientific advisor to the Myotonic Dystrophy Support Group. Dr. Faber reports research support from the European Union{\textquoteright}s Horizon 2020 research and innovation programme Marie Sklodowska-Curie grant for PAIN-Net, Molecule-to-man pain network (grant no. 721841), the European Union 7th Framework Programme (Grant no. 602273) for the PROPANE study, Prinses Beatrix Spierfonds, and Grifols and Lamepro for a trial on IVIg in small fibre neuropathy, outside the submitted work. Dr. Faber has participated in steering committees for studies in small fibre neuropathy of Biogen/Convergence and Vertex outside the submitted work. Dr. Merkies received funding for research from the Talecris Talents program, the GSB CIDP Foundation International, Princes Beatrix foundation, and from the European Union 7th Framework Programme (Grant no. 602273) outside the submitted work. Furthermore, a research foundation at the University of Maastricht received honoraria on behalf of Dr. Merkies for participation in steering committees of the Talecris ICE Study, LFB, CSL Behring, Novartis, Grifols, and Octapharma outside the submitted work. Dr. Merkies serves on the editorial board of the Journal of Peripheral Nervous system, is a member of the Inflammatory Neuropathy Consortium (INC), and member of the Peripheral Nerve Society. Dr. Turner reports financial support from the Biomedical Research Council and the National Brain Appeal. Dr. Lochm{\"u}ller is an investigator of the Medical Research Council UK Centre for Neuromuscular Diseases (reference G1002274, grant ID 98482). The other authors report no conflicts of interest. Funding Information: This study has been supported by the National Institute of Health Research (NIHR) under the RD-TRC programme and by the Wyck Foundation. Acknowledgements Funding Information: Open access funding provided by Karolinska Institute. The authors would like to thank all the participants and collaborators involved in PhenoDM1. Publisher Copyright: {\textcopyright} 2020, The Author(s).",
year = "2020",
month = nov,
day = "1",
doi = "10.1007/s00415-020-09970-6",
language = "English",
volume = "267",
pages = "3235--3242",
journal = "Journal of Neurology",
issn = "0340-5354",
publisher = "Springer",
number = "11",
}