{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T09:53:13Z","timestamp":1782899593894,"version":"3.54.5"},"reference-count":41,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T00:00:00Z","timestamp":1718064000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background and Objective: Patients with spinal muscular atrophy (SMA) treated with a disease-modifying therapy (DMT) are often classified as responders or non-responders based on the attainment of a specific improvement threshold on validated functional scales. This categorization may significantly impact treatment reimbursement in some countries. The aim of this research is to evaluate the perception of treatments and their benefit by patients considered as responders or non-responders. Methods: In this non-commercial multicenter study, 99 post-symptomatically treated SMA type I\u2013III patients with a median age of 11.2 (0.39\u201357.4) years at treatment initiation were stratified into three groups based on their treatment outcomes, i.e., those exhibiting clinically significant improvement (N = 41), those with non-clinically significant improvement (N = 18), or those showing no improvement (N = 40). Fifteen months after treatment, the initiation patients or patients\u2019 caregivers were assessed using a patient-rated scoring system based on the Patient Global Impression of Change (PGIC) scale, comprising 22 questions targeting important aspects and tasks in the daily life of patients with SMA. Results: We found no statistical difference in the patient perception of treatment benefits in 17 out of 22 domains across patient groups. Conclusions: Our results suggest that functional motor scales do not recapitulate patients\u2019 and patients\u2019 caregivers\u2019 experience of the effect of nusinersen treatment in SMA.<\/jats:p>","DOI":"10.3390\/jcm13123418","type":"journal-article","created":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T12:11:00Z","timestamp":1718107860000},"page":"3418","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Patients\u2019 Perceptions of Nusinersen Effects According to Their Responder Status"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-8219-6996","authenticated-orcid":false,"given":"Charlotte","family":"Lilien","sequence":"first","affiliation":[{"name":"MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford OX3 9DU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1510-0501","authenticated-orcid":false,"given":"Eva","family":"Vrscaj","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Paediatrics, University Hospital Liege & University of Liege, 4000 Liege, Belgium"},{"name":"Department for Pediatric Neurology, University Children\u2019s Hospital, University Medical Centre Ljubljana, Bohori\u010deva 20, 1525 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gita","family":"Thapaliya","sequence":"additional","affiliation":[{"name":"MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford OX3 9DU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Deconinck","sequence":"additional","affiliation":[{"name":"NMRC UZ Gent, Ghent University Hospital, 9000 Ghent, Belgium"},{"name":"Neuromuscular Reference Center and Department of Paediatric Neurology, H\u00f4pital Universitaire des Enfants Reine Fabiola, HUB, Universit\u00e9 Libre de Bruxelles, 1020 Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liesbeth","family":"De Waele","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University Hospitals Leuven, 3000 Leuven, Belgium"},{"name":"Department of Development and Regeneration, KU Leuven, 3000 Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina","family":"Duong","sequence":"additional","affiliation":[{"name":"John W. Day Lab, Department of Neurology and Neurological Sciences, University of Stanford, Stanford, CA 94305, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Haberlov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, 150 06 Praha, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4967-4797","authenticated-orcid":false,"given":"Mark\u00e9ta","family":"Kumhera","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, 150 06 Praha, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geertrui","family":"Peirens","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University Hospitals Leuven, 3000 Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lena","family":"Szabo","sequence":"additional","affiliation":[{"name":"Paediatric Center, Semmelweis University, 1083 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentine","family":"Tahon","sequence":"additional","affiliation":[{"name":"NMRC UZ Gent, Ghent University Hospital, 9000 Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Whitney J.","family":"Tang","sequence":"additional","affiliation":[{"name":"John W. Day Lab, Department of Neurology and Neurological Sciences, University of Stanford, Stanford, CA 94305, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noor","family":"Benmhammed","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Paediatrics, University Hospital Liege & University of Liege, 4000 Liege, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurie","family":"M\u00e9dard","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Paediatrics, University Hospital Liege & University of Liege, 4000 Liege, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9270-4061","authenticated-orcid":false,"given":"Laurent","family":"Servais","sequence":"additional","affiliation":[{"name":"MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford OX3 9DU, UK"},{"name":"Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Paediatrics, University Hospital Liege & University of Liege, 4000 Liege, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,6,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1002\/acn3.51281","article-title":"Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study","volume":"8","author":"Annoussamy","year":"2020","journal-title":"Ann. 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