{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T06:41:52Z","timestamp":1782456112670,"version":"3.54.5"},"reference-count":53,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2024,8,26]],"date-time":"2024-08-26T00:00:00Z","timestamp":1724630400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"\u201cVictor Babe\u0219\u201d University of Medicine and Pharmacy Timi\u0219oara"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurology International"],"abstract":"<jats:p>Spinal muscular atrophy (SMA), identified over a century ago, is characterized by severe muscle wasting and early mortality. Despite its rarity, the high carrier frequency of the responsible genetic mutations and the variability in its manifestations make it a significant research focus. This prospective cross-sectional descriptive study evaluated health-related quality of life (HRQoL) across eight health domains in 43 Romanian SMA patients treated with nusinersen, using the SF-36 questionnaire to analyze influencing factors. The survey was conducted online with informed consent, and the data were analyzed using MedCalc software, employing both parametric and non-parametric statistical tests for accurate interpretation. The results revealed significant variations in HRQoL. Most patients were non-ambulatory (74.4%), reflecting SMA\u2019s impact on mobility. Urban residents reported better outcomes, particularly in physical functioning (p = 0.014), which may be attributed to improved access to healthcare services. Younger participants (under 14), represented by proxy responses, noted better general health (p = 0.0072) and emotional well-being (p = 0.0217) compared to older participants. These findings suggest that younger patients or their proxies perceive a better health status, highlighting the need for age-specific approaches in SMA management and the potential optimistic bias associated with proxy reporting on perceived health outcomes.<\/jats:p>","DOI":"10.3390\/neurolint16050067","type":"journal-article","created":{"date-parts":[[2024,8,27]],"date-time":"2024-08-27T11:58:46Z","timestamp":1724759926000},"page":"891-904","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Quality of Life Assessment in Romanian Patients with Spinal Muscular Atrophy Undergoing Nusinersen Treatment"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-7752-3435","authenticated-orcid":false,"given":"Bogdana","family":"Cavaloiu","sequence":"first","affiliation":[{"name":"PhD School, Faculty of Medicine, Department of Microscopic Morphology, Genetics Discipline, Center of Genomic Medicine, \u2018Victor Babe\u015f\u2019 University of Medicine and Pharmacy of Timi\u0219oara, 300041 Timisoara, Romania"},{"name":"Department of Radiology, \u201cVictor Gomoiu\u201d Children\u2019s Clinical Hospital, 022102 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7768-2968","authenticated-orcid":false,"given":"Iulia-Elena","family":"Simina","sequence":"additional","affiliation":[{"name":"Department of Genetics, Center of Genomic Medicine, \u2018Victor Babe\u015f\u2019 University of Medicine and Pharmacy of Timi\u0219oara, 300041 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3664-1945","authenticated-orcid":false,"given":"Lazar","family":"Chisavu","sequence":"additional","affiliation":[{"name":"Nephrology Department, University of Medicine and Pharmacy \u201cVictor Babes\u201d, 300041 Timisoara, Romania"},{"name":"Centre for Molecular Research in Nephrology and Vascular Disease, Faculty of Medicine \u201cVictor Babes\u201d, 300041 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Crisanda","family":"Vilciu","sequence":"additional","affiliation":[{"name":"Department of Neurology, \u2018Carol Davila\u2019 University of Medicine and Pharmacy, 020021 Bucharest, Romania"},{"name":"Neurology Clinic \u2018Fundeni\u2019 Clinical Institute, 022328 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iuliana-Anamaria","family":"Tr\u0103il\u0103","sequence":"additional","affiliation":[{"name":"Department of Pathology, \u2018Pius Brinzeu\u2019 Emergency County Clinical Hospital, 300723 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4078-2831","authenticated-orcid":false,"given":"Maria","family":"Puiu","sequence":"additional","affiliation":[{"name":"Department of Genetics, Center of Genomic Medicine, \u2018Victor Babe\u015f\u2019 University of Medicine and Pharmacy of Timi\u0219oara, 300041 Timisoara, Romania"},{"name":"Regional Center of Medical Genetics Timi\u0219, Clinical Emergency Hospital for Children \u201cLouis \u021aurcanu\u201d, 300011 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1001\/archneur.1971.00490030102014","article-title":"Two early infantile hereditary cases of progressive muscular atrophy simulating dystrophy, but on a neural basis. 1891","volume":"25","author":"Werdnig","year":"1971","journal-title":"Arch. 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