{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T06:20:54Z","timestamp":1773642054606,"version":"3.50.1"},"reference-count":19,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T00:00:00Z","timestamp":1773619200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>This study aimed to adapt the Facioscapulohumeral Muscular Dystrophy - Health Index (FSHD-HI) for Serbian patients with facioscapulohumeral muscular dystrophy (FSHD) in order to measure their disease burden.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients and method<\/jats:title>\n                    <jats:p>Forty-one patients with genetically confirmed FSHD1 were included in the study. Validation involved reliability analysis (internal consistency), content validity, construct validity, and criterion validity analyses. The Comprehensive Clinical Evaluation Form (CCEF) was employed to capture various FSHD phenotypes. All patients completed the Serbian version of the Short Form Health Survey (SF-36) questionnaire, serving as a generic measure of the health-related quality of life (QoL).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      All patients found Serbian version of FSHD-HI (FSHD-HI-RS) understandable and that the language was appropriate and simple. The internal consistency of FSHD-HI-RS was excellent for the whole questionnaire (Cronbach\u2019s alpha &amp;gt;0.90). Test\u2013retest reliability met the required level (intraclass correlation coefficient 0.91). FSHD-HI scores showed significant correlations with disease duration (rho\u202f=\u202f0.564,\n                      <jats:italic>p<\/jats:italic>\n                      \u202f&amp;lt;\u202f0.01), muscle strength measured with Medical Research Council (MRC) sum score (rho\u202f=\u202f\u22120.708,\n                      <jats:italic>p<\/jats:italic>\n                      \u202f&amp;lt;\u202f0.01), and CCEF (rho\u202f=\u202f+0.716,\n                      <jats:italic>p<\/jats:italic>\n                      \u202f&amp;lt;\u202f0.01). FSHD-HI total score correlated significantly with the total SF-36 score (rho\u202f=\u202f\u22120.733,\n                      <jats:italic>p<\/jats:italic>\n                      \u202f&amp;lt;\u202f0.01).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our data demonstrate that FSHD-HI-RS is an understandable, reliable, and valid measure of the disease burden in FSHD. It is easy to administer and complete, and it can capture disease-specific features that may be omitted with generic QoL questionnaires.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fneur.2026.1720488","type":"journal-article","created":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T05:23:12Z","timestamp":1773638592000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Disease burden in Serbian patients with facioscapulohumeral muscular dystrophy"],"prefix":"10.3389","volume":"17","author":[{"given":"Branislav","family":"Ralic","sequence":"first","affiliation":[{"name":"Department of Neurology, Clinical Hospital Center Zvezdara","place":["Belgrade, Serbia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noemi","family":"Albano","sequence":"additional","affiliation":[{"name":"Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia","place":["Modena, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanja","family":"Viric","sequence":"additional","affiliation":[{"name":"Neurology Clinic, University Clinical Center of Serbia","place":["Belgrade, Serbia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andi","family":"Nuredini","sequence":"additional","affiliation":[{"name":"Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia","place":["Modena, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Arsic","family":"Azanjac","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Medical Sciences, University of Kragujevac","place":["Kragujevac, Serbia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonja","family":"Rajic","sequence":"additional","affiliation":[{"name":"Clinic of Neurology, University Clinical Center of Vojvodina","place":["Vojvodina, Serbia"]},{"name":"Faculty of Medicine, University of Novi Sad","place":["Novi Sad, Serbia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Marjanovic","sequence":"additional","affiliation":[{"name":"Neurology Clinic, University Clinical Center of Serbia","place":["Belgrade, Serbia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rossella","family":"Tupler","sequence":"additional","affiliation":[{"name":"Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia","place":["Modena, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chad","family":"Heatwole","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Rochester Medical Center","place":["Rochester, NY, United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stojan","family":"Peric","sequence":"additional","affiliation":[{"name":"Neurology Clinic, University Clinical Center of Serbia","place":["Belgrade, Serbia"]},{"name":"Faculty of Medicine, University of Belgrade","place":["Belgrade, Serbia"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,3,16]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1002\/mus.21671","article-title":"A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: the FSHD clinical score","volume":"42","author":"Lamperti","year":"2010","journal-title":"Muscle Nerve"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/mus.20522","article-title":"Facioscapulohumeral muscular dystrophy","volume":"34","author":"Tawil","year":"2006","journal-title":"Muscle Nerve"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"550","DOI":"10.1111\/j.1399-0004.2009.01158.x","article-title":"Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a 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Clinical trial preparedness in facioscapulohumeral muscular dystrophy: clinical, tissue, and imaging outcome measures 29-30 2015, Rochester, New York","volume":"26","author":"Tawil","year":"2016","journal-title":"Neuromuscul Disord"},{"key":"ref14","year":""},{"key":"ref15","doi-asserted-by":"publisher","first-page":"687","DOI":"10.3390\/cells11040687","article-title":"Outcome measures in facioscapulohumeral muscular dystrophy clinical trials","volume":"11","author":"Ghasemi","year":"2022","journal-title":"Cells"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"1204","DOI":"10.1007\/s00415-016-8123-2","article-title":"A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes","volume":"263","author":"Ricci","year":"2016","journal-title":"J Neurol"},{"key":"ref17","article-title":"SF-36 health survey (original version) language recalls","year":"2020"},{"key":"ref18","doi-asserted-by":"publisher","first-page":"1077","DOI":"10.1016\/j.nmd.2017.09.007","article-title":"Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data","volume":"27","author":"Goselink","year":"2017","journal-title":"Neuromuscul Disord"},{"key":"ref19","year":""}],"container-title":["Frontiers in Neurology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2026.1720488\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T05:23:14Z","timestamp":1773638594000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2026.1720488\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,16]]},"references-count":19,"alternative-id":["10.3389\/fneur.2026.1720488"],"URL":"https:\/\/doi.org\/10.3389\/fneur.2026.1720488","relation":{},"ISSN":["1664-2295"],"issn-type":[{"value":"1664-2295","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,16]]},"article-number":"1720488"}}