{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T07:56:05Z","timestamp":1769068565984,"version":"3.49.0"},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,2,2]],"date-time":"2023-02-02T00:00:00Z","timestamp":1675296000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100016065","name":"Stichting Stofwisselkracht","doi-asserted-by":"publisher","award":["2016\u201011"],"award-info":[{"award-number":["2016\u201011"]}],"id":[{"id":"10.13039\/100016065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Movement disorders are frequent in patients with inborn errors of metabolism (IEMs) but poorly recognized, particularly by nonmovement disorder specialists. We propose an easy\u2010to\u2010use clinical screening tool to help recognize movement disorders.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>The aim is to develop a user\u2010friendly rapid screening tool for nonmovement disorder specialists to detect moderate and severe movement disorders in patients aged \u22654\u2009years with IEMs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Videos of 55 patients with different IEMs were scored by experienced movement disorder specialists (n\u00a0=\u00a012). Inter\u2010rater agreements were determined on the presence and subtype of the movement disorder. Based on ranking and consensus, items were chosen to be incorporated into the screening tool.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A movement disorder was rated as present in 80% of the patients, with a moderate inter\u2010rater agreement (\u03ba =0.420, <jats:italic>P<\/jats:italic>\u00a0&lt;\u20090.001) on the presence of a movement disorder. When considering only moderate and severe movement disorders, the inter\u2010rater agreement increased to almost perfect (\u03ba\u00a0=\u00a00.900, <jats:italic>P<\/jats:italic>\u00a0&lt;\u20090.001). Dystonia was most frequently scored (27.3%) as the dominant phenotype. Treatment was mainly suggested for patients with moderate or severe movement disorders. Walking, observations of the arms, and drawing a spiral were found to be the most informative tasks and were included in the screening tool.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We designed a screening tool to recognize movement disorders in patients with IEMs. We propose that this screening tool can contribute to select patients who should be referred to a movement disorder specialist for further evaluation and, if necessary, treatment of the movement disorder. \u00a9 2023 The Authors. <jats:italic>Movement Disorders<\/jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.29332","type":"journal-article","created":{"date-parts":[[2023,2,2]],"date-time":"2023-02-02T05:07:52Z","timestamp":1675314472000},"page":"646-653","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism"],"prefix":"10.1002","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2864-4225","authenticated-orcid":false,"given":"Lisette H.","family":"Koens","sequence":"first","affiliation":[{"name":"Department of Neurology University of Groningen, University Medical Center Groningen  Groningen The Netherlands"},{"name":"Expertise Center Movement Disorders Groningen University Medical Center Groningen  Groningen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marrit R.","family":"Klamer","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Groningen, University Medical Center Groningen  Groningen The Netherlands"},{"name":"Expertise Center Movement Disorders Groningen University Medical Center Groningen  Groningen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah A.","family":"Sival","sequence":"additional","affiliation":[{"name":"Expertise Center Movement Disorders Groningen University Medical Center Groningen  Groningen The Netherlands"},{"name":"Department of Pediatric Neurology University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital  Groningen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4127-8554","authenticated-orcid":false,"given":"Bettina","family":"Balint","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital Zurich, University of Zurich  Zurich Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8185-286X","authenticated-orcid":false,"given":"Kailash P.","family":"Bhatia","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology, University College London  London United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0312-184X","authenticated-orcid":false,"given":"Maria Fiorella","family":"Contarino","sequence":"additional","affiliation":[{"name":"Department of Neurology Haga Teaching Hospital  The Hague The Netherlands"},{"name":"Department of Neurology Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2648-6937","authenticated-orcid":false,"given":"Martje E.","family":"van Egmond","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Groningen, University Medical Center Groningen  Groningen The Netherlands"},{"name":"Expertise Center Movement Disorders Groningen University Medical Center Groningen  Groningen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7800-7419","authenticated-orcid":false,"given":"Roberto","family":"Erro","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u201cScuola Medica Salernitana\u201d Neuroscience Section, University of Salerno  Baronissi Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Friedman","sequence":"additional","affiliation":[{"name":"UCSD Department of Neuroscience and Pediatrics Rady Children's Hospital Division of Neurology, Rady Children's Institute for Genomic Medicine  San Diego California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3085-2282","authenticated-orcid":false,"given":"Victor S.C.","family":"Fung","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, Department of Neurology Westmead Hospital, Sydney Medical School, The University of Sydney  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8077-8530","authenticated-orcid":false,"given":"Christos","family":"Ganos","sequence":"additional","affiliation":[{"name":"Department of Neurology Charit\u00e9 University Medicine Berlin  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3529-5075","authenticated-orcid":false,"given":"Manju A.","family":"Kurian","sequence":"additional","affiliation":[{"name":"Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children UCL Great Ormond Street Institute of Child Health  London United Kingdom"},{"name":"Department of Neurology Great Ormond Street Hospital for Children  London United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1229-3667","authenticated-orcid":false,"given":"Anthony E.","family":"Lang","sequence":"additional","affiliation":[{"name":"Tanz Centre for Research in Neurodegenerative Diseases University of Toronto  Toronto Ontario Canada"},{"name":"Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic Toronto Western Hospital  Toronto Ontario Canada"},{"name":"Krembil Brain Institute  Toronto Ontario Canada"},{"name":"Department of Medicine University Health Network  Toronto Ontario Canada"},{"name":"Division of Neurology University Health Network  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eavan M.","family":"McGovern","sequence":"additional","affiliation":[{"name":"Department of Neurology Beaumont Hospital Dublin  Dublin Ireland"},{"name":"School of Medicine Royal College of Surgeons in Ireland  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9727-3459","authenticated-orcid":false,"given":"Emmanuel","family":"Roze","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9 Institut du Cerveau\u2014Paris Brain Institute\u2014ICM, Inserm, CNRS  Paris 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