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A Screening Tool to...
A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism
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- Koens, Lisette H (author)
- University of Groningen
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- Klamer, Marrit R (author)
- University of Groningen
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- Sival, Deborah A (author)
- University Medical Center Groningen
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- Balint, Bettina (author)
- University of Zurich
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- Bhatia, Kailash P (author)
- University College London
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- Contarino, Maria Fiorella (author)
- Haga Teaching Hospital
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- van Egmond, Martje E (author)
- University Medical Center Groningen
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- Erro, Roberto (author)
- University of Salerno
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- Friedman, Jennifer (author)
- Rady Children’s Institute for Genomic Medicine
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- Fung, Victor S C (author)
- University of Sydney
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Ganos, Christos (author)
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Kurian, Manju A (author)
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Lang, Anthony E (author)
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McGovern, Eavan M (author)
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Roze, Emmanuel (author)
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- de Koning, Tom J (author)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,University Medical Center Groningen,University of Groningen
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Tijssen, Marina A J (author)
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(creator_code:org_t)
- 2023-02-02
- 2023
- English.
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In: Movement Disorders. - : Wiley. - 0885-3185 .- 1531-8257. ; 38:4, s. 646-653
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Abstract
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- BACKGROUND: Movement disorders are frequent in patients with inborn errors of metabolism (IEMs) but poorly recognized, particularly by nonmovement disorder specialists. We propose an easy-to-use clinical screening tool to help recognize movement disorders.OBJECTIVE: The aim is to develop a user-friendly rapid screening tool for nonmovement disorder specialists to detect moderate and severe movement disorders in patients aged ≥4 years with IEMs.METHODS: Videos of 55 patients with different IEMs were scored by experienced movement disorder specialists (n = 12). Inter-rater 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.RESULTS: A movement disorder was rated as present in 80% of the patients, with a moderate inter-rater agreement (κ =0.420, P < 0.001) on the presence of a movement disorder. When considering only moderate and severe movement disorders, the inter-rater agreement increased to almost perfect (κ = 0.900, P < 0.001). 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.CONCLUSIONS: 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. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
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- ref (subject category)
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- By the author/editor
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Koens, Lisette H
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Klamer, Marrit R
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Sival, Deborah A
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Balint, Bettina
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Bhatia, Kailash ...
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Contarino, Maria ...
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show more...
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van Egmond, Mart ...
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Erro, Roberto
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Friedman, Jennif ...
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Fung, Victor S C
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Ganos, Christos
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Kurian, Manju A
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Lang, Anthony E
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McGovern, Eavan ...
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Roze, Emmanuel
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de Koning, Tom J
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Tijssen, Marina ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
- Articles in the publication
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Movement Disorde ...
- By the university
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Lund University