WFRF:(de Koning Tom J.)
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 04292naa a2200481 4500 | |
| 001 | oai:lup.lub.lu.se:af0c5322-b9c0-43f4-8470-de1a0e0562da | |
| 003 | SwePub | |
| 008 | 230209s2023 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://lup.lub.lu.se/record/af0c5322-b9c0-43f4-8470-de1a0e0562da2 URI |
| 024 | 7 | a https://doi.org/10.1002/mds.293322 DOI |
| 040 | a (SwePub)lu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a art2 swepub-publicationtype |
| 072 | 7 | a ref2 swepub-contenttype |
| 100 | 1 | a Koens, Lisette Hu University of Groningen4 aut |
| 245 | 1 0 | a A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism |
| 264 | c 2023-02-02 | |
| 264 | 1 | b Wiley,c 2023 |
| 520 | a 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. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng |
| 700 | 1 | a Klamer, Marrit Ru University of Groningen4 aut |
| 700 | 1 | a Sival, Deborah Au University Medical Center Groningen4 aut |
| 700 | 1 | a Balint, Bettinau University of Zurich4 aut |
| 700 | 1 | a Bhatia, Kailash Pu University College London4 aut |
| 700 | 1 | a Contarino, Maria Fiorellau Haga Teaching Hospital4 aut |
| 700 | 1 | a van Egmond, Martje Eu University Medical Center Groningen4 aut |
| 700 | 1 | a Erro, Robertou University of Salerno4 aut |
| 700 | 1 | a Friedman, Jenniferu Rady Children’s Institute for Genomic Medicine4 aut |
| 700 | 1 | a Fung, Victor S Cu University of Sydney4 aut |
| 700 | 1 | a Ganos, Christos4 aut |
| 700 | 1 | a Kurian, Manju A4 aut |
| 700 | 1 | a Lang, Anthony E4 aut |
| 700 | 1 | a McGovern, Eavan M4 aut |
| 700 | 1 | a Roze, Emmanuel4 aut |
| 700 | 1 | a de Koning, Tom Ju 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 Groningen4 aut0 (Swepub:lu)to2856jd |
| 700 | 1 | a Tijssen, Marina A J4 aut |
| 710 | 2 | a University of Groningenb University Medical Center Groningen4 org |
| 773 | 0 | t Movement Disordersd : Wileyg 38:4, s. 646-653q 38:4<646-653x 0885-3185x 1531-8257 |
| 856 | 4 | u http://dx.doi.org/10.1002/mds.29332x freey FULLTEXT |
| 856 | 4 8 | u https://lup.lub.lu.se/record/af0c5322-b9c0-43f4-8470-de1a0e0562da |
| 856 | 4 8 | u https://doi.org/10.1002/mds.29332 |
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