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Sökning: WFRF:(de Koning Tom J.) > (2023) > A Screening Tool to...

  • Koens, Lisette HUniversity of Groningen (författare)

A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism

  • Artikel/kapitelEngelska2023

Förlag, utgivningsår, omfång ...

  • 2023-02-02
  • Wiley,2023

Nummerbeteckningar

  • LIBRIS-ID:oai:lup.lub.lu.se:af0c5322-b9c0-43f4-8470-de1a0e0562da
  • https://lup.lub.lu.se/record/af0c5322-b9c0-43f4-8470-de1a0e0562daURI
  • https://doi.org/10.1002/mds.29332DOI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

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Klassifikation

  • Ämneskategori:art swepub-publicationtype
  • Ämneskategori:ref swepub-contenttype

Anmärkningar

  • 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.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Klamer, Marrit RUniversity of Groningen (författare)
  • Sival, Deborah AUniversity Medical Center Groningen (författare)
  • Balint, BettinaUniversity of Zurich (författare)
  • Bhatia, Kailash PUniversity College London (författare)
  • Contarino, Maria FiorellaHaga Teaching Hospital (författare)
  • van Egmond, Martje EUniversity Medical Center Groningen (författare)
  • Erro, RobertoUniversity of Salerno (författare)
  • Friedman, JenniferRady Children’s Institute for Genomic Medicine (författare)
  • Fung, Victor S CUniversity of Sydney (författare)
  • Ganos, Christos (författare)
  • Kurian, Manju A (författare)
  • Lang, Anthony E (författare)
  • McGovern, Eavan M (författare)
  • Roze, Emmanuel (författare)
  • de Koning, Tom JLund 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(Swepub:lu)to2856jd (författare)
  • Tijssen, Marina A J (författare)
  • University of GroningenUniversity Medical Center Groningen (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Movement Disorders: Wiley38:4, s. 646-6530885-31851531-8257

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