A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism - Sorbonne Université Access content directly
Journal Articles Movement Disorders Year : 2023

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

Lisette H Koens
Marrit R Klamer
  • Function : Author
Deborah A Sival
  • Function : Author
Bettina Balint
Kailash P Bhatia
Maria Fiorella Contarino
Martje E van Egmond
Roberto Erro
Jennifer Friedman
  • Function : Author
Victor S C Fung
Christos Ganos
Manju A Kurian
Anthony E Lang
Eavan M Mcgovern
  • Function : Author
Tom J de Koning
Marina a J Tijssen

Abstract

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.
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hal-04530878 , version 1 (03-04-2024)

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Lisette H Koens, Marrit R Klamer, Deborah A Sival, Bettina Balint, Kailash P Bhatia, et al.. A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism. Movement Disorders, 2023, 38, pp.646 - 653. ⟨10.1002/mds.29332⟩. ⟨hal-04530878⟩
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