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A screening tool to quickly identify movement disorders in patients with inborn errors of metabolism

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posted on 2023-02-20, 17:09 authored by Lisette H Koens, Marrit R Klamer, Deborah A Sival, Bettina Balint, Kailash P Bhatia, Maria Fiorella Contarino, Martje E van Egmond, Roberto Erro, Jennifer Friedman, Victor S C Fung, Christos Ganos, Manju A Kurian, Anthony E Lang, Eavan McGovernEavan McGovern, Emmanuel Roze, Tom J de Koning, Marina A J Tijssen

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.

Funding

Stichting Stofwisselkracht (Metabolic Power Foundation), project number 2016-11.

History

Comments

The original article is available at https://movementdisorders.onlinelibrary.wiley.co

Published Citation

Koens LH. et al. A screening tool to quickly identify movement disorders in patients with inborn errors of metabolism. Mov Disord. 2023;38(4):646-653.

Publication Date

2 February 2023

PubMed ID

36727539

Department/Unit

  • Beaumont Hospital
  • School of Medicine

Publisher

Wiley-Liss

Version

  • Published Version (Version of Record)