Category: Rare Genetic and Metabolic Diseases
Objective: To develop a user-friendly rapid screening tool for non-movement disorder specialists to detect movement disorders in patients with inborn errors of metabolism.
Background: Movement disorders are frequent in patients with inborn errors of metabolism, but are poorly recognized, particularly by non-movement disorder specialists. We propose an easy-to-use clinical screening tool to overcome this issue.
Method: Videos of 55 patients with different inborn errors of metabolism and 5 healthy controls were scored by movement disorder specialists (n=12). Inter-rater agreements were determined on the presence and subtype of the movement disorder, and specialists were asked whether they would treat the movement disorder or not. Based on ranking and consensus, items were chosen to be incorporated into the screening tool.
Results: The specialists scored a movement disorder in 136 of the 180 ratings (75.6%), and there was a fair inter-rater agreement (κ =0.398; p <.001) on the presence of a movement disorder. When only looking to a moderate or severe movement disorder, the inter-rater agreement increased to almost perfect (κ =0.915; p <.001). Dystonia was most frequently (32.6%) scored as the dominant phenotype, followed by ataxia (15.2%). In 92 (51.1%) of the 180 scores, more than one movement disorder was rated by the specialists. Treatment was mainly suggested for patients with a moderate or severe movement disorder. Walking, observations of the arms, and drawing a spiral were found to be most informative, and these items were included in the screening tool.
Conclusion: In this study, we show that there is a very good inter-rater agreement among movement disorder specialists on the presence of moderate or severe movement disorders in patients with inborn errors of metabolism. Based on our findings, we designed a screening tool in order to optimize recognition of movement disorders. We propose that this screening tool can contribute to select patients that should be referred to a movement disorder specialist for further evaluation and, if necessary, treatment of the movement disorder.
To cite this abstract in AMA style:
L. Koens, M. Klamer, D. Sival, B. Balint, K. Bhatia, M. Contarino, M. van Egmond, R. Erro, J. Friedman, V. Fung, C. Ganos, M. Kurian, A. Lang, E. Mcgovern, E. Roze, T. de Koning, M. Tijssen. The development of a screening tool to identify movement disorders in patients with inborn errors of metabolism [abstract]. Mov Disord. 2022; 37 (suppl 2). https://www.mdsabstracts.org/abstract/the-development-of-a-screening-tool-to-identify-movement-disorders-in-patients-with-inborn-errors-of-metabolism/. Accessed May 15, 2025.« Back to 2022 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/the-development-of-a-screening-tool-to-identify-movement-disorders-in-patients-with-inborn-errors-of-metabolism/