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

• Published in: Movement disorders Vol. 38; no. 4; pp. 646 - 653
• Main Authors: Koens, Lisette H., Klamer, Marrit R., Sival, Deborah A., Balint, Bettina, Bhatia, Kailash P., Contarino, Maria Fiorella, Egmond, Martje E., Erro, Roberto, Friedman, Jennifer, Fung, Victor S.C., Ganos, Christos, Kurian, Manju A., Lang, Anthony E., McGovern, Eavan M., Roze, Emmanuel, Koning, Tom J., Tijssen, Marina A.J.
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01-04-2023; Wiley Subscription Services, Inc; Wiley
• Subjects: Clinical Medicine; diagnosis; Dystonia; Dystonic Disorders - diagnosis; Humans; Inborn errors of metabolism; Klinisk medicin; Life Sciences; Medical and Health Sciences; Medical diagnosis; Medicin och hälsovetenskap; Metabolism; Metabolism, Inborn Errors - diagnosis; Movement disorders; Movement Disorders - diagnosis; Movement Disorders - etiology; Neurologi; Neurology; Neurons and Cognition; Parkinson's disease; Patients; Phenotypes; screening tool; inborn errors of metabolism; diagnosis; movement disorders; screening tool
• ISSN: 0885-3185; 1531-8257
• DOI: 10.1002/mds.29332

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.