A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism
(2023) In Movement Disorders 38(4). p.646-653- 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... (More)
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.
(Less)
- author
- organization
- publishing date
- 2023-02-02
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Movement Disorders
- volume
- 38
- issue
- 4
- pages
- 646 - 653
- publisher
- John Wiley & Sons Inc.
- external identifiers
-
- scopus:85147412253
- pmid:36727539
- ISSN
- 0885-3185
- DOI
- 10.1002/mds.29332
- language
- English
- LU publication?
- yes
- additional info
- © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
- id
- af0c5322-b9c0-43f4-8470-de1a0e0562da
- date added to LUP
- 2023-02-09 09:50:59
- date last changed
- 2024-04-18 18:41:38
@article{af0c5322-b9c0-43f4-8470-de1a0e0562da,
abstract = {{<p>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.</p><p>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.</p><p>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.</p><p>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.</p><p>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.</p>}},
author = {{Koens, Lisette H and Klamer, Marrit R and Sival, Deborah A and Balint, Bettina and Bhatia, Kailash P and Contarino, Maria Fiorella and van Egmond, Martje E and Erro, Roberto and Friedman, Jennifer and Fung, Victor S C and Ganos, Christos and Kurian, Manju A and Lang, Anthony E and McGovern, Eavan M and Roze, Emmanuel and de Koning, Tom J and Tijssen, Marina A J}},
issn = {{0885-3185}},
language = {{eng}},
month = {{02}},
number = {{4}},
pages = {{646--653}},
publisher = {{John Wiley & Sons Inc.}},
series = {{Movement Disorders}},
title = {{A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism}},
url = {{http://dx.doi.org/10.1002/mds.29332}},
doi = {{10.1002/mds.29332}},
volume = {{38}},
year = {{2023}},
}