Diagnostic approach to paediatric movement disorders : a clinical practice guide
(2021) In Developmental Medicine and Child Neurology 63(3). p.252-258- Abstract
Paediatric movement disorders (PMDs) comprise a large group of disorders (tics, myoclonus, tremor, dystonia, chorea, Parkinsonism, ataxia), often with mixed phenotypes. Determination of the underlying aetiology can be difficult given the broad differential diagnosis and the complexity of the genotype–phenotype relationships. This can make the diagnostic process time-consuming and difficult. In this overview, we present a diagnostic approach for PMDs, with emphasis on genetic causes. This approach can serve as a framework to lead the clinician through the diagnostic process in eight consecutive steps, including recognition of the different movement disorders, identification of a clinical syndrome, consideration of acquired causes,... (More)
Paediatric movement disorders (PMDs) comprise a large group of disorders (tics, myoclonus, tremor, dystonia, chorea, Parkinsonism, ataxia), often with mixed phenotypes. Determination of the underlying aetiology can be difficult given the broad differential diagnosis and the complexity of the genotype–phenotype relationships. This can make the diagnostic process time-consuming and difficult. In this overview, we present a diagnostic approach for PMDs, with emphasis on genetic causes. This approach can serve as a framework to lead the clinician through the diagnostic process in eight consecutive steps, including recognition of the different movement disorders, identification of a clinical syndrome, consideration of acquired causes, genetic testing including next-generation sequencing, post-sequencing phenotyping, and interpretation of test results. The aim of this approach is to increase the recognition and diagnostic yield in PMDs. What this paper adds: An up-to-date description and diagnostic framework for testing of paediatric movement disorders is presented. The framework helps to determine which patients will benefit from next-generation sequencing.
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- author
- Brandsma, Rick ; van Egmond, Martje E. ; Tijssen, Marina A.J. ; Eggink, H. ; Gelauff, J. M. ; Koens, L. H. ; Sival, D. A. ; van der Stouwe, A. M.M. ; van der Veen, S. and Zutt, R.
- contributor
- de Koning, T. J. LU
- author collaboration
- organization
- publishing date
- 2021-03
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Developmental Medicine and Child Neurology
- volume
- 63
- issue
- 3
- pages
- 7 pages
- publisher
- Wiley-Blackwell
- external identifiers
-
- pmid:33150968
- scopus:85102088868
- ISSN
- 0012-1622
- DOI
- 10.1111/dmcn.14721
- language
- English
- LU publication?
- yes
- additional info
- Funding Information: The members of the Groningen Movement Disorders Expertise Centre are as follows: H Eggink, J M Gelauff, L H Koens (all University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, the Netherlands) T J de Koning (University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, the Netherlands and Pediatrics, Department of Clinical Sciences, Lund University, Sweden), D A Sival, A M M van der Stouwe, S van der Veen (all University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, the Netherlands), and R Zutt (Haga Teaching Hospital, Department of Neurology, The Hague, the Netherlands). The authors have stated that they had no interests that might be perceived as posing a conflict or bias. Two (or more) of the/several author(s) of this publication is/are (a) member(s) of the European Reference Network for Rare Neurological Diseases - Project ID No 739510. Publisher Copyright: © 2020 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press Copyright: Copyright 2021 Elsevier B.V., All rights reserved.
- id
- a6cdc444-e5cb-4e91-a073-c82fee25a3fb
- date added to LUP
- 2021-04-19 15:57:24
- date last changed
- 2025-03-09 11:48:41
@article{a6cdc444-e5cb-4e91-a073-c82fee25a3fb,
abstract = {{<p>Paediatric movement disorders (PMDs) comprise a large group of disorders (tics, myoclonus, tremor, dystonia, chorea, Parkinsonism, ataxia), often with mixed phenotypes. Determination of the underlying aetiology can be difficult given the broad differential diagnosis and the complexity of the genotype–phenotype relationships. This can make the diagnostic process time-consuming and difficult. In this overview, we present a diagnostic approach for PMDs, with emphasis on genetic causes. This approach can serve as a framework to lead the clinician through the diagnostic process in eight consecutive steps, including recognition of the different movement disorders, identification of a clinical syndrome, consideration of acquired causes, genetic testing including next-generation sequencing, post-sequencing phenotyping, and interpretation of test results. The aim of this approach is to increase the recognition and diagnostic yield in PMDs. What this paper adds: An up-to-date description and diagnostic framework for testing of paediatric movement disorders is presented. The framework helps to determine which patients will benefit from next-generation sequencing.</p>}},
author = {{Brandsma, Rick and van Egmond, Martje E. and Tijssen, Marina A.J. and Eggink, H. and Gelauff, J. M. and Koens, L. H. and Sival, D. A. and van der Stouwe, A. M.M. and van der Veen, S. and Zutt, R.}},
issn = {{0012-1622}},
language = {{eng}},
number = {{3}},
pages = {{252--258}},
publisher = {{Wiley-Blackwell}},
series = {{Developmental Medicine and Child Neurology}},
title = {{Diagnostic approach to paediatric movement disorders : a clinical practice guide}},
url = {{http://dx.doi.org/10.1111/dmcn.14721}},
doi = {{10.1111/dmcn.14721}},
volume = {{63}},
year = {{2021}},
}