Diagnostic approach to paediatric movement disorders: a clinical practice guide

Research output: Contribution to journalArticle

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, 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.

Details

Authors
  • Rick Brandsma
  • Martje E. van Egmond
  • Marina A.J. Tijssen
  • T. J. de Koning (Contributor)
  • the Groningen Movement Disorder Expertise Centre
Organisations
External organisations
  • University Medical Center Utrecht
  • Haga Teaching Hospital
  • University of Groningen
  • University Medical Center Groningen
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Medical Genetics
  • Immunology in the medical area
Original languageEnglish
Pages (from-to)252-258
Number of pages7
JournalDevelopmental Medicine and Child Neurology
Volume63
Issue number3
Publication statusPublished - 2021 Mar
Publication categoryResearch
Peer-reviewedYes

Bibliographic note

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.