Related Experiment Video
Updated: Dec 2, 2025
Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Diagnostic approach to paediatric movement disorders: a clinical practice guide
Rick Brandsma1, Martje E van Egmond2, Marina A J Tijssen2
1Department of Pediatric Neurology, University Medical Center Utrecht, Utrecht, the Netherlands.
Insights
Diagnosing paediatric movement disorders (PMDs) is challenging due to complex causes. This paper offers an eight-step diagnostic framework, emphasizing genetic testing, to improve recognition and diagnostic yield for these conditions.
Area of Science:
- Neurology
- Genetics
- Paediatrics
Background:
- Paediatric movement disorders (PMDs) encompass a diverse range of conditions with often overlapping symptoms.
- Identifying the specific aetiology of PMDs is frequently complicated by broad differential diagnoses and intricate genotype-phenotype correlations.
- The diagnostic journey for PMDs can be protracted and challenging for clinicians.
Purpose of the Study:
- To present a structured, eight-step diagnostic approach for paediatric movement disorders.
- To emphasize the role of genetic causes and advanced genetic testing in diagnosing PMDs.
- To enhance the recognition and diagnostic success rate for paediatric movement disorders.
Main Methods:
- A systematic, eight-step diagnostic framework is proposed for clinicians.
- The approach integrates clinical assessment, syndrome identification, and consideration of acquired causes.
- Key components include genetic testing strategies, such as next-generation sequencing, and subsequent phenotyping and result interpretation.
Main Results:
- The presented framework provides a clear pathway for diagnosing paediatric movement disorders.
- It guides clinicians in determining the most appropriate diagnostic tests, including next-generation sequencing.
- The approach aims to streamline the diagnostic process and improve overall diagnostic yield.
Conclusions:
- This paper offers an updated description and a practical diagnostic framework for paediatric movement disorders.
- The proposed framework assists in identifying patients who would benefit from next-generation sequencing.
- Implementing this structured approach can lead to more efficient and accurate diagnoses of PMDs.
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.
