Diagnostic approach to paediatric movement disorders
| Autor: | Rick, Brandsma, Martje E, van Egmond, Marina A J, Tijssen, R, Zutt |
|---|---|
| Přispěvatelé: | Movement Disorder (MD) |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
030506 rehabilitation
medicine.medical_specialty Movement disorders Adolescent Tics Pediatrics Diagnosis Differential 03 medical and health sciences 0302 clinical medicine Developmental Neuroscience Chorea medicine Humans Child Intensive care medicine Genetic testing Dystonia Movement Disorders Clinical Practice Guide medicine.diagnostic_test business.industry Parkinsonism medicine.disease nervous system diseases Phenotype Pediatrics Perinatology and Child Health Medical genetics Ataxia Neurology (clinical) Differential diagnosis medicine.symptom 0305 other medical science business 030217 neurology & neurosurgery |
| Zdroj: | Developmental Medicine and Child Neurology, 63(3), 252-258. Blackwell Publishing Ltd Developmental Medicine and Child Neurology |
| ISSN: | 1469-8749 0012-1622 |
| Popis: | 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. 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. |
| Databáze: | OpenAIRE |
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