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Diagnostic approach...
Diagnostic approach to paediatric movement disorders : a clinical practice guide
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- Brandsma, Rick (author)
- University Medical Center Utrecht
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- van Egmond, Martje E. (author)
- University of Groningen
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- Tijssen, Marina A.J. (author)
- University of Groningen
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- Eggink, H. (author)
- University Medical Center Groningen
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- Gelauff, J. M. (author)
- University Medical Center Groningen
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- Koens, L. H. (author)
- University Medical Center Groningen
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- Sival, D. A. (author)
- University Medical Center Groningen
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- van der Stouwe, A. M.M. (author)
- University Medical Center Groningen
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- van der Veen, S. (author)
- University Medical Center Groningen
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- Zutt, R. (author)
- Haga Teaching Hospital
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- de Koning, T. J. (creator_code:cre_t)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,University of Groningen
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(creator_code:org_t)
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- 2020-11-05
- 2021
- English 7 s.
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In: Developmental Medicine and Child Neurology. - : Wiley. - 0012-1622 .- 1469-8749. ; 63:3, s. 252-258
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Abstract
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Immunologi inom det medicinska området (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Immunology in the medical area (hsv//eng)
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- art (subject category)
- ref (subject category)
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- By the author/editor
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Brandsma, Rick
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van Egmond, Mart ...
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Tijssen, Marina ...
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Eggink, H.
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Gelauff, J. M.
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Koens, L. H.
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show more...
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Sival, D. A.
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van der Stouwe, ...
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van der Veen, S.
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Zutt, R.
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de Koning, T. J.
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Immunology in th ...
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Developmental Me ...
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Lund University