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The Role of Neuroimaging and Genetic Analysis in the Diagnosis of Children With Cerebral Palsy
Cerebral magnetic resonance imaging (MRI) is considered an important tool in the assessment of a child with cerebral palsy (CP), as it is abnormal in more than 80% of children with CP, disclosing the pathogenic pattern responsible for the neurological condition. MRI, therefore, is recommended as the...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7900404/ https://www.ncbi.nlm.nih.gov/pubmed/33633660 http://dx.doi.org/10.3389/fneur.2020.628075 |
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author | Horber, Veronka Grasshoff, Ute Sellier, Elodie Arnaud, Catherine Krägeloh-Mann, Ingeborg Himmelmann, Kate |
author_facet | Horber, Veronka Grasshoff, Ute Sellier, Elodie Arnaud, Catherine Krägeloh-Mann, Ingeborg Himmelmann, Kate |
author_sort | Horber, Veronka |
collection | PubMed |
description | Cerebral magnetic resonance imaging (MRI) is considered an important tool in the assessment of a child with cerebral palsy (CP), as it is abnormal in more than 80% of children with CP, disclosing the pathogenic pattern responsible for the neurological condition. MRI, therefore, is recommended as the first diagnostic step after medical history taking and neurological examination. With the advances in genetic diagnostics, the genetic contribution to CP is increasingly discussed, and the question arises about the role of genetic testing in the diagnosis of cerebral palsy. The paper gives an overview on genetic findings reported in CP, which are discussed with respect to the underlying brain pathology according to neuroimaging findings. Surveillance of Cerebral Palsy in Europe (SCPE) classifies neuroimaging findings in CP into five categories, which help to stratify decisions concerning genetic testing. Predominant white and gray matter injuries are by far predominant (accounting for around 50 and 20% of the findings). They are considered to be acquired. Here, predisposing genetic factors may play a role to increase vulnerability (and should especially be considered, when family history is positive and/or causative external factors are missing). In maldevelopments and normal findings (around 11% each), monogenic causes are more likely, and thus, genetic testing is clearly recommended. In the miscellaneous category, the precise nature of the MRI finding has to be considered as it could indicate a genetic origin. |
format | Online Article Text |
id | pubmed-7900404 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-79004042021-02-24 The Role of Neuroimaging and Genetic Analysis in the Diagnosis of Children With Cerebral Palsy Horber, Veronka Grasshoff, Ute Sellier, Elodie Arnaud, Catherine Krägeloh-Mann, Ingeborg Himmelmann, Kate Front Neurol Neurology Cerebral magnetic resonance imaging (MRI) is considered an important tool in the assessment of a child with cerebral palsy (CP), as it is abnormal in more than 80% of children with CP, disclosing the pathogenic pattern responsible for the neurological condition. MRI, therefore, is recommended as the first diagnostic step after medical history taking and neurological examination. With the advances in genetic diagnostics, the genetic contribution to CP is increasingly discussed, and the question arises about the role of genetic testing in the diagnosis of cerebral palsy. The paper gives an overview on genetic findings reported in CP, which are discussed with respect to the underlying brain pathology according to neuroimaging findings. Surveillance of Cerebral Palsy in Europe (SCPE) classifies neuroimaging findings in CP into five categories, which help to stratify decisions concerning genetic testing. Predominant white and gray matter injuries are by far predominant (accounting for around 50 and 20% of the findings). They are considered to be acquired. Here, predisposing genetic factors may play a role to increase vulnerability (and should especially be considered, when family history is positive and/or causative external factors are missing). In maldevelopments and normal findings (around 11% each), monogenic causes are more likely, and thus, genetic testing is clearly recommended. In the miscellaneous category, the precise nature of the MRI finding has to be considered as it could indicate a genetic origin. Frontiers Media S.A. 2021-02-09 /pmc/articles/PMC7900404/ /pubmed/33633660 http://dx.doi.org/10.3389/fneur.2020.628075 Text en Copyright © 2021 Horber, Grasshoff, Sellier, Arnaud, Krägeloh-Mann and Himmelmann. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Neurology Horber, Veronka Grasshoff, Ute Sellier, Elodie Arnaud, Catherine Krägeloh-Mann, Ingeborg Himmelmann, Kate The Role of Neuroimaging and Genetic Analysis in the Diagnosis of Children With Cerebral Palsy |
title | The Role of Neuroimaging and Genetic Analysis in the Diagnosis of Children With Cerebral Palsy |
title_full | The Role of Neuroimaging and Genetic Analysis in the Diagnosis of Children With Cerebral Palsy |
title_fullStr | The Role of Neuroimaging and Genetic Analysis in the Diagnosis of Children With Cerebral Palsy |
title_full_unstemmed | The Role of Neuroimaging and Genetic Analysis in the Diagnosis of Children With Cerebral Palsy |
title_short | The Role of Neuroimaging and Genetic Analysis in the Diagnosis of Children With Cerebral Palsy |
title_sort | role of neuroimaging and genetic analysis in the diagnosis of children with cerebral palsy |
topic | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7900404/ https://www.ncbi.nlm.nih.gov/pubmed/33633660 http://dx.doi.org/10.3389/fneur.2020.628075 |
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