Cargando…
Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy
High throughput sequencing is discovering many likely causative genetic variants in individuals with cerebral palsy. Some investigators have suggested that this changes the clinical diagnosis of cerebral palsy and that these individuals should be removed from this diagnostic category. Cerebral palsy...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6582263/ https://www.ncbi.nlm.nih.gov/pubmed/30963790 http://dx.doi.org/10.1177/0883073819840449 |
_version_ | 1783428287213600768 |
---|---|
author | MacLennan, Alastair H. Lewis, Sara Moreno-De-Luca, Andres Fahey, Michael Leventer, Richard J. McIntyre, Sarah Ben-Pazi, Hilla Corbett, Mark Wang, Xiaoyang Baynam, Gareth Fehlings, Darcy Kurian, Manju A. Zhu, Changlian Himmelmann, Kate Smithers-Sheedy, Hayley Wilson, Yana Ocaña, Carlos Santos van Eyk, Clare Badawi, Nadia Wintle, Richard F. Jacobsson, Bo Amor, David J. Mallard, Carina Pérez-Jurado, Luis A. Hallman, Mikko Rosenbaum, Peter J. Kruer, Michael C. Gecz, Jozef |
author_facet | MacLennan, Alastair H. Lewis, Sara Moreno-De-Luca, Andres Fahey, Michael Leventer, Richard J. McIntyre, Sarah Ben-Pazi, Hilla Corbett, Mark Wang, Xiaoyang Baynam, Gareth Fehlings, Darcy Kurian, Manju A. Zhu, Changlian Himmelmann, Kate Smithers-Sheedy, Hayley Wilson, Yana Ocaña, Carlos Santos van Eyk, Clare Badawi, Nadia Wintle, Richard F. Jacobsson, Bo Amor, David J. Mallard, Carina Pérez-Jurado, Luis A. Hallman, Mikko Rosenbaum, Peter J. Kruer, Michael C. Gecz, Jozef |
author_sort | MacLennan, Alastair H. |
collection | PubMed |
description | High throughput sequencing is discovering many likely causative genetic variants in individuals with cerebral palsy. Some investigators have suggested that this changes the clinical diagnosis of cerebral palsy and that these individuals should be removed from this diagnostic category. Cerebral palsy is a neurodevelopmental disorder diagnosed on clinical signs, not etiology. All nonprogressive permanent disorders of movement and posture attributed to disturbances that occurred in the developing fetal and infant brain can be described as “cerebral palsy.” This definition of cerebral palsy should not be changed, whatever the cause. Reasons include stability, utility and accuracy of cerebral palsy registers, direct access to services, financial and social support specifically offered to families with cerebral palsy, and community understanding of the clinical diagnosis. Other neurodevelopmental disorders, for example, epilepsy, have not changed the diagnosis when genomic causes are found. The clinical diagnosis of cerebral palsy should remain, should prompt appropriate genetic studies and can subsequently be subclassified by etiology. |
format | Online Article Text |
id | pubmed-6582263 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-65822632019-07-22 Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy MacLennan, Alastair H. Lewis, Sara Moreno-De-Luca, Andres Fahey, Michael Leventer, Richard J. McIntyre, Sarah Ben-Pazi, Hilla Corbett, Mark Wang, Xiaoyang Baynam, Gareth Fehlings, Darcy Kurian, Manju A. Zhu, Changlian Himmelmann, Kate Smithers-Sheedy, Hayley Wilson, Yana Ocaña, Carlos Santos van Eyk, Clare Badawi, Nadia Wintle, Richard F. Jacobsson, Bo Amor, David J. Mallard, Carina Pérez-Jurado, Luis A. Hallman, Mikko Rosenbaum, Peter J. Kruer, Michael C. Gecz, Jozef J Child Neurol Topical Review Article High throughput sequencing is discovering many likely causative genetic variants in individuals with cerebral palsy. Some investigators have suggested that this changes the clinical diagnosis of cerebral palsy and that these individuals should be removed from this diagnostic category. Cerebral palsy is a neurodevelopmental disorder diagnosed on clinical signs, not etiology. All nonprogressive permanent disorders of movement and posture attributed to disturbances that occurred in the developing fetal and infant brain can be described as “cerebral palsy.” This definition of cerebral palsy should not be changed, whatever the cause. Reasons include stability, utility and accuracy of cerebral palsy registers, direct access to services, financial and social support specifically offered to families with cerebral palsy, and community understanding of the clinical diagnosis. Other neurodevelopmental disorders, for example, epilepsy, have not changed the diagnosis when genomic causes are found. The clinical diagnosis of cerebral palsy should remain, should prompt appropriate genetic studies and can subsequently be subclassified by etiology. SAGE Publications 2019-04-09 2019-07 /pmc/articles/PMC6582263/ /pubmed/30963790 http://dx.doi.org/10.1177/0883073819840449 Text en © The Author(s) 2019 http://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (http://www.creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage). |
spellingShingle | Topical Review Article MacLennan, Alastair H. Lewis, Sara Moreno-De-Luca, Andres Fahey, Michael Leventer, Richard J. McIntyre, Sarah Ben-Pazi, Hilla Corbett, Mark Wang, Xiaoyang Baynam, Gareth Fehlings, Darcy Kurian, Manju A. Zhu, Changlian Himmelmann, Kate Smithers-Sheedy, Hayley Wilson, Yana Ocaña, Carlos Santos van Eyk, Clare Badawi, Nadia Wintle, Richard F. Jacobsson, Bo Amor, David J. Mallard, Carina Pérez-Jurado, Luis A. Hallman, Mikko Rosenbaum, Peter J. Kruer, Michael C. Gecz, Jozef Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy |
title | Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy |
title_full | Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy |
title_fullStr | Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy |
title_full_unstemmed | Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy |
title_short | Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy |
title_sort | genetic or other causation should not change the clinical diagnosis of cerebral palsy |
topic | Topical Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6582263/ https://www.ncbi.nlm.nih.gov/pubmed/30963790 http://dx.doi.org/10.1177/0883073819840449 |
work_keys_str_mv | AT maclennanalastairh geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT lewissara geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT morenodelucaandres geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT faheymichael geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT leventerrichardj geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT mcintyresarah geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT benpazihilla geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT corbettmark geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT wangxiaoyang geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT baynamgareth geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT fehlingsdarcy geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT kurianmanjua geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT zhuchanglian geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT himmelmannkate geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT smitherssheedyhayley geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT wilsonyana geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT ocanacarlossantos geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT vaneykclare geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT badawinadia geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT wintlerichardf geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT jacobssonbo geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT amordavidj geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT mallardcarina geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT perezjuradoluisa geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT hallmanmikko geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT rosenbaumpeterj geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT kruermichaelc geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy AT geczjozef geneticorothercausationshouldnotchangetheclinicaldiagnosisofcerebralpalsy |