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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...

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Autores principales: 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
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
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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.
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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
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