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Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy

Authors :
Manju A. Kurian
David J. Amor
Sarah McIntyre
Jozef Gecz
Clare L. van Eyk
Andres Moreno-De-Luca
Michael C Fahey
Gareth Baynam
Richard F. Wintle
Hayley Smithers-Sheedy
Bo Jacobsson
Carlos Santos Ocaña
Alastair H. MacLennan
Carina Mallard
Peter J. Rosenbaum
Michael C. Kruer
Changlian Zhu
Kate Himmelmann
Darcy Fehlings
Mikko Hallman
Yana Wilson
Hilla Ben-Pazi
Mark A. Corbett
Luis A. Pérez-Jurado
Nadia Badawi
Sara A. Lewis
Xiaoyang Wang
Richard J. Leventer
Source :
Digital.CSIC. Repositorio Institucional del CSIC, instname, Journal of Child Neurology
Publication Year :
2019
Publisher :
SAGE Publications, 2019.

Abstract

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.

Details

ISSN :
17088283 and 08830738
Volume :
34
Database :
OpenAIRE
Journal :
Journal of Child Neurology
Accession number :
edsair.doi.dedup.....754482e5a4aa25f7dec397332045a114
Full Text :
https://doi.org/10.1177/0883073819840449