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

Journal article
Authors Alastair H MacLennan
Sara Lewis
Andres Moreno-De-Luca
Michael Fahey
Richard J Leventer
Sarah McIntyre
Hilla Ben-Pazi
Mark Corbett
Xiaoyang Wang
Gareth Baynam
Darcy Fehlings
Manju A Kurian
Changlian Zhu
Kate Himmelmann
Hayley Smithers-Sheedy
Yana Wilson
Carlos Santos Ocaña
Clare van Eyk
Nadia Badawi
Richard F Wintle
Bo Jacobsson
David J Amor
Carina Mallard
Luis A Pérez-Jurado
Mikko Hallman
Peter J Rosenbaum
Michael C Kruer
Jozef Gecz
Published in Journal of child neurology
Volume 38
Issue 4
Pages 472-6
ISSN 1708-8283
Publication year 2019
Published at Institute of Neuroscience and Physiology
Institute of Clinical Sciences, Department of Pediatrics
Institute of Clinical Sciences, Department of Obstetrics and Gynecology
Pages 472-6
Language en
Subject categories Obstetrics and gynaecology


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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