Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/139299
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Type: Journal article
Title: Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology
Author: van Eyk, C.L.
Fahey, M.C.
Gecz, J.
Citation: Nature Reviews Neurology, 2023; 19(9):542-555
Publisher: Springer Nature
Issue Date: 2023
ISSN: 1759-4758
1759-4766
Statement of
Responsibility: 
Clare L. van Eyk, Michael C. Fahey, Jozef Gecz
Abstract: Cerebral palsy is a clinical descriptor covering a diverse group of permanent, non-degenerative disorders of motor function. Around one-third of cases have now been shown to have an underlying genetic aetiology, with the genetic landscape overlapping with those of neurodevelopmental disorders including intellectual disability, epilepsy, speech and language disorders and autism. Here we review the current state of genomic testing in cerebral palsy, highlighting the benefts for personalized medicine and the imperative to consider aetiology during clinical diagnosis. With earlier clinical diagnosis now possible, we emphasize the opportunity for comprehensive and early genomic testing as a crucial component of the routine diagnostic work-up in people with cerebral palsy.
Keywords: Diseases of the nervous system; Neurodevelopmental disorders
Rights: © Springer Nature Limited 2023
DOI: 10.1038/s41582-023-00847-6
Grant ID: http://purl.org/au-research/grants/nhmrc/1155224
Published version: http://dx.doi.org/10.1038/s41582-023-00847-6
Appears in Collections:Medicine publications

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