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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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