Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology
Date
2023
Authors
van Eyk, C.L.
Fahey, M.C.
Gecz, J.
Editors
Advisors
Journal Title
Journal ISSN
Volume Title
Type:
Journal article
Citation
Nature Reviews Neurology, 2023; 19(9):542-555
Statement of Responsibility
Clare L. van Eyk, Michael C. Fahey, Jozef Gecz
Conference Name
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.
School/Discipline
Dissertation Note
Provenance
Description
Access Status
Rights
© Springer Nature Limited 2023