Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology

Clare L. van Eyk, Michael C. Fahey, Jozef Gecz

    Research output: Contribution to journalReview articlepeer-review

    30 Citations (Scopus)

    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 benefits 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.

    Original languageEnglish
    Pages (from-to)542-555
    Number of pages14
    JournalNature Reviews Neurology
    Volume19
    Issue number9
    DOIs
    Publication statusPublished or Issued - Sept 2023

    ASJC Scopus subject areas

    • Clinical Neurology
    • Cellular and Molecular Neuroscience

    Cite this