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

Nat Rev Neurol. 2023 Sep;19(9):542-555. doi: 10.1038/s41582-023-00847-6. Epub 2023 Aug 3.

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.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Causality
  • Cerebral Palsy* / diagnosis
  • Cerebral Palsy* / genetics
  • Humans
  • Intellectual Disability*
  • Neurodevelopmental Disorders* / etiology
  • Neurodevelopmental Disorders* / genetics
  • Paralysis / complications