5 Key Takeaways

• 1

  Whole genome sequencing identified pathogenic or likely pathogenic variants in 11 of 86 children with cerebral palsy (12.8%) in a UK pilot study.

• 2

  All 11 confirmed genetic diagnoses influenced care or genetic counselling; four led to tailored clinical management and seven to additional specialist care.

• 3

  Examples of care changes included altering antiseizure medication, arranging mitochondrial assessment, and introducing cardiovascular screening.

• 4

  Intellectual disability, dystonia, and abnormalities affecting multiple body systems were associated with a greater likelihood of a genetic diagnosis.

• 5

  The authors support considering WGS in cerebral palsy diagnostic pathways but note that larger prospective studies are needed to assess effectiveness, cost, and patient selection.