A phenotypic paradigm for cerebral palsy genetics.

Pathogenic variants in 15.8% of children with cerebral palsy are linked to 60 genes, with only 16 showing strong evidence of causality, highlighting genetic heterogeneity.

• Why it matters: Understanding the genetic basis of cerebral palsy is crucial for accurate diagnosis and personalized treatment, but current models lack clarity on genetic contributions and causality.
• What they did: A statistical framework was developed to treat CP as a phenotypic outcome influenced by genetic disorders, analyzing 515 genes and applying genome sequencing to 460 affected children.
• The result: Findings reveal that only a subset of genes are strongly associated with CP, supporting a stratified, precision medicine approach to genetic diagnosis and management in CP patients.