Genetic investigations in cerebral palsy

Abstract

Genomic testing has revolutionized personalized medicine by offering tailored diagnostics and treatments based on individual genetic information. It is widely used in pediatric neurology, particularly for early-onset epilepsy, to identify genetic causes and optimize therapies. However, its use in cerebral palsy (CP) has been limited, despite growing evidence of a genetic basis in many instances.

This review explores the potential role of genomic testing in children with CP, emphasizing its benefits in refining diagnoses and personalizing care. While CP has traditionally been thought to result solely from brain injuries, this review highlights the impact of genomic insights on understanding CP. Notably, studies have found that a significant proportion of people with CP may have a single gene mutation that could explain the condition. We highlight the Wnt signalling pathway, which is associated both with neonatal while matter injuries and genetic forms of CP.

The advantages of genomic testing include more precise diagnostic outcomes, better-informed treatment plans, and a clearer understanding of the associated risk factors and co-occurring conditions. However, challenges remain, such as ensuring accurate clinical assessment, interpreting complex genetic data, and addressing ethical concerns when attributing a specific genetic cause to an existing diagnosis of CP.