Canadian study identifies genetic link to cause of cerebral palsy

In Canada, three in every 1,000 children are diagnosed with cerebral palsy (CP) each year. Signs and symptoms range – while some children are mildly affected, others can experience challenges in motor development or muscle control, or may be unable to walk or communicate. A Canadian study published in Genetics in Medicine has identified a genetic link that may explain how CP develops in utero. Click here to read the cerebral palsy genetic study.

CP is the most common cause of physical disability in children, and considered to be caused by factors such as birth asphyxia, stroke, and infection in a child’s developing brain. However, new groundbreaking evidence suggests a much stronger underlying genetic link in children with hemiplegic CP – the most common type of CP – than previously thought. This research was led by scientists at Holland Bloorview Kids Rehabilitation Hospital and The Hospital for Sick Children, and funded by CP-NET Integrated Discovery Program of the Ontario Brain Institute. The research was a collaborative effort involving clinicians and scientists across numerous Ontario institutions working with individuals with CP and their families.

© Bernard Weil/Toronto Star

We’re getting closer to understanding the complex biology of CP and the potential ‘brain development’ genes that impact a child’s risk of developing it, including the importance of considering genetic testing for kids and youth with symptoms or signs, says Dr. Darcy Fehlings, a Holland Bloorview senior clinician scientist. Findings support a strong genetic link to the cause of hemiplegic CP, which affects 35% of kids with CP. Clinically, this supports the use of genomic testing as part of forming the work-up for a child with hemiplegic CP. In the future, understanding the genetic basis of CP may lead to the development of new treatment approaches.

For families, genetic testing could help explain why CP developed in utero. Holland Bloorview client, Julian, and his mom, Donna, spoke with the Toronto Star on what this study could mean to families like theirs.

Read the Toronto Star article on what the CP Genetic Study could mean to Julian and Donna.