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The seven-year study, published in the journal Nature Genetics and led by scientists at The Hospital for Sick Children (SickKids), the Research Institute of the McGill University Health Centre (RI-MUHC), and Holland Bloorview Kids Rehabilitation Hospital, suggests the existence of many genetic variants contributing to cerebral palsy.
The childhood-onset physical disability can have different causes, such as infections, injuries, or lack of oxygen before or during birth.
However, the genetic contributors to the condition were not known yet.
For 100 years, cerebral palsy was mostly thought to be the result of entirely environmental factors during birth.
“Now that we have a better understanding of the complex relationship between cerebral palsy’s genetic and environmental factors, we hope we can improve care for these children,” said Dr Stephen Scherer, Chief of Research and Senior Scientist at SickKids.
For the research, the team conducted whole-genome sequencing in 327 children with cerebral palsy, including their biological parents. They found that more than one in 10 children had a genetic variant or likely genetic variant for cerebral palsy, and 17.7 percent of children had variants of uncertain significance that may be linked with the condition after further research.
“Our findings are a step forward in better understanding the complex genetic and environmental risk factors that may determine an individual’s chance of developing this complex condition to help individualise future treatment,” said Dr. Maryam Oskoui, senior clinician scientist at the Research Institute of the McGill University Health Centre.
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