‘Significant Portion’ Of Cerebral Palsy Cases Genetic, Study Suggests
Long thought to be associated with problems at birth, new research indicates that a substantial number of cerebral palsy cases may be genetically based.
A study funded by the National Institutes of Health finds that about 14 percent of cerebral palsy cases may be linked to genetics. The findings published late last month in the journal Nature Genetics come from the largest genetic study of cerebral palsy ever.
“Our results provide the strongest evidence to date that a significant portion of cerebral palsy cases can be linked to rare genetic mutations, and in doing so identified several key genetic pathways involved,” said Michael Kruer, a neurogeneticist at Phoenix Children’s Hospital and the University of Arizona College of Medicine – Phoenix and a senior author of the article. “We hope this will give patients living with cerebral palsy and their loved ones a better understanding of the disorder and doctors a clearer roadmap for diagnosing and treating them.”
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Researchers looked for de novo, or spontaneous, mutations in the genes of 250 people with cerebral palsy from the U.S., China and Australia and their parents using whole exome sequencing.
Ultimately, 11.9% of cerebral palsy cases among those studied could be attributed to randomly occurring mutations, the study found. Another 2% were related to genes inherited from parents without cerebral palsy.
Many of the genes involved were those important to brain wiring at the early stages of development and several have been linked to intellectual disability, epilepsy and autism.
“We hope this study can help give peace of mind to parents who may have been told over the years that there must have been some kind of problem during the pregnancy or delivery to cause their child to have cerebral palsy,” Kruer said. “Our study has implications for genetic counseling for parents who have a child with cerebral palsy, in helping determine the chances of a second child being similarly affected.”
What’s more, the researchers said their findings could also potentially inform treatment for those with cerebral palsy, which affects about 1 in 323 children in the U.S.
“Our genetic understanding of cerebral palsy is still in its earliest phase — we’ve just scratched the surface with this study,” said Sheng Chih Jin, an assistant professor of genetics at Washington University and an author of the paper. “We look forward to continuing this research to better understand what causes cerebral palsy so we can find ways to prevent or treat it.”