Genes May Play Bigger Role In Cerebral Palsy
Once thought to be chiefly related to lack of oxygen at birth, new research suggests that a sizable number of cerebral palsy cases are in fact rooted in genetics.
At least 14 percent of cerebral palsy cases may be caused by genetic mutations, according to findings published online this month in the journal Molecular Psychiatry.
For the study, researchers conducted whole-exome sequencing to analyze the DNA of 183 people with cerebral palsy to look for genetic anomalies believed to be linked to the developmental condition. In most cases, similar testing was also done for the individuals’ parents.
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The scientists found that about 1 in 7 of those with cerebral palsy had a “potentially disease-causing gene variant.”
“Our findings of genetic diversity in cerebral palsy are similar to the genetic architecture of other neurological disabilities, such as intellectual disabilities, epilepsies, autisms and schizophrenias,” said Jozef Gecz of the The University of Adelaide in Australia who worked on the study. “Our research will lead to early diagnosis of some cerebral palsies and aid preventative genetic techniques in the future. It should also reduce inappropriate litigation against obstetric medics — who at times are blamed for causing the condition — which has led to defensive obstetrics and unnecessarily high caesarean delivery rates.”
The study adds to a growing body of evidence linking at least some instances of cerebral palsy to a person’s genetic makeup. Research published last year looking at more than 2 million children born in Norway found a significantly heightened risk of cerebral palsy in those related to someone with the developmental disability.