New evidence shows that at least 14% of cerebral palsy cases are likely caused by a genetic mutation, contrary to the widely accepted belief that lack of oxygen during pregnancy and birth causes the debilitating childhood disease.
Researchers from the Australian Collaborative Cerebral Palsy Research Group, based at the University of Adelaide's Robinson Research Institute in South Australia, used whole exome sequencing of families with cerebral palsy to show that genetic mutations are a likely cause behind a good number of cases. The discovery will have implications for diagnosis, management, and treatment of the disease.
The researchers identified and validated 61 de novo protein-altering variants in 43 out of 98 (44%) case-parent trios. “Ten de novo mutations in three previously identified disease genes (TUBA1A (n=2), SCN8A (n=1) and KDM5C (n=1)) and in six novel candidate CP genes (AGAP1, JHDM1D, MAST1, NAA35, RFX2 and WIPI2) were predicted to be potentially pathogenic for CP,” the researchers wrote.
The discovery is the result of 20 years of research by the group, which has amassed a DNA and clinical data cerebral palsy biobank that will aid in future research collaborations.
Notably, the researchers also said that the findings have implications for malpractice lawsuits, as obstetricians are often blamed for causing the condition. The elevated rate of litigation related to cerebral palsy has led to more widespread practice of defensive medicine in obstetrics and an alarmingly high rate of caesarean deliveries.
New research findings on the genetic causes of cerebral palsy has far reaching implications for the treatment of the most frequent cause of physical disability in childhood.
It has long been the belief that cerebral palsy occurs when a child experiences a lack of oxygen during pregnancy or at birth. However, the Australian Collaborative Cerebral Palsy Research Group, based at the University of Adelaide’s Robinson Research Institute in South Australia, has found at least 14 percent of cerebral palsy cases are likely caused by a genetic mutation.
The international research group says this could be the biggest discovery into cerebral palsy in 20 years.