Adelaide Researchers Make Major Cerebral Palsy Discovery

The long-held belief that cerebral palsy occurs when a child experiences a lack of oxygen during birth or pregnancy has been thrown by new research which shows it could be in the genes.
This new research by the University of Adelaide's Australian Collaborative Cerebral Palsy Research Group has been hailed as the biggest discovery into cerebral palsy in the past 20 years has found at least 14 per cent of cerebral palsy cases are likely to be caused by a genetic mutation. Head of the Cerebral Palsy Research Group, Emeritus Professor Alastair MacLennan, says prior to this research it was believed that as little as one per cent of cerebral palsy cases had a genetic cause.
“Cerebral palsy is a major neurodevelopmental disorder, which disrupts movement control, and it occurs in 1 in 400 children,” Emeritus Professor MacLennan says.
“While we have long suspected that genes may play a role in the development of cerebral palsy, it wasn’t until our research group mapped the DNA from cerebral palsy families that we could show genetic mutations are the likely cause of the condition in at least 14% of cases,” he says.
Professor Jozef Gecz, University of Adelaide genetic scientist, says because cerebral palsy is at least partly genetic in origin there will be significant changes in the approach to diagnosis, management and treatment of the condition.
“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,” Professor Gecz says.
“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 todefensive obstetrics and unnecessarily high caesarean delivery rates,” he says.
University of Adelaide PhD student and lead author, Gai McMichael, says the published results will make many rethink assumptions about the causes of cerebral palsy.
With the help of collaborators around Australia and in Houston, Texas, and with funding from the National Health and Medical Research Council and the Cerebral Palsy and Tenix Foundations, the University of Adelaide-based research group has gathered a unique DNA and clinical data cerebral palsy biobank, which is attracting international attention and further research collaboration.
This work has been the result of 20 years of research by the group. The team is continuing to seek further mutations in cerebral palsy cases, which will add to the percentage of cases with a genetic basis.
The findings of this research are published in the prestigious Nature journal, Molecular Psychiatry