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.
The Head of the Cerebral Palsy Research Group, Emeritus Professor Alastair MacLennan, says prior to this research it was believed that as little as 1 percent 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 that genetic mutations are the likely cause of the condition in at least 14 percent 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.”
Gecz says that the genetic finding 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.
University of Adelaide PhD student and lead author, Gai McMichael, who was supervised by Professors MacLennan and Gecz, says this research finding will change how people think about cerebral palsy.
“These results will make many rethink assumptions about the causes of cerebral palsy, which can be devastating for all concerned and costs Australia billions of dollars each year,” says McMichael.
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 Nature journal, Molecular Psychiatry.
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy, G McMichael, M N Bainbridge, E Haan, M Corbett, A Gardner, S Thompson, B W M van Bon, C L van Eyk, J Broadbent, C Reynolds, M E O’Callaghan, L S Nguyen, D L Adelson, R Russo, S Jhangiani, H Doddapaneni, D M Muzny, R A Gibbs, J Gecz and A H MacLennan, Molecular Psychiatry, doi:10.1038/mp.2014.189, published 10 February 2015.
Source: The Lead South Australia