14% of Cerebral Palsy Cases Traced to Genetic Mutations in Recent Study

14% of Cerebral Palsy Cases Traced to Genetic Mutations in Recent Study

An Australian-led research group believes it may have made one of the most significant discoveries into cerebral palsy over the past 20 years.

Cerebral palsy in newborns is often assumed to result from severe hypoxia that occurred either during fetal development or at birth. However, the Australian Collaborative Cerebral Palsy Research Group at the University of Adelaide’s Robinson Research Institute has found that at least 14 percent of cerebral palsy cases are likely caused by genetic mutations. The findings, reported in “Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy,” were published in the Nature journal, Molecular Psychiatry.

Professor Alastair MacLennan says that prior to these findings, only about 1 percent of cerebral palsy cases were believed to have had genetic causes. “Cerebral palsy is a major neurodevelopmental disorder, which disrupts movement control, and it occurs in 1 in 400 children,” Professor MacLennan said in a press release.

“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 added.

Professor Jozef Gecz, a genetic scientist also from University of Adelaide, said that significant changes should be made in current approaches to the disorder’s diagnosis, management, and treatment due to its partly genetic origin. And, he added, the group’s findings of genetic diversity in cerebral palsy are very similar to the genetic architecture of other neurological disorders, such as intellectual disabilities, epilepsies, autisms, and schizophrenias. The research might also contribute to early diagnosis of some cerebral palsies and — in the near future — aid with preventative genetic techniques that may reduce inappropriate litigation against obstetric doctors, who are often blamed for causing the condition. Fear of litigation has led to defensive obstetric approaches, and unnecessarily high cesarean delivery rates.

The University of Adelaide-based research group, aided by scientists across Australia and in Texas, has placed this work in a DNA and clinical data cerebral palsy biobank. The work, the result of 20 years of research, is already attracting international interest and will likely spur further research collaborations. The team is continuing to investigate mutations in cerebral palsy.