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20th September 2021 Latest News Neurodevelopmental Disorders

Genetics behind a quarter of cerebral palsy cases

Dr Clare van Eyk

At least a quarter of children with cerebral palsy have a clinically-important genetic link, and 50% of these will have immediate implications for their care – a new study has found thanks to the support of our donors!

University of Adelaide researchers showed, for the first time, that in a randomly selected group of children with cerebral palsy, at least 25% of them are likely to have an associated genetic cause, and half of these children (1/8 of all children with cerebral palsy) will have a finding which could be benefitted by tailored care. This is the first step to implementing personalised medicine in cerebral palsy.

The study, published today in Nature Publishing Group journal Genomic Medicine, also found that there was no difference in the rate of genetic diagnoses in children who had other risk factors which were considered to be the cause of their cerebral palsy including prematurity, stroke in utero, or growth restriction.

Lead author Dr Clare van Eyk, a Hospital Research Foundation Fellow at the University of Adelaide, said the findings were the first step to implementing personalised medicine in cerebral palsy.

“Right now, a diagnosis of cerebral palsy alone does not qualify a child for Medicare-funded genomic testing,’’ she said.

“This means that many children are missing out on a genomic diagnosis.”

Cerebral palsy has prevalence of about 1/700 in Australia – about 450 children per year are born with cerebral palsy in Australia.

“We know that early intervention makes a big difference to outcomes for children with cerebral palsy. Providing a precise diagnosis of the cause of a child’s cerebral palsy enables doctors to develop a personalised treatment plan,’’ Dr van Eyk said.

“We believe that every child with cerebral palsy should be given the opportunity to have Medicare-funded genomic testing. This can be of immediate value to some families, providing them with valuable information to support them in making decisions about the best care pathways for their child. In addition, by improving our understanding of the varying genetic and non-genetic causes of cerebral palsy, we can encourage investment into developing better treatments and prevention strategies for cerebral palsy.

“I appreciate the support of the Hospital Research Foundation, which was integral to this work being completed.”

Senior author Professor Jozef Gecz said that it is clear that “cerebral palsy is at least partly genetic and, from that perspective, no different to intellectual disabilities, epilepsies, autisms or childhood cancers for that matter. Our research demonstrates that individuals with cerebral palsy should have routine equitable access to genomic testing.”