Earlier detection of cerebral palsy (CP) in children could soon be made possible, with the University of Adelaide receiving more than $2.9 million to develop a better test for the condition.
Professor Jozef Gecz and Dr Clare van Eyk
Currently only half of children who have cerebral palsy receive a clinical diagnosis in their first year of life, but researchers involved in this collaborative project are hoping to change that by using state-of-the-art genomic technology to provide more accurate and earlier diagnoses.
“At least one in three people have genetic origin of their cerebral palsy. The aim of this national effort is to define early, robust and accessible genomic testing pathways to improve health outcomes especially for children in the first years of their life,” said the University of Adelaide’s Professor Jozef Gecz, who is a researcher with the Adelaide Medical School and is leading this study.
“Often misunderstood as complications due to brain injury at or around birth, people with cerebral palsy do not have equitable access to precision health of which genetic diagnosis is a major starting point.”
Five hundred children in Australia with cerebral palsy will undergo genomic testing as part of the project, allowing the team of researchers to refine the clinical criteria used for genomic testing and identify new genetic causes of the condition.
“We believe the outcomes of this project could see up to 70 per cent of children with cerebral palsy diagnosed in their first year of life,” said Professor Gecz.
Cerebral palsy is a disorder of movement or posture that affects motor function.
Every hour a baby is born with cerebral palsy and to date, there is no cure for the condition.
Currently, clinical diagnosis is often made based on signs and symptoms and the condition isn’t usually confirmed until a child is at least four years old.
“The aim of this national effort is to define early, robust and accessible genomic testing pathways to improve health outcomes especially for children in the first years of their life.”University of Adelaide’s Professor Jozef Gecz
“We know from prior studies that there are children within CP cohorts who have conditions which can be reversed with targeted therapy, preventing a lifetime of disability. Early intervention is the key, but we can’t act early if it’s not being diagnosed in an accurate or timely manner,” said the University of Adelaide’s Dr Clare van Eyk, co-lead of the CP team at the Adelaide Medical School, who is also a chief investigator on this study.
This project is close to the heart of this study’s chief investigator Natasha Garrity, who lives with cerebral palsy and is a research assistant at the Cerebral Palsy Research Institute.
“It is wonderful that this technology may lead to an early diagnosis of cerebral palsy. While any intervention reduces the impact of cerebral palsy, the younger the recipient, the less their disability will negatively affect their lives and the lives of their loved ones.”
“I look forward to a time when this genomics technology in combination with current and emerging therapies can reduce the burden of CP to be negligible,” she said.
The $2.9 million in funding has been secured through the Federal Government’s MRFF 2022 Genomics Health Futures Mission Grant and will be delivered over four years.
The MRFF is a $20 billion long-term investment supporting Australian health and medical research. The MRFF aims to transform health and medical research and innovation to improve lives, build the economy and contribute to health system sustainability.
