Local researchers are changing the way cerebral palsy is diagnosed, after discovering up to one third of cerebral palsy cases have a genetic link.
Currently, cerebral palsy is only diagnosed through the observation of signs and symptoms and does not consider aetiology (cause) or pathology.
However, new research from Dr Clare van Eyk from the University of Adelaide has discovered up to one third of cerebral palsy cases have an underlying genetic aetiology (cause) – findings that pave the way for earlier diagnosis and improved management for children and their families.
The work has been proudly funded by The Hospital Research Foundation Group and recently published in Nature Reviews Neurology journal.
“Diagnostic practice has not evolved with the fast-accumulating evidence that links genetics to cerebral palsy,” Dr van Eyk said.
“Our research has been focused on the current state of genomic testing in cerebral palsy, highlighting the importance of considering aetiology (cause) during diagnosis and the benefits this brings for personalised medicine.
“Around one-third of cases have now been shown to have an underlying genetic aetiology (cause), plus we have found a high degree of genetic overlap with neurodevelopmental disorders such as intellectual disability, epilepsy and autism.
“With this knowledge, we hope comprehensive and early genomic testing can be a crucial component of routine diagnosis for families.”
Dr van Eyk’s findings have also led to the researcher being awarded a Mid Career Research Publication Award through Healthy Development Adelaide.
“Most important to me though is the journey of families and ensuring they get access to the best care and support available,” she said.
“We know that early intervention makes a big difference. An aetiology-driven diagnosis will help bring tangible benefits to families through precision medicine, improved clinical management and personalised treatment plans.
“Thank you to The Hospital Research Foundation Group and your supporters for backing my research over many years.”
