A national study by University of Adelaide researchers is paving the way for more precise diagnosis and treatment for children with cerebral palsy.
The brain imaging and genomic data of more than 300 children with cerebral palsy was analysed by an international team, featuring researchers from the University's Adelaide Medical School and Robinson Research Institute.
The findings, published in the journal eBioMedicine, showed that magnetic resonance imaging (MRI) scans of brain patterns can help predict the likelihood of finding an underlying genetic cause in children with cerebral palsy.
Lead author Dr Jesia Berry said MRI findings reflect the complex interplay between environmental and genetic factors in early brain development.
"Injury patterns revealed in MRI scans are often attributed to environmental factors during pregnancy or complications around the time of birth, such as growth restriction, prematurity, or maternal infection," Dr Berry said.
"The most common brain findings were patterns suggesting injury involving white matter (50 per cent of children), which is involved in transmitting message between different grey matter areas to other parts of the body, followed by grey matter (21 per cent), which is involved in thinking, learning and sensation.
"Less frequent were patterns suggesting abnormal brain development (10 per cent), other uncommon findings sometimes linked to infection, tumour, or possible genetic causes (10 per cent), as well as normal MRI scans (eight per cent).
"In contrast, MRI patterns showing no clear signs of injury acquired before or around birth, or normal scans, are thought to be more likely to have a genetic basis."
Senior author and Research Fellow Dr Clare van Eyk from Adelaide Medical School and Robinson Research Institute, said while MRI can help guide decisions about when to pursue genetic testing, no brain pattern can rule out a genetic cause.
"We found that genetic diagnoses were identified in 24 per cent of children overall," says Dr van Eyk.
"Among those without signs of injury on MRI, 39 to 48 per cent had an underlying genetic cause, which is two to three times higher than for those with an injury pattern.
"Yet, genetic causes were seen across all MRI patterns, including in 17 per cent of children with a brain injury pattern."
Professor Jozef Gecz, Professor of Human Genetics at the University of Adelaide, said the findings highlight how imaging and genomics together can improve precision medicine for children with cerebral palsy.
"Cerebral palsy isn't a single condition with a single cause," says Professor Gecz.
"It can arise from genetic, environmental, or combined factors that interfere with early brain development.
"Combining MRI and genomic testing helps us untangle these causes and personalise care.
"When health resources are limited, MRI can help guide decisions about who to test first, while recognising that genetic causes also occur across all MRI patterns.
"Ultimately, we want every child with cerebral palsy to have access to genetic testing."
