A new artificial intelligence tool that can detect tiny brain lesions that cause epilepsy in children could help speed up diagnoses, paving the way for a potential cure, experts revealed.
Researchers from the Murdoch Children’s Research Institute and The Royal Children’s Hospital, have developed an ‘AI epilepsy detective’ which can find brain lesions as small as a blueberry, in up to 94 per cent of cases.
As well as causing severe seizures, caused by bursts of uncontrolled electrical activity in the brain, which prevents nerve cells from signalling to each other properly—in rare cases the condition can also cause brain damage, and even sudden death.
Dr Emma Macdonald-Laurs, a neurologist at The Royal Children’s Hospital, and study lead said more accurate diagnosis of these lesions—called cortical dysplasias—could lead to faster referrals for surgery, fewer seizures and improved prognosis.
‘Identifying the cause early lets us tailor treatment options and helps neurosurgeons plan and navigate surgery,’ she said.
‘With more accurate imaging, neurosurgeons can develop a safer surgical roadmap to avoid important blood vessels and brain regions that control speech, thinking and movement and removing healthy brain tissue.
‘Children also avoid the need to have to undergo invasive testing,’ she added.
Published in the journal Epilepsia, the study involved 71 children at the Royal Children’s Hospital and 23 adults at the Austin Hospital with cortical dysplasia and focal epilepsy—which causes recurring seizures.
Without the use of the new tool, a concerning 80 per cent of patients had their epilepsy missed by human examination of their MRI results.
But, after training an AI detective with MRI and PET scans, doctors were able to identify up to 94 per cent of cases.
Of the 17 children involved in the test group, 12 underwent surgery and 11 are now seizure free.
‘Over time, frequent seizures impact on a child’s behaviour, mood and ability to learn,’ Dr Macdonald-Laurs explained.
‘Epilepsy due to cortical dysplasia can, however, be improved or cured with epilepsy surgery if the abnormal brain tissue can be located and removed.’
However, the researchers highlighted that these brain lesions have previously been extremely hard to spot on routine MRIs, with less than half being detected on a child’s first scan.
She added: ‘Failure to locate the abnormal tissue slows the pathway to a definitive diagnosis and may stop a child being referred for potentially curative epilepsy surgery.
‘The longer a child continues to have uncontrolled seizures, the more likely they are to develop learning difficulties, including intellectual disability.’
The researchers now hope with with additional funding they will be able to test the detector in paediatric hospitals across Australia, enabling better diagnosis and a potential cure for children suffering from the debilitating condition.
Five-year-old Royal was one of the children who underwent surgery after scans aided by the detector revealed lesions on his brain.
Now, his mum, Gurjinder, says he is seizure free and back to his ‘calm, friendly, and patient’ self.
‘The seizures started to become increasingly frequent, from a couple a day to one every half an hour, until they started to appear in clusters,’ she said.
‘The worse being 19 seizures within just two hours. Every time Royal’s whole body would freeze for at least a minute and as the days went on he lost his appetite too.’
After a severe seizure saw Royal hospitalised, he underwent a number of scans to try and find the cause of his fits, but to no avail.
It wasn’t until he was transferred to the Royal Children’s Hospital, where the tool was being trialled, that the cortical dysplasia was detected and removed.
His mother said: ‘We were so lucky that we quickly picked up that something was wrong because young children can’t always explain what they are going through.
‘Without the assistance of the detector, it would have taken so much longer to achieve a diagnosis and Royal’s health would have continued to deteriorate.’
Around one in every 200 children are thought to suffer with the debilitating condition.
Cortical dysplasias, which develop when a baby is still in utero, are a common cause of drug resistant seizures, which Dr Mcdonald-Laurs said usually start ‘out of the blue’ during early school years before escalating to multiple times a day.
In this case, surgery is usually needed—to remove a small part of the brain that’s causing the attack, or to implant a tiny device that interrupts the chaotic signals between nerve cells.
Around one in 100 people, or 630,000 in the UK, have epilepsy.
