Advanced AI tool detects tiny brain lesions in children with epilepsy

An advanced AI tool can detect tiny brain lesions that cause severe epilepsy in children, allowing faster diagnosis, more precise treatment and a potential cure, according to a new study.

Developed by a team at Murdoch Children’s Research Institute (MCRI) and The Royal Children’s Hospital (RCH), the ‘AI epilepsy detective’ can find lesions (focal cortical dysplasias) the size of a blueberry, in up to 94 per cent of cases with the support of medical imaging.

MCRI’s Dr Emma Macdonald-Laurs, a RCH neurologist, who led the team that created the detector, said more accurate diagnosis of cortical dysplasia would lead to faster referrals for epilepsy surgery, fewer seizures and improved long-term developmental outcomes.

“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.”

Published in Epilepsia, the MCRI led study involved 71  children at the RCH and 23 adults at the Austin Hospital with cortical dysplasia and focal epilepsy, which causes recurring seizures. Before using the AI detector’s keen eye, the study found 80 per cent of patients had their diagnosis missed by human examination of their MRI results.

MRI and FDG-positron emission tomography (FDG-PET scans) were used to train the detector, with children separated into training and test cohorts. A separate group of adult scans were used for additional validation of the detector’s performance.

Using information from both MRI and PET scans, the best result was recorded in the test cohort with a success rate of 94 per cent. Of the 17 children in the test group, 12 had surgery and 11 are now seizure free.

About one in 200 children has epilepsy. Cortical dysplasias, which develop when the baby is still in the womb, are a common cause of drug-resistant seizures.

“The seizures usually start out of the blue during the preschool or early school years before escalating to multiple times a day,” Dr Macdonald-Laurs said.

“Children often need to attend the emergency department or be admitted to hospital for treatment. Over time, frequent seizures impact on a child’s behaviour, mood and ability to learn.

“Epilepsy due to cortical dysplasia can, however, be improved or cured with epilepsy surgery if the abnormal brain tissue can be located and removed.” 

But Dr Macdonald-Laurs said cortical dysplasias were hard to spot on routine MRIs, with less than half being recognised on a child’s first scan.

“Cortical dysplasias can be impossible for traditional MRI techniques to identify,” she said.  “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.”

Dr Macdonald-Laurs said with additional funding the team could test the detector in paediatric hospitals across Australia. 

Royal, 5, successfully underwent surgery after scans, aided by the detector, identified a cortical dysplasia.

Mum Gurjinder said he went from having multiple seizures a day to now being seizure free following the procedure.

“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 worst 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.”

Gurjinder said after Royal experienced a longer seizure, causing a heavy nosebleed, he was rushed to the local hospital where he was given antiseizure medications. But with those failing to help and an MRI unable to provide answers, Royal was transferred to the RCH where the cortical dysplasia, was located and removed.

“The whole ordeal took a huge toll on our family and we were struggling mentally,” Gurjinder 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. We are so thankful that Royal is now back to his calm, friendly, patient self.”    

Researchers from The Royal Children’s Hospital, the University of Melbourne, Florey Institute of Neuroscience and Mental Health, Harvard Medical School and the Austin Hospital also contributed to the study.

Publication: Emma Macdonald-Laurs, Aaron E.L. Warren, Remika Mito, Sila Genc, Bonnie Alexander, Sarah Barton, Joseph Yuan-Mou Yang, Peter Francis, Heath R. Pardoe, Graeme Jackson and A. Simon Harvey. ‘Automated detection of bottom-of-sulcus dysplasia on MRI-PET in patients with drug-resistant focal epilepsy,’ Epilepsia. DOI: 10.1111/epi.18628

Available for interview:

Dr Emma Macdonald-Laurs, MCRI Research Officer, Neuroscience and RCH neurologist and epileptologist

Dr Sila Genc, MCRI Clinical Scientist Fellow, Developmental Imaging and RCH Clinical Imaging Scientist

Upkar and Gurjinder, whose son Royal, 6, had a cortical dysplasia

Spiros, whose son John, 11, had a cortical dysplasia

 

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