A groundbreaking artificial intelligence tool capable of detecting minuscule brain lesions in children with epilepsy promises to revolutionize diagnosis and potentially offer a cure. Developed by researchers at the Murdoch Children's Research Institute and The Royal Children's Hospital, this 'AI epilepsy detective' can pinpoint cortical dysplasias, lesions as small as a blueberry, with an accuracy of up to 94 percent.

Epilepsy, characterized by severe seizures due to uncontrolled electrical activity in the brain, can in rare instances lead to brain damage and even sudden death. These cortical dysplasias have historically been challenging to identify on routine MRIs, with over 80 percent of cases being missed by human examination alone before the advent of this new tool. Less than half were detected on a child's initial scan, significantly delaying diagnosis and access to potentially curative surgery.

Dr. Emma Macdonald-Laurs, a neurologist at The Royal Children's Hospital and study lead, emphasized that more accurate and earlier diagnosis of these lesions is crucial. It enables tailored treatment options, helps neurosurgeons meticulously plan and navigate surgery—avoiding critical blood vessels and brain regions governing speech, thought, and movement—and minimizes the need for invasive testing. Such precision can lead to faster referrals for surgery, a reduction in seizure frequency, and an improved prognosis for affected children.

Published in the journal Epilepsia, the study involved 71 children from the Royal Children's Hospital and 23 adults from the Austin Hospital, all suffering from cortical dysplasia and focal epilepsy. After training the AI detective with both MRI and PET scans, the tool dramatically improved detection rates. Of 17 children in a test group, 12 underwent surgery, with 11 subsequently becoming seizure-free.

The profound impact of frequent, uncontrolled seizures on a child's behavior, mood, and learning ability underscores the urgency of early intervention. Epilepsy stemming from cortical dysplasia can often be improved or entirely cured through surgery if the abnormal brain tissue can be accurately located and removed. Failure to identify this tissue prolongs the diagnostic pathway and can prevent a child from receiving potentially life-changing epilepsy surgery, increasing the likelihood of developing learning difficulties, including intellectual disability.

Royal, a five-year-old patient, exemplifies the detector's success. After suffering increasingly frequent and severe seizures, with traditional scans failing to identify the cause, lesions were finally detected with the aid of the new tool at The Royal Children's Hospital. Following surgery, Royal is now seizure-free, a testament to the tool's effectiveness. His mother highlighted the relief: “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.”

Cortical dysplasias, which develop in utero, are a common cause of drug-resistant seizures. These seizures often emerge unexpectedly during early school years, escalating rapidly. In such cases, surgery—either to remove the affected brain part or implant a device to interrupt chaotic nerve signals—is typically necessary. Researchers are now seeking additional funding to test the detector in pediatric hospitals across Australia, hoping to expand its reach and offer better diagnosis and a potential cure for many more children living with this debilitating condition, which affects approximately one in every 200 children.