Royal has a cheeky, contagious laugh that could even make a cranky T-Rex smile. So when the bubbly four-year-old, who loves dinosaurs, started making uncharacteristic laughing sounds, his mum Gurjinder Naneer knew something wasn’t right.

“Royal was a healthy boy, nothing out of the ordinary, until one day his behaviour changed overnight,” she said. “We were going through our home routine after picking Royal up from childcare. But when he went to wash his hands, I could hear this strange, weird laughter coming from the bathroom.

“Upon checking, everything seemed to be normal until later that night, Royal went to the bathroom again where I heard that unnerving laugh. This time I found him holding on tight to the door handle, frozen and laughing.

“Once the episode was over, Royal took a deep breath and felt tired, but told me not to worry. But that wasn’t his laugh and I knew something was wrong.”

Over the next few days, the family kept a close eye on him, checking in with their doctor, hoping to get answers.

“The episodes, later diagnosed as seizures, became more frequent, from a couple a day to one every half an hour, until they started to appear in clusters,” Gurjinder said. “The worst being 19 seizures within just two hours. Every time his whole body would freeze for at least a minute and as the days went on, he lost his appetite.”

After five days of being on tenterhooks, Royal woke up having a larger seizure and with 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, he was transferred to The Royal Children’s Hospital.

It was there that Royal’s family met MCRI clinician-scientist Dr Emma Macdonald-Laurs. As part of her PhD, she developed a machine-learning-based automated detection algorithm using MRI and PET scans for identifying focal cortical dysplasias (FCDs).

FCDs are abnormal brain areas that develop when the baby is still in the womb and are a common cause of drug-resistant seizures in children.

It can be impossible for traditional MRI techniques to identify smaller FCDs, meaning patients sometimes live with seizures for many years. But breakthroughs in AI and ML are enabling much quicker diagnoses.

When Royal arrived at The Royal Children’s Hospital, an MRI-PET scan was performed and the FCD was found using the algorithm that Dr Macdonald-Laurs developed. It identified a tiny cortical dysplasia, about the size of a blueberry.

“AI and big data will be increasingly integrated into our care,” Dr Macdonald-Laurs said. “I think what AI can do for medicine is get from A to B much faster. Rather than waiting 11 years for a diagnosis, it can happen much quicker.”

Across MCRI, researchers are collaborating on new diagnoses and treatments for epilepsy. Families from around Australia are treated using the most advanced molecular, imaging and surgical techniques available. It’s estimated that one in 200 children has epilepsy, and more than 21,000 children in Victoria alone live with uncontrolled seizures.

MCRI is bringing together clinicians, imaging scientists and laboratory scientists to collaborate on new approaches. Dr Katherine Howell is a clinician-scientist, paediatric neurologist and MCRI’s Epilepsy Team Leader. She said seizures often had broad impacts on a child’s health.

“Uncontrolled seizures in a baby’s brain can lead to major developmental setbacks,” she said. “Identifying the cause early can help guide treatment options like medication changes, which can improve seizure control.”

Dr Sila Genc has developed an advanced MRI technique for cellular imaging of cortical matter in the brain to help find these abnormal seizure-causing cells. She said imaging breakthroughs like this, implemented clinically by the Neuroscience Advanced Clinical Imaging Service (NACIS) team, can help to diagnose children faster and help neurosurgeons navigate surgery.

“Our research-integrated approach allows us to get more, better imaging, which in turn enables neurosurgeons to develop a safe surgical roadmap,” she said. “[It’s vital] to avoid important blood vessels and areas of language function and motor structure, to enable a safe surgery.”

As for Royal, he successfully underwent surgery, and his mum Gurjinder said he has not had a seizure since.

“The whole ordeal took a huge toll on our family and we were struggling mentally,” she 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.

“Royal is back to his calm, friendly, patient self. He loves dinosaurs and now has a few more in his collection from friends since spending time in hospital.”