World breakthrough: Radboudumc AI model can diagnose syndromes by scanning kids' faces

Researchers at Radboud University Medical Center have developed an AI model that can diagnose developmental disorders and syndromes caused by genetic abnormalities by simply scanning children’s faces. This could lead to quick clarity for families on syndromes that would typically take years to diagnose, AD reports.

“We gave the computer the task: recognize these syndromes using the face and medical record of a group of children with forty different syndromes. That went amazingly well,” Lex Dingemans, who is involved in the project as a Ph.D. student, told the newspaper. The artificial intelligence model correctly recognized 37 of the 40 syndromes. The self-learning algorithm also helps to connect syndromes with specific genetic abnormalities.

The invention makes the world smaller because the model can connect a child from Adelaide in Australia with a Rotterdam kid with similar abnormalities. “New syndromes are still emerging, and sometimes only a few dozen cases are known worldwide,” research leader and clinical geneticist Bert De Vries said. Parents often live in uncertainty for a long time. The new invention brings a faster diagnosis closer. “This can be a huge relief for parents.”

“Everyone is capable of recognizing children with Down syndrome. They look more like each other than their brothers or sisters. But there are countless other rare disorders that are much less common,” De Vries said. Diagnosing these syndromes often takes years.

Syndromes caused by genetic abnormalities don’t only result in children having mild to moderate intellectual disabilities, but each syndrome often also has specific physical health problems related to them. Once there is a diagnosis, families and doctors can know what to look out for and how to treat the child most efficiently.

“Once you know for sure that a child has a certain syndrome and that heart or kidney problems occur more often, you are more alert to this. And if epilepsy is common in a certain syndrome, you try to treat those seizures sooner after the diagnosis,” De Vries said.