Researchers at Radboud university medical center have made a worldwide medical breakthrough. They developed a computer model that recognizes a disease in children’s faces. It involves the diagnosis of developmental disorders and syndromes resulting from a genetic abnormality.
“This can be a huge relief for parents,” says research leader and clinical geneticist Bert de Vries of Radboud university medical center. Often the father and mother of a child live in uncertainty for a long time about why their child has an intellectual disability. The new invention brings a faster diagnosis closer.
Two to three percent of children are born with an intellectual disability. Add to that people with a form of autism and you are at more than 5 percent of the population. But there are thousands of different genetic abnormalities that could be the cause, and each genetic variation could cause a specific abnormality.
Mental disorder
Developmental disorders as a result of a genetic abnormality not only result in children having a mild or moderate intellectual disability, each syndrome often also has specific physical abnormalities. Once the diagnosis is made, doctors can be more focused on it.
De Vries: ,,Once you know for sure that a child has a certain syndrome and that heart or kidney problems occur more often, it is better to check for this. And if epilepsy is common in a certain syndrome, you try to treat those seizures sooner after the diagnosis.”
We gave the computer the task: recognize these syndromes using the face and the medical record. That goes amazingly well
“Everyone is capable of recognizing children with Down syndrome. They look more alike than brothers or sisters. But there are countless other rare disorders that are much less common. That is why for many, the redeeming diagnosis is often not forthcoming.
Small chance
Determining the diagnosis is also important for parents in another way. Once it is certain that the abnormality in their child is the result of an accidental genetic abnormality, then it is also clear that they need not be so concerned that a subsequent child will have the same problem.
Genetic abnormalities are part of nature. They just happen. At the same time, the chance of it happening again with a second child is very small.”
A developmental disorder is often accompanied by other physical characteristics, such as heart or kidney defects, as well as facial features. The researchers called in the Artificial Intelligence department of Radboud University to have a self-learning algorithm recognize the syndromes based on this combination of data.
Astonishing
,, We gave the computer the task: recognize these syndromes using the face and the medical record of a group of children with forty different syndromes. That is going amazingly well”, says Lex Dingemans, who is involved in the project as a PhD candidate. The computer model correctly recognized 37 of the 40 syndromes. In addition, the algorithm helps to make the connection with specific genetic abnormalities.
The invention makes the world a bit smaller. Because a child from Adelaide in Australia will soon be easier to compare with someone with comparable abnormalities from Rotterdam. This is important for the understanding and diagnosis of disorders that are so rare. “New syndromes are still emerging, and sometimes only a few dozen cases are known worldwide,” says research leader and clinical geneticist Bert de Vries of Radboud university medical center.
Mothers sometimes torment themselves with the question: did I do something wrong during pregnancy? But that’s not the case, it just happens
The discovery that children can be diagnosed more quickly for a rare syndrome thanks to a facial scan also means that they can be treated better as patients. For example, it helps to detect and monitor heart problems more quickly.
The degree of relief that a diagnosis means for parents cannot be underestimated, says De Vries. “Family members often live in uncertainty for many years. And mothers sometimes torment themselves with the question: did I do something wrong during pregnancy? But that’s not the case, it just happens.”
Fifteen years later
That clarity sometimes only comes after many years. “We recently diagnosed a syndrome in a child that we first examined fifteen years ago. Even after so many years, this gave clarity and a lot of peace for the parents and other family members.
Patient association Zeldsamen confirms the long search of many parents for a diagnosis. A spokesperson is pleased with the new invention. “Artificial Intelligence helps computers to know so much more than a doctor who might see one or two cases of a certain syndrome.”
Check out our most viewed news videos in the playlist below:
Free unlimited access to Showbytes? Which can!
Log in or create an account and don’t miss a thing of the stars.
#World #Radboud #university #medical #center #computer #recognizes #syndrome #facial #scan