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Fri Jul 01 10:00:59 CAT 2016

Brighter future for Down's kids

KATHARINE CHILD | 11 January, 2016 06:25
File photo.
Image by: Calmtwood/ Flickr.com

South African scientists are to embark on research to see if the facial structures of Africans hold clues they can use in diagnosing medical disorders.

Exploiting hi-tech computer software and a 3D camera, researchers in the University of Pretoria's department of genetics plan to improve their understanding of how genetic disorders reveal themselves in the facial features of babies.

They want to learn how a disorder can affect South African infants' faces to facilitate design of an electronic screening tool that will help doctors diagnose a pathology more quickly simply by taking a photograph of a patient's face. Early detection of a condition such as Down's syndrome can save a baby's life.

"There are more than 7000 genetic conditions, of which 700 have specific facial characteristics," explained University of Pretoria paediatrician Engela Honey.

"How you look [physically] is determined in some way by genes and this is why some genetic conditions can affect the face."

Many children with Down's syndrome have heart problems and should be operated on before they are six months old - but are too often diagnosed months too late.

"After six months, some children's hearts are inoperable," said Honey, an expert in diagnosing conditions by looking at faces.

She said doctors and nurses not specialised in facial diagnosis might miss subtle clues. That is why, she said, it is important to develop software that can make diagnosis easier for overstretched health workers.

Researchers at Pretoria University's facial morphology group will this year take 3D photographs of 100 black and white children with Down's syndrome and compare them to photographs of children free of the condition.

They will use computers to sift the data for facial markers that differentiate between children and infants of different races with and without the condition. About 2000 facial markers will be assessed, said the university's geneticist, Vinet Coetzee.

"Many of the differences in faces are not visible to the naked eye but can be detected with the right technology," said Coetzee, who has been studying faces and how they relate to medical disorders for 10 years. She is heading the research.

The study of facial morphology in the medical context is relatively new and little is known about how local faces might hold diagnostic clues.

Coetzee said UK scientists had found a differentiation of about a millimetre in the facial structure of children that constituted a marker for autism.

Older research, done in South Africa, shows that many black infants are diagnosed with Down's syndrome at seven months old, much later than most white babies, said Coetzee.

One reason for this is that a flat nasal bridge, a symptom of the condition, is common in many black children. But babies born in state hospitals are less likely to be seen by a specialist than those born in a private hospital.

Down's syndrome affects one in 476 to 775 children in this country, Coetzee said. It causes intellectual impairment, a flat nose, slanted eyes and increases susceptibility to heart conditions, hearing and thyroid problems, and weak muscles.

Coetzee hopes that a computerised facial screening tool for Down's syndrome in babies will be available in five years.

At the end of this month the researchers will use public crowdfunding to raise R57,300 to finance the building of the 3D camera and purchase of the computer software needed. They are building the camera themselves because buying one would cost more than R500,000.

Tineke Gantz-Malan, chairman of Western Cape Down's Syndrome Association, said: "Any tool that will improve detection will be great."

Coetzee is urging parents to volunteer their children to participate in the research.

UPDATE: 13 January 2016

University of Pretoria scientists have launched their crowdfunding application to raise money to build a 3D camera need to analyse children's faces to see signs of disease.

They are among the first South Africans to use crowdfunding to get money for research. They are using British Science site Walacea to raise money.

University of Pretoria geneticist Vinet Coetzee said "she liked the idea of getting the general public involved in medical research".

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