“There can be no keener revelation of a society’s soul than the way in which it treats its children.”
— Nelson Mandela, Former President of South Africa —
Why this research is important?
Many African children born with disorders are never diagnosed, or are only diagnosed later in life. This means that they don’t get the life-saving medical screening and treatment that they need when they need it. Some of these children likely die from associated conditions (such as heart defects), even though these conditions could have been treated if their disorder was diagnosed in time.
Part of the problem is that many of these disorders are more difficult to recognise in African children because we know so little about the specific facial features associated with these disorders in African populations. For example, Down syndrome which is easily recognised in Western infants are often difficult to recognise in Black African infants.
We aim to change that by identifying the facial features associated with a range of disorders in South African, and particularly African kids. Once we have identified these features we can develop a facial screening tool that can help doctors identify the specific disorders more easily..
Rationale behind the study
Around 700 disorders have characteristic facial features associated with them. These facial features can play an important role in the initial diagnosis of these disorders, but they differ somewhat between different populations. While most European infants with Down syndrome are diagnosed before or shortly after birth, half the Black African infants with Down syndrome are only diagnosed at 7 months or older.
By this age they should have already been screened and treated for serious medical conditions associated with Down syndrome, such as heart defects, thyroid and hearing problems. If it is this difficult to identify Down syndrome in African infants, just imagine how difficult it is to identify less well-known syndromes, such as Prader-Willi, Fragile X and Marfan syndrome.
Our research strategy
It is clear that we need more research to identify the specific facial features associated with these disorders in African infants and children, so how do we plan to do it?
First, we need accurate facial photographs of children with and without the disorder. 3D images are ideal because they contain information on a range of different dimensions, so we can identify key facial features more accurately. An accurate 3D camera will enable us to precisely capture and identify these facial features. Commercial 3D cameras that work well on infants – who rarely sit still when you ask them – are really expensive. Moreover, as far as we can tell there are currently no commercial 3D facial imaging systems in South Africa, or Africa for that matter.
We previously built our own 3D camera, which successfully produces 3D images, however, our camera is not accurate enough. The money raised will go towards building a more accurate 3D camera that will be accurate enough to fulfil our needs. The images will then be analysed to identify the specific facial dimensions that differ between those affected and those not affected by the disorder. Once identified, these facial dimensions can be used to develop a facial screening tool that can help doctors identify the specific disorders more easily.
Our first project aims to identify the specific facial features associated with Down syndrome in African children and infants. Once the groundwork has been laid we will include more researchers and more disorders (such as autism, mitocondrial disorders, Prader-Willi, Marfan and Fragile X syndrome) to reach our ultimate goal of developing a facial screening tool for various different disorders in African infants and children.
Dr Ghabrial will also be using the camera to more accurately identify (and track) nasal asymmetries in children with cleft lip and palate, in order to improve methods to correct these nasal asymmetries (See more information in the “Meet the team” section).
Shifting perspectives 365 by Richard Bailey. Beautiful images of children with Down syndrome. (Image adapted from Andreas Photography. Online Image. 8 December 2015.
Meet the team
Our research team consists of researchers and clinicians with complimentary specialities that contribute to the overall aim of the programme.
Dr Vinet Coetzee
Dr Vinet Coetzee
Facial Morphology Research group, Department of Genetics, University of Pretoria, South Africa
Dr Coetzee has extensive expertise in facial morphology analysis. Her most recent works focuses on identifying the facial features associated with health and disease. Vinet has published 21 papers and presented her work at two national and nine international conferences.
“This 3D camera can open so many doors for facial dysmorphology research in Africa. My hope is that our work will help diagnose children that would otherwise have slipped through the cracks unnoticed”
Dr Engela Honey
Department of Genetics, University of Pretoria, South Africa.
Dr Honey is a paediatrician that specialises in children with dysmorphic features (abnormalities in the shape or size of body features). She has over 20 years’ of clinical experience, have published 13 papers and presented her work at six national and seven international conferences.
“I am very excited and I am already thinking of other projects that we could do with the camera. I think building up a database with photos of certain syndromes will be helpful to enable syndrome recognition. 3D technology is a very exciting new research field.”
Kishen Mahesh
Department of Genetics, University of Pretoria, South Africa.
Kishen’s PhD project aims to identify the facial features associated with Down syndrome in the South African population. Kishen has published one paper from his MSc.
“A more sophisticated 3D camera will provide us with the means to create a platform on which my research can be quickly translated into applied clinical practice. Such technology would be beneficial not only to my study but to future research projects as well.”
Dr Emad Ghabrial
Department of Orthodontics, University of Pretoria, South Africa.
Dr Ghabrial is a specialist with over 30 years’ of clinical experience in Dentistry and Orthodontics. His research focuses on improving the nasal asymmetries in children with cleft lip and palate.
Prof Izelle Smuts
Department of Paediatrics, Steve Biko Academic Hospital, and University of Pretoria, South Africa.
Prof. Izelle Smuts is a registered paediatric neurologist employed in the Department of Paediatrics, Steve Biko Academic Hospital, and University of Pretoria. She is head of the Paediatric Neurology Unit, managing the entire spectrum of paediatric neurology and neurodevelopmental disorders along with her team. Her special research focus is mitochondrial disorders in the South African context. Dysmorphic features are common amongst all these patients, but have not been described in the African context and harbour a wealth of information.
Prof Smuts has published 20 papers, a book and a book chapter and presented her work at over 60 national and 23 international conferences.
A young Child with Cleft-Lip
Our funding goal
We are all volunteering our labour free of charge, so all the money for the funding goal will go towards the equipment and materials needed to build the 3D camera. These include:
| Description | Price in Pounds | Price in Rands |
| Photographic equipment | £ 1 913 | R 44 000 |
| Software | £ 113 | R 2 600 |
| Computer hardware and cables | £ 334 | R 7 700 |
| Other materials | £ 390 | R 9 000 |
| Total | £ 2 750 | R 63 300 |
What is our stretch goal if we overfund?
Any additional funds would go towards training students or postdocs to recruit and collect images and data from participants. That way we can produce results much faster, have a bigger impact on more disorders and develop expertise within the country.
What the results may show?
Our first results will likely identify:
- The facial features associated with Down syndrome in African children and young infants.
- The facial features associated with autism and/ or some metabolic disorders in African children and young infants.
- The specific nasal asymmetries associated with cleft lip and palate.
Once these results have been obtained we will include other disorders as well. Ultimately we want to identify the specific facial features associated with a whole range of disorders in African children and infants.
When do we plan to start?
We plan to start building the improved 3D camera as soon as our funding goal has been reached. Once the camera has been completed and the ethics have been approved, we can start with the data collection!
As featured in…
Brighter future for Down’s kids, By Katherine Child
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…read full article
SA DOCTORS TURN TO CROWDFUNDING TO BUILD CAMERA THAT DETECTS DOWN’S SYNDROME
Scientists at the University of Pretoria’s Department of Genetics are developing a 3D camera that could assist in the early detection of genetic disorders, but they need funding to make the camera a reality. To do this researchers at the university have launched a crowdfunding campaign through the platform Walacea.
On hearing about the campaign, we were curious as to why the university decided to go with a lesser-known crowdfunding platform and not one of the better-known ones like Kickstarter, or even South Africa’s own Thundafund….read full article
Endorsements
Prof David Perrett, University of St Andrews, UK, author of “In Your Face: The New Science of Human Attraction”
“This is great. Once syndromes are characterised, it will be possible to estimate the likelihood of a syndrome from just a 3-D photo, a great help in diagnosis and treatment. A lot of work but worth it!”
More info on Prof David Perrett…
Sheri Brynard, International Ambassador of Down Syndrome International
“I would very much like to be part of any research to help people with Down syndrome. I am also part of the LonDown research project in London and I cannot wait to be part of this research, done by Dr Coetzee, because by doing so I can help future generations of people like myself to receive more assistance than I got when I was born”
Learn more about Sheri’s amazing story below:
The Perks
Thank you for considering a donation! Your contribution will make a big difference to our research and hopefully change many children’s lives.
We know that giving makes you feel good and that you are probably doing this out of kindness, but we still want to give a small token in return to show how much we appreciate your contribution. Details about the perks are indicated below and on the right hand side of the page.
Interested in donating, but you want a different perk or no perk at all? No problem, choose the amount you would like to pledge ignoring the perks listed then fill out this quick form to let us know which option you would like instead.
Participants and Collaborators
If you are a person (or have a child) affected by one of these disorders and you would like to take part in the study, please email Dr Coetzee (vinet.coetzee@up.ac.za). Similarly, if you are a researcher or a person working in the field and would like to collaborate on the project, please also email me. It would be great to have you on board!
Image courtesy of Stuart Miles at FreeDigitalPhotos.net
1 Comment
Leave a Reply
-
Natalie Jonk
gbp 2.00 -
Anonymous
gbp 5.00 -
Hester Neethling
gbp 25.00 -
Therese de Castro
gbp 12.00 -
Nicole Creux
gbp 12.00 -
Anonymous
gbp 2.00 -
Christo Vermeulen
gbp 12.00 -
Annie Gous
gbp 5.00 -
Ross Whitehead
gbp 5.00 -
Alma Vermeulen
gbp 5.00 -
Rane Oelofse
gbp 5.00 -
Ingi Freyr
gbp 12.00 -
Anonymous
gbp 25.00 -
Anonymous
gbp 5.00 -
Tracey Prigge
gbp 50.00 -
Anonymous
gbp 25.00 -
Canon Jonk
gbp 1,920.00 -
Anonymous
gbp 500.00 -
Minique de Castro
gbp 25.00 -
Vida Van Staden
gbp 5.00 -
Michael Murphy
gbp 12.00 -
Michael Murphy
gbp 12.00 -
Ofer Reichman
gbp 12.00 -
Polly Reichelt
gbp 25.00 -
Bennett Klusas
gbp 35.00
Congrats on reaching your goal UPSA team!