One in 50 Europeans have some form of congenital birth defect – that is 13 million people. And around 700,000 are living with a cleft lip, cleft palate or both.
While Europe leads the world in birth defects surveillance, inequalities relating to healthcare and social services remain a major challenge. For example, in Romania and Bulgaria, children born with clefts and other birth defects are often institutionalised and deprived of basic rights such as access to care and standard education.
This was the focus of a high level workshop in the European Parliament during October 2012 – co-ordinated by the European Cleft Organisation - that also considered the socioeconomic impact of birth defects and the need to further empower research programmes.
Dundee Dental School’s Professor of Craniofacial Development Peter Mossey was a keynote speaker, addressing an audience of MEPs and other policy makers. “ The debate highlighted in a succinct and very powerful way the extent of the problem, “ explains Professor Mossey. “ This is not only a European but a global issue - but Europe is showing tremendous leadership in identifying the problem and related health inequalities. And through cutting edge infrastructure and research expertise, is identifying cost effective ways to address these problems.”
These include agreeing on a coherent EU-wide strategy dedicated to congenital abnormalities that includes expert collaborations between clinicians, researchers, carers and politicians – so a child can receive expert attention regardless of where they were born.
High level engagement like this has a significant impact on European policy direction and funding priorities that will be shaped by the EU’s Horizon 2020 research and innovation programme – which will run from 2014 to 2020 with an Euro 80 billion budget. “I want to explore how the introduction of educational programmes would promote the implementation of change,” says Professor Mossey. “Combined with discovery research and best treatment protocols, this is what’s needed in many forms of non-communicable diseases such as cancer, cardiovascular disease, cancer, diabetes and obesity as well as congenital birth defects.”
Over the past two decades Professor Mossey has focused on children born with congenital cleft lip and palate. Dundee is also one of only two World Health Organisation Collaborating Centres for research in craniofacial abnormalities – the other is in Rome. His global remit is to facilitate international research and has partners in India, Sub-Saharan Africa and Brazil.
“Clinical trials have revealed much more cost effective and less burdensome treatments for birth defects but many of these have not yet been implemented, “ stresses Professor Mossey. “ There is scope for a massive reduction in health care costs for the treatment of birth defects. Genomics research in birth defects in Europe is leading the rest of the world and there is a need to remain at this cutting edge, which requires further funding.”
Professor Mossey is Principal Investigator of a pan-European programme which is investigating the genetic and lifestyle risks associated with babies being born with a cleft. “Maternal smoking doubles the risk of clefts, so does binge drinking, likewise nutritional deficiency,” explains Professor Mossey. If a genetic predisposition is identified, then the environment or lifestyle can be manipulated to limit the risk of a defect. A planned pregnancy is shown to half the risk among mothers who are more likely to have a child with a cleft.
Peter Mossey was the first researcher to investigate the impact of maternal smoking and folic acid in clefts – and through a collaborative study with colleagues from around the world, was able to demonstrate consistent findings.
Now, there is a massive swing in emphasis towards primary prevention in Europe - and strategies with respect to lifestyle and behavioural change are being piloted and implemented.
He is also involved in developing healthcare management protocols for those born with clefts. They often need a lifetime of surgery, a lifetime of care – speech, hearing, orthodontics, ear-nose-throat plus many have psycho-social problems.
“We are, however, achieving greater success in transmitting our information and key messages to more receptive ears - locally, nationally and internationally,” says Professor Mossey. “For example in January 2011, Scotland published an Oral Health Strategy document that included among its top three priorities congenital craniofacial anomalies.”
In 2012, the UK Healing Foundation announced a £10 million research package - The Cleft Collective - which will deal with two major issues in cleft care: improving the quality of care and reducing morbidity; establishing the cause of clefts, which is a combination of genetic and environmental factors.
On the global front the 63rd World Health Assembly in April 2010 approved a directive regarding birth defects, and initiated the Global Burden of Disease which recognises there is a rising tide of birth defects globally - which contrasts with an improved ability in the developing world to control infections with improved nutrition, sanitation and vaccinations.
Birth defects have therefore been added to what the World Health Organisation describes as the Non-Communicable Diseases (NCDs) Agenda. “Along with other colleagues in different parts of the world I have become involved in the Global Burden of Disease project, sponsored by the WHO, in an effort to determine more accurately how many children die from birth defects in the first five years of life and to provide more information on the quality of life for those who survive, “ explains Professor Mossey.
He is a member of the WHO Global Burden of Disease Committee. His work also involves seeking ways to help countries meet their Millennium Development targets for 2015, particularly through education which is the key to improving maternal and child health.
“For example a child born with a birth defect such as a facial deformity will often be left to die in the developing world even though they are otherwise healthy infants whose condition can be - and are - correctible by surgical and non-surgical care in countries where such access is available,“ says Professor Mossey.
An excellent example of this in action is the work of Smile Train in India which has resulted in tens of thousands of lives being saved by combining awareness through education and access to care. Research in Europe has been successful in demonstrating that simple, non-expensive and less burdensome treatment protocols are very effective in the rehabilitation of children with cleft lip and palate.
However, there’s also a lot of activity closer to home. Students at the Dundee Dental School are formidable fundraisers – and one of the beneficiaries is the Scottish Association for Cleft Lip and Palate (SCALP) which works to improve the quality of care and support research.
Every four minutes, somewhere in the world, a child is born with a cleft. Vital collaborative work aimed at understanding this common condition and raising political awareness is ongoing – and Dundee is making a serious impact.