Global study looks to improve lives of individuals with congenital condition

A major five-year study led by researchers at the University of the West of England (UWE Bristol) and Seattle Children’s Hospital will explore how best to improve healthcare and support services for individuals born with craniofacial microsomia (CFM), a complex long-term condition present from birth that most commonly affects the ears and jaw.

The $3 million (£2.2m) research project, funded by the National Institutes for Health in the USA, will investigate the psychological and health impacts of the condition and explore the healthcare provision needed to treat and support individuals and families effectively.

CFM is a congenital condition that occurs in approximately one in every 3,500 - 4,000 births in the UK. One or both sides of the face are underdeveloped, affecting the form and function of the ears, eyes, cheeks, jaw, and/or teeth. Individuals born with the condition can experience difficulties with hearing, breathing, feeding and speech development, and their facial appearance is often affected.

The complexity of the condition means that many individuals undergo multiple surgeries and take part in a range of treatments throughout childhood and into adulthood. This, alongside an altered facial appearance, can greatly impact quality of life for individuals and their families.

Despite the anticipated psychological impact of the condition and the complexity of treatment, healthcare and psychological research is scarce and previous studies have been small in scale.

This project brings together an international team of experts in research, clinical care, and patient advocacy for individuals with CFM. Its mission is to serve the craniofacial microsomia community, which includes individuals born with CFM, their families, healthcare teams, researchers, advocacy groups, education providers, policy makers, and members of the public. The researchers will look to learn about the lived experiences of the community to improve wellbeing and to make a lasting difference to how individuals live with the condition.

Senior Research Fellow Dr Nicola Stock, who is leading the project from UWE Bristol and works out of its Centre for Appearance Research, said: ‘‘This project represents a huge investment into an area that is significantly under-researched. We're delighted to be working with an international team with a wide range of expertise, and to be partnering with a number of prominent charities and advocacy groups.

“Together, our community has the potential to make a significant contribution to knowledge and to the care that affected individuals and families around the world receive.’’

The study will see researchers speaking to individuals, parents, health providers, and advocacy leaders across the US, UK, Europe, and Australasia, and will involve interviews, surveys, and an international participant registry.

Paediatrician and Professor Dr Carrie Heike, who is leading the project from Seattle Children’s Hospital and works in its Craniofacial Centre, said: “We have an unprecedented opportunity to hear from over 1,000 participants in this five-year project. I’m looking forward to learning throughout the study and translating this knowledge into improving healthcare delivery for individuals with craniofacial conditions.”

Maarten Koudstaal, Consultant Craniomaxillofacial Surgeon at the Erasmus Medical Center in the Netherlands is one of several international partners working on this project. Dr Koudstaal said: “Surgery is a minor part of the life story of these individuals and this research really jumps into the gap of gaining knowledge about the psychosocial challenges and holistic needs. My view of the future is that individuals will be helped to make choices about what is most important for them and when, and that their journey is their own, not a fixed care pathway for all.”

More information about the study is available on the CARE website.