When it comes to birth defects, craniofacial microsomia (CFM) isn’t a household name. But it’s the second most common congenital facial condition, affecting more than one in every 3,500 children. It occurs when part of a child’s face – usually the ear or jaw – is underdeveloped, and it can profoundly impact a child’s ability to hear, eat, breathe or speak. Which explains why Dr. Carrie Heike is on a mission to revolutionize our understanding of CFM.
“Children with CFM often need clinical care from infancy to adulthood,” says Heike, a principal investigator at Seattle Children’s Research Institute, “but we know little about what causes it, there’s no consensus on how to define who does and doesn’t have it, and there are no established clinical standards of how to care for affected children.”
Since 2009, Heike has been part of a team, which includes Seattle Children’s Drs. Daniela Luquetti and Craig Birgfeld, that’s working with colleagues to develop an innovative research network, called the Facial Asymmetry Collaborative for Interdisciplinary Analysis and Learning (FACIAL). The network’s goal is to bring top pediatric research organizations together to accelerate progress by pooling their expertise and conducting studies together.
Three renowned institutions – Children’s Hospital of Los Angeles, Children’s Hospital of Philadelphia and the University of North Carolina – have joined the network alongside Seattle Children’s Research Institute. Together, they have laid the foundation for new clinical studies that help unravel CFM’s causes and identify the most effective treatments. For instance, they developed a standardized research definition of CFM, pinpointed methods for identifying children with this condition, and created standardized ways to assess the severity of each child’s condition.
“We have developed tools to make it easier for everyone in the network to identify when a child has craniofacial microsomia, to determine how each child is affected by the condition, and to assess how the children have responded to various medical and surgical interventions,” Heike says.
The researchers also developed new research protocols – the rules that govern their clinical studies and ensure the best possible results. So far, 100 children with CFM, as well as their families and children who don’t have the condition, have participated in the initial network study.
In 2012, the team’s progress was rewarded when the NIH awarded them a new, five-year grant to continue their work. For instance, Heike is launching a new study with Seattle Children’s Dr. Matt Speltz that will use the FACIAL network to look at how CFM affects neurological and social development in infants and toddlers. This could illuminate the factors that contribute to neurodevelopmental delays, academic problems and social and behavioral issues in children with CFM. In turn, it could help identify early interventions that limit these effects.
“We’re excited to explore some of the most longstanding questions about craniofacial microsomia,” Heike says, “and to find answers that translate directly into improved treatments for children.”