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Dr. Carrie Heike continues her quest to give families better guidance and identify therapies for craniofacial microsomia that work best.

Dr. Carrie Heike decided to study craniofacial microsomia (CFM) when she was a young pediatrician in Seattle Children’s Craniofacial Clinic and realized there was no nationally accepted standard treatment for children with CFM. This is partly because the condition presents in many ways – one patient might have a malformed ear and missing ear canal while another has unaffected ears but an asymmetrical jaw. CFM can be difficult to diagnose and treatment must be tailored to each patient. Still, Heike was frustrated that she couldn’t answer parents’ basic questions, like whether CFM makes it harder for their child to succeed in school.

“I knew we could do a better job of giving families the answers they deserve,” she says.

In 2012, Heike, Dr. Matthew Speltz and other colleagues received a five-year, $3.8 million grant from the National Institutes of Health (NIH) to do the first-ever study of how CFM impacts infant and toddler development. It’s a key step toward Heike’s goal of developing evidence-based standards to treat CFM.

“We want to see if there’s a link between CFM and social and learning problems, and explore which particular malformations may be associated with neurodevelopmental outcomes,” she says.

Building an innovative research network

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The study is the first to make use of a collaborative research network that Heike, Dr. Daniela Luquetti, other Seattle Children’s colleagues and national collaborators spent three years building. The Facial Asymmetry Collaborative for Interdisciplinary Analysis and Learning (FACIAL) network brings together top research institutions to study best practices for CFM. Currently, Children’s Hospital of Los Angeles, Children’s Hospital of Philadelphia, Northwestern University, and the University of North Carolina are all contributing.

“The FACIAL network will facilitate studies that compare outcomes and develop standards that guide CFM treatment no matter where a child is born,” Heike says.

CFM treatment can include hearing amplification, reconstructive jaw and ear surgery and speech therapy. But one institution might offer ear surgery when a child is 6 or 10, while another institution offers a different procedure at age 3. No one knows which timing or which procedure leads to the best outcomes.

How does CFM affect infants and toddlers?

Heike and Speltz are co-leading the infant and toddler study that monitors the neurodevelopmental and social development of 125 children with CFM from birth to age 3 and compares them to children who don’t have CFM.

One aspect of the study will evaluate whether children with CFM-related hearing problems are more likely to develop speech problems or other issues. This sets the stage for studying whether hearing aids or other interventions improve these outcomes and helps researchers design interventions that improve child development.

“We’d like to help facilitate evidence-based early interventions for children with CFM to make sure they have optimal neurobehavioral outcomes,” Heike says.

Using 3D images to improve treatment

The team will also take 3D photos of each study participant’s head and face and then use advanced software to measure craniofacial variation, like the degree of asymmetry of the face. The measurements will help quantify how severe a child’s malformation is and take the guesswork out of evaluating surgery by providing a baseline for comparison.

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“Instead of relying on a doctor’s subjective opinion of whether a child looks better, we’ll be able to know exactly how much a surgery changes their face,” Heike says.

It’s part of Heike’s larger push to use 3D images to improve understanding of craniofacial conditions. Her lab is building a database of images of people with typical craniofacial features to provide a baseline for identifying a variety of craniofacial conditions. Heike also contributes to FACEBASE, a project to build online databases of 3D images of children with craniofacial conditions.

"FACEBASE will save researchers time and money by letting them pool their data and use it in all sorts of different studies,” Heike says.

Giving families better answers

For now, Heike is relieved to be able to tell parents that she’s working on finding the answers to their questions.

“When families ask me which treatments will be best for their child, I can now assure them that we’re working with experts around the country to find out.”

Drs. Carrie Heike and Matthew Speltz are leading the first-ever, NIH-funded study of CFM’s impact on infant and toddler development – a key step toward developing evidence-based standards of treatment.