Shriners Children's Leads Cutting-edge Arthrogryposis Research

Earlier this fall, the Shriners Children's Arthrogryposis Research Group met for its first research event at Shriners Hospitals for Children — Canada. This research group is led by Noémi Dahan-Oliel, OT, Ph.D., clinician scientist at Shriners Hospitals for Children — Canada. Together with the director of the multidisciplinary clinic for arthrogryposis multiplex congenita (AMC), orthopedic surgeon Reggie Hamdy, M.D., and Director of the Biomolecular Laboratory Frank Rauch, M.D., they are joined by scientists, physicians, healthcare professionals and clinical research coordinators from eight Shriners Children's locations: Canada, Chicago, Greenville, Shreveport, Portland, Philadelphia, Northern California and Mexico. The goal was to share knowledge on research projects funded by Shriners Children’s and other funding sources.

The event provided an update on the accomplishments and new directions in research into arthrogryposis multiplex congenita – which is an umbrella term used to describe a group of congenital conditions characterized by joint contractures in two or more body areas. AMC is rare and affects one in 3,000-5,200 live births. The underlying cause is a lack of fetal movement in utero, which may be due to genetics, environmental factors, or abnormalities during fetal development. Individuals with AMC have limited joint movement, which may limit mobility, independence in self-care activities, and participation in daily activities.

This research group brings together stakeholders from multiple disciplines, including orthopedics, pediatrics, genetics, occupational therapy, physical therapy and kinesiology, as well as people with real-life experience and representatives from patient support groups. This vibrant group is currently working on several projects, including a multisite registry combining information on different patient physical traits (phenotype) alongside the genetic causes (genotype). This information is paired with patient-reported outcomes used to understand the history of AMC, how to best evaluate post-surgery effectiveness, and to develop a gross motor functional classification system for AMC. The team also aims to better understand the experience of caregivers of children with arthrogryposis, using a survey and interviews, and is developing a new condition-specific measure, a first with AMC!

The day concluded with an event summary and the discovery of opportunities for future research with the multidisciplinary team.

If you are interested in future events or collaborations, please contact Noemi Dahan-Oliel, OT, Ph.D.