AnnualReport2020

enhance the child’s ability to perform the activities of daily living. Another effort involves developing wearable sensory transfer devices for patients with diminished peripheral sensation or amputations, which would improve their ability to use intuitively powered prostheses and orthoses. Shriners Hospitals for Children — Philadelphia is working with Georgia Tech staff on these two projects. Another project, in conjunction with Shriners Hospitals for Children — Greenville, involves creating a smart robotic exoskeleton designed to address excessive knee flexion (crouch gait), a condition common in patients with cerebral palsy, which can lead to permanent joint deformity if untreated, as well as reduced independence, including the inability to walk. In addition, bringing in the Shriners Hospitals for Children network of 14 pediatric motion analysis centers and the health care system’s newly launched Genomics Institute will provide unique research opportunities for both organizations. Finding Answers for Children with Arthrogryposis In a multicenter effort, our hospitals in Montreal, Quebec, Canada; Philadelphia, Pennsylvania; Sacramento, California; and Portland,

Oregon, are currently working together to create a data registry of information on arthrogryposis. Information on risk factors, medical history, functional abilities, pain and quality of life among 300 children with arthrogryposis will be collected as part of this registry. In a subset, next generation sequencing will be done on blood or saliva samples to identify genetic causes. This systematic recording of data will generate multiple research possibilities, ultimately leading to enhanced care and new treatment methods for children with this complex condition. Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, is clinically defined as joint contractures at birth of two or more body areas (joints), and affects one in 3,000 individuals. There are more than 400 specific conditions associated with arthrogryposis. What those conditions seem to have in common is that they cause the baby not to move as much as they should during pregnancy. When the unborn baby is moving during pregnancy, the muscles and ligaments are being stretched. When something goes wrong and movement in utero is limited, contractures may occur, leading to arthrogryposis.

Rare diseases, such as arthrogryposis, are often under-represented in research, although research activities are essential to ensure delivery of exceptional health care. The objective of this multisite four- year grant is to establish a registry that will provide the foundation for providing therapies for arthrogryposis that are innovative and evidence- based. The information from the registry will help answer important questions such as what the different kinds of arthrogryposis are, how these conditions affect children differently, and what kinds of treatments may be effective. The data collected will advance our knowledge on early detection, effectiveness of treatments and genetic causes. By instituting a multicenter, collaborative approach, the study will be able to recruit large numbers of patients with this single, rare condition, making the information collected much more meaningful. All of the research efforts at Shriners Hospitals for Children are meant to one day improve available treatments

for children with orthopaedic conditions, burn injuries, spinal cord injuries, and cleft lip and palate, and help fulfill our mission of improving and transforming lives.

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