One in 10 children seek a health care visit for a musculoskeletal problem, yet research in this area has received limited funding. Arthrogryposis multiplex congenita (AMC) is a rare lifelong MSK condition in which children are born with many contractures of the joints, usually affecting the upper and lower limbs, spine and jaw. AMC may also affect other systems, such as digestive, excretory and central nervous systems. In order to improve the physical and psychosocial wellbeing for people with AMC, intervention should start early and include a long term follow-up by an interdisciplinary team. As of yet, research studies in AMC have provided little information about causes, natural history and which treatments work best.
My research program aims to improve the treatments provided to children with AMC using a collaborative approach with youth, families and clinicians. Engaging with patients and clinicians in AMC research serves to establish research priorities together to address the most pressing concerns. I will be using qualitative, quantitative, and integrated knowledge translation designs, including individual interviews, focus groups, consensus methods, psychometric testing, and standardized outcome measures to achieve the proposed objectives. Deliverables include the creation and development of a population-based registry, rehabilitation guidelines, an AMC-specific outcome measure, and a home exercise program using communication technology.
The expected contribution is to significantly advance clinical management and research in an understudied population. By promoting communication among clinicians and families and developing toolkits to enhance care and ensure its uniformity, provision of evidence-based care to children with AMC will be facilitated. In addition, the establishment of a pediatric registry will create a research platform for prevalence data, and explain the causes and risk factors for AMC leading to improved diagnosis and treatment of individuals with AMC in Quebec, North America and worldwide.