title: Long-term functional and mobility outcomes for individuals with arthrogryposis multiplex congenita.
abstract: Arthrogryposis multiplex congenita (AMC) is a birth defect that involves congenital joint contractures in two or more joints including the limbs, spine, and jaw. The purpose of our study was to identify long-term outcomes of adults with AMC. We recruited 177 participants from over 15 countries, making this the largest international study of adults with AMC. Participants provided demographic information including living situation and mobility and completed two standardized outcome measures, of quality of life and physical activity, using an online survey format. The data were compiled and descriptive analyses were performed. The study group consisted of 72% females and a mean age of 39 years. Over 90% of participants had upper and lower limb involvement, 35% had scoliosis or lordosis while 16% had jaw problems. Participants had an average of nine (0-70) surgeries at the time of the study. The majority (75%) of respondents lived independently of family members (on their own or with a partner). Participants were nearly three times more likely to have a graduate degree than the general US population. Participants reported lower physical function scores than the general US population; however, they reported similar or higher scores for the other quality of life domains of the SF-36. They were considerably less physically active than able-bodied individuals. Half of participants experienced chronic back pain and 60% reported joint pain. Additionally, almost half of the participants took regular pain medications.
authors.affiliation: Department of Orthopaedics, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Hirmand
authors.initials: H
authors.lastname: Nouraei
authors.affiliation: Department of Orthopaedics, University of British Columbia, Vancouver, British Columbia, Canada.|International Collaboration on Repair Discoveries, Vancouver, British Columbia, Canada.
authors.forename: Bonita
authors.initials: B
authors.lastname: Sawatzky
authors.affiliation: International Collaboration on Repair Discoveries, Vancouver, British Columbia, Canada.|Rehabilitation Sciences, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Megan
authors.initials: M
authors.lastname: MacGillivray
authors.affiliation: Departments of Medical Genetics and Pediatrics, University of British Columbia and BC Children's Hospital, Child and Family Research Institute, Vancouver, British Columbia, Canada.
authors.forename: Judith
authors.initials: J
authors.lastname: Hall
mesh_terms: D000328:Adult; D000368:Aged; D001176:Arthrogryposis / Q000150:complications / Q000453:epidemiology* / Q000503:physiopathology*; D001416:Back Pain / Q000150:complications / Q000503:physiopathology*; D015444:Exercise; D005260:Female; D006801:Humans; D007596:Joints / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D011788:Quality of Life; D014481:United States / Q000453:epidemiology
keywords: adults; arthrogryposis multiplex congenita; long-term outcomes; natural history; quality of life