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.

Quality of life, satisfaction with life, and functional mobility of young adults with arthrogryposis after leaving pediatric care

“…Arthrogryposis or arthrogryposis multiplex congenita (AMC) refers to a group of more than 300 different disorders characterized by multiple congenital joint contractures (Baumshad, Van Heest, & Pleasure, ; Hall, Reed, & Greene, ; Kowalczyk & Felus, ; Nouraei, Sawatzky, MacGillivray, & Hall, ). The overall prevalence is one in 3,000 to one in 10,000 live births (Dillon, Bjornson, Jaffe, Hall, & Song, ; Lowry, Sibbald, Bedard, & Hall, ; Nouraei et al, ). The two most common forms of AMC are classic amyoplasia and distal arthrogryposis (Kowalczyk & Felus, ).…”

Development of an online registry for adults with arthrogryposis multiplex congenita: A protocol paper

“…The survey questionnaires were developed for English speakers, which may be challenging for those who speak English as a second language and will exclude those who cannot communicate in English. However, previous work by some members of the team, who developed the first AMC data set using this technique (Nouraei et al, ), found that including participants with English not as their primary language was not a significant problem. In that study, half the participants were interviewed to collect additional data and to clarify the data collected.…”

“…Since that meeting, there have been a few cross‐sectional studies using predominantly self‐report, study‐specific questionnaires that have examined long‐term outcomes (Altiok, Flanagan, Krzaki, & Hassani, ; Dubousset & Guillaumat, ; Jones, Nouraei, Miller, & Sawatzky, ; Nouraei, MacGillivray, Hall, & Sawatzky, ; Steen, Werke, & Vøllestad, ). The findings from all of these studies indicated that most individuals with AMC generally become educated (Nouraei et al, ), live independently or with some support (Dubousset & Guillaumat, ), and require assistance with mobility devices (i.e., walkers, crutches, manual and power wheelchairs or scooters for community, and sometimes home mobility; Altiok et al, ; Nouraei et al, ; Steen et al, ). Most studies were relatively small (<70 people); however, Nouraei et al () included 177 participants from 15 countries.…”

“…The findings from all of these studies indicated that most individuals with AMC generally become educated (Nouraei et al, ), live independently or with some support (Dubousset & Guillaumat, ), and require assistance with mobility devices (i.e., walkers, crutches, manual and power wheelchairs or scooters for community, and sometimes home mobility; Altiok et al, ; Nouraei et al, ; Steen et al, ). Most studies were relatively small (<70 people); however, Nouraei et al () included 177 participants from 15 countries. They used two standardized questionnaires: the Short Form‐36 Health Quality of Life (SF‐36) and the Physical Activities for People with Physical Disabilities.…”

Summary of the 3rd international symposium on arthrogryposis

“…Following the first two symposia, there was agreement that emphasis should be placed on collecting information about the natural history into adulthood on each disorder, and to develop mechanisms for evaluation, classification, and utilizing consistent procedures. Since then, progress was made in gaining a better understanding of outcomes in adults with AMC (Dai et al, ; Nouraei, Sawatzky, MacGillivray, & Hall, ) and a pain and disability index was validated for adults with AMC (Jones, Miller, Street, & Sawatzky, ). In addition, a research platform for children with AMC in North America (Dahan‐Oliel et al, ) and an international longitudinal registry for adults were funded in 2017 and data collection is currently underway (Sawatzky et al, ).…”