Our Research

Our current research team, led by Dr. Sawatzky’s lab, who also has AMC, pioneered a study that included the largest sample population of AMC ever completed. We found from a sample of 177 people with AMC from around the world that we do quite well considering the physical challenges we face. It also showed that we are adaptive in our daily lives. Although we often require mobility devices to get around in the community and sometimes at home, we manage a work life, family life and a social life. We do struggle with pain and a worry for the future as abilities seem to change with age (Nouraei H, Sawatzky B, MacGillivray M, Hall J. Arthrogryposis: Long term quality of life analysis American Journal of Medical Genetics – Part B, 173(5)  1270-78, 2017.). 

This research was only the beginning, capturing a snapshot in time, as we seek to understand how our abilities change as we age. We want to know how people are adapting. What health care interventions are needed? Help us understand these issues and many more through our new study.

Click here to learn more about the study

Highlighted below are some of the latest research articles published about issues related to AMC.  Do you have a topic of interest you'd like to pass on to our researchers?  We recognize there is much to learn about adults living with AMC and value your input. 

Access to the following journals may be found at your local university and, more frequently, now are free online. A special issue about AMC is to be published September 2019 in the American Journal of Medical Genetics.

2023

Mental health in adults living with arthrogryposis multiplex congenita. American Journal of Medical Genetics. April 2023

This is the first study to examine specific predictors of depression in adults with AMC, in which 60 participants from the International Adult AMC Registry answered questions about mental health. Fatigue and anxiety correlated the highest with depression, and other key factors include occupational status (paid and volunteer work), environmental status, as well as age and sex. Clinicians can consider medications, treatments, and rehabilitation that target reducing anxiety, fatigue, and environmental barriers as helpful tools to support mental health for adult AMCers.

2022

Test-retest reliability for performance-based outcome measures among individuals with arthrogryposis multiplex congenita. BMC Musculoskeletal Disorders. February 2022

This paper examined the between-day and test-retest reliability (i.e. consistency of results) of performance tests for gait and balance for AMC adolescents and adults. Through their research, they determined specific walking tests that best revealed differences in participants with AMC which can help to inform clinical decision making.

Characterizing Pain Among Adolescents and Young Adults with Arthrogryposis: a scoping review. Pediatric Physical Therapy. July 2022

Pain is common among those living with AMC, affecting their mobility and other health outcomes. While levels and severity of pain were similar between adolescents and adults, adults were more likely to have a greater number of body regions with pain.

Current rehabilitation practice for the evaluation and treatment of children with arthrogryposis: an international survey. Disability and Rehabilitation. December 2022

Current practices in rehabilitation for children with AMC were found to be different based on different areas of the world, participant age, and severity of contractures. These compiled interventions can help develop expert rehabilitation practices and clinical decision-making. This study provides reliable tools to help measure and better understand pain in children with AMC.

Long term ophthalmic complications of distal arthrogryposis type 5D. Ophthalmic Genetics. december 2022

Distal arthrogryposis type 5D was studied in two sisters with AMC, ages 42 and 46, that showed increasing complications with their eyes. This study helps to identify aging-related health priorities including eyesight and eye muscles health as well as potential treatment options.

2021

Psychosocial wellbeing among children and adults with arthrogryposis: a scoping review. Health and Quality of Life Outcomes. November 2021

A scoping review across pediatric and adult research explored how the psychosocial health of people living with AMC are evaluated and supported. AMCers were found to score highly and comparably in terms of happiness and satisfaction with life, while also experiencing challenges in other areas including pain and peer relation.

Benard M. Sesque A. Barthelemy I. Depeyre A. Arthrogryposis multiplex congenita and limitation of mouth opening: Presentation of a case and review of the literature. Journal of Stomatology, Oral and Maxillofacial Surgery. February 2021

Prior to paper, little information was available on treating AMC patients with restricted mouth openings. This paper discusses a single patient and the stepwise process used in treating this patient by assessing the ability to eat properly and dental care, evaluating the damage to the joints and muscles in the jaw, and considering the long-term physical therapy needed to prevent a relapse.

Hall j. The mystery of monozygotic twinning I: What can Amyoplasia tell us about monozygotic twinning and the possible role of twin–twin transfusion? american Journal of Medical genetics. march 2021

This paper examines the relationship between Amyoplasia and pregnancies of identical twins where identical twins share unequal amounts of the placenta’s blood supply. A condition during these pregnancies is linked to increased incidence of Amyoplasia in one twin, but not the other.

Hall J. The mystery of monozygotic twinning II: What can monozygotic twinning tell us about Amyoplasia from a review of the various mechanisms and types of monozygotic twinning? American Journal of Medical Genetics. March 2021.

Similar to the first paper on twin- twin transfusion, this paper gives a possible link to identical twins and its relationship to Amyoplasia. More discussion on the multiple distinct ways in which identical twins can occur are outlined.

Hall J. The Clubfoot, Le Pied-Bot. American Journal of Medical Genetics. May 2021.

“The Clubfoot” is a painting from the late 16th century by Juesepe de Ribera, housed in Paris’ Musee du Louvre, that portrays a boy with characteristics classically associated with Amyoplasia. This paper describes how the boy in the painting and our modern diagnosis of Amyoplasia are comparably similar.

2020

Wall B. L. Vuillerman C. Miller P. Bae D. Goldfarb C. Patient-reported Outcomes in Arthrogryposis. Journal of Pediatric Orthopaedics. August 2020.

Participants included 15 children with distal arthrogryposis and 14 with amyoplasia. The study examined patient reported outcomes on their physical and emotional state. Although the children with amyoplasia scored lower in upper limb function and high in pain, both groups scored normally for peer relationships and happiness.

Elfassy C. Cachecho S. Snider L. Dahan-Oliel N. Participation Among Children with Arthrogryposis Multiplex Congenita: A Scoping Review. Physical & Occupational Theory in Pediatrics. April 2020.

A scoping review across formal research studies and informal and YouTube videos on AMC indicates that these resources help demonstrate physical activity levels and effective interventions among AMC patients. Additional research is needed to address the barriers that affect the motivation of children with AMC to participate in activities.

2019

Elfassy C, Darsakali VB, Snider L, Gagnon C, Hamdy R, Dahan-Oliel N. Rehabilitation needs of youth with arthrogryposis multiplex congenita: Perspectives from key stake holders. Disability and Rehabilitation.  2019.

Twenty-seven participants completed the interviews and demographic information was collected where early-active rehabilitation began at birth in most cases and became less frequent through adolescence. Three overarching themes were determined for each stakeholder group.

Hall J, Dahan-Oliel N, Sawatzky B, Samargian A, Van Bosse H. Summary of the 3rd International Symposium on Arthrogryposis. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. (Accepted, Mar 2019)

This is a summary of the 3rd international meeting on Arthrogryposis held in Philadelphia Sept 2018.  Key issues from the meeting are described in this introductory paper.

Sawatzky B, Dahan-Oliel N, Davison AM, Hall J, van Bosse H, Mortenson W. Development of an Online Registry for Adults with Arthrogryposis Multiplex Congenita: A protocol paper. American JourNAl of Medical Genetics Part C: Seminars in Medical Genetics. (Accepted, Mar 2019).

This paper describes the process by which an international online adult registry for people with AMC was originated. It gives an insight into how long it takes to create a registry like this one.

Sawatzky B, Jones T, Miller R, Nouraei H. The relationship between joint surgery and quality of life in adults with arthrogryposis: an International study. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. (Submitted Mar 2019).

Many people with AMC require many surgeries, especially during childhood. This study looks at the relationship between those surgeries and the adult quality of life.

Cirillo A, Collins J, Sawatzky B, Dahan-Oliel N. Pain among children and adults living with athrogryposis multiplex congenita: a scoping review. American JournAl of Medical Genetics Part C: Seminars in Medical Genetics. (Submitted Mar 2019).

Pain is a significant challenge for both adults and children with AMC. This paper reviews the literature on tools to measure pain as well as what has been reported on the problem of pain for these individuals.

Wagner L, Cherry S, Sawatzky B, Farfara A, Elfassay C, Montpetit K, Ericksson M, Bucci T, Donohoe R. Rehabilitation across  the lifespan for children with Arthrogryposis. American Journal of Medical Genetics Part C: Seminars in Medical Genetics.(Submitted Mar 2019).

An overview of issues related to providing physical and occupational therapy for patients with AMC, from the newborn to young adulthood, is provided in this work.

Rodriguez L. Christina B. Russo S. Barnes D. Gagnon M. Hamdy R. Veilleux L. Perspectives on gait and motion analysis in the management of youth with arthrogryposis multiplex congenita. American Journal of Medical Genetics. July 2019.

This commentary describes quantified gait analysis (QGA) and quantified motion analysis (QMA) applied to identify best interventions in Amyoplasia. The authors believe that QMA can potentially document the changes in children that use upper limb orthoses, as well as QGA, such as energy expenditure and pressure on the foot, can provide helpful information to inform treatment.

Donohoe M. Pruszcynski B. Rogers K. Bowen J. R. Predicting Ambulatory Function Based on Infantile Lower Extremity Posture Types in Amyoplasia Arthrogryposis. Journal of Pediatric Orthopaedics. August 2019.

Children with Amyoplasia were studied based on sitting, standing, and walking skills from infancy into adulthood. Patients can be divided into 5 Types based on severity and kinds of impairment to predict physical functioning later in life.

2018

Dai S. Dieterich K. Jaeger M. Wuyam B. Jouk P. Perennou D. Disability in Adults with Arthrogryposis is Severe, Partly Invisible, and Varies by Genotype. Neurology. April 2018.

This paper focus on pain and psychological problems including anxiety, fatigue, difficulty in sexual life, altered self-esteem, and feelings of solitude associated to Amyoplasia that are often overlooked. These less visible disorders contribute greatly to reduced participation and physical functioning in Amyoplasia than other types of AMC.

Jones T, Miller R, Street J, Sawatzky B. Using the Oswestry Disability Index for Pain and Disability in Arthrogryposis Multiplex Congenita. Annals of Physical and Rehabilitation Medicine. June 2018

Prior to this study, no clinical or research outcome was validated for people with AMC who experience pain. Fifty adults with AMC were included to validate the Oswestry Disability Index to measure the impact of pain on activities of daily living.

Isaacson G. Drum E. Difficult Airway Management in Children and Young Adults with Arthrogryposis. World Journal of Otorhinolaryngology – Head and Neck Surgery. June 2018.

Surgical treatment for a limited group of patients with AMC can be complicated and requires specific anesthesia approaches due to limited jaw mobility, restricted lung development, and difficulties in bone positioning. This paper discusses some of the planning and surgical practices can lead to successful outcomes after operations.

Eriksson M. Jylli L. Villard L. Kroksmark A. Bartonek A. Health-related Quality of Life and Orthosis Use in a Swedish Population with Arthrogryposis. Prosthetics and Orthotics International. August 2018.

Children with AMC orthoses scored lower in physical activity and daily functioning than healthy controls. However, whether these children were dependent on orthoses or not, they perceived themselves as normally healthy and satisfied with their orthoses.

2017

Komolkin I, Ulrich E, Agranovich O, van Bosse H. Treatment of scoliosis associated with arthrogryposis multiplex congenita. Journal of Pediatric Orthopedics. 37, S24-26. 2017.

Scoliosis in children with arthrogryposis occurs in the minority of patients, but appears early, often present at birth. Curves can progress quickly. Treatment options include spine casting, bracing, expandable implant surgery, and spinal fusion. The goal is to allow as much chest growth and development as possible, along with a resulting well-balanced spine.

Nouraei H, Sawatzky B,  MacGillivray M, Hall J. Arthrogryposis: Long term quality of life analysis American Journal of Medical Genetics – Part B, 173(5)  1270-78, 2017.

177 adults with AMC from 15 countries participated in an online questionnaire. This study provides data on demographics, living situation, education, impact of pain, and  quality of life for these individuals.

Miller R, Sawatzky B. Outcomes at 2-Year Minimum Follow Up of Shoulder, Elbow and Wrist Surgery in Individuals with Arthrogryposis Multiplex Congenita. J Clin Exp Orthop 3:28, 2017.

Hand, elbow and shoulder surgery are less common in AMC than in the lower extremity. Using a systematic approach to the research, this paper explores what surgeries have shown to be the most succesful with a 2 yr follow up minimum.