Shriners international group organizes first Arthrogryposis Multiplex Congenita research event

The International Arthrogryposis Multiplex Congenita Consortium (IAMC) Lab, led by Noémi Dahan-Oliel erg., OT, PhD, McGill School of Physical & Occupational Therapy, held its first research event earlier this fall, in Montreal. The event was organized to provide an update on the accomplishments and new directions in research into arthrogryposis – a rare congenital joint disorder – conducted by a Montreal group of experts. The group also includes the Director of the Multidisciplinary Clinic for AMC, orthopedic surgeon Reggie Hamdy, MD; pediatrician and Director of the Biomolecular Laboratory, Frank Rauch, MD; clinical research coordinators; undergraduate and graduate students; and postdoctoral fellows.

Arthrogryposis Multiplex Congenita (AMC) is an umbrella term used to describe a group of congenital conditions characterized by joint contractures in two or more body areas. AMC is a rare condition that affects one in 3,000-5,200 live births. The underlying cause is a lack of fetal movement in utero, which may be due to genetics, environmental factors, or abnormalities during fetal development. Individuals with AMC have limited joint movement, which may limit mobility, independence in self-care activities, and participation in daily activities.

Under the direction of Dahan-Oliel, the IAMC Lab brings together multidisciplinary stakeholders, including people with lived experience and representatives from patient support groups worldwide. The vibrant group is currently working on several projects including a multisite registry combining phenotype and genotype with patient-reported outcomes; the development of a condition-specific measure; and caregivers’ experience.

Research topics presented at the event included an AMC registry update, best practices for AMC diagnostic classification; genetic results of whole genome sequencing and phenotyping; how to best evaluate effectiveness post-surgery by developing a new classification using radiographs; social determinants; psychosocial health; and the development of new tools, including a gross motor functional classification system and an AMC-specific outcome measure for the upper extremity.

The day concluded with a summary and opportunities for future research with the multidisciplinary team of orthopedic surgeons, pediatricians, occupational therapists, physiotherapists, and clinical research coordinators from eight Shriners Children's sites who made the event possible.

If you are interested in future events or collaborations, please contact noemi.dahan [at] (Noemi Dahan-Oliel erg., OT, PhD ).


Upcoming event: The International Arthrogryposis Consortium (IAMC) Lab in the SPOTlight – Virtual Presentation

Transforming Children’s Healthcare through Genomics Research - Shriners Children's - YouTube

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