Theme: Epidemiology, Phenotyping, Genetics, Outcomes

The AMC Registry is a large, multi-site, prospective international registry designed to transform the understanding and care of children with Arthrogryposis Multiplex Congenita (AMC). Hosted across eight Shriners Hospitals sites in Canada, United States and Mexico, the registry currently includes 600 children. This rich dataset includes pregnancy and birth history, joint involvement, mobility, pain, quality of life, self-care, and surgical outcomes.

A major innovation of the AMC Registry is its integration of whole genome sequencing, enabling the discovery of new genetic variants and improving diagnostic precision. 

The registry supports four overarching aims:

 • Describe patient-reported outcomes and factors associated with these outcomes in children with AMC 

 • Evaluate surgical outcomes to guide evidence-based best practices.
• Develop a Gross Motor Function Classification for AMC (GMFC-AMC) to better monitor functional changes.
• Correlate genotype and phenotype to illuminate pathways leading to congenital contractures.

This registry provides an unprecedented foundation for advancing functional classifications, international data harmonization, and personalized medicine approaches for AMC.

Funding: 

Shriners Children’s 79137 (2023-2026)

SHC-GIT Seed: Platform Architecture and Machine Learning for Arthrogryposis 72032 (2021-2023) 

Shriners Children’s 79150 (2019-2022)

Shriners Children’s 79150 (2017-2018)

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Theme: Measurement Development & Psychometrics

SHAPE-UP is the first AMC-specific upper extremity functional assessment tool designed to evaluate the unique ways children with AMC perform daily tasks despite upper-limb contractures.

The project progressed through:
• Scoping reviews & patient-partnered item generation, identifying meaningful activities such as grasping objects, bringing items to the mouth, and self-care tasks.
• A modified Delphi process with 40 international clinicians and experts, establishing consensus on clinically relevant items.
• A large multi-site validation study involving 120 children across six Shriners sites, using Rasch Measurement Theory to create a robust, psychometrically sound item bank.
• Reliability and responsiveness testing, including inter-rater, test–retest, and sensitivity to change following upper extremity surgery.

Once complete, SHAPE-UP will provide clinicians with a standardized, reliable assessment that reflects real functional performance and compensatory strategies—significantly improving evaluation and treatment planning for children with AMC.

Funding: 

Shriners Children’s 79149 (2024-2027)

Shriners Children’s 79152 (2021-2023)

OEQ-REPAR (2017-2019) awarded to Caroline Elfassy

Fonds de la Recherche du Quebec- Santé awarded to Caroline Elfassy

CRIR Doctoral Studentship awarded to Caroline Elfassy

Theme: Advancing Pediatric Assessment Through AI-Driven Innovation.

The SHAPE-UP measure is a clinically validated, AMC-specific tool designed to evaluate upper-limb functional abilities in children with Arthrogryposis Multiplex Congenita. While SHAPE-UP is highly relevant and meaningful for clinicians, scoring requires careful observation, time, and consistency across raters and centers. To address these challenges, this project integrates artificial intelligence and computer vision to automate and enhance the scoring process.

Using video recordings of children performing SHAPE-UP tasks, the AI model identifies key body landmarks, tracks movements, and analyzes functional performance. The system then generates automated scoring predictions aligned with the SHAPE-UP categories. Early work demonstrates that AI can reliably detect joint angles and movement patterns, even in complex scenarios such as atypical limb positions, overlapping joints, or non-standard compensatory strategies.

This project aims to:
• Improve scoring reliability across clinicians, sites, and time points
• Reduce scoring time and clinician burden
• Increase access to high-quality assessment in remote or busy clinical settings
• Support large-scale research, where manual scoring of hundreds of videos is not feasible

The AI-enhanced SHAPE-UP system represents a major step toward standardized, efficient, and scalable functional assessment in pediatric rehabilitation. By combining clinical expertise with advanced machine learning, this project seeks to transform how upper-limb function is evaluated in children with AMC, enabling informed treatment planning and better monitoring of outcomes over time.

Funding:

Quebec Network for Intersectoral Research in Sustainable Oral and Bone Health awarded to Yongni Zhang, PhD PT (2026)

Theme: Functional Classification Development

The GMFC-AMC project aims to develop the first condition-specific Gross Motor Function Classification System for children with AMC.

The development process includes:
• A 15-member multi-disciplinary development panel (therapists, surgeons, orthotists, individuals with lived experience).
• Three rounds of international nominal groups and Delphi surveys to reach consensus about content clarity, relevance, and usefulness.
• A multi-site reliability study involving 160 children and up to 30 clinicians across eight Shriners Hospitals.
• Evaluation of inter-rater reliability, test-retest reliability, and parent–clinician agreement using kappa coefficients and ICCs.

The GMFC-AMC will provide a standardized method for classifying gross motor function, guiding treatments, and supporting clinical research worldwide.

Funding: 

Shriners Children’s 79137 (2023-2026)

Brazilian cultural translation funded by National Council for Scientific and Technological Development (CNPq) through the Chamada Pública MCTI/CNPq nº 16/2024 - Apoio a Projetos Internacionais de Pesquisa Científica (2024-2026) awarded to Clarice Araujo, PhD

RI-MUHC fellowship awarded to Clarice Araujo, PhD (2024-2025)

Theme: Evidence-Based Clinical Practice & Implementation Science

The DARE project involves the creation and implementation of rehabilitation guidelines for AMC using a rigorous, patient-engaged methodology.

The guidelines were developed through:
• Five major scoping reviews identifying evidence gaps in self-care, mobility, pain, muscle and joint function, and psychosocial wellbeing.
• International expert panels of orthopedists, physiatrists, occupational and physical therapists, social workers, and individuals with AMC and their families.
• The GRADE framework, adapted for limited rare-disease evidence.
• A modified Delphi consensus process to finalize recommendations.

This project will accelerate the translation of evidence-based care into practice, reduce variability in rehabilitation approaches, and ultimately improve physical and psychosocial outcomes for children with AMC.

Funding: 

Edith Strauss Knowledge Translation grant

Theme: Family Impact, Health Economics, Psychosocial Wellbeing

This global mixed-methods study explores the direct, indirect, and psychosocial costs of caring for a child with AMC — an often overlooked but critical aspect of rare disease management.

The project includes:
• A validated caregiver cost questionnaire, developed by experts in rehabilitation, social work, health economics, and lived experience.

 • An international quantitative survey to understand the direct, indirect and psychosocial costs for caregivers of children with AMC, available in English, French, and Spanish.
• Standardized measures of caregiver wellbeing (EQ-5D-3L, SF-12) and child health-related quality of life (EQ-5D-Y).
• In-depth qualitative interviews with caregivers of children with AMC to capture their lived experiences.

Outcomes measure:
• Direct (out-of-pocket expenses) and indirect (medical, travel, lost work time) costs.
• Psychosocial strain.
• Factors predicting higher cost or distress (child’s age, surgical history, joint involvement, caregiver characteristics).

This study will inform policymaking, resource allocation, and the development of supports to reduce caregiver strain and improve family quality of life.

Funding:

CRIR Doctoral Studentship awarded to Rose Elekanachi