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Strengthening clinical capacity in spinal muscular atrophy: Developing and implementing training on clinical outcome assessments

Title: Strengthening clinical capacity in spinal muscular atrophy: Developing and implementing training on clinical outcome assessments
Authors: Osman, Homira; Masnata, Maria; Adamji, Zainab; Rodrigue, Xavier; Nguyen, Cam-Tu Émilie; Slayter, Jeremy; Beattie, Erin; Lintern, Stacey; Lochmuller, Hanns; O’Connell, Colleen; Gagnon, Cynthia; Warman-Chardon, Jodi
Contributors: Canadian Institutes of Health Research
Source: Journal of Neuromuscular Diseases ; ISSN 2214-3599 2214-3602
Publisher Information: SAGE Publications
Publication Year: 2026
Description: Background: Clinical Outcome Assessments (COAs) are essential for monitoring progression and treatment response in neuromuscular diseases. However, substantial variability exists in training, confidence, and implementation of COAs among clinical evaluators working with individuals with Spinal Muscular Atrophy (SMA). This study aimed to identify and address these gaps within the Canadian clinical context through a phased educational initiative guided by the Rare Knowledge Mining Methodological Framework (RKMMF). Methods: A qualitative, phased design was used. A needs assessment with 71 physiotherapists and occupational therapists via focus groups identified inconsistent access to SMA-specific training and challenges in applying standardized assessments. Based on these findings, expert faculty co-developed and delivered bilingual workshops incorporating real-world evaluation videos, simulation-based learning, and multidisciplinary case discussions. Pre- and post-workshop surveys, based on an adapted Kirkpatrick Model, measured changes in familiarity, preparedness, and clinical confidence. Data were analyzed using thematic content analysis and descriptive statistics. Results: Seventy-nine evaluators from Canada participated. Pre-workshop data revealed major gaps in familiarity with SMA-specific COAs. Post-workshop surveys indicated a 75% average increase in self-reported preparedness, with the greatest gains in the Adapted Test of Neuromuscular Disorders 3.0. Four key themes emerged: limited training and support networks; the critical role of multidisciplinary collaboration; constraints of current COAs due to ceiling and floor effects; and the value of integrating patient-reported outcomes in clinical practice. Conclusion: Peer-led, evidence-informed workshops significantly improved clinical preparedness in SMA assessment. These findings support the need for ongoing training strategies and demonstrate the RKMMF as a scalable approach for capacity-building in rare disease care.
Document Type: article in journal/newspaper
Language: English
DOI: 10.1177/22143602261416298
Availability: https://doi.org/10.1177/22143602261416298; https://journals.sagepub.com/doi/pdf/10.1177/22143602261416298; https://journals.sagepub.com/doi/full-xml/10.1177/22143602261416298
Rights: https://creativecommons.org/licenses/by-nc/4.0/ ; https://journals.sagepub.com/page/policies/text-and-data-mining-license
Accession Number: edsbas.C5527EE7
Database: BASE