Navigating new motor function trajectories: Consensus recommendations for assessment in the era of newborn screening and early treatment in SMA
Year: 2026
Type: article
Abstract: BACKGROUND: Approved disease modifying treatments (DMTs) and the implementation of newborn screening for spinal muscular atrophy (SMA) have allowed individuals treated early to gain new motor abilities and achieve more typical motor milestones. In this changing landscape, current motor function outcome measures (MF-OMs) used in SMA clinical practice may no longer be sufficiently sensitive enough to optimally quantify new disease trajectories and evolving functional progression. OBJECTIVE: To develop a consensus-derived recommendation for MF-OMs to be used in assessing infants and children living with SMA who were treated with DMTs very early in life. METHODS: A modified Delphi methodology which included three web-based surveys and virtual conferences was conducted with an international group of multidisciplinary experts treating infants and children living with SMA who were treated early. Community input was also collected via semi-structured interviews. RESULTS: A consensus-derived recommendation for MF-OMs to be routinely administered in early treated infants and children living with SMA was developed. Consensus recommendations included both SMA-specific and non SMA-specific MF-OMs for five age periods. MF-OMs were inclusive of Clinician-Reported, Caregiver/Patient-Reported, and Performance/Functional Outcome Measures. Recommendations on optimal assessment frequency varied across age periods from quarterly to bi-annually. CONCLUSIONS: Clinicians with expertise in SMA achieved consensus on establishing relevant MF-OMs to implement from infancy through childhood to track motor progress in early treated infants. Routine data collection using recommended MF-OMs will facilitate cohort comparison for research collaborations to better understand new disease trajectories and motor progression of this population.
Authors: Kristin J Krosschell, Sally Dunaway Young, Elizabeth Maczek, Laurey Brown, Katie Hoffman, Chiara Corbo Galli, Robert Muni Lofra, Giorgia Coratti, Meghan Moore Burk, Elise L Townsend, Carolyn Kelley, Christa Weigel, Matthew Civitello, Cara H Kanner, Melissa McIntyre, Leslie Nelson, Vamshi Rao, Diana Castro, Michelle Farrar, Nancy L Kuntz, Susan D Apkon, Zarazuela Zolkipli-Cunningham, for the NBS-SMArt Working Group
Institutions: Northwestern University, Stanford University, Harvard University, Lurie Children's Hospital, Newcastle University, Università Cattolica del Sacro Cuore, Agostino Gemelli University Polyclinic, Istituti di Ricovero e Cura a Carattere Scientifico, Children's Hospital Colorado, MGH Institute of Health Professions, Fairview Health Services, St. Jude Children's Research Hospital, Columbia University Irving Medical Center, University of Utah, The University of Texas Southwestern Medical Center, UNSW Sydney, Sydney Children's Hospital, Sydney Children’s Hospitals Network, Children's Hospital of Philadelphia, University of Pennsylvania
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Funders: Cure SMA, National Institutes of Health
OpenAlex ID: W7151350819