Catherine Michaud-Gosselin
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Research Subjects
Research Interests
Catherine Michaud-Gosselin has a total of 10 co-authors. Here are the top co-authors by number of shared publications:
- Amélie Gauthier
Department of Neurosciences and Pediatrics, Division of Pediatric Neurology, Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada
1 shared publication - Anne-Marie Laberge
Department of Social and Preventive Medicine, School of Public Health University of Montréal Montreal Canada
1 shared publication - Ariane Belzile
Research Institute, McGill University Health Centre, Montreal, QC H4A 3J1, Canada
1 shared publication - Cam-Tu Émilie Nguyen
Department of Neurosciences and Pediatrics, Division of Pediatric Neurology, Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada
1 shared publication - Emilie Groulx-Boivin
Department of Pediatrics McGill University Montreal Quebec Canada
1 shared publication - Jean-François Soucy
Department of Pediatrics, Division of Medical Genetics, Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada
1 shared publication
Latest Publications
- Open Access
- 5 October 2025
- Published by MDPI AG in International Journal of Neonatal Screening
- Vol. 11 (4) , 89
Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience
Clinical trials in spinal muscular atrophy (SMA) have shown that early treatment improves outcomes, prompting inclusion in newborn screening (NBS) programs worldwide. The province of Quebec launched its SMA NBS program in October 2023, with a rapidly progressive implementation. We describe the program’s first-year experience, focusing on screening yield, birth prevalence, clinical outcomes, and challenges. In the first year, 6 of 67,933 newborns screened positive for SMA, all subsequently confirmed by diagnostic testing. Of these, 4 newborns (67%) had two SMN2 copies and 2 newborns (33%) had four copies. Additionally, one symptomatic compound heterozygote infant presented during this period, indicating a provincial birth prevalence of 1 in 9705 live births (95% CI: 1:20,032–1:4701). Two newborns with two SMN2 copies were symptomatic at initial consultation; one transitioned to palliative care and died at 43 days of life. Surviving newborns initiated treatment at a median age of 30 days (range: 9–103 days), with four receiving onasemnogene abeparvovec and one nusinersen. Motor outcomes at three or six months were stable or improved among treated infants. Overall, the Quebec SMA NBS pilot program successfully identified affected newborns, facilitated early access to therapy, and provided the first provincial estimate of SMA birth prevalence. Improved sample shipping and processing times are needed to maximize the program’s impact, which is expected with full automation.
- 5 October 2025
- Published by MDPI AG in International Journal of Neonatal Screening
- Vol. 11 (4) , 89
Open AccessQuebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience
Clinical trials in spinal muscular atrophy (SMA) have shown that early treatment improves outcomes, prompting inclusion in newborn screening (NBS) programs worldwide. The province of Quebec launched its SMA NBS program in October 2023, with a rapidly progressive implementation. We describe the program’s first-year experience, focusing on screening yield, birth prevalence, clinical outcomes, and challenges. In the first year, 6 of 67,933 newborns screened positive for SMA, all subsequently confirmed by diagnostic testing. Of these, 4 newborns (67%) had two SMN2 copies and 2 newborns (33%) had four copies. Additionally, one symptomatic compound heterozygote infant presented during this period, indicating a provincial birth prevalence of 1 in 9705 live births (95% CI: 1:20,032–1:4701). Two newborns with two SMN2 copies were symptomatic at initial consultation; one transitioned to palliative care and died at 43 days of life. Surviving newborns initiated treatment at a median age of 30 days (range: 9–103 days), with four receiving onasemnogene abeparvovec and one nusinersen. Motor outcomes at three or six months were stable or improved among treated infants. Overall, the Quebec SMA NBS pilot program successfully identified affected newborns, facilitated early access to therapy, and provided the first provincial estimate of SMA birth prevalence. Improved sample shipping and processing times are needed to maximize the program’s impact, which is expected with full automation.