Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience
Abstract
1. Introduction
2. Materials and Methods
2.1. SMA NBS Program Description
2.2. Data Collection
2.3. Statistical Analysis
3. Results
3.1. Affected Newborns with Two SMN2 Copies
3.2. Affected Newborns with Four SMN2 Copies
3.3. Timeline of Diagnosis and Treatment Initiation
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
Abbreviations
AAV9 | Anti-Adeno-associated virus |
AIMS | Alberta Infant Motor Scale |
BSID-IV | Bayley Scales of Infant Development IV |
CHOP-INTEND | Children’s Hospital of Philadelphia Infant Neurological Test for Neuromuscular Disorders |
HFMSE | Hammersmith Functional Motor Scale Expanded |
HINE-2 | Hammersmith Infant Neurological Examination part 2 |
INESSS | Institut national d’excellence en santé et en services sociaux (National Institute for Excellence in Health and Social Services) |
NBS | Newborn screening |
PCR | Polymerase chain reaction |
PQDNS | Programme québécois de dépistage néonatal sanguin (Québec Newborn Screening Program) |
SMA | Spinal Muscular Atrophy |
SMN1/2 | Survival motor neuron 1/2 |
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Steps | Case 1 | Case 2 1 | Case 3 2 | Case 4 | Case 5 | Case 6 | Mean | Median |
---|---|---|---|---|---|---|---|---|
Days Since Birth | ||||||||
Sample Drawn | 3 | 2 | 1 | 1 | 2 | 1 | 1.7 | 1.5 |
Sample received by PQDNS | 7 | 7 | 3 | 5 | 10 | 4 | 6 | 6 |
Initial positive screen | 17 | 17 | 16 | 20 | 34 | 10 | 19 | 17 |
Parents contacted by selected referral site | 17 | N/A | 16 | 20 | 34 | 11 | 19.6 | 17 |
First consult in clinic and confirmatory labs sent | 17 | 0 | 16 | 20 | 37 | 12 | 17 | 16.5 |
Confirmatory diagnosis | 24 | 3 | N/A | 23 | 41 | 25 | 23.2 | 24 |
First treatment initiation | 28 | 9 | N/A | 30 | 103 | 45 | 43 | 30 |
Patient Characteristics | ||||||||
Sex | F | F | M | F | M | M | - | - |
Number of SMN2 copies | 2 | 2 | 2 | 2 | 4 | 4 | - | - |
Clinical signs at initial consultation | No | No | Yes | Yes | No | No | - | - |
Treatment received | OA | OA | None | OA | OA | NUS | - | - |
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© 2025 by the authors. Published by MDPI on behalf of the International Society for Neonatal Screening. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
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Groulx-Boivin, E.; Belzile, A.; Nguyen, C.-T.É.; Gauthier, A.; Chrestian, N.; Michaud-Gosselin, C.; Giguère, Y.; Berthier, M.-T.; Soucy, J.-F.; Laberge, A.-M.; et al. Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience. Int. J. Neonatal Screen. 2025, 11, 89. https://doi.org/10.3390/ijns11040089
Groulx-Boivin E, Belzile A, Nguyen C-TÉ, Gauthier A, Chrestian N, Michaud-Gosselin C, Giguère Y, Berthier M-T, Soucy J-F, Laberge A-M, et al. Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience. International Journal of Neonatal Screening. 2025; 11(4):89. https://doi.org/10.3390/ijns11040089
Chicago/Turabian StyleGroulx-Boivin, Emilie, Ariane Belzile, Cam-Tu Émilie Nguyen, Amélie Gauthier, Nicolas Chrestian, Catherine Michaud-Gosselin, Yves Giguère, Marie-Thérèse Berthier, Jean-François Soucy, Anne-Marie Laberge, and et al. 2025. "Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience" International Journal of Neonatal Screening 11, no. 4: 89. https://doi.org/10.3390/ijns11040089
APA StyleGroulx-Boivin, E., Belzile, A., Nguyen, C.-T. É., Gauthier, A., Chrestian, N., Michaud-Gosselin, C., Giguère, Y., Berthier, M.-T., Soucy, J.-F., Laberge, A.-M., & Oskoui, M. (2025). Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience. International Journal of Neonatal Screening, 11(4), 89. https://doi.org/10.3390/ijns11040089