P.076 3-year Clinical Lessons Learned from the Alberta Spinal Muscular Atrophy Newborn Screening (SMA-NBS)
Bibliographic record
Abstract
Background: Spinal muscular atrophy (SMA) is caused by biallelic mutations in the SMN1 gene. Early diagnosis through newborn screening (NBS) and presymptomatic treatment optimize health outcomes. Methods: SMA-NBS began in Alberta on 28February2022. A multiplex quantitative PCR assay detected homozygous deletions of exon 7 in dried blood spot samples. Screen-positive infants underwent genetic confirmation by multiplex ligation-dependent probe amplification to determine SMN1/SMN2 copy numbers. We report clinical outcomes of SMA diagnoses through Alberta NBS over 3 years. Results: From 28February2022-31December2024, twelve infants were confirmed SMA positive, including two with 2 SMN2 copies and six with 3 SMN2 copies. Median age at initial positive screen was 6 days (range=3-9), and at diagnosis, 15 days (range=11-27). Seven infants (median age=29 days, range=18-142) received onasemnogene abeparvovec-xioi. Two received nusinersen (Day 22) or risdiplam (Day 72), followed by onasemnogene abeparvovec-xioi (Day 48 and 111, respectively). Two infants received risdiplam after 3 months of age. One infant was symptomatic at treatment initiation. Post-treatment evaluations showed ongoing motor milestone achievements. Conclusions: SMA incidence in Alberta during 2022-2024 was 8.2 (95%CI: 3.5-12.8) cases per 100,000 live births. Efforts continue to shorten age at treatment initiation, especially for those with two SMN2 copies, and to promote uniform coverage for 4-copy cases.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.002 |
| Insufficient payload (model declined to judge) | 0.006 | 0.002 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".