Morbidities and comorbidities associated with optic nerve hypoplasia and septo‐optic‐pituitary dysplasia
Bibliographic record
Abstract
Abstract Aim To quantify optic nerve hypoplasia (ONH) and septo‐optic‐pituitary dysplasia (SOD) morbidities and comorbidities. Method A retrospective population‐based study with a case–control design was undertaken using administrative health data from Manitoba, Canada. Cases were 124 patients with ONH or SOD (70 males, 54 females; age range 6 months–36 years 8 months [mean 13 years, SD 7 years 2 months]) diagnosed from 1990 to 2019, matched to 620 unrelated population‐based controls (350 males, 270 females; age range 0–36 years 8 months [mean 12 years 5 months, SD 7 years 2 months]) on birth year, sex, and area of residence. Additionally, 76 cases with ONH or SOD (46 males, 30 females; age range 2 years 5 months–36 years 8 months [mean 13 years 11 months, SD 7 years 3 months]) were matched one‐to‐one with sibling controls (40 males, 36 females; age range 7 months–33 years 1 month [mean 11 years 8 months, SD 7 years 3 months]). We used χ2 or Fisher's exact tests to test for differences in prevalence in morbidities and comorbidities between cases and controls; odds ratios (ORs) with 95% confidence intervals (CIs) were estimated. Cox proportional hazards models were used to test for differences in subgroups of cases; hazard ratios and 95% CIs were estimated. Results Visual impairment and visual impairment with hypopituitarism were core morbidities associated with ONH and SOD cases respectively compared to unrelated controls (OR = 58.6, 95% CI = 22.5–152.5; OR = 243.4, 95% CI = 32.9–1799.0 respectively). Developmental delay or intellectual disability (OR = 6.9, 95% CI = 3.3–14.4), autism spectrum disorder (OR = 4.0, 95% CI = 2.0–8.3), epilepsy (OR = 14.9, 95% CI = 6.1–36.5), cerebral palsy (OR = 40.9, 95% CI = 14.0–119.6), and mood or anxiety disorders (OR = 1.7, 95% CI = 1.0–2.8) were the comorbidities more common among cases with ONH and SOD. Cases matched to siblings showed similar results except for mood and anxiety disorders. Interpretation Visual impairment and visual impairment with hypopituitarism are the main morbidities in patients with ONH and SOD respectively, while developmental delay or intellectual disability, autism spectrum disorder, epilepsy, cerebral palsy, and mood or anxiety disorders are important comorbidities.
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
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".