C.4 Clinical, radiological, and etiological features in a cohort of 94 patients with schizencephaly
Bibliographic record
Abstract
Background: Schizencephaly is a congenital brain malformation involving a cleft in the cerebral hemisphere lined with abnormal gray matter with an estimated incidence of 1.5 per 100,000 live births. Methods: This study aims to characterize the radiological, etiological, and clinical features of schizencephaly, identifying factors predictive of patient outcomes. A retrospective cohort of 94 individuals, both adult and pediatric, was analyzed across four tertiary care centers. A neuroradiologist systematically reviewed imaging, while charts were reviewed for clinical features. Results: Several perinatal risk factors were identified, including young maternal age and prenatal infections. However, genetic testing yielded only one pathogenic COL4A1 mutation. MRI findings showed frequent additional malformations, including those in the pituitary, corpus callosum, and fornix. Clinical characteristics included neurodevelopmental delay (71.6%), seizures (50.0%), and motor impairments (53.3%). Outcomes were heterogeneous, with bilateral and open-lip clefts associated with more severe developmental delays, while seizure rates were comparable across subtypes. Conclusions: The complexity of schizencephaly is highlighted in the largest cohort reported with high rates of seizures, neurodevelopmental delays, and motor impairments, but outcomes varied widely based on imaging features, underscoring the importance of individualized management. The low yield of genetic findings emphasizes prenatal environmental risk factors as etiological contributors.
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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 | 0.000 | 0.002 |
| 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 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 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".