Clinical and Diagnostic Profile of Agenesis of the Corpus Callosum
Why this work is in the frame
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Bibliographic record
Abstract
This study reports the clinical profile, etiologies identified, and outcomes for a consecutive series of children with partial or complete agenesis of the corpus callosum. Children with agenesis of the corpus callosum were identified in a comprehensive computerized database of all patients seen in a single pediatric neurology practice over an 11-year interval. Medical records were then systematically reviewed. Twenty-four children with agenesis of the corpus callosum were identified of a total of 6911 children in the database (0.35%). Fifteen were male (62.5%); 9 (37.5%) had presented antenatally, 6 (25%) neonatally, and 9 (37.5%) postneonatally. Eight (33.3%) were microcephalic, 12 (50%) were dysmorphic, 11 (45.8%) had coexisting epilepsy, and 9 (37.5%) had a cerebral palsy variant. Investigations revealed an etiology in 11 (45.8%): 3 chromosomal abnormality, 3 metabolic disorder, 3 cerebral dysgenesis, and 2 genetic syndromes (Aicardi, Andermann). Outcomes identified included normal or mild developmental delay in 7 (29.2%) and moderate-severe developmental delay in the remaining 17 (70.8%). Factors predictive of successful etiologic determination on bivariate analysis included moderate-severe developmental delay or associated cerebral dysgenesis. Factors predictive of eventual developmental outcome included microcephaly, coexisting epilepsy, cerebral palsy, or cerebral dysgenesis. A spectrum of clinical presentations, underlying etiology, and developmental outcome is thus apparent in children with agenesis of the corpus callosum. An underlying etiology can be identified in slightly less than half of cases, and a normal or mildly delayed outcome is apparent in slightly less than a third. Factors predictive of identifying an underlying etiology or eventual outcome can be identified.
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Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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 it