P.057 Solely neonatal hypoxic ischemic encephalopathy or more? A study examining genetic predisposition towards a clinical picture of HIE
Bibliographic record
Abstract
Background: Neonatal hypoxic ischemic encephalopathy (HIE) is a clinical phenomenon, that often results from pre or perinatal reduced cerebral blood flow and/or hypoxemia. However, in some cases, neonates present with HIE without significant risk factors or have an unusual clinical course. With the advent of advanced genetic testing, we aimed to explore if such infants had genetic risk factors predisposing them to an HIE-phenotype. Methods: We reviewed 206 charts of infants meeting local protocol criteria for moderate to severe HIE at Level III NICU’s in Calgary, Alberta. Of these, 27 patients had genetic testing such as microarray, whole exome sequencing, or gene panels. Results: Six/twenty-seven patients had genetic mutations; two CDKL5 mutations (protein kinase), one CFTR mutation (cystic fibrosis), one PDH deficiency, one CYP21A2 mutation (congenital adrenal hyperplasia), and one ISY1 (VUS; pre-mRNA splicing). Two patients had noted difficult deliveries and four had minor complications, but all were out of keeping with the severity of presumed HIE. Conclusions: This preliminary study demonstrates a possible association between genetic co-morbidities and predisposition towards HIE in the context of a relatively uneventful pre/perinatal course. Earlier identification of genetic etiology, recognized by a discrepancy between risk factors and clinical presentation, could aid in treatment decisions and outcome prognostication.
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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 | 0.003 |
| 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 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.006 | 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".