Spasms in children with definite and probable mitochondrial disease*
Bibliographic record
Abstract
The diagnosis of mitochondrial encephalomyopathies is complex and a system for classification of the diagnosis as definite, probable, and possible has been proposed. The objective of this study was to explore the spectrum of epileptic disorders associated with probable and definite mitochondrial disease in children using this classification system. The patient population with mitochondrial disease and epilepsy was selected from a tertiary care children's hospital. Interictal electroencephalograms and video-EEG recordings were used to characterize seizure types. Ten children fulfilled the criteria for probable or definite mitochondrial disease and had epilepsy. Four had siblings with a similar clinical phenotype. Spasms were the most common seizure type and were the initial seizure type in seven patients and two siblings. Four patients had only partial seizures, with or without generalization, and one patient had seizures that were difficult to classify. Blood lactate concentrations were elevated consistently in patients with partial seizures alone but were occasionally normal in children with spasms. Spasms were the most common presenting seizure type in children with probable and definite mitochondrial disease.
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 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".