Aicardi Syndrome: Long-term Evolution (P2.187)
Bibliographic record
Abstract
OBJECTIVE/BACKGROUND: Aicardi syndrome (AS) is a disorder characterized by the triad: corpus callosum agenesis, infantile spasms and chorioretinal lacunae. The long-term evolvement of AS is severe due to high early mortality, considerable morbidity and poor developmental outcome. Few adult cases have been reported. Here we review two adult cases of AS, aged 24 and 27, their varying clinical spectrums and long-term evolution. DESIGN/METHODS: We conducted a retrospective chart review on patients diagnosed with AS examining their psychomotor development, family history, seizure frequency, seizure classification, current antiepileptic drug (AED) use, MRI findings, continuous video-EEG recordings containing seizures, systemic problems and overall treatment. Out of 1600 patients seen in our Epilepsy Clinic, we identified two patients with confirmed clinical diagnosis of AS. RESULTS: Both patients diagnoses at a few months of age were based upon the classic triad of infantile spasms, corpus callosum agenesis and chorioretinal lacunae. Infantile spasms began six weeks after delivery. Neither patient has any family history of similar illness. Both patients experience multiple seizure types daily and take more than three AEDs. Seizure control has moderately improved with medication. Each patient exhibits some form of psychomotor impairment and varying degrees of mental retardation. Medical problems these patients face are bladder/bowel retention and severe hypoxemia during tonic-clonic seizures. CONCLUSIONS: We present two adult Aicardi cases, the clinical spectrum and long-term evolution. Although there have been numerous case studies and literature reviews on infant and child Aicardi cases, few adult cases have been reported as not many patients live to adulthood. The long-term evolution of Aicardi syndrome is severe. Seizure frequency and severity do not improve as the patients age. However other signs of neurodegeneration (such as those seen
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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 | 0.001 |
| 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 | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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".