The Epileptology of Aicardi–Goutières Syndrome: Electroclinical Phenotype and Clinical–Radiological Correlation
Bibliographic record
Abstract
Objectives: Aicardi–Goutières syndrome (AGS) is a monogenic interferonopathy. Most individuals affected by AGS show various degrees of neurological symptoms. Although at least a quarter of patients with AGS experiences epileptic seizures, their phenotypic and electrophysiological characterizations remain elusive. To encompass this lack of knowledge, we collected patients with established diagnosis of typical AGS and detailed electroclinical data with the aim to characterize epilepsy phenotypes and electroencephalographic patterns and identify possible correlations between them and clinical, genetic, and neuroradiologic features. Content: Methods: This is a multicenter retrospective study. We enrolled 27 patients with established diagnosis of typical AGS, adequate EEG study, and contemporary neuroimaging. Medical records, EEGs, and MRI/CT findings were reviewed for each patient. In particular, 63 EEGs were independently and blindly reviewed by three board‐certified pediatric epileptologists. Results: Epilepsy is present in 37% (10 out of 27 patients), mean age at seizure onset was 9.5 (range: 1–36) months. Semiology was mainly represented by epileptic spasms and focal seizures. Significant correlation was found between presence of epilepsy and calcification severity ( p = 0.016) and presence of startle reactions ( p = 0.05). Concerning EEG pattern, background activity was disrupted in 85%. Organization was rated as disorganized or markedly disorganized in 73% of cases. Both background activity and EEG organization disruption appeared to be statistically related to high abnormality of MRI signal intensity ( p = 0.028 and 0.022). Disrupted EEG organization was also significantly related to microcephaly ( p < 0.001). Physiological organization was found to be more adequate in sleep (87%) than in wakefulness (38%). Focal slow activity was recorded in more than one third of cases. Fast activity was found more frequently in waking (78%), rather than in sleep (50%), either generalized or with frontal localization. Interictal epileptiform discharges (IEDs) were present in 33% of awake and in 45% of sleep recordings. Significant correlation was found between presence of IEDs during sleep and epileptic seizures ( p = 0.008). Conclusion: This is the first study providing detailed epileptological description and its correlation with clinical and neuroradiological data. Hallmarks of EEG pattern in our sample are represented by organization disruption, focal slow and fast activity, presence of IEDs both in patients with and without epilepsy. Epilepsy and EEG pattern are at least partly related to neuroradiologic findings, but their complex anatomo-electro-clinical basis still needs to be fully elucidated. Publication History Article published online: 16 March 2022 © 2022. Thieme. All rights reserved. Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany
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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 | 0.000 | 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) | 0.002 | 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".