Central nervous system manifestations of tuberous sclerosis complex
Bibliographic record
Abstract
Objectives: To review the clinical and radiological correlation of the central nervous system manifestations of tuberous sclerosis complex (TSC). Methods: All patients under the age of 18 years with TSC seen at the Department of Pediatrics, Sidra Medicine, Doha, Qatar, between January 2003 and February 2021 were included in this retrospective study. Severity of epilepsy was determined using the early childhood epilepsy severity score (E-CHESS) tool. Results: The study sample included 38 patients (50% male), 8 (21%) of whom were native to Qatar. The median age at diagnosis was 4 (range: 0-72) months. A family history of TSC was present in 10 (26%) cases, while 33 (86%) patients had a TSC2 gene mutation. Common presentations included seizures (79%), rhabdomyoma (26%), and developmental delay (13%). On MRI scans, cortical tubers were seen in all patients, subependymal nodules in 37 (97%), and subependymal giant cell astrocytoma was diagnosed in 8 (21%) cases. A total of 30 children developed epilepsy, 9 of whom had favorable and 21 had unfavorable E-CHESS scores, and 6 required pharmaceutical management. A total of 13 children were diagnosed with autistic spectrum disorder and 12 with attention deficit hyperactivity disorder. Conclusion: Multidisciplinary management and further research is needed to optimize the care and quality of life of TSC affected individuals and their families.
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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) | 0.000 | 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) | 0.001 | 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".