Deep Brain Stimulation for the Management of Seizures in MECP2 Duplication Syndrome. (P7.280)
Bibliographic record
Abstract
OBJECTIVE/BACKGROUND: MECP2 duplication (MECP2-dup) leads to cognitive delay, minimal or absent speech and dysmorphic features. Here we describe clinical features of an adult with severe seizures of multiple types, and their management challenges, including response to deep brain stimulation (DBS). DESIGN/METHODS: developmental delay was recognized at 9 months. At 14 years of age he began experiencing complex partial, atonic, tonic, secondarily generalized tonic-clonic, and eating reflex seizures. Several antiepileptic drugs failed to control his seizures. At the age of 23 years his monthly seizure frequency was of 125. The patient then received DBS to the anterior thalamic nuclei. RESULTS: Treatment with DBS caused 65% decrease in seizure frequency. Despite a significant seizure improvement, his cognitive and motor skills continue to deteriorate. Frequent respiratory infections are the most severe and life-threatening events. CONCLUSIONS: MECP2-dup is a condition rarely seen/diagnosed in adults. Almost 40% of all boys with MECP2-dup that were reported until 2009 died before completing 25 years of age. This case shows that cognitive and motor dysfunction continue to deteriorate as patients age. It also shows that seizures may be extremely difficult to treat and DBS may improve seizure control. As opposed to some other genetically determined severe epilepsies such as Dravet syndrome, seizure frequency and severity do not improve in adulthood.
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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 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 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".