Antecollis and Levodopa-Responsive Parkinsonism Are Late Features of Dravet Syndrome (P3.241)
Bibliographic record
Abstract
Objective: This study described the findings of motor assessments in an adult group of patients with Dravet Syndrome. Background: Dravet syndrome is one of the most severe epileptic encephalopathies. In addition to seizures, cognitive disabilities and gait disturbances are common features. Methods: Adults with clinical and genetic diagnosis of Dravet Syndrome were included. Previous exposure to antipsychotics was an exclusion criterion. A modified Unified Parkinson’s Disease Rating Scale was used. Results: Out of 14 patients, 12 entered the study (mean age: 27.9 ± 7.9). Eight patients (66[percnt]) fulfilled the diagnostic criteria for antecollis, whose severity significantly correlated with patients’ age (ρ = 0.59, p = 0.04). Three patients presented camptocormia, and one of them also had Pisa syndrome. Eleven out of the 12 (91[percnt]) patients presented with parkinsonism, which significantly correlated with patients’ age (ρ = 0.61, p = 0.03). Nine out of 12 (75 [percnt]) cases had gait abnormalities. Postural reflexes were impaired in all the patients with parkinsonism. Levodopa was offered to the four most affected cases; only two have received the medication, and both had significant improvement of slowness and rigidity. Conclusions: We describe for the first time that the majority of adult patients with Dravet Syndrome have features of parkinsonism and antecollis. Meaningful improvement after levodopa trial was seen. These findings expand the phenotype of a disease mainly known by its severe epilepsy and cognitive delay to include drug-responsive movement abnormalities. Knowledge of levodopa responsiveness may greatly diminish the burden of care of such complex patients.
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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 | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 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".