Outstretched Index Finger - A Pointer is Peculiar Behaviour Characteristic of Angelman Syndrome in Adults – A Case Series Study
Bibliographic record
Abstract
Objective: To describe a behavioural feature, the outstretched pointing (and shaking) index finger, as a clue to the clinical diagnosis of Angelman syndrome (AS) in adults. Methods: A case series, consisting of 43 adult individuals with the clinical diagnosis of AS, approved by genetic testing is presented. In 16/43 patients the clinical diagnosis was made by the author, mostly due to behavioural signs, including the pointing gesture, which he had increasingly noticed as a behavioural key feature in his adult patients with AS. Conclusion: Pointing with the outstretched index finger is a communicative gesture frequently seen in adult persons with AS. Its absence is most likely due to more limited motor and/or intellectual functions, in phenotypes caused by deletions of 15q11-13 respectively. It can be seen as a clinical sign that significantly contributes to the diagnosis in adulthood.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| 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 | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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 teacher head, 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".