Neuropsychological Phenotype in Wolf-Hirschhorn Syndrome
Bibliographic record
Abstract
The Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder that causes a range of intellectual disability from mild to severe. In this study, we used standard tools to psychometrically characterize the specific neuropsychological phenotype of WHS. We studied 57 individuals with WHS, ranging in age from 2.6 to 28.6 years representing 70% of the certified Italian WHS population. Results obtained by administering Griffiths’ Mental Developmental Scales and the Vineland Adaptive Behavior Scale revealed a typical WHS neuropsychological phenotype characterized by specific strengths and weaknesses. Despite their severe cognitive impairment, in both scales, patients showed better communication and social interaction skills compared to visuo-motor abilities. Results of our study could bring to the development of new and more effective treatments for individuals affected by WHS: based on neuropsychological phenotype description, it should be possible to design specific rehabilitation programs. These programs would then be aimed at improving rehabilitation protocols to optimize the developmental potential and personal independence of individuals with WHS and thus to improve their quality of life.
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| 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".