Mucopolysaccharidosis II, IV-A and VI: First Colombian Neuropsychological Characterization
Bibliographic record
Abstract
The Mucopolysaccharidosis [MPS] are a group of orphan or rare genetic diseases characterized by lysosomal storage disorders which are recognized by bone malformations and neuropsychological implications that have not been studied so far. For this reason, the first cross-sectional descriptive study of neuropsychological nature was conducted on variants of the disease, Hunter Syndrome [MPS II], Morquio A Syndrome [MPS IV A] and Maroteaux-Lamy syndrome [MPS VI] in 21 children and adolescents aged 3 to 19 years old, at the Colombian Association of Patients with Lysosomal Storage Diseases [ACOPEL, for its Spanish acronym] in Bogotá, Colombia. Results indicate that for the different types of MPS tested is not easy to make a neuropsychological characterization and generalize these results to other populations. However, MPS type II shows moderate to severe cognitive deficit with a compromise in psychomotor development. Morquio A presents average intelligence, and MPS type VI points to deficits partially related to sensory impairment, implying significant differences between them. It is important to continue carrying on this type of studies to achieve a better classification of these diseases according to their cognitive functioning from the neuropsychological perspective.
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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 | 0.002 |
| 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 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".