Evaluating Patients With Mucopolysaccharidosis Type <scp>III</scp> : A Scoping Review on Diagnostic and Follow‐Up Approaches
Bibliographic record
Abstract
BACKGROUND: Mucopolysaccharidosis type III (MPS III) is a rare lysosomal storage disease with systemic complications. This scoping review aimed to synthesise evidence regarding methods to diagnose and monitor MPS III. METHODS: We searched 10 databases for English and Spanish citations published from 2017 to 2022. Our study focused on human-based research that reported methods to diagnose and monitor MPS III, including experimental, quasi-experimental, observational studies, reviews, and guidelines. We followed PRISMA-ScR guidelines for screening and data extraction. Descriptive statistics and qualitative synthesis were used for analysis. RESULTS: We included 35 eligible articles. Most studies were conducted in Europe and Central Asia (17/35, 48.6%) and constituted case reports (19/37, 51.4%). Clinical symptoms were reported in 30 articles and predominantly pertained to the nervous system (25/30, 83.3%), including intellectual disability (19/30, 63.3%), movement incoordination (17/30, 56.6%), and behavioural issues (16/30, 53.3%). Diagnostic methods (23/35, 65.7%) featured genetic testing and biochemical assays, including GAG measurement in urine. Brain MRI was the most recorded imaging study (11/20, 55.0%), while electrographic studies (10/35, 28.5%) encompassed electrocardiogram (5/10, 50%), electroencephalogram, and audiometry (3/10, 30% each). Scales and questionnaires (8/35, 22.8%) were reported, with the Bayley Scales of Infant Development being the most described (4/8, 50%). CONCLUSION: Our study comprehensively overviews the contributions of diagnostic and monitoring methods for MPS III. Our findings can guide clinicians in providing evidence-based care for this rare disease.
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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 | 0.006 | 0.142 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.004 | 0.000 |
| Bibliometrics | 0.002 | 0.003 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.000 | 0.004 |
| 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".