Sleep‐related breathing in children with mucopolysaccharidosis
Bibliographic record
Abstract
BACKGROUND: The mucopolysaccharidoses (MPSs), a group of genetic lysosomal storage disorders, are associated with significant morbidity. Secondarily to specific associated anatomical abnormalities, MPS is associated with sleep disordered breathing (SDB), specifically obstructive sleep apnoea (OSA) that may confer additional morbidity. Few studies have examined SDB in children with MPS using full polysomnography (PSG) and thus the exact prevalence and severity of SDB is unknown. Further, successful treatments for SDB in this population have not been explored. OBJECTIVES: This study evaluated both SDB and the efficacy of treatments offered to children with MPS using PSG data. PATIENTS AND METHODS: A retrospective chart review was conducted on all children with MPS and a history of suspected OSA who were referred to the Hospital for Sick Children, Toronto. Both baseline and follow up treatment PSG data were analysed. PSG data recorded included obstructive apnoea-hypopnoea index (OAHI) and central apnoea index (CAI). RESULTS: Fourteen patients (10 male) underwent a baseline PSG. Three of 14 children on ERT were excluded from the main analyses. The median (range) baseline parameters of the population (n = 11) were recorded. The age was 5.2 years (0.8-17.8) and the body mass index (BMI) was 19.9 (13.7-22.2). The OAHI was 6.6 (0.0-54.8); the CAI was 0.6 (0.0-2.6). Seven of 11 (64%) had evidence for OSA and 3/7 children were classified as having severe OSA (OAHI > 10). Of these, 5/7 children underwent treatment for OSA with 3/5 children showing a significant reduction in their OAHI. Further, the 2 patients on ERT therapy with OSA were also both successfully treated. CONCLUSIONS: Children with MPS have a high prevalence of significant OSA and thus should be carefully screened for OSA using full polysomnography and treated accordingly.
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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) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| 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".