Gastrointestinal Issues in <scp>CHARGE</scp> Syndrome: Prevalence, Patterns, and Constipation‐Related Quality of Life
Bibliographic record
Abstract
Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL). Standardized questionnaires were used to collect data on GI symptoms, feeding, and QoL. Fifty participants: M = 18, F = 31, NB = 1, ages ranged 2-46 years. (mean 16.2). GI issues (64%, n = 32) and constipation (48%, n = 24) were frequent and more prevalent in females. Constipation was linked to greater GI comorbidities and lower QoL, with PedsQL GI Symptoms Scale Scores of 56.0 versus 73.1 (p = 0.04). Tube-fed participants were younger (mean 11.7 years, range 2-38) than orally fed participants (mean 18.7 years, range 2-46, p = 0.02) and had lower Pediatric Assessment Scale for Severe Feeding Problems scores (means 16.9 vs. 35.1, p < 0.00001). Younger participants experienced more varied GI issues while older ones primarily dealt with constipation. Early and ongoing GI specialist involvement is crucial to address the often-overlooked GI symptoms in CHARGE syndrome. We also explored decreased gut motility as a potential cause of these issues.
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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 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 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".