Prevalence of Dysautonomic Symptoms in <scp>CHARGE</scp> Syndrome: A Pilot Study of 25 Individuals With <scp>CHARGE</scp> Syndrome
Bibliographic record
Abstract
CHARGE syndrome is a heterogeneous genetic disorder with an evolving phenotype, particularly in adults. This study examined whether dysautonomic symptoms are common in adolescents and adults with CHARGE syndrome. Adolescents and adults with CHARGE syndrome completed a CHARGE-specific checklist and modified items from COMPASS-31 with the cardiovascular items from the ASP to assess dysautonomic symptoms. Participants were 25 individuals (20 female, 5 male), aged 12-33 years (mean = 21.3 years), with clinically confirmed diagnoses, 16 of whom had a CHD7 mutation. Dysautonomic symptoms were common: 50%-60% reported fatigue, heat intolerance, constipation, nausea, and headaches; 40%-50% reported postural tachycardia, tachycardia, dyspnea, weakness, exercise intolerance, and anxiety. These rates appear at a high frequency. A detailed case study of one participant is included in the supplemental material. Findings suggest dysautonomia may be prevalent in individuals with CHARGE syndrome and highlight the need for greater awareness of symptoms and triggers. Interventions such as vagal nerve stimulation may help restore autonomic balance and improve 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 | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 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 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".