Olfactory dysfunction in CHARGE syndrome: a systematic review of prevalence, assessment methods, and clinical correlates
Bibliographic record
Abstract
BACKGROUND: Olfactory dysfunction (OD) is an underrecognized feature of CHARGE syndrome (CS), often associated with CHD7 mutations and structural anomalies of the olfactory system. This systematic review examines the burden, assessment methods, and clinical correlates of OD in CS. METHODOLOGY: A systematic review was conducted in accordance with PRISMA guidelines and registered with PROSPERO (CRD420251040500). A comprehensive search of six databases up to May 2025 was performed. Two independent reviewers screened, extracted data, and assessed study quality. A narrative synthesis was performed. RESULTS: From 1,643 records, 16 studies met inclusion criteria. Most were retrospective cohort studies and employed clinical diagnostic criteria for CS, with a subset reporting CHD7 mutation data. OD was most frequently identified radiologically. Psychophysical testing and self/parent reports were less common. Neurodevelopmental delays, feeding/swallowing issues, and reduced quality of life were reported in association with OD, but causal relationships remain unclear. CONCLUSIONS: OD is highly prevalent in CS, often exceeding 80%, yet remains underrecognized. Radiologic imaging and electrophysiological techniques may be alternatives when psychophysical testing is not feasible. Future research should focus on validating paediatric-specific and developmentally appropriate olfactory assessments and integrating olfaction into quality-of-life frameworks. OD should be considered for inclusion in revised CHARGE diagnostic criteria.
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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 | 0.004 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.005 | 0.001 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.002 |
| 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".