Otologic Axis and Sleep-Disordered Breathing in Achondroplasia: Age-Structured Cohort Findings

Area of Science:

• Medical research
• Genetics and rare diseases
• Otolaryngology

Background:

• Achondroplasia is associated with significant ear-nose-throat (ENT) morbidity.
• Quantitative data and risk factors for ENT phenotypes in achondroplasia are not well-defined.

Purpose of the Study:

• To map ENT phenotypes in achondroplasia patients.
• To analyze prevalence, co-occurrence, age-related changes, and risk models for ENT conditions in achondroplasia.

Main Methods:

• Retrospective observational analysis of 83 patients (64 with achondroplasia).
• Dictionary mapping of "ENT complications" into five categories: otitis media, obstructive sleep apnea (OSA), Eustachian tube dysfunction (ETD), upper respiratory tract (URT), and extra-ENT.
• Statistical analysis including confidence intervals, Fisher's exact tests, Benjamini-Hochberg false discovery rate, and age-class summarization.

Main Results:

• Achondroplasia patients experienced higher rates of otitis media (51.6%) and OSA (28.1%) compared to non-achondroplasia patients.
• Otitis media frequently co-occurred with OSA (OR 4.97) and ETD (OR 7.25) in achondroplasia.
• An ENT-burden score effectively predicted the need for otologic and adenotonsillar interventions (AUC 0.83-0.93).

Conclusions:

• Achondroplasia presents a substantial ENT burden, primarily otitis media and OSA, with significant differences compared to the general population.
• Otitis media serves as a key clinical indicator for OSA and ETD in achondroplasia.
• A concise ENT-burden score can help prioritize interventions for affected individuals.