Epidemiology of Eustachian tube dysfunction and related otologic diagnoses among children with achondroplasia.

Objective: To investigate the prevalence of diagnosed Eustachian tube dysfunction and related otologic diagnoses among children with achondroplasia as compared to a control population.

Methods: The TriNetX Analytics Network, a federated health research network that aggregates the de-identified electronic health record data of over 78 million patients across the United States, was queried for patients 18 years old or younger with achondroplasia. Patients in this group with any occurrence of diagnosed Eustachian tube dysfunction or specified otologic diagnoses were recorded and reported.

Results: Out of 2,195 patients 18 years old or younger with diagnosed achondroplasia, 379 (17.27%, 95% CI: 15.71-18.91) had a diagnosis of Eustachian tube dysfunction with an 8.65 (95% CI: 7.89-9.48) times higher risk than children without achondroplasia (n = 12,818,655). Children with achondroplasia also had higher risks for diagnosed otitis media (RR: 2.21), tympanic membrane retraction (RR: 7.29), middle ear cholesteatoma (RR: 6.35), cleft palate (RR: 12.24), conductive hearing loss (RR: 12.15), and tympanostomy tube placement (RR: 9.71). Each increased risk was maintained when cleft palate patients were removed from the achondroplasia group.

Conclusion: Children with achondroplasia are at a significantly higher risk for diagnosed Eustachian tube dysfunction and related middle ear diagnoses. Atypical craniofacial anatomy among children with achondroplasia may play a role in the dysfunction of the Eustachian tube and thus the observed epidemiology of otologic conditions. Children with achondroplasia should be monitored closely for middle ear conditions and the constellation of symptoms related to a dysfunctional Eustachian tube.