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Epidemiology of Eustachian tube dysfunction and related otologic diagnoses among children with achondroplasia
Ian Dorney1, Todd Otteson2, David C Kaelber3
1Case Western Reserve University School of Medicine, Cleveland, OH, USA.
Insights
Children with achondroplasia have a significantly higher risk of Eustachian tube dysfunction and related ear conditions. Close monitoring for these otologic issues is recommended for affected children.
Area of Science:
- Pediatric Otolaryngology
- Skeletal Dysplasias
- Epidemiology
Background:
- Achondroplasia is a common skeletal dysplasia with potential craniofacial implications.
- Eustachian tube dysfunction (ETD) and associated otologic conditions are prevalent in pediatric populations.
- The specific risk of ETD and otologic diagnoses in children with achondroplasia remains under-investigated.
Purpose of the Study:
- To determine the prevalence of diagnosed Eustachian tube dysfunction (ETD) in children with achondroplasia.
- To compare the incidence of related otologic diagnoses in children with achondroplasia versus a control group.
- To identify specific otologic conditions associated with achondroplasia in pediatric patients.
Main Methods:
- Utilized the TriNetX Analytics Network, a large US federated electronic health record database.
- Queried for patients aged 18 years or younger with achondroplasia.
- Analyzed records for diagnosed Eustachian tube dysfunction and specified otologic diagnoses, comparing to a control cohort.
Main Results:
- 17.27% of children with achondroplasia (n=2,195) had diagnosed Eustachian tube dysfunction, an 8.65-fold increased risk compared to controls (n=12,818,655).
- Children with achondroplasia showed significantly higher risks for otitis media (RR: 2.21), tympanic membrane retraction (RR: 7.29), cholesteatoma (RR: 6.35), and conductive hearing loss (RR: 12.15).
- Elevated risks persisted even after excluding patients with cleft palate, suggesting a direct link to achondroplasia's underlying pathophysiology.
Conclusions:
- Children with achondroplasia face a substantially elevated risk for Eustachian tube dysfunction and associated middle ear pathologies.
- Atypical craniofacial anatomy in achondroplasia likely contributes to Eustachian tube dysfunction and subsequent otologic conditions.
- Recommend vigilant monitoring of children with achondroplasia for signs of Eustachian tube dysfunction and related middle ear disease.
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.
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