Characterization of hearing loss in pediatric patients with osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a common heritable disorder affecting type 1 collagen. The sequelae of OI vary, but hearing loss is a significant complication with 46-58% of patients having some degree of hearing loss. Previous studies have suggested patients with OI may have conductive, sensorineural, or mixed hearing loss. Majority of these studies focus on the adult population. Identify a relationship between OI and hearing loss in the pediatric population. 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 a diagnosis of OI. Patients in this group with diagnosis of sensorineural, conductive, or mixed hearing loss were recorded. Patients with diagnoses of congenital cytomegalovirus, congenital inner ear malformations, and noise-induced hearing loss were excluded from analysis. Out of 3256 patients 18 years old or younger with OI, 10.07% (95% CI: 9.06-11.16) had a history of any form of hearing loss, 5.71% (95% CI: 4.94-6.57) had conductive hearing loss, 3.01% (95% CI: 2.45-3.66) had sensorineural hearing loss, and 1.35% (95% CI: 0.98-1.81) had mixed hearing loss. Relative risks for diagnosis of any type of hearing loss, conductive hearing loss, sensorineural hearing loss, and mixed hearing loss were calculated: 5.90 (95% CI 5.32-6.53), 5.08 (95% CI 4.42-5.84), 6.18 (95% CI 5.09-7.51), and 13.86 (95% CI 10.33-18.59) respectively. This study is the largest to date that describes a relationship between OI and conductive, sensorineural, and mixed hearing loss. Pediatric patients with OI are almost five times as likely to have any type of hearing loss. There was a significant increased risk in each subgroup, but conductive hearing loss was the most common for hearing loss in children with OI. The highest risk subtype when compared to controls was mixed hearing loss.