Audiological findings in osteogenesis imperfecta.

BACKGROUND Osteogenesis imperfecta (OI) is an inherited bone and connective tissue disorder associated with the lifelong occurrence of frequent fractures following even mild trauma. Hearing loss is frequently reported in patients with OI. PURPOSE This investigation is a retrospective study of measurements of tympanometry, acoustic reflexes, and transient evoked otoacoustic emissions in a sample of patients with OI grouped according to age. The purpose of the study was to examine the relationship between the type of OI, age, and audiological findings in a sample of individuals with OI. RESEARCH DESIGN The study examined the correlation between audiometric measures, hearing loss of all types, and type of OI. STUDY SAMPLE Forty-one patients with OI were included in the study. The patients were divided into two groups for analysis: one group less than 20 years of age (n=21) and the other group aged 20 and over (n=20). RESULTS Hearing loss of all etiologies was observed in 62% of ears. Sensorineural or mixed hearing loss was observed in 41% and conductive hearing loss in 21% of ears. Results indicate that the younger patients with OI were subject to a greater risk of middle ear dysfunction associated with otitis media than is typical for children of comparable age. Tympanometric abnormalities associated with ossicular dysfunction were more often found in the older age group of patients. Hearing loss of all types was more prevalent in the older group of patients (88%) than in the younger patient group (38%). CONCLUSIONS Hearing loss was not uncommon regardless of age. Therefore, close audiological monitoring of patients with OI is recommended across the age spectrum.