Observed Frequency and Characteristics of Hearing Loss in Osteogenesis Imperfecta

Abstract

Background: Osteogenesis imperfecta (OI) is a rare group of genetic disorders affecting connective tissue, with consequent bone fragility, frequent fractures and skeletal deformity. Depending on the type, patients can have blue sclera, dentinogenesis imperfecta, and hearing loss. Aim: To determine the frequency, type and audiometric characteristics of hearing loss in a group of patients with OI. Material and Methods: A prospective cohort study was completed. A clinical and diagnostic hearing evaluation with tympanometry, acoustic stapedial reflex, pure-tone and speech audiometry were performed. Results: Thirty patients completed the study; mean age of 22 years (range 6-63 years). Sixty seven percent had a type I OI. Overall, nine (30%) patients had hearing loss (15/60 ears). Of these, six had bilateral hearing loss. Of the 15 affected ears, six showed conductive hearing loss, five sensorineural hearing loss, and four mixed hearing loss. Patients with hearing loss were older than patients with normal hearing. Only one pediatric patient developed hearing loss. Of the ears without hearing loss, 13% did not have an acoustic stapedial reflex. Conclusions: In this group of patients with OI, 30% had hearing loss and among those ears with normal hearing, 13% did not have an acoustic stapedial reflex. Patients with OI should be monitored for hearing loss.

Morphological variability in the inner ear of mice with osteogenesis imperfecta

“…Most research on OI-related hearing pathologies has focused on the middle ear and has identified alterations in bone makeup and structure of the ossicular chain (Santos et al, 2012). The stapes is the key ossicle affected by OI in humans and shows increased porosity of the crura (bend) and increased otosclerotic fixation of the stapedial footplate in those affected with OI (Waissbluth et al, 2020). Less is known about the pathological state of the cochlea, although increased bone density and porosity have been observed in the surrounding otic capsule of human patients (Swinnen et al, 2012) and mice with OI (de Paolis et al, 2021).…”