Assessment of hearing and speech comprehension - preventive examinations for children and adolescents with osteogenesis imperfecta

In children, acquired hearing loss typically occurs as a result of genetic disorders, ototoxic drugs and infections. It has also been noted as a serious complication of osteogenesis imperfecta (OI), a genetic connective tissue disorder that mainly arises from disorders of collagen type 1 synthesis; its other symptoms include multiple fractures and skeletal deformities, blue sclera, enamel hypoplasia and tooth fragility. To date, most studies on hearing loss in patients with OI have focussed on the adult population, due to the low occurrence among children. The aim of the study was to assess the level of hearing and speech comprehension in children and adolescents diagnosed with OI compared to a group without OI and without otological problems. The study included a total of 103 children aged 5–17 years (54 boys and 49 girls). The patients were divided into two groups for the purpose of the study. Group I comprised 53 patients diagnosed with osteogenesis imperfecta (OI) type I and III, who were hospitalised at the Department of Paediatrics, Neonatal Pathology and Metabolic Bone Diseases between 2019 and 2025. Group II comprised 50 children who visited the Department of Paediatric Otorhinolaryngology for reasons unrelated to hearing disorders; this was used as the control group. A comprehensive auditory evaluation was conducted for all patients, encompassing an otoscopic examination, pure tone audiometry, speech audiometry, immittance audiometry, and otoacoustic emission (OAE) testing. Compared to controls, Group I exhibited significantly poorer hearing thresholds (dB—decibel) in pure tone audiometry (PTA) at low and medium frequencies (250, 500, 1000, 2000 Hz—hertz) for both the right and left ears ( p < 0.05). Similarly, patients with OI type III demonstrated a higher hearing threshold (dB) compared to type I ( p < 0.05). Immittance audiometry revealed a smaller ear canal volume in Group I compared with controls ( p < 0.05). The tympanic membrane was found to have lower compliance in OI type III compared to type I ( p < 0.05) for both the right ear (RE) and left ear (LE). Group I also exhibited a higher speech detection and reception threshold compared to the control group ( p < 0.05). In patients diagnosed with osteogenesis imperfecta (OI), the onset of hearing impairment may manifest at lower frequencies and be accompanied by a smaller external canal volume and reduction in tympanic membrane compliance. Pure tone audiometry, immittance audiometry and speech audiometry should be considered integral components of any comprehensive hearing monitoring programme. Children with OI may encounter difficulties in comprehending verbal communication in challenging acoustic environments. In such cases, preventative measures, systematic monitoring procedures and early intervention strategies should be considered to enhance mental, emotional and educational development, and quality of life, in children with OI.