听力和言语理解评估——成骨不全儿童和青少年的预防性检查

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中文摘要

引言： 在儿童中，获得性听力损失通常由遗传性疾病、耳毒性药物和感染引起。它也被认为是成骨不全症（OI）的一种严重并发症，这是一种主要源于1型胶原合成障碍的遗传性结缔组织病；其其他症状包括多发骨折和骨骼畸形、蓝巩膜、釉质发育不全和牙齿脆弱。迄今为止，大多数关于OI患者听力损失的研究集中于成人人群，因为儿童中发生率较低。本研究旨在评估被诊断为OI的儿童和青少年的听力和言语理解水平，并与无OI且无耳科问题的对照组进行比较。
材料和方法： 研究共纳入103名5-17岁儿童（54名男孩和49名女孩）。为研究目的将患者分为两组。第I组包括53名被诊断为成骨不全症（OI）I型和III型的患者，他们于2019年至2025年间在儿科、新生儿病理和代谢性骨病科住院。第II组包括50名因与听力障碍无关的原因就诊于儿科耳鼻咽喉科的孩子；该组用作对照组。对所有患者进行了全面的听力学评估，包括耳镜检查、纯音测听、言语测听、声导抗测听和耳声发射（OAE）测试。
结果： 与对照组相比，第I组在纯音测听（PTA）中低和中频（250、500、1000、2000 Hz-赫兹）的右耳和左耳听力阈值（dB-分贝）显著更差（p < 0.05）。同样，OI III型患者相比I型表现出更高的听力阈值（dB）（p < 0.05）。声导抗测听显示第I组相比对照组耳道容积更小（p < 0.05）。在OI III型相比I型中，右耳（RE）和左耳（LE）的鼓膜顺应性均更低（p < 0.05）。第I组相比对照组还表现出更高的言语检测和接受阈值（p < 0.05）。
结论： 在被诊断为成骨不全症（OI）的患者中，听力损害的起病可能表现在较低频率，并伴有外耳道容积减小和鼓膜顺应性降低。纯音测听、声导抗测听和言语测听应被视为任何全面听力监测计划的组成部分。OI儿童可能在具有挑战性的声学环境中遇到言语交流理解困难。在这种情况下，应考虑预防措施、系统监测程序和早期干预策略，以促进OI儿童的心理、情感和教育发展以及生活质量。

英文摘要

INTRODUCTION: 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.
MATERIALS AND METHODS: 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.
RESULTS: 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).
CONCLUSIONS: 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.