Department of Child Health, University of Glasgow, Glasgow, G12 8QQ, Scotland, UK; Department of Otolaryngology, Royal Hospital for Children, 1345 Govan Road, Glasgow, G51 4TF, Scotland, UK.
Department of Surgery, University Hospital Ayr, Dalmellington Road, Ayr, KA6 6DX, Scotland, UK.
Int J Pediatr Otorhinolaryngol. 2024 Nov;186:112096. doi: 10.1016/j.ijporl.2024.112096. Epub 2024 Sep 7.
Hearing loss is common in people with osteogenesis imperfecta (OI), although exactly how common is unknown. The prevalence of hearing loss in children with OI has been reported to be anything from 0 to 77 %. Brittle Bone Society guidelines suggest that, unless there are ear symptoms, children with OI should have their hearing tested every three years starting at age three. There is limited evidence to support this recommendation. We postulate that annual hearing screening would be easier to manage and would have a worthwhile pick-up rate.
In March 2019 we began a programme of annual hearing screening for all children (ages 0-16) with OI. We collected data on age, genotype, otoscopy findings, tympanometry findings, audiometric test results and subsequent outcomes for the first five years of our programme (2019-2024).
Nineteen children with OI participated in the screening programme. Only one abnormality was found: a unilateral mild hearing impairment with a type B tympanogram, suggesting middle ear effusion. This was present in year 2 of the programme but resolved by year 3.
The screening programme has a low pickup rate (5 %) for new otological problems in the paediatric population. However, we believe that the low cost and small workload associated with the screening programme justifies continuing it until further conclusions can be drawn.
成骨不全症(OI)患者常发生听力损失,但其具体发病率尚不清楚。OI 患儿的听力损失发病率报道范围为 0 至 77%。脆性骨病协会指南建议,除非有耳部症状,否则 OI 患儿应从 3 岁起每 3 年进行一次听力测试。目前,该建议仅有有限的证据支持。我们推测,每年进行听力筛查更容易管理,且具有较高的检出率。
2019 年 3 月,我们开始对所有 OI 患儿(0-16 岁)进行年度听力筛查。我们收集了项目开展前 5 年(2019-2024 年)的年龄、基因型、耳镜检查结果、鼓室图检查结果、听力测试结果和后续结果的数据。
19 名 OI 患儿参与了筛查项目。仅发现 1 例异常:单侧轻度听力障碍,鼓室图为 B 型,提示中耳积液。该异常于项目开展的第 2 年发现,第 3 年时已消失。
该筛查项目对儿科人群中新发的耳部问题的检出率较低(5%)。然而,我们认为,该筛查项目的成本低、工作量小,因此有理由继续开展,直到得出进一步的结论。