Department of Otolaryngology-Head and Neck Surgery, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Center for Children's Surgery, Children's Hospital Colorado, Aurora, Colorado, USA.
Genet Test Mol Biomarkers. 2023 Jan;27(1):12-17. doi: 10.1089/gtmb.2022.0171.
Many indigenous peoples are at elevated risk for otitis media, however there is limited information on hearing loss due to OM in these communities. An Indigenous Filipino community that has previously been described with an elevated prevalence of OM that is due to rare variants and a common variant underwent additional phenological testing. In this study, we describe the audiologic profiles in - and -related otitis media and the validity of otoscopy and genotyping for and variants in screening for otitis media and hearing loss. We analyzed and genotypes together with demographic, otologic and audiologic data from tympanometry and hearing level assessments of 109 indigenous individuals. We confirmed previous findings of a spectrum of nonsyndromic otitis media as associated with variants. and variants were associated with high-frequency hearing loss at 4000 Hz. As expected, young age was associated with flat tympanograms, and eardrum perforations due to chronic otitis media were associated with severe-to-profound hearing loss across frequencies. Adding or genotypes improved the validity of otoscopy as a screening test to rule out moderate-to-profound hearing loss. Continued multi-disciplinary management and audiologic follow-up using tympanometry and screening audiometry are needed to document and treat otitis media and prevent permanent hearing loss in the indigenous community.
许多原住民群体患中耳炎的风险较高,但关于这些社区因 OM 导致的听力损失的信息有限。一个菲律宾原住民社区以前曾被描述为 OM 患病率较高,这是由于罕见的变异和常见的变异导致的。该社区进行了额外的表型测试。在这项研究中,我们描述了中耳炎和相关耳炎的听力学特征,以及耳镜检查和基因型分析在 OM 和听力损失筛查中的有效性。我们分析了 109 名原住民的鼓室图和听力水平评估的基因型以及人口统计学、耳科学和听力学数据,以确定与 和 变异相关的非综合征性中耳炎的表型。我们证实了先前发现的与 变异相关的一系列非综合征性中耳炎的存在。 和 变异与 4000Hz 的高频听力损失有关。正如预期的那样,年龄较小与平坦的鼓室图有关,而慢性中耳炎引起的鼓膜穿孔与各频率的重度至极重度听力损失有关。添加 或 基因型可提高耳镜检查作为排除中重度听力损失的筛查试验的有效性。需要继续进行多学科管理和听力测试随访,使用鼓室图和筛查听力计来记录和治疗中耳炎,防止原住民社区的永久性听力损失。