散发性和家族性小耳聋的听力损失概况:来自厄瓜多尔队列的临床见解

IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY
Fabricio González-Andrade, Fausto Coello, Edwin Andrade, Henry Vásconez
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引用次数: 0

摘要

背景:小耳症是一种外耳先天性异常,常因相关的耳道和中耳畸形而导致听力损失。虽然右耳显性和传导性听力损失有充分的文献记载,但很少有研究比较散发性和家族性病例之间的解剖学和听力学差异,特别是在代表性不足的人群中。目的比较厄瓜多尔一群散发性和家族性小耳畸形患者的临床、解剖学和听觉特征。方法对146例散发性和家族性小耳畸形患者进行横断面研究。通过结构化访谈收集人口统计、临床和风险因素数据。听力学评估包括听觉诱发电位、耳声发射、鼓室测量、纯音测听和语音测听,基于患者年龄和耳管通畅程度。统计学分析采用Mann-Whitney U检验和卡方检验(p < 0.05)。结果右耳受累发生率最高(45.45%)。3级是最普遍的,而4级仅在家族病例中观察到。传导性听力损失占多数(左耳74.67%,右耳83.33%)。虽然听力损失的类型和严重程度在两组之间没有显著差异,但家族性病例显示出更严重的损害趋势。耳声发射和镫骨反射在右耳更为常见。右侧的纯音感知和语音识别也受到了更大的损害。结论小耳聋最常见于右侧,并伴有传导性听力损失。家族性病例可能表现出更严重的特征。早期诊断和干预对于减轻发展后果至关重要,特别是在资源有限的环境中。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Hearing Loss Profiles in Sporadic and Familial Microtia: Clinical Insights From an Ecuadorian Cohort

Background

Microtia is a congenital anomaly of the external ear that often leads to hearing loss due to associated auditory canal and middle ear malformations. While right-ear predominance and conductive hearing loss are well-documented, few studies have compared anatomical and audiological differences between sporadic and familial cases, especially in underrepresented populations.

Objective

To compare the clinical, anatomical, and auditory characteristics of patients with sporadic versus familial microtia in an Ecuadorian cohort.

Methods

A cross-sectional study was conducted on 146 patients with microtia, classified as either sporadic or familial. Demographic, clinical, and risk factor data were collected through structured interviews. Audiological evaluations included auditory evoked potentials, otoacoustic emissions, tympanometry, pure-tone audiometry, and speech audiometry, based on patient age and canal patency. Statistical analysis included Mann–Whitney U and Chi-square tests (p < 0.05).

Results

Right-ear involvement was most common (45.45%). Grade 3 microtia was the most prevalent, while Grade 4 was observed exclusively in familial cases. Conductive hearing loss predominated (74.67% left ear, 83.33% right ear). Although no significant differences in hearing loss type or severity were found between groups, familial cases showed a trend toward more severe impairment. Otoacoustic emissions and stapedial reflexes were more frequently absent in right ears. Pure tone perception and speech recognition were also more impaired on the right side.

Conclusion

Microtia is most commonly right-sided and associated with significant conductive hearing loss. Familial cases may present with more severe features. Early diagnosis and intervention are essential to mitigate developmental consequences, particularly in resource-limited settings.

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来源期刊
Birth Defects Research
Birth Defects Research Medicine-Embryology
CiteScore
3.60
自引率
9.50%
发文量
153
期刊介绍: The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.
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