威廉斯综合征成人的外周听觉通路和 ABR 特征。

IF 1 Q3 OTORHINOLARYNGOLOGY International Archives of Otorhinolaryngology Pub Date : 2024-07-05 eCollection Date: 2024-07-01 DOI:10.1055/s-0044-1785457
Jacqueline Aquino do Nascimento, Liliane Aparecida Fagundes Silva, Alessandra Gianella Samelli, Carla Gentile Matas
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摘要

导言 威廉姆斯综合征(WS)是一种遗传性疾病,由 7 号染色体微缺失引起,影响 28 个基因。研究表明,传导性损失似乎与弹性蛋白基因的缺失有关,而轻度至深度的感音神经损失则是由于耳蜗脆性造成的。目的 对患有 WS 的成人与年龄和性别匹配的神经正常成人的外周听觉系统和听性脑干反应(ABR)进行描述和比较。方法 我们对 30 名年龄在 18 至 37 岁之间的男女患者进行了横断面观察研究,其中 15 人患有 WS(研究组),15 人既无 WS 也无听力问题(对照组),他们的性别和年龄均匹配。受试者接受了纯音和言语测听、声沉降、瞬态诱发耳声发射(TEOAEs)和 ABR 测试。结果 53.3% 的研究样本发现了早发感音神经性听力损失,大部分为轻度,发生频率在 3 kHz 以上。53.3%的受试者没有出现 TEOAEs;在出现 TEOAEs 的受试者中,信噪比反应明显低于对照组。在 ABR 中,观察到第一波和第三波的绝对潜伏期增加。结论 WS 患者有早期和进行性耳蜗损伤,主要影响耳蜗基底区。他们的脑干似乎在成年后开始发生低度变化。
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Peripheral Auditory Pathway and ABR Characterization in Adults with Williams Syndrome.

Introduction  Williams syndrome (WS) is a genetic disorder caused by a microdeletion in chromosome 7, affecting ∼ 28 genes. Studies have demonstrated conductive losses seemingly related to the absence of the elastin gene and mild to profound sensorineural losses due to cochlear fragility. Objective  To characterize and compare the peripheral auditory system and auditory brainstem response (ABR) of adults with WS and neurotypical adults matched by age and gender. Methods  We conducted a cross-sectional observational study with 30 individuals of both sexes, aged 18 to 37 years - 15 of them with WS (study group) and 15 with neither the syndrome nor hearing complaints (control group), matched for sex and age. The subjects underwent pure-tone and speech audiometry, acoustic immittance, transient-evoked otoacoustic emissions (TEOAEs), and ABR. Results  Early-onset sensorineural hearing loss was found in 53.3% of the study sample, mostly mild, occurring above 3 kHz. The TEOAEs were absent in 53.3% of assessed subjects; for those in whom they were present, the signal-to-noise responses were significantly lower than in the control group. In the ABR, increased absolute latencies were observed in waves I and III. Conclusion  Individuals with WS have early and progressive cochlear impairments, mainly affecting the basal region of the cochlea. They may have low brainstem changes which seem to begin in adulthood.

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来源期刊
CiteScore
2.80
自引率
0.00%
发文量
84
审稿时长
12 weeks
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