在患有威廉姆斯综合征的成年人中,外周听觉通路和ABR特征
Jacqueline Aquino do Nascimento1, Liliane Aparecida Fagundes Silva1, Alessandra Gianella Samelli1
1Department of Physical, Speech-Language-Hearing, and Occupational Therapies, School of Medicine, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil.
International archives of otorhinolaryngology
|July 8, 2024
概括
患有威廉姆斯综合征 (WS) 的人在成年后会经历早期,渐进的耳听力损失和潜在的大脑干变化. 这项研究强调了WS患者的听觉系统差异.
科学领域:
- 遗传学和听力学
- 神经科学是一个神经科学.
背景情况:
- 威廉姆斯综合征 (WS) 是一种与染色体7缺失相关的遗传疾病,影响约28个基因.
- 在WS的听力障碍包括导电性听力损失 (elastin基因缺失) 和感觉神经听力损失 (耳脆弱性).
研究的目的:
- 为了比较周围听觉系统和听觉脑干反应 (ABR) 在成年人与WS和神经类型对照.
- 描述威廉姆斯综合征患者的听觉系统差异.
主要方法:
- 横截面观察性研究,涉及15名WS成年人和15名年龄/性别匹配的对照.
- 听力评估包括纯色调/语音听力测量,声学不间断度,短暂唤起的音声发射 (TEOAEs) 和ABR.
主要成果:
- 53.3%的WS参与者患有早期发作的神经感官听力损失 (轻度,>3kHz).
- 在53.3%的WS受试者中没有TEOAEs;其余的信号与噪音比率明显较低.
- 在WS组中观察到ABR波I和波III的绝对延迟增加.
结论:
- 患有威廉姆斯综合征的成年人表现出早期,渐进的耳损伤,主要影响基底耳区域.
- 潜在的微妙的大脑干变化可能会在WS患者的成年期出现.
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