Hyperacusis in Williams syndrome - Characteristics and associated neuroaudiologic abnormalities
Hyperacusis in Williams syndrome - Characteristics and associated neuroaudiologic abnormalities
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DOI：
10.1212/01.wnl.0000196643.35395.5f
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发表时间：
2006-02-14
期刊：
影响因子：
9.9
通讯作者：
Attias, J
中科院分区：
文献类型：
--
作者：
Gothelf, D;Farber, N;Attias, J
背景：听觉过敏和恐声症是威廉姆斯综合征 (WS) 中常见的使人衰弱的症状，但人们对其潜在的听力和神经过程知之甚少。方法：49 名 WS 受试者的母亲被要求填写听力过敏筛查问卷。报告有听觉过敏和足够发育能力的受试者接受了全面的听力学和脑听觉诱发反应（BAER）测试。研究结果与配对的典型发育对照受试者的研究结果进行了比较。结果：49 例 WS 儿童中，41 例（84%）患有中度至重度听力过敏，且始于婴儿期。其中，21 名（平均年龄 15.8 +/- 5.5 岁）接受了定量测试。患有 WS 的受试者报告的不适声音强度平均比对照受试者低 20 分贝。纯音测听和失真产物耳声发射测试显示高频耳蜗听力损失。与对照组相比，WS 受试者对最大刺激缺乏同侧声反射反应的情况明显更常见。在 BAER 测试中，WS 组的 I 波潜伏期显着延长。结论：Williams 综合征 (WS) 的听力过敏与高频听力损失相关，类似于噪声引起的听力损失。 WS 中的听觉过敏和听力损失可能源于听觉神经功能障碍导致的声反射缺陷。可能介导 WS 听觉过敏的其他机制应在未来的研究中进行评估，包括募集、面神经管畸形和弹性蛋白基因单倍体不足。
Background: Hyperacusis and phonophobia are common, debilitating symptoms in Williams syndrome (WS), yet little is known about their underlying audiologic and neurologic processes. Methods: The mothers of 49 subjects with WS were asked to complete the Hyperacusis Screening Questionnaire. Subjects with reported hyperacusis and sufficient developmental capacity underwent comprehensive audiological and brain auditory evoked response (BAER) testing. Findings were compared with those from pair-matched typically developing control subjects. Results: Forty-one of the 49 children with WS (84%) had hyperacusis of moderate to severe degree, which began in infancy. Of these, 21 ( mean age 15.8 +/- 5.5 years) were quantitatively tested. Subjects with WS reported discomfort at sound intensities on average 20 dB lower than control subjects. Pure-tone audiometry and distortion products otoacoustic emission test revealed a high-frequency cochlear hearing loss. An absence of ipsilateral acoustic reflex responses to maximum stimulation was significantly more common in the subjects with WS than controls. On BAER testing, the WS group had a significant prolongation in wave I latency. Conclusions: Hyperacusis in Williams syndrome ( WS) is associated with a high-frequency hearing loss resembling the configuration of noise-induced hearing loss. The hyperacusis and hearing loss in WS may stem from a deficiency in the acoustic reflex resulting from auditory nerve dysfunction. Additional mechanisms that may mediate hyperacusis in WS and should be evaluated in future studies include recruitment, malformation of the facial canal, and haploinsufficiency of the elastin gene.