Silva Liliane Aparecida Fagundes, Kim Chong Ae, Matas Carla Gentile
Departamento de Fisioterapia, Fonoaudiologia e Terapia Ocupacional, Faculdade de Medicina, Universidade de São Paulo - USP - São Paulo (SP), Brasil.
Unidade de Genética, Instituto da Criança, Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo - USP - São Paulo (SP), Brasil.
Codas. 2018 Sep 17;30(5):e20170267. doi: 10.1590/2317-1782/20182017267.
Identify the characteristics of the clinical audiological evaluation of individuals with Williams syndrome by means of a systematic literature review.
The following research question was initially determined: "What are the characteristics of clinical auditory assessment in individuals with Williams syndrome?". From this, a bibliographic search was conducted in four databases using the descriptors: Williams syndrome, Hearing loss, and Audiology.
Only full articles with evidence levels 1 or 2, published in Brazilian Portuguese or English, were selected.
Results obtained in the auditory tests used in the clinical routine, namely: immittance test, pure-tone audiometry, otoacoustic emissions, and brainstem auditory evoked potential were analyzed.
Two hundred nine studies were found, but only 12 met the inclusion criteria for the study. It was possible to observe prevalence of type A tympanometry curve, which may occur with absence of acoustic reflexes, mild to moderate sensorineural hearing loss, affecting mainly the high frequencies, absent or less amplified otoacoustic emissions, and brainstem auditory evoked potential without retrocochlear alteration.
Cochlear impairment is common in individuals with Williams syndrome and the main disorders found in the hearing assessment in this population are absence of otoacoustic emissions and acoustic reflexes, as well as presence of mild to moderate sensorineural hearing loss, mainly in the high-frequency range, observed by audiometry.
通过系统的文献综述，确定威廉姆斯综合征患者临床听力学评估的特征。
最初确定了以下研究问题：“威廉姆斯综合征患者临床听觉评估的特征是什么？” 据此，使用描述词 “威廉姆斯综合征”“听力损失” 和 “听力学” 在四个数据库中进行了文献检索。
仅选择以巴西葡萄牙语或英语发表的证据水平为1或2的全文。
分析了临床常规使用的听觉测试结果，即：声导抗测试、纯音听力测试、耳声发射和脑干听觉诱发电位。
共找到209项研究，但只有12项符合该研究的纳入标准。可以观察到A型鼓室图曲线的患病率，可能伴有声反射缺失、轻度至中度感音神经性听力损失，主要影响高频，耳声发射缺失或减弱，以及脑干听觉诱发电位无蜗后改变。
耳蜗损伤在威廉姆斯综合征患者中很常见，该人群听力评估中发现的主要问题是耳声发射和声反射缺失，以及通过听力测试观察到的主要在高频范围内的轻度至中度感音神经性听力损失。
