{"title":"科妮莉亚-德-朗格综合征患者的听觉特征。","authors":"Nayara Pereira Santos, Liliane Aparecida Fagundes Silva, Ivone Ferreira Neves-Lobo, Chong Ae Kim, Carla Gentile Matas","doi":"10.1055/s-0044-1788001","DOIUrl":null,"url":null,"abstract":"<p><p><b>Introduction</b> Cornelia de Lange Syndrome (CdLS) is a genetic disorder in which individuals may present sensorineural and/or conductive hearing loss, and the results of behavioral auditory assessments are not accurate. <b>Objective</b> To characterize the audiological profile of individuals with CdLS through behavioral, electroacoustic, and electrophysiological audiological assessments. <b>Methods</b> The study included 13 individuals of both sexes, aged between 3 and 26 years, with diagnoses confirmed through genetic studies. The following procedures were performed: medical history survey, otoscopy (pure-tone audiometry [PTA], speech audiometry, and acoustic immittance measures), and auditory brainstem response (ABR). <b>Results</b> In total 62.50% of the participants who underwent PTA had abnormal results (all of which were mild), with a predominance of bilateral conductive hearing loss (60%). Regarding tympanometry, 76.93% had abnormal results, most frequently type B (85.72% on the right and 88.89% on the left ear). Acoustic reflexes showed results compatible with tympanometry changes. Changes in ABR latency values compatible with middle-ear impairment were found in 8 of them (66.66%) - 3 had bilateral (37.50%), and 5 had unilateral impairments (62.50%). <b>Conclusion</b> Mild hearing loss was identified in 62.5% of the individuals with CdLS who underwent the behavioral audiological assessment. In the acoustic immittance measures, 76.9% of the participants presented a tympanometry curve characteristic of middle-ear changes. Acoustic reflexes were absent in 84.6% of the subjects. In the ABR, no changes were identified in auditory pathway integrity. On the other hand, changes in the absolute latency values were found, which are characteristic of conductive hearing loss.</p>","PeriodicalId":13731,"journal":{"name":"International Archives of Otorhinolaryngology","volume":null,"pages":null},"PeriodicalIF":1.0000,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11511578/pdf/","citationCount":"0","resultStr":"{\"title\":\"Audiological Characterization of Individuals with Cornelia de Lange Syndrome.\",\"authors\":\"Nayara Pereira Santos, Liliane Aparecida Fagundes Silva, Ivone Ferreira Neves-Lobo, Chong Ae Kim, Carla Gentile Matas\",\"doi\":\"10.1055/s-0044-1788001\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><b>Introduction</b> Cornelia de Lange Syndrome (CdLS) is a genetic disorder in which individuals may present sensorineural and/or conductive hearing loss, and the results of behavioral auditory assessments are not accurate. <b>Objective</b> To characterize the audiological profile of individuals with CdLS through behavioral, electroacoustic, and electrophysiological audiological assessments. <b>Methods</b> The study included 13 individuals of both sexes, aged between 3 and 26 years, with diagnoses confirmed through genetic studies. The following procedures were performed: medical history survey, otoscopy (pure-tone audiometry [PTA], speech audiometry, and acoustic immittance measures), and auditory brainstem response (ABR). <b>Results</b> In total 62.50% of the participants who underwent PTA had abnormal results (all of which were mild), with a predominance of bilateral conductive hearing loss (60%). Regarding tympanometry, 76.93% had abnormal results, most frequently type B (85.72% on the right and 88.89% on the left ear). Acoustic reflexes showed results compatible with tympanometry changes. Changes in ABR latency values compatible with middle-ear impairment were found in 8 of them (66.66%) - 3 had bilateral (37.50%), and 5 had unilateral impairments (62.50%). <b>Conclusion</b> Mild hearing loss was identified in 62.5% of the individuals with CdLS who underwent the behavioral audiological assessment. In the acoustic immittance measures, 76.9% of the participants presented a tympanometry curve characteristic of middle-ear changes. Acoustic reflexes were absent in 84.6% of the subjects. In the ABR, no changes were identified in auditory pathway integrity. On the other hand, changes in the absolute latency values were found, which are characteristic of conductive hearing loss.</p>\",\"PeriodicalId\":13731,\"journal\":{\"name\":\"International Archives of Otorhinolaryngology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.0000,\"publicationDate\":\"2024-10-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11511578/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Archives of Otorhinolaryngology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1055/s-0044-1788001\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/10/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"OTORHINOLARYNGOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Archives of Otorhinolaryngology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1055/s-0044-1788001","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/10/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"OTORHINOLARYNGOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
导言 科妮莉亚-德-朗格综合征(CdLS)是一种遗传性疾病,患者可能会出现感音神经性和/或传导性听力损失,而行为听觉评估的结果并不准确。目的 通过行为、电声和电生理听觉评估,确定 CdLS 患者的听觉特征。方法 该研究包括 13 名年龄在 3 至 26 岁之间、经基因研究确诊的男女患者。进行了以下程序:病史调查、耳镜检查(纯音测听[PTA]、言语测听和声沉降测量)和听性脑干反应(ABR)。结果 在接受纯音测听的参与者中,共有 62.50%的人出现异常结果(均为轻度),其中以双侧传导性听力损失为主(60%)。在鼓室测量方面,76.93%的人结果异常,其中以 B 型最为常见(右耳为 85.72%,左耳为 88.89%)。声反射的结果与鼓室测量的变化相符。其中 8 人(66.66%)的 ABR 延迟值变化与中耳损伤相符,3 人(37.50%)为双侧损伤,5 人(62.50%)为单侧损伤。结论 62.5%的 CdLS 患者在接受行为听力评估后发现有轻度听力损失。在声阻抗测量中,76.9%的参与者出现了中耳病变的鼓室测量曲线。84.6%的受试者没有声反射。在 ABR 中,未发现听觉通路完整性发生变化。另一方面,绝对潜伏期值发生了变化,这是传导性听力损失的特征。
Audiological Characterization of Individuals with Cornelia de Lange Syndrome.
Introduction Cornelia de Lange Syndrome (CdLS) is a genetic disorder in which individuals may present sensorineural and/or conductive hearing loss, and the results of behavioral auditory assessments are not accurate. Objective To characterize the audiological profile of individuals with CdLS through behavioral, electroacoustic, and electrophysiological audiological assessments. Methods The study included 13 individuals of both sexes, aged between 3 and 26 years, with diagnoses confirmed through genetic studies. The following procedures were performed: medical history survey, otoscopy (pure-tone audiometry [PTA], speech audiometry, and acoustic immittance measures), and auditory brainstem response (ABR). Results In total 62.50% of the participants who underwent PTA had abnormal results (all of which were mild), with a predominance of bilateral conductive hearing loss (60%). Regarding tympanometry, 76.93% had abnormal results, most frequently type B (85.72% on the right and 88.89% on the left ear). Acoustic reflexes showed results compatible with tympanometry changes. Changes in ABR latency values compatible with middle-ear impairment were found in 8 of them (66.66%) - 3 had bilateral (37.50%), and 5 had unilateral impairments (62.50%). Conclusion Mild hearing loss was identified in 62.5% of the individuals with CdLS who underwent the behavioral audiological assessment. In the acoustic immittance measures, 76.9% of the participants presented a tympanometry curve characteristic of middle-ear changes. Acoustic reflexes were absent in 84.6% of the subjects. In the ABR, no changes were identified in auditory pathway integrity. On the other hand, changes in the absolute latency values were found, which are characteristic of conductive hearing loss.