Auditory measurements in parents of individuals with autosomal recessive hearing loss.

Larissa Suyama da Silva, Regina Célia Mingroni Netto, Seisse Gabriela Gandolfi Sanches, Renata Mota Mamede Carvallo
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引用次数: 5

Abstract

Background: Audiological evaluation of parents of individuals with autosomal recessive hearing loss.

Aim: To study the audiological profile of parents of individuals with autosomal recessive hearing loss, inferred by family history or by molecular tests that detected heterozygous mutations in the GJB2 gene. This gene codes Connexin 26.

Method: Participants were 36 subjects, ranging between 30 and 60 years, who were divided into two groups: a control group composed by individuals without auditory complaints and without family history of hearing loss, and a research group composed by heterozygous parents of individuals with autosomal recessive hearing loss or heterozygous for connexin 26 mutations. All subjects underwent pure tone audiometry (0.25 to 8 kHz), high frequencies audiometry (9 to 20 kHz) and distortion product otoacoustic emissions (DPOAE).

Results: There were significant differences between the groups when considering the amplitude of DPOAE in the frequencies of 1001 and 1501 Hz. Amplitude was higher in the control group. There was no significant difference between the groups for pure tone thresholds from 0.25 to 20 KHz.

Conclusion: The DPOAE were more effective, in comparison to the pure tone audiometry, to detect auditory differences between the groups. More studies of this type are necessary to confirm the observed results.

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常染色体隐性听力损失患者父母的听力测量。
背景:常染色体隐性听力损失患者父母的听力学评价。目的:通过家族史或检测GJB2基因杂合突变的分子检测,研究常染色体隐性听力损失患者父母的听力学特征。这个基因编码连接蛋白26。方法:研究对象36名,年龄在30 ~ 60岁之间,分为两组:对照组由无听力抱怨和无听力损失家族史的个体组成,研究组由常染色体隐性听力损失个体的杂合父母或连接蛋白26突变杂合父母组成。所有受试者进行纯音测听(0.25 ~ 8 kHz)、高频测听(9 ~ 20 kHz)和失真积耳声发射(DPOAE)测试。结果:在1001 Hz和1501 Hz频率下,两组间DPOAE的振幅有显著性差异。对照组的振幅更高。在0.25至20 KHz的纯音阈值组之间没有显著差异。结论:DPOAE比纯音测听更能检测各组间的听觉差异。需要更多的此类研究来证实观察到的结果。
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