在接受耳植入的墨西哥儿童中,综合征性听力损失的高患病率
Monica Rodriguez-Valero1,2, Adrian Pastolero3, Shelby Redfield3
1Department of Neurosciences ABC Medical Center Mexico City Mexico.
Laryngoscope investigative otolaryngology
|June 10, 2024
概括
基因组测试确定了近一半的墨西哥儿童严重听力损失的遗传原因,包括许多综合征病例. 这凸显了在不同儿科群体中需要进行遗传评估的必要性.
科学领域:
- 遗传学 是一个遗传学.
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
- 儿科 儿科 儿科
背景情况:
- 在西班牙裔和拉丁裔人群中进行的遗传神经传感性听力损失 (SNHL) 研究很少.
- 墨西哥儿童的SNHL遗传诊断率较低,尽管患病率相似.
- 这种差异影响临床护理和及时干预.
研究的目的:
- 调查墨西哥儿童SNHL的遗传基础,这些儿童被评估为耳植入物.
- 确定基因组测试在这个代表性不足的人群中的诊断产量.
主要方法:
- 从墨西哥招募了患有严重至严重SNHL的儿科患者.
- 执行了外体序列或听力损失基因组测试.
- 使用既定标准和CLIA认证实验室确认的变种致病性.
主要成果:
- 在47% (14/30) 的墨西哥SNHL儿童中确定了遗传原因.
- 在71% (10/14) 的确诊病例中发现综合征性听力损失.
- 八个综合征病例模仿了非综合征的表现,强调了基因检测的必要性.
结论:
- 这项研究是迄今为止在墨西哥SNHL儿童中使用基因组测试的最大研究.
- 这些儿童中有很大一部分患有综合征性听力损失.
- 需要在更大,更多样化的队伍中进行进一步的研究,以提高基因测试有效性和医疗干预措施.
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