父母对儿童听力损失的基因测试的经验.
Ivette Cejas1,2, Jennifer Coto2, Christina M Sarangoulis1
1Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, USA.
Journal of genetic counseling
|November 5, 2024
概括
由于成本和缺乏意识等障碍,儿童听力损失的家长遗传测试很低. 许多家长还缺乏足够的测试前和测试后咨询,导致对结果的困惑.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 听力学 听力学是指听力学.
背景情况:
- 基因检测对于了解儿童听力损失的病因至关重要.
- 父母对基因检测的看法和经验对于改善基因检测和护理至关重要.
- 目前将基因检测纳入听力学实践的整合仍然不够理想.
研究的目的:
- 评估家长对儿童听力损失遗传测试的看法和经验.
- 识别阻碍家庭进行基因检测的障碍.
- 评估向家长提供遗传咨询的充分性.
主要方法:
- 一个由44项组成的问卷,遗传测试问卷的家长感知,被管理.
- 参与者从儿童耳鼻喉科/听力学实践和社交媒体中招募.
- 146名听力损失儿童的家长完成了调查.
主要成果:
- 只有47.6%的儿童接受了基因测试;常见的障碍包括缺乏意识,成本和没有提供测试.
- 超过一半的家长没有接受测试前咨询 (55.1%),许多人对结果感到困惑,尤其是意义不明的变体.
- 不到一半的人回忆起关于继承方式的信息 (43.4%).
结论:
- 儿童听力损失遗传检测的采用率很低.
- 测试前和后不充分的咨询有助于父母的困惑和低吸收.
- 需要加强听力保健专业人员和遗传学家之间的合作,以改善获取和咨询.
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