先天性听力损失筛查和治疗的未来方向。

IF 5.1 4区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Precision Clinical Medicine Pub Date : 2020-09-01 Epub Date: 2020-07-16 DOI:10.1093/pcmedi/pbaa025
Ryan K Thorpe, Richard J H Smith
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引用次数: 0

摘要

听力损失是最常见的神经感觉缺陷。听力损失由多种遗传和获得性原因引起,对儿童的发育有多种有害影响,及时发现并采取个性化治疗可以改善听力损失。新生儿听力损失的诊断具有挑战性,尤其是轻度或进行性听力损失,其治疗需要一个由听力学家、儿科医生、耳鼻喉科医生和遗传咨询师组成的多学科医疗团队。虽然新生儿生理学听力筛查比以往任何时候都能更早地诊断出听力损失,但越来越多的知识支持同时实施基因和巨细胞病毒检测,以抵消单一筛查方式固有的局限性。在这篇综述中,我们将讨论新生儿听力损失筛查的当代作用以及未来诊断和治疗的方向。
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Future directions for screening and treatment in congenital hearing loss.

Hearing loss is the most common neurosensory deficit. It results from a variety of heritable and acquired causes and is linked to multiple deleterious effects on a child's development that can be ameliorated by prompt identification and individualized therapies. Diagnosing hearing loss in newborns is challenging, especially in mild or progressive cases, and its management requires a multidisciplinary team of healthcare providers comprising audiologists, pediatricians, otolaryngologists, and genetic counselors. While physiologic newborn hearing screening has resulted in earlier diagnosis of hearing loss than ever before, a growing body of knowledge supports the concurrent implementation of genetic and cytomegalovirus testing to offset the limitations inherent to a singular screening modality. In this review, we discuss the contemporary role of screening for hearing loss in newborns as well as future directions in its diagnosis and treatment.

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来源期刊
Precision Clinical Medicine
Precision Clinical Medicine MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
10.80
自引率
0.00%
发文量
26
审稿时长
5 weeks
期刊介绍: Precision Clinical Medicine (PCM) is an international, peer-reviewed, open access journal that provides timely publication of original research articles, case reports, reviews, editorials, and perspectives across the spectrum of precision medicine. The journal's mission is to deliver new theories, methods, and evidence that enhance disease diagnosis, treatment, prevention, and prognosis, thereby establishing a vital communication platform for clinicians and researchers that has the potential to transform medical practice. PCM encompasses all facets of precision medicine, which involves personalized approaches to diagnosis, treatment, and prevention, tailored to individual patients or patient subgroups based on their unique genetic, phenotypic, or psychosocial profiles. The clinical conditions addressed by the journal include a wide range of areas such as cancer, infectious diseases, inherited diseases, complex diseases, and rare diseases.
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