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. 2020 Sep;3(3):175-186.
doi: 10.1093/pcmedi/pbaa025. Epub 2020 Jul 16.

Future directions for screening and treatment in congenital hearing loss

Ryan K Thorpe  1 , Richard J H Smith  1
Affiliations

Future directions for screening and treatment in congenital hearing loss

Ryan K Thorpe et al. Precis Clin Med. 2020 Sep.

Abstract

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.

Keywords: cytomegalovirus; deafness; genetic hearing loss; newborn screening; precision medicine.

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Figures

Figure 1.
Figure 1.
Proposed molecular diagnostic algorithm for genetic hearing screening.
See this image and copyright information in PMC

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