Future directions for screening and treatment in congenital hearing loss

被引:25
作者
Thorpe, Ryan K. [1 ,2 ]
Smith, Richard J. H. [1 ,2 ,3 ,4 ]
机构
[1] Univ Iowa, Carver Coll Med, Mol Otolaryngol & Renal Res Labs, 375 Newton Rd, Iowa City, IA 52242 USA
[2] Univ Iowa, Dept Otolaryngol Head & Neck Surg, 200 Hawkins Dr, Iowa City, IA 52242 USA
[3] Univ Iowa, Interdisciplinary Grad Program Genet, 375 Newton Rd, Iowa City, IA 52242 USA
[4] Univ Iowa, Iowa Inst Human Genet, 375 Newton Rd, Iowa City, IA 52242 USA
关键词
genetic hearing loss; deafness; cytomegalovirus; newborn screening; precision medicine; GENE-THERAPY; CYTOMEGALOVIRUS-INFECTION; MOUSE MODEL; IDENTIFIED CHILDREN; VESTIBULAR FUNCTION; MUTATIONS; DIAGNOSIS; OUTCOMES; VALGANCICLOVIR; PREVENTION;
D O I
10.1093/pcmedi/pbaa025
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
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.
引用
收藏
页码:175 / 186
页数:12
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