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      Hearing loss in neonates and infants

      review-article
      , MD 1 , , MD, PhD 2 , , MD, PhD 1
      Clinical and Experimental Pediatrics
      Korean Pediatric Society
      Infant, Newborn, Hearing loss, Child development, State medicine

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          Abstract

          Hearing in neonates and infants is crucial for their development of language and communication skills. Unless hearing loss is appropriately managed early, it can cause a significant socioeconomic burden considering its detrimental impact on the child's development and its common nature. It is also the most common congenital sensory deficit, with an approximate incidence of 1.5 per 1,000 newborns. Its etiologies are heterogeneous: genetic causes are reportedly involved in up to 80% of cases, while congenital cytomegalovirus infection is the leading environmental factor contributing to congenital hearing loss. The introduction of newborn hearing screening using automated auditory brainstem response and/or automated otoacoustic emission in many developed countries has helped detect and manage hearing loss early. Current auditory rehabilitation options such as cochlear implantation implementing cutting-edge technologies can treat almost all degrees of hearing loss, emphasizing the importance of early hearing detection and intervention. Rapidly developing genetic diagnostic technologies and future cutting-edge treatment options, including gene therapy, will shed light on the future management of hearing loss in neonates and infants.

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          Most cited references41

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          Newborn hearing screening--a silent revolution.

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            Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.

            Severe deafness or hearing impairment is the most prevalent inherited sensory disorder, affecting about 1 in 1,000 children. Most deafness results from peripheral auditory defects that occur as a consequence of either conductive (outer or middle ear) or sensorineuronal (cochlea) abnormalities. Although a number of mutant genes have been identified that are responsible for syndromic (multiple phenotypic disease) deafness such as Waardenburg syndrome and Usher 1B syndrome, little is known about the genetic basis of non-syndromic (single phenotypic disease) deafness. Here we study a pedigree containing cases of autosomal dominant deafness and have identified a mutation in the gene encoding the gap-junction protein connexin 26 (Cx26) that segregates with the profound deafness in the family. Cx26 mutations resulting in premature stop codons were also found in three autosomal recessive non-syndromic sensorineuronal deafness pedigrees, genetically linked to chromosome 13q11-12 (DFNB1), where the Cx26 gene is localized. Immunohistochemical staining of human cochlear cells for Cx26 demonstrated high levels of expression. To our knowledge, this is the first non-syndromic sensorineural autosomal deafness susceptibility gene to be identified, which implicates Cx26 as an important component of the human cochlea.
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              Year 2007 position statement: Principles and guidelines for early hearing detection and intervention programs.

              (2007)
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                Author and article information

                Journal
                Clin Exp Pediatr
                Clin Exp Pediatr
                CEP
                Clinical and Experimental Pediatrics
                Korean Pediatric Society
                2713-4148
                September 2023
                9 January 2023
                : 66
                : 9
                : 369-376
                Affiliations
                [1 ]Department of Otolaryngology-Head and Neck Surgery, Chungnam National University Sejong Hospital, Chungnam National University College of Medicine, Sejong, Korea
                [2 ]Department of Otorhinolaryngology-Head and Neck Surgery, Hallym University Kangnam Sacred Heart Hospital, Hallym University College of Medicine, Seoul, Korea
                Author notes
                Corresponding author: Bong Jik Kim, MD, PhD. Department of Otorhinolaryngology-Head and Neck Surgery, Chungnam National University Sejong Hospital, Chungnam National University College of Medicine, 20, Bodeum 7-ro, Sejong 30099, Korea Email: bongjik.kim@ 123456cnu.ac.kr
                Author information
                http://orcid.org/0000-0002-3839-2324
                http://orcid.org/0000-0002-2274-2799
                http://orcid.org/0000-0002-6384-2171
                Article
                cep-2022-01011
                10.3345/cep.2022.01011
                10475863
                36634668
                e8d94e68-62c3-429d-9eeb-4ab26a16a33c
                Copyright © 2023 by The Korean Pediatric Society

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 9 August 2022
                : 12 December 2022
                : 19 December 2022
                Categories
                Review Article
                Other

                infant,newborn,hearing loss,child development,state medicine

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