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Diagnosis routine and approach in genetic sensorineural hearing loss

Aim: To develop a screening in order to determine the more common syndromic and non-syndromic genetic SNHL, considering epidemiological data, information and the development of new technologies; clinical implications and bioethical issues. Materials and Methods: We reviewed the literature in order t...

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Autores principales: Alves, Fatima Regina Abreu, de Andrade Quintanilha Ribeiro, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9445739/
https://www.ncbi.nlm.nih.gov/pubmed/17684664
http://dx.doi.org/10.1016/S1808-8694(15)30087-2
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author Alves, Fatima Regina Abreu
de Andrade Quintanilha Ribeiro, Fernando
author_facet Alves, Fatima Regina Abreu
de Andrade Quintanilha Ribeiro, Fernando
author_sort Alves, Fatima Regina Abreu
collection PubMed
description Aim: To develop a screening in order to determine the more common syndromic and non-syndromic genetic SNHL, considering epidemiological data, information and the development of new technologies; clinical implications and bioethical issues. Materials and Methods: We reviewed the literature in order to develop a screening that includes: history, patterns of inheritance, physical evaluation, laboratory tests, image studies, multidisciplinary approaches and genetic tests. Conclusion: The epidemiologic data estimates that at least 50% of prelingual HL can be determined by genetic alterations. Medical and family histories are extremely important to help one achieve a genetic-based SNHL diagnosis, and help determine inheritance patterns. Through a high suspicion index, syndromic cases can be diagnosed or excluded, with a careful evaluation and molecular basis tests used to better determine the hearing loss. Genetic tests and mitochondrial inheritance should be considered in any family with many affected individuals, except when the hearing loss was clearly transmitted by a male. In cases of non-syndromic SNHL, GJB2 mutation analysis must be proposed.
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spelling pubmed-94457392022-09-09 Diagnosis routine and approach in genetic sensorineural hearing loss Alves, Fatima Regina Abreu de Andrade Quintanilha Ribeiro, Fernando Braz J Otorhinolaryngol Review Article Aim: To develop a screening in order to determine the more common syndromic and non-syndromic genetic SNHL, considering epidemiological data, information and the development of new technologies; clinical implications and bioethical issues. Materials and Methods: We reviewed the literature in order to develop a screening that includes: history, patterns of inheritance, physical evaluation, laboratory tests, image studies, multidisciplinary approaches and genetic tests. Conclusion: The epidemiologic data estimates that at least 50% of prelingual HL can be determined by genetic alterations. Medical and family histories are extremely important to help one achieve a genetic-based SNHL diagnosis, and help determine inheritance patterns. Through a high suspicion index, syndromic cases can be diagnosed or excluded, with a careful evaluation and molecular basis tests used to better determine the hearing loss. Genetic tests and mitochondrial inheritance should be considered in any family with many affected individuals, except when the hearing loss was clearly transmitted by a male. In cases of non-syndromic SNHL, GJB2 mutation analysis must be proposed. Elsevier 2015-10-19 /pmc/articles/PMC9445739/ /pubmed/17684664 http://dx.doi.org/10.1016/S1808-8694(15)30087-2 Text en . https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review Article
Alves, Fatima Regina Abreu
de Andrade Quintanilha Ribeiro, Fernando
Diagnosis routine and approach in genetic sensorineural hearing loss
title Diagnosis routine and approach in genetic sensorineural hearing loss
title_full Diagnosis routine and approach in genetic sensorineural hearing loss
title_fullStr Diagnosis routine and approach in genetic sensorineural hearing loss
title_full_unstemmed Diagnosis routine and approach in genetic sensorineural hearing loss
title_short Diagnosis routine and approach in genetic sensorineural hearing loss
title_sort diagnosis routine and approach in genetic sensorineural hearing loss
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9445739/
https://www.ncbi.nlm.nih.gov/pubmed/17684664
http://dx.doi.org/10.1016/S1808-8694(15)30087-2
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