Auditory and communicative abilities in the auditory neuropathy spectrum disorder and mutation in the Otoferlin gene: clinical cases study

Detalhes bibliográficos
Autor(a) principal: Costa,Nayara Thais de Oliveira
Data de Publicação: 2012
Outros Autores: Martinho-Carvalho,Ana Claudia, Cunha,Maria Claudia, Lewis,Doris Ruthi
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Jornal da Sociedade Brasileira de Fonoaudiologia
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2179-64912012000200016
Resumo: This study had the aim to investigate the auditory and communicative abilities of children diagnosed with Auditory Neuropathy Spectrum Disorder due to mutation in the Otoferlin gene. It is a descriptive and qualitative study in which two siblings with this diagnosis were assessed. The procedures conducted were: speech perception tests for children with profound hearing loss, and assessment of communication abilities using the Behavioral Observation Protocol. Because they were siblings, the subjects in the study shared family and communicative context. However, they developed different communication abilities, especially regarding the use of oral language. The study showed that the Auditory Neuropathy Spectrum Disorder is a heterogeneous condition in all its aspects, and it is not possible to make generalizations or assume that cases with similar clinical features will develop similar auditory and communicative abilities, even when they are siblings. It is concluded that the acquisition of communicative abilities involves subjective factors, which should be investigated based on the uniqueness of each case.
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spelling Auditory and communicative abilities in the auditory neuropathy spectrum disorder and mutation in the Otoferlin gene: clinical cases studyAuditory perceptionCommunicationLanguageHearing loss, centralChildThis study had the aim to investigate the auditory and communicative abilities of children diagnosed with Auditory Neuropathy Spectrum Disorder due to mutation in the Otoferlin gene. It is a descriptive and qualitative study in which two siblings with this diagnosis were assessed. The procedures conducted were: speech perception tests for children with profound hearing loss, and assessment of communication abilities using the Behavioral Observation Protocol. Because they were siblings, the subjects in the study shared family and communicative context. However, they developed different communication abilities, especially regarding the use of oral language. The study showed that the Auditory Neuropathy Spectrum Disorder is a heterogeneous condition in all its aspects, and it is not possible to make generalizations or assume that cases with similar clinical features will develop similar auditory and communicative abilities, even when they are siblings. It is concluded that the acquisition of communicative abilities involves subjective factors, which should be investigated based on the uniqueness of each case.Sociedade Brasileira de Fonoaudiologia2012-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2179-64912012000200016Jornal da Sociedade Brasileira de Fonoaudiologia v.24 n.2 2012reponame:Jornal da Sociedade Brasileira de Fonoaudiologiainstname:Sociedade Brasileira de Fonoaudiologia (SBF)instacron:SBF10.1590/S2179-64912012000200016info:eu-repo/semantics/openAccessCosta,Nayara Thais de OliveiraMartinho-Carvalho,Ana ClaudiaCunha,Maria ClaudiaLewis,Doris Ruthieng2012-07-20T00:00:00Zoai:scielo:S2179-64912012000200016Revistahttp://www.sbfa.org.br/portal/pg.php?id=41&ttpg=Jornal%20da%20Sociedade%20Brasileira%20de%20Fonoaudiologia&tpc=cinzaONGhttps://old.scielo.br/oai/scielo-oai.php||jornal@sbfa.org.br2179-64912179-6491opendoar:2012-07-20T00:00Jornal da Sociedade Brasileira de Fonoaudiologia - Sociedade Brasileira de Fonoaudiologia (SBF)false
dc.title.none.fl_str_mv Auditory and communicative abilities in the auditory neuropathy spectrum disorder and mutation in the Otoferlin gene: clinical cases study
title Auditory and communicative abilities in the auditory neuropathy spectrum disorder and mutation in the Otoferlin gene: clinical cases study
spellingShingle Auditory and communicative abilities in the auditory neuropathy spectrum disorder and mutation in the Otoferlin gene: clinical cases study
Costa,Nayara Thais de Oliveira
Auditory perception
Communication
Language
Hearing loss, central
Child
title_short Auditory and communicative abilities in the auditory neuropathy spectrum disorder and mutation in the Otoferlin gene: clinical cases study
title_full Auditory and communicative abilities in the auditory neuropathy spectrum disorder and mutation in the Otoferlin gene: clinical cases study
title_fullStr Auditory and communicative abilities in the auditory neuropathy spectrum disorder and mutation in the Otoferlin gene: clinical cases study
title_full_unstemmed Auditory and communicative abilities in the auditory neuropathy spectrum disorder and mutation in the Otoferlin gene: clinical cases study
title_sort Auditory and communicative abilities in the auditory neuropathy spectrum disorder and mutation in the Otoferlin gene: clinical cases study
author Costa,Nayara Thais de Oliveira
author_facet Costa,Nayara Thais de Oliveira
Martinho-Carvalho,Ana Claudia
Cunha,Maria Claudia
Lewis,Doris Ruthi
author_role author
author2 Martinho-Carvalho,Ana Claudia
Cunha,Maria Claudia
Lewis,Doris Ruthi
author2_role author
author
author
dc.contributor.author.fl_str_mv Costa,Nayara Thais de Oliveira
Martinho-Carvalho,Ana Claudia
Cunha,Maria Claudia
Lewis,Doris Ruthi
dc.subject.por.fl_str_mv Auditory perception
Communication
Language
Hearing loss, central
Child
topic Auditory perception
Communication
Language
Hearing loss, central
Child
description This study had the aim to investigate the auditory and communicative abilities of children diagnosed with Auditory Neuropathy Spectrum Disorder due to mutation in the Otoferlin gene. It is a descriptive and qualitative study in which two siblings with this diagnosis were assessed. The procedures conducted were: speech perception tests for children with profound hearing loss, and assessment of communication abilities using the Behavioral Observation Protocol. Because they were siblings, the subjects in the study shared family and communicative context. However, they developed different communication abilities, especially regarding the use of oral language. The study showed that the Auditory Neuropathy Spectrum Disorder is a heterogeneous condition in all its aspects, and it is not possible to make generalizations or assume that cases with similar clinical features will develop similar auditory and communicative abilities, even when they are siblings. It is concluded that the acquisition of communicative abilities involves subjective factors, which should be investigated based on the uniqueness of each case.
publishDate 2012
dc.date.none.fl_str_mv 2012-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2179-64912012000200016
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2179-64912012000200016
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S2179-64912012000200016
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Fonoaudiologia
publisher.none.fl_str_mv Sociedade Brasileira de Fonoaudiologia
dc.source.none.fl_str_mv Jornal da Sociedade Brasileira de Fonoaudiologia v.24 n.2 2012
reponame:Jornal da Sociedade Brasileira de Fonoaudiologia
instname:Sociedade Brasileira de Fonoaudiologia (SBF)
instacron:SBF
instname_str Sociedade Brasileira de Fonoaudiologia (SBF)
instacron_str SBF
institution SBF
reponame_str Jornal da Sociedade Brasileira de Fonoaudiologia
collection Jornal da Sociedade Brasileira de Fonoaudiologia
repository.name.fl_str_mv Jornal da Sociedade Brasileira de Fonoaudiologia - Sociedade Brasileira de Fonoaudiologia (SBF)
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