Auditory and communicative abilities in the auditory neuropathy spectrum disorder and mutation in the Otoferlin gene: clinical cases study
Autor(a) principal: | |
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Data de Publicação: | 2012 |
Outros Autores: | , , |
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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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 |
format |
article |
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) |
repository.mail.fl_str_mv |
||jornal@sbfa.org.br |
_version_ |
1754734638226472960 |