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Jornal da Sociedade Brasileira de Fonoaudiologia

versão On-line ISSN 2179-6491

Resumo

COSTA, Nayara Thais de Oliveira; MARTINHO-CARVALHO, Ana Claudia; CUNHA, Maria Claudia  e  LEWIS, Doris Ruthi. Auditory and communicative abilities in the auditory neuropathy spectrum disorder and mutation in the Otoferlin gene: clinical cases study. J. Soc. Bras. Fonoaudiol. [online]. 2012, vol.24, n.2, pp.181-187. ISSN 2179-6491.  http://dx.doi.org/10.1590/S2179-64912012000200016.

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.

Palavras-chave : Auditory perception; Communication; Language; Hearing loss, central; Child.

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