title: Auditory and communicative abilities in the auditory neuropathy spectrum disorder and mutation in the Otoferlin gene: clinical cases study.
abstract: 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.
authors: Graduate Program in Speech-Language Pathology and Audiology, Pontifícia Universidade Católica de São Paulo, São Paulo, SP, Brazil. na-thais@hotmail.com
authors: Nayara Thais de Oliveira
authors: NT
authors: Costa
authors: Ana Claudia
authors: AC
authors: Martinho-Carvalho
authors: Maria Claudia
authors: MC
authors: Cunha
authors: Doris Ruthi
authors: DR
authors: Lewis
mesh_terms: D002648:Child; D003147:Communication Disorders / Q000209:etiology*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D035781:Siblings; D013067:Speech Perception / Q000502:physiology*
chemical_list: D008565:Membrane Proteins; C118457:OTOF protein, human