RESUMO
TEMA: avaliação audiológica de pais de indivíduos com perda auditiva de herança autossômica recessiva. OBJETIVO: estudar o perfil audiológico de pais de indivíduos com perda auditiva, de herança autossômica recessiva, inferida pela história familial ou por testes moleculares que detectaram mutação no gene GJB2, responsável por codificar a Conexina 26. MÉTODO: 36 indivíduos entre 30 e 60 anos foram avaliados e divididos em dois grupos: grupo controle, sem queixas auditivas e sem história familiar de deficiência auditiva, e grupo de estudos composto por pais heterozigotos em relação a genes de surdez de herança autossômica recessiva inespecífica ou portadores heterozigotos de mutação no gene da Conexina 26. Todos foram submetidos à audiometria tonal liminar (0,25kHz a 8), audiometria de altas freqüências (9kHz a 20) e emissões otoacústicas produtos de distorção (EOAPD). RESULTADOS: houve diferenças significativas na amplitude das EOAPD nas freqüências 1001 e 1501Hz entre os grupos, sendo maior a amplitude no grupo controle. Não houve diferença significativa entre os grupos para os limiares tonais de 0,25 a 20KHz. CONCLUSÃO: as EOAPD foram mais eficazes, em comparação com a audiometria tonal liminar, para detectar diferenças auditivas entre os grupos. Mais pesquisas são necessárias para verificar a confiabilidade destes dados.
BACKGROUND: audiological evaluation of parents of individuals with autosomal recessive hearing loss. AIM: to study the audiological profile of parents of individuals with autosomal recessive hearing loss, inferred by family history or by molecular tests that detected heterozygous mutations in the GJB2 gene. This gene codes Connexin 26. METHOD: participants were 36 subjects, ranging between 30 and 60 years, who were divided into two groups: a control group composed by individuals without auditory complaints and without family history of hearing loss, and a research group composed by heterozygous parents of individuals with autosomal recessive hearing loss or heterozygous for connexin 26 mutations. All subjects underwent pure tone audiometry (0,25 to 8kHz), high frequencies audiometry (9 to 20kHz) and distortion product otoacoustic emissions (DPOAE). RESULTS: there were significant differences between the groups when considering the amplitude of DPOAE in the frequencies of 1001 and 1501Hz. Amplitude was higher in the control group. There was no significant difference between the groups for pure tone thresholds from 0.25 to 20KHz. CONCLUSION: the DPOAE were more effective, in comparison to the pure tone audiometry, to detect auditory differences between the groups. More studies of this type are necessary to confirm the observed results.
Assuntos
Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Audiometria de Tons Puros/métodos , Genes Recessivos/genética , Perda Auditiva de Alta Frequência/genética , Emissões Otoacústicas Espontâneas/fisiologia , Conexinas/genética , Perda Auditiva de Alta Frequência/diagnóstico , Mutação/genética , Reprodutibilidade dos Testes , Estatísticas não ParamétricasRESUMO
BACKGROUND: Audiological evaluation of parents of individuals with autosomal recessive hearing loss. AIM: To study the audiological profile of parents of individuals with autosomal recessive hearing loss, inferred by family history or by molecular tests that detected heterozygous mutations in the GJB2 gene. This gene codes Connexin 26. METHOD: Participants were 36 subjects, ranging between 30 and 60 years, who were divided into two groups: a control group composed by individuals without auditory complaints and without family history of hearing loss, and a research group composed by heterozygous parents of individuals with autosomal recessive hearing loss or heterozygous for connexin 26 mutations. All subjects underwent pure tone audiometry (0.25 to 8 kHz), high frequencies audiometry (9 to 20 kHz) and distortion product otoacoustic emissions (DPOAE). RESULTS: There were significant differences between the groups when considering the amplitude of DPOAE in the frequencies of 1001 and 1501 Hz. Amplitude was higher in the control group. There was no significant difference between the groups for pure tone thresholds from 0.25 to 20 KHz. CONCLUSION: The DPOAE were more effective, in comparison to the pure tone audiometry, to detect auditory differences between the groups. More studies of this type are necessary to confirm the observed results.
