ABSTRACT
<p><b>OBJECTIVE</b>To investigate the genetic etiologies in the 0- 3-years-old infants with hearing loss and to analyze the interaction between genetics and environmental factors.</p><p><b>METHODS</b>Total of 130 infants were performed detailed audiological evaluation as well as the detection of the popular deafness gene mutations in GJB2 gene, SLC26A4 and mtDNA12SrRNA. Of them, 84 cases were performed the computer tomography or magnetic resonance imaging examinations.</p><p><b>RESULTS</b>Of the 130 cases, 54 infants were diagnosed as large vestibular aqueduct syndrome, while seven of 130 were as auditory neuropathy and the others were diagnosed as sensorineural hearing loss. Considering of the risks of etiologies for hearing loss, 85 of them had the experiences of the high risk factors at birth (65.4%, 85/130), while 23 of them had the exposure of aminoglycoside antibiotics, and 13 had the family history background as well as two cases were from the consanguineous families. In the causative genes screening, 42 infants were caused by the mutations of SLC26A4 gene (32.3%), but 14 infants found the mutations in GJB2 gene (4.6%), and no infants carried the mutation in mtDNA 12SrRNA 1555G and 1494T points in our studies.</p><p><b>CONCLUSIONS</b>In our studies, about 36.9% infants hearing loss cases can be found the mutations in SLC26A4 and GJB2 genes. It is essential to put the idea into the hearing evaluation combined with genetic testing for the diagnoses of hearing loss. It is also helpful for exploring the etiologies of hearing loss and performing the target genetic consulting for decreasing the prevalence of deafness in the future.</p>
Subject(s)
Child, Preschool , Female , Humans , Infant , Male , Connexin 26 , Connexins , Genetics , DNA, Mitochondrial , Genetics , Genetic Testing , Hearing Loss , Diagnosis , Genetics , Hearing Tests , Membrane Transport Proteins , Genetics , RNA, Ribosomal , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To estimate correlation between phonetically balanced maximum (PB max) and pure tone auditory threshold in auditory neuropathy (AN) patients.</p><p><b>METHODS</b>One hundred and six AN patients were identified using multiple criteria including PB max, a metric for speech recognition, pure tone auditory threshold, acoustic emission test, distortion products otoacoustic emission (DPOAE) and auditory brainstem response (ABR). SPSS statistical software was used to estimate the Pearson's correlation between PB max and pure tone auditory threshold and to test whether pure tone auditory threshold, or auditory configuration had a significant impact on PB max.</p><p><b>RESULTS</b>Even the patients had the same or similar values for pure tone auditory threshold or auditory configuration, varied values of PB max were found in two hundreds and twelve ears for 106 patients. Analysis of the data for 106 patients revealed a negative correlation (r = -0. 602, P <0. 01) between PB max and pure tone auditory threshold, i. e. hearing loss at a mild relates to a lower PB max. By using analysis of variance (ANOVA) method, it was found that both pure tone auditory threshold and auditory configuration had a significant (P <0.01) impact on the patients' PB max.</p><p><b>CONCLUSIONS</b>This analysis implicated the promise and potential of pure tone auditory threshold and auditory configuration for predicting PB max of the AN patients, and improving the diagnosis of AN.</p>