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Objective To discuss the significance of genetic diagnosis of children with syndromic hearing loss by using whole-exome sequencing. Methods The clinical data of 34 children with sensorineural hearing loss were collected and the whole exons of genome of the children and their parents were sequenced and analyzed. Results Genetic causative gene and mutations have been identified in 19 children, including 4 genes (HARS2, USH2A, GATA3, MITF) related to rare syndromic hearing loss. Fifteen children were diagnosed with non-syndromic hearing loss related gene, including 8 cases with GJB2 mutation, 5 cases with SLC26A4 mutation and 2 cases with MYO15A mutation. Mutations of c.435_437del(p.K147del) and c.1403G > C (p.G468A) in gene HARS2, c.11389+1del in gene USH2A, c.1327delA(p.M443Wfs*33) in gene GATA3, c.627C > A(p.C209X) in gene MITF and c.8033_8057delinsG(p.N2678_D2686delinsS) in gene MYO15A were first reported. Conclusions Whole-exome sequencing helps the accurate diagnosis of causes of hearing loss, especially for the rare syndromic hearing loss with atypical clinical manifestations. Information from genetic testing may highlight further recommended exams of structure and functions of related organs.
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Objective@#To summarize the characteristics of children diagnosed as cleft palate associated with middle ear cholesteatoma.@*Methods@#There were five middle ear cholesteatoma cases who had previously received cleft palate repairment surgery. All of the patients were followed up for 17 to 47 months. Median follow-up time was 31 months.@*Results@#There were three males and two females with three to eleven years old , and the average of age was seven years and ten months. The time of cleft palate repairment surgery was from six months to four years, and the average age was one year and nine months. No history of grommet insertion. Three cases were unilateral choleateatoma (right ear in two cases and left ear in one case, of which two cases of contralateral ear with secretory otitis media) and two cases were bilateral choleateatoma. Five cases(seven ears) received surgeries. Radical mastoidectomy + canal wall down tympanoplasty were performed in three ears, in which we found stapes disappeared. Radical mastoidectomy + canal wall up tympanoplasty were performed in four ears, in which we found intact foot plate, with recurrence occurred in one case nine months after the first surgery. No recurrence occurred after the second canal wall down tympanoplasty. The postoperative average hearing thresholds of air conduction were improved in different degrees.@*Conclusions@#There may be a relationship between cleft palate associated with middle ear cholesteatoma and no grommet insertion history. The incidence of bilateral cases is relatively high, and otitis media with effusion may occur because of poor Eustachian tube function in the unilateral cases. Choice of surgical methods should be decided basing on combination of decreasing the recrudescence and improving the hearing.
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Objective@#The purpose of the present study was to investigate the effects of noise competition on word perception in normal hearing (NH) children and children with cochlear implantation (CI).@*Methods@#To estimate the contribution of noise competition on speech perception, word perception in speech-shaped noise(SSN)and 4-talker babble noise(BN) with Mandarin Lexical Neighborhood Test were performed in 80 NH children and 89 children with CI. Corrected perception percentages were acquired in each group.@*Results@#Both signal to noise ratio (SNR) and noise type influenced the word perception. In NH group, corrected percentages of disyllabic word perception in SSN were 24.2%, 55.9%, 77.1%, 85.1% and 88.9% at -8, -4, 0, 4 and 8 dB SNR, corresponding corrected percentages of monosyllabic word were 13.9%, 39.5%, 60.1%, 68.8% and 80.1%, respectively. In BN noise, corrected percentages of disyllabic word were 2.4%, 24.3%, 55.6%, 74.3% and 86.2%, corresponding monosyllabic word were 2.3%, 20.8%, 47.2%, 61.1% and 74.8%, respectively. In CI group, corrected percentages of dissyllabic word in SSN and BN at 10 dB SNR were 65.5% and 58.1%, respectively. Corresponding monosyllabic word were 49.0% and 41.0%. For SNR=5 dB, corrected percentages of disyllabic word in SSN and BN were 50.0% and 38.1%, corresponding corrected percentages of monosyllabic word were 40.8% and 25.1%, respectively. Analysis indicated that the masking effect were significantly higher in BN compared with SSN.@*Conclusions@#Noise competition influence word perception performance significantly. In specific, the influence of noise on word perception is bigger in children with CI than in NH children. The masking effect is higher in BN noise when compared with SSN.
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Objective To investigate the prognosis of grommet insertions for osecretory otitis media in children and analyze the factors that may influence the results.Methods A retrospective review of 103 children (182 ears) with grommet insertions for osecretory otitis media from January 2011 to December 2011 was performed.They were divided into two groups(A and B) basing on the median age of 6 years old and observed their clinical manifestations,etiology and prognosis through two years' follow-up.The preoperative pure tone audiometry(PTA) hearing threshold,PTA in two weeks after surgery,the proportion of adenoid hypertro phy,the time of tube extrusion,the relapse of osecretory otitis media and repeat operation between two groups were compared.Results The difference of preoperative PTA and post operative PTA were not significant different between two groups(P＞0.05).But post operative PTA was lower than preoperative PTA(P＜0.05).The difference of otitis media recurrence was not significant different between two groups(P=0.088),but adenoid hypertrophy's proportion,tube extrusion's time and relapse were significant different(P＜0.05).Conclusion For school-age children with secretory otitis media need to extend the catheter time to reduce the probability of secondary catheterization.