Whole-Exome Sequencing Reveals Pediatric Rare Syndromic Hearing Loss / 罕见病研究

  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.

The value of Gesell score in predicting the outcome of cochlear implantation in children.

The purpose is to determine the value of preoperative evaluation on developmental levels using Gesell score in predicting the postoperative outcome in pediatric cochlear implantation (CI) recipients. 78 children who underwent CI were included in our study. Age at the time of CI ranged from 6 to 67 months. The Gesell score including adaptability, fine motor, gross motor, language, and social skill was used for evaluating the patients' developmental levels before the CI, and a developmental quotient (DQ) was calculated by the following formula: (developmental age/actual age) × 100. The auditory perception and speech production abilities were evaluated using the categories of auditory performance (CAP) and speech intelligibility rating (SIR) before CI and at 1 year after CI. The associations between the preoperative Gesell score/DQ and the improvement of postoperative CAP/SIR outcomes were analyzed. Preoperative developmental evaluation of CI candidates suggested that the developmental delay was common in children with profound hearing loss. The mean of language DQ (46.72 ± 17.59) was significantly decreased than the mean of others' ability DQ in the enrolled children. The older the pediatric CI candidates were, the lower the DQ were. Age/adaptability DQ and improvement of postoperative CAP/SIR 1 year after CI were related. Age was negative correlation with the CI outcome and adaptability DQ was positive correlation with the CI outcome. The mean of CAP 1 year after CI was 4.16, and the mean of SIR 1 year after CI was 2.03. The first logistics regression equation was Y1 = exp (-18.123 + 0.199 × adaptability DQ - 0.163 × age), and Y1 was the possibility which CAP was lower than 5 1 year after CI. The sensitivity of first regression equation was 84.2% and specificity was 70.8%. The second logistics regression equation was Y2 = exp (-23.347 + 0.268 × adaptability DQ - 0.164 × age), and Y2 was the possibility which SIR was lower than 3 1 year after CI. The sensitivity of second regression equation was 85.7% and specificity was 72.7%. Preoperative Gesell score may be value in predicting the postoperative outcome in pediatric CI recipients. The older children are more serious developmental delay occur, so the CI operation should be finished as early as possible. Adaptability DQ combined with age has predictive effect on the postoperative outcome of cochlear implantation in children.

The prognosis and its influencing factors analysis on grommet insertions for secretory otitis media in children / 重庆医学

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.

Clinical characteristics in children with cleft palate associated with middle ear cholesteatoma / 中华耳鼻咽喉头颈外科杂志

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.

Effects of noise competition on monosyllabic and disyllabic word perception in children / 中华耳鼻咽喉头颈外科杂志

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.