Analysis of 59 cases of large vestibular aqueduct syndrome SLC26A4gene mutation frequency and new mutation sites / 临床耳鼻咽喉头颈外科杂志

Objective:To study the frequency of SLC26A4 gene mutation sites in children with enlarged vestibular aqueduct deafness in Yunnan, report the new mutation sites of SLC26A4 gene, further clarify the mutation spectrum of SLC26A4gene, and explore the association between biallelic and monoallelic mutations of SLC26A4 gene and CT phenotype of inner ear, so as to provide basis for clinical and genetic diagnosis of deafness. Methods:Review the results of temporal bone CT examination of 390 children after cochlear implantation in the Department of Otolaryngology, Kunming Children's Hospital from August 2016 to September 2021. Sanger sequencing of SLC26A4 gene was performed in 59 children with enlarged vestibular aqueduct. According to the genetic test results, the children who underwent temporal bone CT examination were divided into two groups: SLC26A4 biallelic mutation group（homozygous mutation and compound heterozygous mutation）, monoallelic mutation group, and the association with inner ear CT phenotype was analyzed, and the new sites were summarized and analyzed. Results:The c.919-2a>g mutation was the most common mutation in children with enlarged vestibular aqueduct with SLC26A4 gene mutation. Three new variants of SLC26A4 gene were found; CT examination combined with genetic testing found that a part of children with enlarged vestibular aqueduct was associated with SLC26A4 monoallelic mutation or no SLC26A4 gene mutation was detected. Further research is needed to investigate the involvement of other pathogenic factors in the pathogenesis of EVA.

Imaging characteristics of patients with large vestibular aqueduct syndrome and its relationship with the acoustically evoked short latency negative response / 中华耳鼻咽喉头颈外科杂志

Objective@#To explore the imaging characteristics of large vestibular aqueduct syndrome (LVAS) patients and their relationship with the acoustically evoked short latency negative response (ANSR), so as to provide reference for the diagnosis of LVAS.@*Methods@#Clinical data of 174 patients(334 ears) with LVAS diagnosed and treated by the Department of Otorhinolaryngology Head and Neck Surgery of the First Affiliated Hospital of Guangxi Medical University, from October 2009 to December 2017 were retrospectively analyzed, including 117 males and 57 females, aged from 5 months to 47 years old, with the median age of 4 years and 4 months. ABR and imaging data of patients were collected. Midpoint diameter and the outlet diameter of the vestibular aqueduct were measured on CT images, the midpoint diameter of the intraosseous parts and the extraosseous parts of enlarged endolymphatic sac(EES) were measured on MRI images. The correlation between the above measurements was analyzed by Pearson test using SPSS 17.0. According to whether ASNR was detected in ABR, the above data were divided into two groups, and the differences of the above imaging measurements were compared by the Independent-Sample Test.@*Results@#The average midpoint diameter of the vestibular aqueduct was (1.87±0.58) mm (±s, the following was the same), and the outlet diameter was (3.07±0.99) mm on CT; the average midpoint diameter of the intraosseous parts in enlarged endolymphatic sac(EES) was (2.39±1.37) mm, and the extraosseous parts was (2.50±2.18) mm on MRI. There was a correlation between the four measurements (P<0.05), among which the midpoint diameter of vestibular aqueduct was strongly positively correlated with the outlet diameter (r=0.760), and the remaining pairs were weakly correlated. ASNR was detected in 241 ears (72.16%,241/334) and undetected in 93 ears (27.84%, 93/334) of the 334 ears with LVAS. Midpoint diameter and the outlet diameter of the vestibular aqueduct in no ASNR group were smaller than the ASNR group, and the difference was statistically significant (t value was 2.814 and 2.754, P<0.05). There was no significant difference in the midpoint diameter of the intraosseous parts and the extraosseous parts of enlarged endolymphatic sac between the two groups, and the difference was no statistically significant(t value was 0.101 and 0.683, P>0.05).@*Conclusions@#There is a strong positive correlation between the midpoint diameter of vestibular aqueduct and the outlet diameter in LVAS patients. There is a certain correlation between the size of vestibular aqueduct and the size of endolymphatic sac. The smaller the diameter of vestibular aqueduct, the lower the occurrence rate of ASNR.

Cochlear Implants in Patients with Large Vestibular Aqueduct Syndrome / 听力学及言语疾病杂志

Objective To study the feasibility of the cochlear implantation and effects in the treatment of large vestibular aqueduct syndrome.Methods A total of 37 patients(74 ears)diagnosed with large vestibular aque-duct syndrome received cochlear implants since 2002 at the Renmin Hospital of Wuhan University.We made a retro-spectively analysis of these 37 patients(37 ears).While 37 patients(37 ears)with normal cochlear structures were considered as the control group.After activation,their speech perception at pre-operation and at 3,6,9,12 months affer the operation were evaluated.Their CAP and SIR scores were collected through questionnaires at each assess-ment interva1 .Results In LVAS group,5 patients(5 ears)had serious gusher,while no gusher was abserved in the control group.The two groups of the electrodes were all inserted in the cochlea.No serious complications occurred after implantation in the two groups.The impedance of the electrodes,the T level,C level and the hearing thresholds were similar with the normal group with cochlear implantations.The results had no significant differences when compared with the normal cochlear group (P>0.05).The speech perception ability,CAP and SIR scores were im-proved along with the increase time of implant use.At the same recovery time,the results had no significant differ-ence in the two groups(P>0.05).At the same group,the results between pre-operation and 3,6,9,12 months post-operation after device activation had significant differences (P<0.05).Conclusion Cochlear implants could be performed safely in patients with large vestibular aqueduct syndrome.The primary outcomes for patients with large vestibular aqueduct syndrome were similar to those with normal cochlear structure following the cochlear im-plantation.

Cochlear Implantation in Isolated Large Vestibular Aqueduct Syndrome: Report of Three Cases and Literature Review

Introduction Large vestibular aqueduct syndrome (LVAS) is characterized by the enlargement of the vestibular aqueduct associated with sensorineural hearing loss. It is the most common radiographically detectable inner ear anomaly in congenital hearing loss. LVAS may occur as an isolated anomaly or in association with other inner ear malformations. Objective To report three cases of isolated LVAS with a focus on preoperative assessment, surgical issues, and short-term postoperative follow-up with preliminary auditory habilitation outcomes. Resumed Report One girl and two boys with LVAS were assessed and cochlear implantation was performed for each. Various ways of intraoperative management of cerebrospinal fluid gusher and postoperative care and outcomes are reported. Conclusion Cochlear implantation in the deaf children with LVAS is feasible and effective.(AU)

AudioIogicaI Characteristics of Large VestibuIar Aqueduct Syndrome / 听力学及言语疾病杂志

Objective To study the audiological characteristics of large vestibular aqueduct syndrome (LVAS)and provide evidence for early diagnosis and prevention.Methods Tympanometry,Otoacoustic emission , auditory brainstem response (ABR),auditory steady-state response(ASSR)were performed on the 49 cases of LVAS which were diagnosed by CT scanning from May,2010 to October,2013.Among them,23 cases(46ears)were examined by pure tone andiometry at the same time.ResuIts Pure tone andiometry showed that 33 ears were mixed hearing loss in the 23 cases(46 ears),the air-bone gap was larger at low frequencies than that of at high frequen-cies,15 ears were senserineural hearing loss with no air-bone gap;96 ears were type A tympanogram.Acoustic re-flex were present in 5 ears ;34 cases (68 ears)of LVAS group were detected with ASNR in 3 -4 ms by the ABR testing,the positive rate was 70.8%.ConcIusion Our study indicates that for confirmed LAVS,if the pure tone andiometry shows significant air-bone gaps at low frequencies with the normal tympanograms,and ASNR is e-voked during the routine ABR testing.

Clinical characterization of audiometrics and vestibular evoked myogenic potentials in patients with large vestibular aqueduct syndrome / 临床耳鼻咽喉头颈外科杂志

Objective:To investigate the clinical and diagnostic characteristics of audiometric findings and vestibular-evoked myogenic potentials in patients with large vestibular aqueduct syndrome (LVAS).Method:Thirty LVAS subjects(60 ears) recruited received pure tone audiometry, acoustic immittance, auditory brain stem responses (ABRs), distortion-product otoacoustic emission(DPOAE), Vestibular evoked myogenic potentials(VEMP) and caloric test, and the diagnostic significance of the results was analyzed.Result:All 30 cases(60 ears) showed progressive and fluctuating hearing loss, while 16 cases experienced dizziness when hearing fluctuated. Most of our cases showed sensorineural hearing loss, and 47 ears(94.0%) showed air-bone gap in the low frequencies, with mean gaps of (43±17)dB HL at 250 Hz, (33±18 )dB HL at 500 Hz, in which the middle ear function showed normal. The acoustically evoked short latency negative response(ASNR) with medium latency(3.06±0.52)ms was elicited from 18 ears(64.3%). The mean amplitude of vestibular evoked myogenic potentials(VEMP) of 42 ears was (147.10± 107.55)μv,and the threshold of VEMP of 19 ears was 75 dB nHL,of 7 ears was 65 dB nHL.Conclusion:Characteristics of hearing performance, such as progressive and fluctuating hearing loss, air-bone gap at the low frequencies with normal middle ears, the ASNR, and increased amplitude and decreased threshold of the VEMPs, will help clinicians make initial diagnosis of LVAS ,and provide a reference for further imaging examination.

The Effects of Cochlear Implantation on Children with Large vestibular Aqueduct Syndrome / 听力学及言语疾病杂志

Objective The purpose of this study is to compare the most comfortable levels and neural re-sponse imaging threshold between children of cochlear implants with large vestibular aqueduct syndrome and normal inner ears. Methods Thirty-eight implanted children participated in this study and were divided into two groups. Group A consisted of 32 patients with normal inner ears and group B 6 patients with radiographically proven large vestibular aqueduct syndrome. All of the patients were the recipients of the cochlear implants by Advanced Bionics. The initial time for the first programming session was approximately one month after surgery. The psychophysical tests included M- level tests. Programming techniques used in the test were suitable for the age of patients. Sound-Wave 1.4 software was used to test tNRI. Results Using the rank sum test, M-level and tNRI of electrode 3,7,11 and 15 did not differ significantly between group A and B(P>0. 05). Conclusion The parameters of mapping are not significantly different between the implanted children with large vestibular aqueduct syndrome and normal inner ear. The management and procedures of mapping used to the subjects with normal inner ear can be applied to the children with large vestibular aqueduct syndrome.

Large vestibular aqueduct syndrome:23 cases report / 中国康复理论与实践

@#This paper reports 23 cases of the large vestibular aqueduct syndrome.All cases are sensori-neural hearing loss,23.91% is moderately severe hearing loss,54.35% is severe hearing loss,and 21.74% is profound hearing loss.The contour of audiogram in high frequency dctcrioration is 74%,che flat contour of audiogram is 13%,the islanded contour audiogram is 13%.Some cases are progressive hearing loss,and the others are sudden hearing loss,two cases among whole cases were found vestibular dysfunction after examination.After high resolution CT scan in inner ear,27 ears were found pathological changes only in vestibular aqueduct enlargement,in addition to these changes,12 ears were found malformation of vestibule and semicircular canals,and 7 ears were showed cochlea malformation.It is said that the disease is caused by abnormal development on endolymphatic duct in early embryonic stage,and the principal inducement is infectious factor.There is not an effective treatment,but the better results can be reached in deaf children with residual hearing,after they wearing hearing aids and getting the auditory-verbal training in the early period of time.If the hearing aid can not reach effective hearing compensation for these patients,cochlea implantation is considered and suggested.