Modified Sistrunk Procedure in 391 Pediatric Thyroglossal Duct Cyst Cases: Clinical Analysis of Efficacy and Recurrence Risk.

Objectives: The study aims to retrospectively summarize the clinical features of pediatric thyroglossal duct cyst (TGDC), investigate the efficacy of the modified Sistrunk (mSis) procedure, and analyze the recurrence risks. Methods: The clinical data of 391 children with TGDC admitted to Beijing Children's Hospital affiliated Capital Medical University and Baoding Children's Hospital from March 2012 to December 2021 were retrospectively analyzed. All patients underwent cervical ultrasound for preoperative evaluation. Twenty cases had magnetic resonance imaging and 8 cases had computed tomography for further evaluation. All patients underwent the standard mSis procedure, and clinical manifestations information, surgical information, complications, and prognosis were analyzed. Results: Among the 391 TGDC cases, 118 (30.2%) had a history of recurrent neck infection and 36 (9.2%) had undergone previous neck cyst and fistula resection surgeries, initially diagnosed as neck cyst (22 cases), TGDC (12 cases), or branchial fistula (2 cases), with only 6 cases having undergone partial hyoid bone resection in the previous operation. During the 15 to 156 months of follow-up, 10 children experienced local wound infection, but no other complications were reported. The recurrence rate was 2.30%, and the recurrence time ranged from 0.5 to 34 (average, 7.2) months post surgery. In the Poisson regression model examining factors related to recurrence, the P values of the 3 factors were <.05: clearness of the lesion boundary, surgical history, and maximum diameter and the relative risk (RR) values corresponding to the 3 risk factors, such as Exp (B), were 27.918, 10.054, and 6.606, respectively. Conclusions: The mSis procedure demonstrated safety and efficacy with fewer complications and a low recurrence rate of 2.30% in the study. Furthermore, the indistinct lesion boundary, surgical history, and large lesion diameter (>2 cm) were independent risk factors for recurrence in pediatric TGDC.Level of Evidence: IV.

[Surgical methods of cerebrospinal fluid otorhinorrhea due to inner ear malformation in children].

Objective:To discuss the application of two surgical methods, trans-mastoid approach and trans-canal endoscopic approach, in the treatment of CerebroSpinal Fluid（CSF） otorhinorrhea due to inner ear malformation（IEM） in children. Methods:Children with CSF otorhinorrhea due to IEM, from July 2015 to Jan 2021, in ENT department, Beijing Children's Hospital were retrospectively analyzed, and the clinical data, surgical methods, complications, recurrence and follow-up were recorded. Results:30 children with CSF otorhinorrhea due to IEM were included. Half of them had a history of otorhinorrhea, and 53.3% of them were diagnosed as cerebrospinal fluid（CSF） otorrhea at the first onset Unilateral and bilateral IEM were 22 cases and 8 cases respectively. All unilateral IEM children had secondary infections such as meningitis or/and pneumonia, and 9.1% had cochlear implantation（CI） due to deafness after meningitis. 87.5% bilateral IEM children had CI due to profound/severe hearing loss. 96.7% CSF otorhinorrhea were unilateral, there was no relationship between CSF otorhinorrhea and the malformation side or the time of CI surgery. Trans-mastoid approach was used in 14 cases, usually involving CI or other operations; and endoscopic approach in 16 cases. The age of trans-mastoid group was younger than that of endoscopic group. No recurrence and complications occured in the trans-mastoid group. In the endoscopic group, 2 cases recurred; 3 cases had complications（2 with temporary facial paralysis and 1 with labyrinth and intracranial pneumatosis）. Except one case lost, the others were followed up for 1.2-6.7 years, and no recurrence of pneumonia, meningitis and CSF otorhinorrhea happened. Conclusion:Unilateral IEM usually leads to meningitis or/and pneumonia, and bilateral IEM requires CI. Both trans-mastoid and trans-canal endoscopic approach were effective for CSF otorrhea repair. Trans-mastoid approach is suitable for those who need mastoid exploration, CI or combined with other operations. Trans-canal endoscopic approach was choosed when fistula was confined to the tympanum and ear canal diameter was wide enough.

The Significance of Staging in the Treatment of Congenital Cholesteatoma in Children.

OBJECTIVES: To analyze the clinical characteristics of congenital cholesteatoma (CC), to explore the risk factors related to recurrence of the disease, and to clarify the importance of staging for treatment. METHODS: A total of 87 patients were followed up for more than 5 years, who had undergone surgical procedures for CC from September 2010 to January 2017 in Beijing Children's Hospital, Capital Medical University. Patients with CC were identified in accordance with the following Levenson's criteria. The clinical characteristics of CC on different stage and risk factors related to recurrence of the disease were analyzed. RESULTS: Canal wall up mastoidectomy and tympanoplasty (n = 45), transcanal endoscopic approach (n = 29), and canal wall down mastoidectomy and tympanoplasty (n = 13) was, respectively, performed depending on cholesteatoma extension. Between 2010 and 2013, 20.93% of patients had stage I-II disease, whereas 61.26% had stage I-II disease from 2014 to 2017. Meanwhile, the proportion with stage III-IV disease decreased from 79.07% to 38.64% between these 2 time periods. The preoperative air conduction threshold in patients with stage I, II, III, and IV was, respectively, 23.36 ± 8.20, 45.40 ± 12.82, 47.49 ± 12.03, and 50.37 ± 11.80 dB. The stage of disease was a significant risk factor regarding recurrence (P = .02). Surgery on patients with stage III-IV disease was performed with the aid of a microscope from 2010 to 2013 and with a microscope and endoscope from 2014 to 2017, which reduced the recurrence rate from 26.92% in the former period to 8.33% in the latter period. CONCLUSION: Early detection of CC is crucial regarding the facilitation of minimally invasive surgery and reducing complication and recurrence rates. The stage of the disease is a significant risk factor regarding recurrence. The surgery shows us the possibility of reducing the recurrence rate of CC, which is performed under a microscope and an endoscope.

[The short-term and long-term efficacy of balloon dilatation Eustachian tuboplasty and tympanostomy tubes in children patients with recurrent otitis media with effusion].

Objective:To evaluate the short-term and long-term efficacy of balloon dilatation Eustachian tuboplasty（BET） and insertion of tympanostomy tubes in the treatment of recurrent otitis media with effusion（OME） in children, and to provide new ideas for the treatment of OME. Method:We made a retrospective analysis of 29 OME patients who had accepted BET and insertion of tympanostomy tubes in Beijing Children's Hospital. Their case history, the past history of insertion of tympanostomy tubes or adenoidectomy, and the audiometry and Eustachian tube function before surgery and 1 month, 6 months, 9 months, 12 months, 18 months, 24 months and 36 months after surgery were recorded. Statistical software was used to evaluate the recovery of Eustachian tube function and the prognosis of OME. Result:The average pure tone audiometry（PTA） of 29 patients was 17.5, 22.5, 18.5, 22.5, 18.5, 22.5, 22.5 dB at 1 month, 6 months, 9 months, 12 months, 18 months, 24 months and 36 months postoperatively. All the 29 patients'PTA was normal. ETS before surgery was 2.404±2.168. ETS of 1 month, 6 months, 9 months and 12 months after surgery was 4.064±3.003, 5.230±2.790, 5.787±2.170, 6.490±2.292 respectively. There was significant difference between preoperative and postoperative（P<0.01）. Conclusion:BET was a safe and reliable surgery for the treatment of OME in children. Its obvious effect was manifested at least 9 months after surgery. Therefore, tympanostomy tubes and BET were recommended doing at the same time for the treatment of OME with eustachian tube dysfunction. At the same time, in order to decrease the risk of recurrent OME, we recommended to take the tubes out until 12 months after surgery.

Clinical evaluation of cochlear implantation in children younger than 12 months of age.

IMPORTANCE: Cochlear implantation (CI) is an effective therapy for patients with severe to profound sensorineural hearing loss. It remains controversial whether children younger than 12 months of age should undergo CI. OBJECTIVE: To evaluate the safety and effectiveness of CI in children younger than 12 months of age. METHODS: We performed a retrospective study of clinical data of pediatric patients younger than 12 months of age who underwent CI and were followed up for 1 to 2 years. Patients' developmental levels were evaluated by the Gesell score before CI. Intraoperative and postoperative complications were recorded to evaluate the safety of CI. Auditory and speech abilities were scored by the LittlEARS® auditory questionnaire (LEAQ), categories of auditory performance (CAP), speech intelligibility rating (SIR), infant-toddler meaningful auditory integration scale (IT-MAIS), and meaningful use of speech scale (MUSS) at 1, 2, 3, 6, 9, and 12 months after CI. The associations between clinical characteristics before CI and postoperative scores at 1 year after CI were analyzed by the linear mixed-effects model. RESULTS: Eighty-nine children (47 boys and 42 girls) were included in this study (mean age at CI, 9.2 ± 1.6 months). Sixteen patients were diagnosed with cochlear malformation and 16 underwent bilateral CI. No severe complications occurred in any patients. The mean developmental quotient of the Gesell score was 78.00 ± 10.03. The median LEAQ scores were 0, 5, 10, 16, 22, 26 and 30 before and at 1, 2, 3, 6, 9, and 12 months after CI, respectively. These findings implied that the LEAQ score greatly improved in the first year after CI. The overall CAP, SIR, IT-MAIS, and MUSS scores also increased with increasing duration after CI. No significant associations were detected between clinical characteristics (age, sex, implant number, pre-CI Gesell score, and inner ear malformation) and LEAQ outcomes at 12 months after CI. INTERPRETATION: With increasing duration after CI, auditory and speech behavior dramatically improve in young children. Our findings indicate that CI is feasible for children younger than 12 months of age.

Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China.

Concurrent hearing and genetic screening of newborns is expected to play important roles not only in early detection and diagnosis of congenital deafness, which triggers intervention, but also in predicting late-onset and progressive hearing loss and identifying individuals who are at risk of drug-induced HL. Concurrent hearing and genetic screening in the whole newborn population in Beijing was launched in January 2012. This study included 180,469 infants born in Beijing between April 2013 and March 2014, with last follow-up on February 24, 2018. Hearing screening was performed using transiently evoked otoacoustic emission (TEOAE) and automated auditory brainstem response (AABR). For genetic testing, dried blood spots were collected and nine variants in four genes, GJB2, SLC26A4, mtDNA 12S rRNA, and GJB3, were screened using a DNA microarray platform. Of the 180,469 infants, 1,915 (1.061%) were referred bilaterally or unilaterally for hearing screening; 8,136 (4.508%) were positive for genetic screening (heterozygote, homozygote, or compound heterozygote and mtDNA homoplasmy or heteroplasmy), among whom 7,896 (4.375%) passed hearing screening. Forty (0.022%) infants carried two variants in GJB2 or SLC26A4 (homozygote or compound heterozygote) and 10 of those infants passed newborn hearing screening. In total, 409 (0.227%) infants carried the mtDNA 12S rRNA variant (m.1555A>G or m.1494C>T), and 405 of them passed newborn hearing screening. In this cohort study, 25% of infants with pathogenic combinations of GJB2 or SLC26A4 variants and 99% of infants with an m.1555A>G or m.1494C>T variant passed routine newborn hearing screening, indicating that concurrent screening provides a more comprehensive approach for management of congenital deafness and prevention of ototoxicity.

Comparison of the development of early auditory and preverbal skills in Mandarin-Speaking children with cochlear implants with and without additional disabilities.

Background: Few studies had assessed the auditory and preverbal skills of very young cochlear implant (CI) children with additional disabilities (AD) over a long period, especially in China.Aims/Objectives: The aim of this study was to compare the early auditory and preverbal developmental trajectories in CI children with and without AD.Material and Methods: The LittlEARS® Auditory Questionnaire (LEAQ) was employed. 29 typically developing (TD) children and 17 with AD were involved (age at implantation less than 2 years).Results: All children showed significant improvement in total LEAQ scores with CI use. Children with cerebral palsy (CP), developmental delay (DD) and white matter lesions (WML) scored lower than TD children since 3 months of CI use; a decreasing trend was observed from 24, 18 and 18 months of CI use, respectively. Children with higher nonverbal developmental quotients exhibited superior early auditory and preverbal skills.Conclusions and significance: The development of early auditory and preverbal skills among CI-using children progressed more slowly in those with AD (CP, DD or WML) than in TD children, but the differences between the two groups gradually diminished over time. Nonverbal cognitive status has a positive effect on early auditory and preverbal abilities.

Correction to: Compare two surgical interventions for otitis media with effusion in young children.

In the original publication, Table 5 and 6 were interchanged by mistake. The correct tables are given here.

Compare two surgical interventions for otitis media with effusion in young children.

OBJECTIVE: To prospectively evaluate the effect of tympanostomy tubes combined with adenoidectomy and tube insertion on treatment for otitis media with effusion in young children, and to analyze the related factors of prognosis and recurrence of the disease. METHODS: The clinical and follow-up data of 184 children with otitis media with effusion who were treated in the department of Otolaryngology, Head and Neck Surgery, Beijing Children's Hospital, Capital Medical University from September 2013 to January 2015, were reviewed systematically. According to different surgical methods, they were randomly divided into the observation group in which patients were treated with tube insertion combined with adenoidectomy, and control group in which the rest underwent simple tube insertion. The curative effect, changes of air conduction hearing threshold before and after surgery, the healing time of tympanic membrane and recurrence of middle ear effusion were compared between the two groups. Influencing factors of recurrence of otitis media with effusion were analyzed, and the effect of healing time on tympanic membrane after tube removal was observed. RESULTS: The total effective rate of treatment in the observation group was higher than that in the control group (91.84% vs 80.23%, P < 0.05), and the air conduction hearing thresholds in two groups were decreased significantly at 3 months and 6 months after surgery, respectively (P < 0.05). The total effective rate of children under 4 years old in the observation group was also higher than that in the control group. The duration of middle ear effusion and the recurrence rate in the observation group were shorter/lower than those in the control group (P < 0.05). Analysis showed that recurrent respiratory tract infection before surgery and retention time of ventilating tube shorter than 12 months were risk factors for recurrence of otitis media with effusion, while adenoidectomy was a protective factor. Besides, the tympanic membrane healing time of the tympanic membrane tube for 1 years was shorter than that of the tympanic membrane tube for more than one year (P < 0.05). The persisted perforation rate is 3.57% in less 12 months of tube, as opposed to it was 12% in more 12 months of tube (P < 0.05). CONCLUSIONS: Tube insertion combined with adenoidectomy is more effective than tympanostomy tubes in the treatment of young children with OME, and the same results were found for children under four years of age. It can significantly shorten the duration of middle ear effusion and reduce the recurrence rate after surgery. For 3-6 year-old children, the upper respiratory tract infection and short ventilation tube indwelling time increase the possibility of OME recurrence, it is recommended that the ventilation tube should be retained for at least 12 months.

Health-Related Quality of Life in Mandarin-Speaking Children With Cochlear Implants.

OBJECTIVES: The primary aim of this study was to evaluate the health-related quality of life (HRQoL) of children with cochlear implants (CIs) from the parental perspective. The secondary objective was to explore possible relationships between demographic variables (such as age at assessment, gender, age at implantation, and duration of language rehabilitation) and the HRQoL. The third objective was to determine the developmental trajectories of HRQoL. DESIGN: This study included parents of 123 children with CIs (mean age, 40.45 months; mean age of CI implantation, 24.74 months; mean device experience, 16.34 months). The time periods for follow-up were at 0, 1, 2, 3, 6, and 12-month intervals of CI use. The Mandarin Children with Cochlear Implants: Parental Perspectives questionnaire was employed to assess HRQoL. RESULTS: Parents were satisfied with HRQoL, especially with the domain of social relations; however, education received a less positive rating. The duration of CI use was positively correlated with 5 domains, suggesting that children who used CIs for a longer time had higher HRQoL ratings. Children with longer language rehabilitation received more positive ratings in the domains of social relations and education (p < 0.05); children whose mothers had higher education levels received more positive ratings in the domain of general functioning (p < 0.05); children living in cities received more positive ratings in the domains of communication, general functioning and self-reliance (p < 0.05). Girls received more positive rating than boys in the domain of well-being (p < 0.05). No significant correlation was found between age at implantation, age at assessment, only child status, and HRQoL. All domains showed clear increases in the duration of CI use; the majority of the domains showed steeper progress over the first 3 months of CI use. Communication exhibited the most rapid progress, with education progressing at a slower rate. CONCLUSIONS: Parents were satisfied with all domains of HRQoL. Almost all domains exhibited rapid progress over the first 3 months of CI use, with education progressing at a slower rate. This research underscores the importance of language rehabilitation by revealing that strengthening language rehabilitation could be an effective means of improving the HRQoL of children with CIs.

Early auditory skills development in Mandarin speaking children after bilateral cochlear implantation.

OBJECTIVES: The purpose of the present study was: (1) to investigate the early auditory preverbal behaviors of infants/toddlers with bilateral cochlear implants (BCI), and to compare their performance with that of unilateral cochlear implant (UCI) peers; (2) to investigate effects of age of implantation, education level of caregivers, living environment, and unaided behavioral threshold before operation on early auditory preverbal development. METHODS: The evaluation material of the present study was the Mandarin version of the LittlEARS® Auditory Questionnaire (LEAQ). Assessments were administrated at 0, 1, 2, 3, 6, 9, 12 and 24 months after cochlear implants (CIs) were switched on. A one-way ANOVA was used to analyze the differences of early auditory preverbal performance between each two contiguous test intervals. A two-sample t-test was used to analyze the difference of behaviors between infants/toddlers with BCI and UCI. Non-parametric tests were used to analyze the effects of potential affecting factors on auditory preverbal skills. RESULTS: Nineteen subjects aging from 9 to 54 months (Mean = 22.7, SD = 13.7) were recruited in the study. At each evaluation time, the average scores of LEAQ were 4.58, 9.00, 16.00, 18.56, 22.00, 31.50, 29.67, and 34.35 respectively. The total score and semantic auditory behavior score increased significantly during the second months after CIs activation (the total score: LSD-t = 3.157, p = 0.030; semantic auditory behavior score: LSD-t = 1.972, p = 0.034). The score of BCI group was significantly higher than UCI group after 1, 3 and 6 months of CI use (1 month: t = 3.257, p = 0.002; 3 months: t = 5.042, p = 0.000; 6 months: t = 4.054, p = 0.000). Education level of caregivers had a positive effect on receptive auditory behavior (H = 6.538, p = 0.035) after CIs switched on for 3 months. The LEAQ performance was not significantly correlated with pre-operative behavioral threshold although they showed a trend of negative correlation in the first 3 months after activation. CONCLUSION: The study indicated that infants and toddlers who underwent BCI had better auditory preverbal skills than their UCI peers. Higher caregivers' education level positively correlated with the early development of auditory preverbal skills. Better pre-operative behavioral threshold might also benefit early auditory preverbal skills development for BCI children.

Clinical analysis of first branchial cleft anomalies in children.

IMPORTANCE: First branchial cleft anomaly (FBCA) is a rare disease that is difficult to diagnose and is associated with a high rate of complications. However, the difference between two types of FBCA and how to avoid complications are not clear enough. OBJECTIVE: We retrospectively analyzed type I and II (Work's classification) FBCAs in children to demonstrate the difference between the two types of FBCAs, especially with respect to understanding the relationship between FBCAs and the facial nerve. METHODS: We retrospectively reviewed patients with FBCAs who were treated in Beijing Children's Hospital from 2013 to 2017. The patients' clinical data, relationship of the FBCA with the facial nerve, and postoperative complications were recorded. RESULTS: The study included 70 patients with FBCAs. In total, 41 (58.6%) patients had a type I FBCA, and 29 (41.1%) had a type II FBCA. A cystic mass was present in 34 (48.6%) patients. Sixty-two (88.6%) patients had a history of incision and drainage and nine (12.8%) had a history of excision surgery in other hospitals. The accuracy rate of magnetic resonance imaging was higher than ultrasound and much higher than computed tomography. Thirty-eight (92.7%) type I FBCAs had no close relationship with the facial nerve. The facial nerve in 14 (48.3%) patients with type II FBCAs was located superficial to and above the mass. Fifteen (51.7%) type II facial nerves were located on the deep side of the mass. All patients in the study had an abnormal external auditory canal (EAC). Three patients had temporary facial palsy that resolved within one week. Eleven patients with type I FBCAs had mild EAC stenosis. No recurrence was observed. INTERPRETATION: Type II FBCAs had a close relationship with the facial nerve, especially when the lesion was located in the mandible angle. All patients with FBCAs had an EAC abnormality. The abnormal skin and cartilage of the EAC should be excised together to avoid recurrence.

The treatment for the first branchial cleft anomalies in children.

The objective of this study is to make a clinical analysis for first branchial cleft anomalies (FBCAs), especially introduce the relationship between the Type I/II FBCA with the facial nerve and to demonstrate the importance of using intraoperative microscope and facial nerve monitoring. This is a retrospective review of patients with FBCAs treated in Beijing Children's Hospital, from Jan 2013 to Dec 2015. Clinical data of patients, including sex, age, chief complains, history of surgery, incision and drainage, the relationship with the facial nerve, pre and post-operative facial paralysis, recurrent rate and complications were recorded. FBCAs were divided into two subtypes according to Work's Classification. All patients had an MRI examination for diagnosis and to locate the lesions before surgery. Both microscope and facial nerve monitors were routinely used for detecting and protecting the facial nerve. The study cohort included 42 patients with ages ranging from 10 months to 14 years. The chief complaint was recurrent swelling or abscess near the ear or angle of mandibular. 76.2% of them (32/42) had incision and drainage histories. Two of them had suffered from facial palsy during the infectious period. Seven patients had undergone surgeries once or twice in other hospitals. Four patients with Type II FBCAs developed temporary facial palsy. We had follow-ups for each patient from 3 months to 3 years. 4 (9.5%) patients with Type I FBCA had got postoperative external auditory canal (EAC) stenosis. There were no cases of recurrence. Type II FBCAs has closer relationship with facial nerve than Type I FBCAs. The facial nerve of Type II FBCAs may lie more superficially and ascending to the fistula. Intraoperative microscope and facial nerve monitoring were necessary for protecting the facial nerve and decreasing the recurrent rate.

Deafness gene mutations in newborns in Beijing.

OBJECTIVE: To determine the incidence of congenital hearing loss (HL) in newborns by the rate of deafness-related genetic mutations. DESIGN: Clinical study of consecutive newborns in Beijing using allele-specific polymerase chain reaction-based universal array. STUDY SAMPLE: This study tested 37 573 newborns within 3 days after birth, including nine sites in four genes: GJB2 (35 del G, 176 del 16, 235 del C, 299 del AT), SLC26A4 (IVS7-2 A > G, 2168 A > G), MTRNR1 (1555 A > G, 1494 C > T), and GJB3 (538 C > T). The birth condition of infants was also recorded. RESULTS: Of 37 573 newborns, 1810 carried pathogenic mutations, or 4.817%. The carrier rates of GJB2 (35 del G, 176 del 16, 235 del C, 299 del AT), GJB3 (538 C > T), SLC26A4 (IVS7-2 A > G, 2168 A > G), and MTRNR1 (1555 A > G, 1494 C > T) mutations were 0.005%, 0.104%, 1.924%, 0.551%, 0.295%, 0.253%, 1.387%, 0.024%, and 0.274%, respectively. Logistic regression analysis indicated no statistically significant relationship between mutations and infant sex, premature delivery, twin status, or birth weight. CONCLUSIONS: The 235delC GJB2 mutation was the most frequent deafness-related mutation in the Chinese population. Genetic screening for the deafness gene will help detect more cases of newborn congenital HL than current screening practices.

GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.

BACKGROUND: Mutations in GJB2 are the most common molecular defects responsible for autosomal recessive nonsyndromic hearing impairment (NSHI). The mutation spectra of this gene vary among different ethnic groups. METHODS: In order to understand the spectrum and frequency of GJB2 mutations in the Chinese population, the coding region of the GJB2 gene from 2063 unrelated patients with NSHI was PCR amplified and sequenced. RESULTS: A total of 23 pathogenic mutations were identified. Among them, five (p.W3X, c.99delT, c.155_c.158delTCTG, c.512_c.513insAACG, and p.Y152X) are novel. Three hundred and seven patients carry two confirmed pathogenic mutations, including 178 homozygotes and 129 compound heterozygotes. One hundred twenty five patients carry only one mutant allele. Thus, GJB2 mutations account for 17.9% of the mutant alleles in 2063 NSHI patients. Overall, 92.6% (684/739) of the pathogenic mutations are frame-shift truncation or nonsense mutations. The four prevalent mutations; c.235delC, c.299_c.300delAT, c.176_c.191del16, and c.35delG, account for 88.0% of all mutantalleles identified. The frequency of GJB2 mutations (alleles) varies from 4% to 30.4% among different regions of China. It also varies among different sub-ethnic groups. CONCLUSION: In some regions of China, testing of the three most common mutations can identify at least one GJB2 mutant allele in all patients. In other regions such as Tibet, the three most common mutations account for only 16% the GJB2 mutant alleles. Thus, in this region, sequencing of GJB2 would be recommended. In addition, the etiology of more than 80% of the mutant alleles for NSHI in China remains to be identified. Analysis of other NSHI related genes will be necessary.