Hearing Features and Cochlear Implantation Outcomes in Patients With Pathogenic MYO15A Variants: a Multicenter Observational Study.

OBJECTIVES: Recessive variants in the MYO15A gene constitute an important cause of sensorineural hearing impairment (SNHI). However, the clinical features of MYO15A-related SNHI have not been systemically investigated. This study aimed to delineate the hearing features and outcomes in patients with pathogenic MYO15A variants. DESIGN: This study recruited 40 patients with biallelic MYO15A variants from 31 unrelated families. The patients were grouped based on the presence of N-terminal domain variants (N variants). The longitudinal audiological data and for those undergoing cochlear implantation, the auditory and speech performance with cochlear implants, were ascertained and compared between patients with different genotypes. RESULTS: At the first audiometric examination, 32 patients (80.0%) presented with severe to profound SNHI. Patients with at least one allele of the N variant exhibited significantly better hearing levels than those with biallelic non-N variants (78.2 ± 23.9 dBHL and 94.7 ± 22.8 dBHL, respectively) (p = 0.033). Progressive SNHI was observed in 82.4% of patients with non-profound SNHI, in whom the average progression rate of hearing loss was 6.3 ± 4.8 dBHL/year irrespective of the genotypes. Most of the 25 patients who underwent cochlear implantation exhibited favorable auditory and speech performances post-implantation. CONCLUSIONS: The hearing features of patients with biallelic pathogenic MYO15A variants are characterized by severe to profound SNHI, rapid hearing progression, and favorable outcomes with cochlear implants. Periodic auditory monitoring is warranted for these patients to enable early intervention.

Simultaneous auricular reconstruction and transcutaneous bone conduction device implantation in patients with microtia.

BACKGROUND/PURPOSE: The Bonebridge (BB) is a newly designed transcutaneous bone conduction hearing implant. We describe, for the first time, simultaneous BB implantation and different surgical techniques of auricular reconstruction for microtia patients with aural atresia/stenosis. METHODS: Ten patients with unilateral or bilateral microtia underwent BB implantation combined simultaneously with either total auricular reconstruction using bespoke hand-carved Medpor framework or second stage auricular projection using autologous costal cartilage framework. Auditory aided and unaided sound fields were evaluated using (1) a pure-tone average (PTA4), (2) a speech reception threshold (SRT), and (3) a Speech Discrimination Score (SDS) at a sound level of 65 dB SPL. RESULTS: All patients and their families were satisfied with the aesthetic outcome of their constructed ears with no requests for further revision. No major complications were encountered. One patient developed minor partial skin graft epidermolysis that healed uneventfully, and another patient had a three month period of auditory acclimatization to the BB device that resolved. Postoperatively, the mean aided PTA4 decreased by 35.35 dB, while the SRT was 54.5 dB HL unaided and 28 dB HL with use of a BB sound processor. The SDS increased by 16.4%-65 dB SPL. CONCLUSION: Simultaneous BB implantation during either total auricular reconstruction or framework projection for microtia patients who have aural atresia/stenosis is feasible and safe. This approach reduces operative stages, thereby minimizing schooling/occupational disruption and time to total microtia reconstruction and auditory rehabilitation.

Importance of age at 2nd implantation and interimplant interval to the outcome of bilateral prelingually deafened pediatric cochlear implantation.

BACKGROUND: In Taiwan, the number of cases of sequential bilateral pediatric cochlear implantation (CI) is increasing but data regarding its effectiveness and impact of the reimbursement policy are lacking. We examined the speech perception and quality of life (QOL) of bilateral prelingually deaf children who underwent sequential CI, considering the effects of age at the time of second implantation and interimplant interval. METHODS: We enrolled 124 Mandarin-speaking participants who underwent initial cochlear implant (CI1) in 2001-2019 and a second CI (CI2) in 2015-2020. Patients were followed up for ≥2 years and were categorized into groups based on age at the time of CI2 implantation (<3.5, 3.6-7, 7.1-10, 10.1-13, and 13.1-18 years) and interimplant interval (0.5-3, 3.1-5, 5.1-7, 7.1-10, and >10 years). We evaluated speech perception, device usage rates, and QOL using subjective questionnaires (Speech, Spatial, and Qualities of Hearing and Comprehension Cochlear Implant Questionnaire). RESULTS: Speech perception scores of CI2 were negatively correlated with ages at the time of CI1 and CI2 implantation and interimplant interval. Older age and a longer interimplant interval were associated with higher nonuse rates for CI2 and worse auditory performance and QOL. Among individuals aged >13 years with interimplant intervals >10 years, up to 44% did not use their second ear. Patients aged 7.1 to 10 years had better speech perception and higher questionnaire scores than those aged 10.1 to 13 and 13.1 to 18 years. Furthermore, patients aged 10.1 to 13 years had a lower rate of continuous CI2 usage compared to those aged 7.1 to 10 years. CONCLUSION: Timely implantation of CI2 is essential to achieve optimal outcomes, particularly among sequentially implanted patients with long-term deafness in the second ear and no improvement with hearing aids following CI1 implantation. For CI2 implantation, an upper limit of age of 10 years and interimplant interval of 7 years are essential to prevent suboptimal outcomes. These data can provide useful information to implant recipients, their families, and medical and audiological professionals, enabling a comprehensive understanding of the benefits and potential impacts of the timing of CI2 implantation.

Correction: A Novel Convolutional Neural Network for the Diagnosis and Classification of Rosacea: Usability Study.

[This corrects the article DOI: 10.2196/23415.].

Surgical management of first branchial cleft anomaly presenting as infected retroauricular mass using a microscopic dissection technique.

PURPOSE: This is a detailed description of the clinical and anatomical presentation of the first branchial cleft anomaly presenting as retroauricular infected mass. Our experience with a microscopic dissection with control of the sinus lumen from within the cyst is also described. MATERIALS AND METHODS: Between 2001 and 2008, patients with the final histologic diagnosis of first branchial cleft anomaly in the retroauricular area were managed with a microscopic dissection technique with control of the sinus lumen from within the cyst. Classifications were done in accordance with Work, Olsen, and Chilla. Outcomes measured intervention as a function of disease recurrence and complications including facial nerve function was used. RESULT: Eight patients with a mean age of 14.2 years were enrolled, and this included 4 females and 4 males. Four type 1 and 4 type 2 lesions as per the Work's and Chilla's classification were found, and there were 5 sinuses, 2 fistulae, and 1 cyst according to Olsen's classification. All patients presented to the department with acute infection at the time of diagnosis. Five of the 8 patients had previous surgical treatment, 2 of those had up to 3 previous operations. None of the patients were complicated by disease recurrence or had surgical related complications (facial nerve paresis or paralysis, infection, canal stenosis) requiring reoperation with more than 1 year of follow-up. CONCLUSIONS: First branchial cleft anomaly presenting as retroauricular infected mass can be effectively treated by adopting a microscopic dissection technique with control of the sinus lumen from within the cyst.

Otologic and audiologic features of ethnic Chinese patients with Turner syndrome in Taiwan.

BACKGROUND/PURPOSE: Otologic and audiologic characteristics of Turner syndrome (TS) have been well documented in Caucasian-but not in Asian-populations. We report these features and possible causative factors for hearing loss in ethnic Chinese TS patients in Taiwan. METHODS: The study was a cross-sectional trial that analyzed patients diagnosed with TS. We enrolled patients for otologic evaluations and age-appropriate pure tone audiometry. To explore the potential associations with hearing loss, we studied patient karyotype, history of recurrent otitis media (OM) and various craniofacial anomalies. RESULTS: The 46 patients (mean age 17.3 years, range 5-34 years) enrolled, 22 (47.8%) had a history of recurrent OM. Otoscopic examination identified eardrum abnormalities in 45.6% of patients with myringosclerosis as the most common condition. A total of 21.7% patients showed auricular anomalies. Audiologic analysis revealed five cases (10.7%) with conductive hearing loss (CHL) and eight cases (17.4%) with sensorineural hearing loss (SNHL). Among patients with a history of recurrent OM, CHL prevailed (p = 0.0192) over SNHL (p = 0.1278). Karyotype and craniofacial anomalies were not associated with CHL or SNHL (p > 0.05). CONCLUSION: We found varying degrees of otologic and audiologic abnormalities among the TS in ethnic Chinese population. About one-half of the patients had recurrent OM, which was more likely to be associated with CHL in early life. Therefore, regular surveillance, early diagnosis, and the initiation of appropriate treatment are crucial in improving the hearing and speech in children with TS as well as in preventing short- and long-term associated complications.

Experience of adult cochlear implantation at a tertiary hospital.

BACKGROUND: The prevalence of adult cochlear implant (CI) surgery is increasing. However, the relevant adult CI data in Taiwan are insufficient due to the relatively small number of adult implant patients. The two main factors hindering adult implantation are the high cost of the surgery itself and inadequate knowledge regarding the effectiveness of CI for hearing and suppression of tinnitus. Here, we present data regarding adult CI outcomes from a single tertiary hospital. METHODS: A total of 116 consecutive adult CI recipients (≥18 years old) who completed at least 12 months of speech perception tests (words and sentences) between January 1999 and December 2020 were enrolled in this retrospective population-based cohort study. Thirty patients completed speech perception (words and sentences) testing as well as three questionnaires relating to quality of life, and 71 completed full tinnitus suppression studies. Subjects' pre- and post-CI questionnaires were evaluated to assess overall CI outcome. RESULTS: For auditory evaluation, the scores of easy sentences (ES), difficult sentences (DS), and phonetically balanced (PB) word recognition tests reached a plateau at 3 months post-CI (p = 0.005, 0.001, and 0.004, respectively) in most subjects. The post-CI scores of bodily pain, mental health, and social role functioning were significantly higher than corresponding pre-CI scores on the SF-36 Health Survey-Taiwan version (p = 0.036, 0.019, and 0.002, respectively). Furthermore, the post-CI scores of basic sound perception, speech production, and advanced sound perception were significantly higher than the corresponding pre-CI scores on the Nijmegen Cochlear Implant Questionnaire (p < 0.001, 0.013, and <0.001, respectively). Self-esteem was significantly correlated with the Categories of Auditory Performance scale and Speech Intelligibility Rating scale at 3, 6, and 9 months post-CI. CI improved tinnitus in approximately 65.1% of 71 adults. Based on the Tinnitus Handicap Inventory, 66.7% of patients were in grade 3-5 before surgery. However, after CI, only 34.4% of patients remained in THI grade 3-5. CONCLUSION: This study confirmed that CI can improve speech perception (words and sentences), physical health, mental health, social interaction, and self-esteem in adult patients with profound hearing loss. CI also significantly alleviated tinnitus. The outcomes of ES, DS, and PB tests at 3 months post-CI were non-inferior to other longer post-CI periods and could be utilized as references for recovery and evaluation of prognosis.

The effect of lexical tone experience on English intonation perception in Mandarin-speaking cochlear-implanted children.

To examine the effect of lexical tone experience on English intonation perception in Mandarin-speaking cochlear-implanted children during second language acquisition in Taiwan. A retrospective cohort study. A tertiary referred center. Fourteen children with cochlear implant (CI) in the experimental group, and 9 normal hearing children in the control group were enrolled in this study. Cochlear implantation and hearing rehabilitation. Two speech recognition accuracies were examined: (1) Lexical tone recognition (4-alternative forced choice, AFC), (2) English Sentence Intonation (2AFC). The overall accuracies for tone perception are 61.13% (standard deviation, SD = 10.84%) for CI group and 93.82% (SD = 1.80%) for normal hearing group. Tone 4 and Tone 1 were more easily to be recognized than tone 2 and tone 3 in the pediatric CI recipients (cCI) group. In English intonation perception, the overall accuracies are 61.82% (SD = 16.85%) for CI group, and 97.59% (SD = 4.73%) for normal hearing group. Significant high correlation (R = .919, P ≦ .000) between lexical tone perception and English intonation perception is noted. There is no significant difference for English intonation perception accuracies between Mandarin-speaking cCI (61.82%) and English-speaking cCI (70.13%, P = .11). Mandarin-speaking cochlear-implanted children showed significant deficits in perception of lexical tone and English intonation relative to normal hearing children. There was no tonal language benefit in Mandarin-speaking cochlear-implanted children's English intonation perception, compared to the English-speaking cochlear-implanted peers. For cochlear-implanted children, better lexical tone perception comes with better English intonation perception. Enhancing Mandarin prosodic perception for cochlear-implanted children may benefit their command of intonation in English.

Voice emotion recognition by Mandarin-speaking pediatric cochlear implant users in Taiwan.

OBJECTIVES: To explore the effects of obligatory lexical tone learning on speech emotion recognition and the cross-culture differences between United States and Taiwan for speech emotion understanding in children with cochlear implant. METHODS: This cohort study enrolled 60 cochlear-implanted (cCI) Mandarin-speaking, school-aged children who underwent cochlear implantation before 5 years of age and 53 normal-hearing children (cNH) in Taiwan. The emotion recognition and the sensitivity of fundamental frequency (F0) changes for those school-aged cNH and cCI (6-17 years old) were examined in a tertiary referred center. RESULTS: The mean emotion recognition score of the cNH group was significantly better than the cCI. Female speakers' vocal emotions are more easily to be recognized than male speakers' emotion. There was a significant effect of age at test on voice recognition performance. The average score of cCI with full-spectrum speech was close to the average score of cNH with eight-channel narrowband vocoder speech. The average performance of voice emotion recognition across speakers for cCI could be predicted by their sensitivity to changes in F0. CONCLUSIONS: Better pitch discrimination ability comes with better voice emotion recognition for Mandarin-speaking cCI. Besides the F0 cues, cCI are likely to adapt their voice emotion recognition by relying more on secondary cues such as intensity and duration. Although cross-culture differences exist for the acoustic features of voice emotion, Mandarin-speaking cCI and their English-speaking cCI peer expressed a positive effect for age at test on emotion recognition, suggesting the learning effect and brain plasticity. Therefore, further device/processor development to improve presentation of pitch information and more rehabilitative efforts are needed to improve the transmission and perception of voice emotion in Mandarin. LEVEL OF EVIDENCE: 3.

Cochlear Implantation Outcomes in Patients with Auditory Neuropathy Spectrum Disorder of Genetic and Non-Genetic Etiologies: A Multicenter Study.

With diverse etiologies and clinical features, the management of pediatric auditory neuropathy spectrum disorder (ANSD) is often challenging, and the outcomes of cochlear implants (CIs) are variable. This study aimed to investigate CI outcomes in pediatric patients with ANSD of different etiologies. Thirty-six children with ANSD who underwent cochlear implantation between 2001 and 2021 were included. Comprehensive etiological analyses were conducted, including a history review, next-generation sequencing-based genetic examinations, and imaging studies using high-resolution computed tomography and magnetic resonance imaging. Serial behavioral and speech audiometry were performed before and after surgery, and the outcomes with CI were evaluated using the Categories of Auditory Performance (CAP) and Speech Intelligibility Rating (SIR) scores. By etiology, 18, 1, 1, and 10 patients had OTOF-related, WFS1-related, OPA1-related, and cochlear nerve deficiency (CND)-related ANSD, respectively. Six patients had no definite etiology. The average CI-aided behavioral threshold was 28.3 ± 7.8 dBHL, and those with CND-related ANSD were significantly worse than OTOF-related ANSD. The patients' median CAP and SIR scores were 6 and 4, respectively. Favorable CI outcomes were observed in patients with certain etiologies of ANSD, particularly those with OTOF (CAP/SIR scores 5-7/2-5), WFS1 (CAP/SIR score 6/5), and OPA1 variants (CAP/SIR score 7/5). Patients with CND had suboptimal CI outcomes (CAP/SIR scores 2-6/1-3). Identifying the etiologies in ANSD patients is crucial before surgery and can aid in predicting prognoses.

Long-term language levels and reading skills in mandarin-speaking prelingually deaf children with cochlear implants.

The aim of this study was to document receptive and expressive language levels and reading skills achieved by Mandarin-speaking children who had received cochlear implants (CIs) and used them for 4.75-7.42 years. The effects of possible associated factors were also analyzed. Standardized Mandarin language and reading tests were administered to 39 prelingually deaf children with Nucleus 24 devices. The Mandarin Chinese version of the Peabody Picture Vocabulary Test was used to assess their receptive vocabulary knowledge and the Revised Primary School Language Assessment Test for their receptive and expressive language skills. The Graded Chinese Character Recognition Test was used to test their written word recognition ability and the Reading Comprehension Test for their reading comprehension ability. Raw scores from both language and reading measurements were compared to normative data of nor- mal-hearing children to obtain standard scores. The results showed that the mean standard score for receptive vocabulary measurement and the mean T scores for the receptive language, expressive language and total language measurement were all in the low-average range in comparison to the normative sample. In contrast, the mean T scores for word and text reading comprehension were almost the same as for their age-matched hearing counterparts. Among all children with CIs, 75.7% scored within or above the normal range of their age-matched hearing peers on receptive vocabulary measurement. For total language, Chinese word recognition and reading scores, 71.8, 77 and 82% of children with CIs were age appropriate, respectively. A strong correlation was found between language and reading skills. Age at implantation and sentence perception scores account for 37% of variance for total language outcome. Sentence perception scores and preimplantation residual hearing were revealed to be associated with the outcome of reading comprehension. We concluded that by using standard tests, the language development and reading skill of Mandarin-speaking children who use CIs from a young age appear to fall within the normal range of their hearing age mates, at least after 4.8-7.4 years of experience. However, to fully evaluate the fine linguistic skills of these subjects, a more detailed study and longer follow-up period are needed.

Prognostic Factors for Communication Improvement in Young Children After Cochlear Implant Surgery.

OBJECTIVE: Our objective was to examine the prognostic factors for post-cochlear implant (CI) communication improvement and determine whether the otologist's and speech-language pathologist's (SLP's) recommendations exhibited the same predictive performance regarding children's post-CI verbal expression acquisition. STUDY DESIGN: Retrospective, diagnostic study. SETTING: Hospital. PATIENTS: The study reviewed 339 medical charts of preschool children who underwent CI surgery before the age of 6 years during 1999 to 2016. After these medical charts were assessed, the cohort comprised of 79 preschool children with pre- and post-CI surgery speech-language assessment reports and medical records. INTERVENTION: A senior SLP and an otologist conducted blind testing of CI candidacy according to the 79 children's pre-CI reports. MAIN OUTCOME MEASURES: Spoken mean length of utterance (MLU). RESULTS: Children with superior skills in comprehending facial and gesture expressions or using gestures or sounds for expression were significantly more likely to receive the SLP's recommendation for CI surgery. The SLP's CI candidacy recommendation, based on background information, communication skill assessments, and magnetic resonance imaging (provided by an otologist), had significant predictive effects. Children recommended by the SLP exhibited a 20 times higher probability of benefiting from CI surgery; such a benefit would be a longer MLU after 2 years. CONCLUSION: CI candidacy testing for young children with prelingual hearing impairment based on a SLP's recommendations provided significant predictive effects. LEVEL OF EVIDENCE: 4 (Evidence from well-designed case-control or cohort studies).

Association between exposure to road traffic noise and hearing impairment: a case-control study.

PURPOSE: Noise pollution in urban areas is increasing steadily, and the study of road traffic noises and their effects on the auditory system was rare. This study investigated the potential effects of road traffic noise on auditory systems and hearing. METHODS: A case-control study recruited outpatients from the Otolaryngology department. The case group (n = 41) had binaural hearing loss (HL) of standard pure-tone average(PTA) ≥ 25 dB or high frequency PTA ≥ 25 dB, while the control group (n = 39) had binaural hearing level of any frequency < 25 dB. Detailed otologic evaluations were performed. Between-group data were evaluated using logistic regression analysis. Case or control group was identified based on the audiogram. RESULTS: A total of 80 subjects were recruited, including 41 with hearing impairment and 39 as control. The mean exposure level of road traffic noise was significantly higher in the case group than the control group (p = 0.005). A crude OR of 5.78 showed an increased risk of greater than 70 dB of road traffic noise on hearing impairment and tinnitus (p < 0.001). The aOR of 9.24 (p = 0.002) from a multiple variate analysis suggested that road traffic noise levels greater than 70 dB may have a damaging effect on hearing. Damaging effects on hearing persisted even after adjusting for confounders in the full multivariate model (aOR of 9.24 [95% CI: 2.198-38.869]; p = 0.002). CONCLUSIONS: Exposing to road traffic noise greater than 70 dB showed an increased risk of damage to the auditory system. These results might help public health administrators and physicians to develop programs that address the health dangers of noise.

A Novel Convolutional Neural Network for the Diagnosis and Classification of Rosacea: Usability Study.

BACKGROUND: Rosacea is a chronic inflammatory disease with variable clinical presentations, including transient flushing, fixed erythema, papules, pustules, and phymatous changes on the central face. Owing to the diversity in the clinical manifestations of rosacea, the lack of objective biochemical examinations, and nonspecificity in histopathological findings, accurate identification of rosacea is a big challenge. Artificial intelligence has emerged as a potential tool in the identification and evaluation of some skin diseases such as melanoma, basal cell carcinoma, and psoriasis. OBJECTIVE: The objective of our study was to utilize a convolutional neural network (CNN) to differentiate the clinical photos of patients with rosacea (taken from 3 different angles) from those of patients with other skin diseases such as acne, seborrheic dermatitis, and eczema that could be easily confused with rosacea. METHODS: In this study, 24,736 photos comprising of 18,647 photos of patients with rosacea and 6089 photos of patients with other skin diseases such as acne, facial seborrheic dermatitis, and eczema were included and analyzed by our CNN model based on ResNet-50. RESULTS: The CNN in our study achieved an overall accuracy and precision of 0.914 and 0.898, with an area under the receiver operating characteristic curve of 0.972 for the detection of rosacea. The accuracy of classifying 3 subtypes of rosacea, that is, erythematotelangiectatic rosacea, papulopustular rosacea, and phymatous rosacea was 83.9%, 74.3%, and 80.0%, respectively. Moreover, the accuracy and precision of our CNN to distinguish rosacea from acne reached 0.931 and 0.893, respectively. For the differentiation between rosacea, seborrheic dermatitis, and eczema, the overall accuracy of our CNN was 0.757 and the precision was 0.667. Finally, by comparing the CNN diagnosis with the diagnoses by dermatologists of different expertise levels, we found that our CNN system is capable of identifying rosacea with a performance superior to that of resident doctors or attending physicians and comparable to that of experienced dermatologists. CONCLUSIONS: The findings of our study showed that by assessing clinical images, the CNN system in our study could identify rosacea with accuracy and precision comparable to that of an experienced dermatologist.

Diffusion tensor imaging of the subcortical auditory tract in subjects with long-term unilateral sensorineural hearing loss.

Several indices including axial diffusivity (lambda(II)), radial diffusivity (lambda[see symbol in text]), mean diffusivity, and fractional anisotropy (FA) along the auditory pathway were extracted from diffusion tensor magnetic resonance images in 19 patients with unilateral sensorineural hearing loss (SNHL). Two regions of interest were selected bilaterally for evaluation: the lateral lemniscus and inferior colliculus. A significant decrease was observed in FA on the contralateral side in patients with SNHL due to an increase in lambda(II) while lambda[see symbol in text] remained unchanged. Although the orientation of neural fibers along the subcortical auditory pathway appeared to be intact, the reduction in FA and increase in lambda[see symbol in text] on the contralateral side might be attributed to axonal loss and/or demyelination.

Mutation screening in non-syndromic hearing loss patients with cochlear implantation by massive parallel sequencing in Taiwan.

OBJECTIVES: To explore the molecular epidemiology of rare deafness genes in Taiwanese sensorineural hearing impairment (SNHI) patients with cochlear implantation (CI) by performing massive parallel sequencing (MPS) and correlating genetic factors and CI outcomes. METHODS: We enrolled 41 Taiwanese non-syndromic deafness patients with CI that lacked known mutations in common deafness genes. All probands were screened by a targeted exon amplification method that used massively parallel sequencing to screen a customized panel that included 40 relatively rare non-syndromic deafness genes. RESULTS: Thirteen candidate variants in nine relatively rare deafness genes (MYO15A, TMC1, MYH14, MYO3A, ACTG1, COL11A2, DSPP, GRHL2, and WFS1) were identified in 24.4% (10/41) of the non-syndromic deafness probands with CI. According to the ACMG Standards and Guidelines, five variants in MYO15A and ACTG1 were classified as likely pathogenic variants. Two of three multi-generational pedigrees exhibiting deafness were analyzed for the segregation of the disorder with the possible disease-causing variants. Patients with variants detected in most of the identified variant-bearing genes showed relatively good CI outcomes. CONCLUSIONS: We successfully identified candidate variants in partially deaf Taiwanese probands who lacked the known mutations in common deafness genes. Comparing the progress of hearing rehabilitation in CI patients with their apparent causative variants and the expression profiles of their altered genes allowed us to speculate on how alterations in specific gene sets may influence outcomes in hearing rehabilitation after CI.

Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.

Hereditary hearing impairment (HHI) is a common but heterogeneous clinical entity caused by mutations in a plethora of deafness genes. Research over the past few decades has shown that the genetic epidemiology of HHI varies significantly across populations. In this study, we used different genetic examination strategies to address the genetic causes of HHI in a large Taiwanese cohort composed of >5000 hearing-impaired families. We also analyzed the clinical features associated with specific genetic mutations. Our results demonstrated that next-generation sequencing-based examination strategies could achieve genetic diagnosis in approximately half of the families. Common deafness-associated genes in the Taiwanese patients assessed, in the order of prevalence, included GJB2, SLC26A4, OTOF, MYO15A, and MTRNR1, which were similar to those found in other populations. However, the Taiwanese patients had some unique mutations in these genes. These findings may have important clinical implications for refining molecular diagnostics, facilitating genetic counseling, and enabling precision medicine for the management of HHI.

Intellectual ability of Mandarin-speaking children using cochlear implants.

The aim of this study was to assess the verbal and performance intelligence of young Mandarin-speaking cochlear implant users with the Wechsler Intelligence Scale for Children (WISC). We also analyzed whether related factors helped develop verbal and performance IQs. We studied 60 children implanted with Nucleus 24 devices; the children represented a consecutive sample of every implantee aged 6 or older from 2002 to 2006. All subjects had 1 year to 8 years and 7 months of implant experience. Five children with known neurological, developmental delay and multiple handicaps were excluded. Intellectual functions were evaluated using the Mandarin version of the WISC-III, which includes 5 subsets for verbal IQ (information, comprehension, similarities, arithmetic and vocabulary) and 5 subsets for performance IQ (picture completion, picture arrangement, block design, object assembly and coding). After conversion, we found that the mean verbal IQ was 85.1 +/- 19.9 (range 56-133), and the mean performance IQ was 99.2 +/- 15.9 (range 61-131). The distribution of verbal IQ was significantly different from that of the hearing population. A much larger proportion (32%) falls into the category of 'intellectual deficiency' and a relatively smaller proportion in the 'average' and 'above average' level. As for performance IQ, the distribution was not significantly different from the norms. Regarding the possibly related factors, univariate and multivariate linear regression showed that the verbal IQ was significantly affected by gender (female > male, p = 0.004), side of implantation (bilateral > left > right, p = 0.017) and two speech test scores (PB score, p = 0.036; sentence, p = 0.002), but not by age at implantation (p = 0.621) or length of implant usage (p = 0.480). Only a moderate correlation (r = 0. 49) was found between verbal and performance IQ. In conclusion, we have demonstrated that the performance IQ for the cochlear implant users is not different from their counterparts with normal hearing. However, the distribution of verbal IQ significantly shifts to the left. Our findings suggest that the verbal IQ test may just be another measurement of spoken language outcomes or learning skills and therefore may not represent the 'true intelligence' of these cochlear implant users.

Association of Ménière disease with human leukocyte antigen in Taiwanese population.

The etiology of Ménière disease (MD) is multifactorial; genetic factors seem to play an important role. The associations between MD and human leukocyte antigen (HLA) status have been studied previously in several populations and have shown that the HLA alleles imparting susceptibility varied. In the present study, we explored HLA status in Taiwanese patients with definitive MD. HLA was typed via polymerase chain reaction, sequence-specific oligonucleotide genotyping in 35 patients with MD diagnosed using the criteria of the American Academy of Otolaryngology-Head and Neck Surgery and 70 unrelated healthy controls. HLA allele association tests were used to evaluate differences in allelic frequencies between the patients and controls. The allelic frequency of HLA-A*11 was significantly greater in MD patients than in controls (52.9 vs. 31.4%, odds ratio: 2.45, 95% confidence interval: 1.4 to 4.4, p = 0.004, p corrected = 0.03). Thus, A*11 may be a useful HLA biomarker in Taiwanese patients with MD. Further larger-scale studies are required.

Pediatric cochlear implantation in Taiwan: long-term communication outcomes.

OBJECTIVES/HYPOTHESIS: Cochlear implantation is an established method of auditory rehabilitation for severely and profoundly hearing impaired individuals. Although numerous studies have examined communication outcomes in pediatric cochlear implant (CI) recipients, data concerning the benefits of cochlear implantation in children who speak Mandarin Chinese are lacking. This study examined communication outcomes in 29 Mandarin-speaking children implanted at Chung Gung Memorial Hospital. DESIGN: A prospective between-groups design was used to compare communication outcomes as a function of age at time of implantation. METHODS: Children in the Younger group were implanted before 3 years of age, whereas children in the Older group were implanted after 3 years of age. Outcome measures assessed auditory thresholds, speech perception, speech intelligibility, receptive and expressive language skills, communication barriers, and communication mode. Correlation analysis was used to examine the relationship between communication outcome and age at implantation. RESULTS: Children in the Younger group demonstrated a significant level of difference on Mandarin vowels, consonants, tones, and open-set speech perception compared with the children in the Older group. Between-group differences were also shown on receptive and expressive language skills. But, no significant differences were noted on speech intelligibility or in self-ratings of communication barriers. A larger proportion of children in the Younger group used oral communication and were educated in mainstream classrooms. Communication mode change of the Younger group reached a significant level after cochlear implant. Speech perception performance was negatively correlated with age at implantation as well as chronological age. Mandarin-speaking children can obtain substantial communication benefits from cochlear implantation, with earlier implantation yielding superior results.