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The OTOF gene (Locus: DFNB9), encoding otoferlin, is reported to be one of the major causes of non-syndromic recessive sensorineural hearing loss, and is also reported to be the most common cause of non-syndromic recessive auditory neuropathy spectrum disorder (ANSD). In the present study, we performed OTOF mutation analysis using massively parallel DNA sequencing (MPS). The purpose of this study was to reveal the frequency and precise genetic and clinical background of OTOF-related hearing loss in a large hearing loss population. A total of 2,265 Japanese sensorineural hearing loss (SNHL) patients compatible with autosomal recessive inheritance (including sporadic cases) from 53 otorhinolaryngology departments nationwide participated in this study. The mutation analysis of 68 genes, including the OTOF gene, reported to cause non-syndromic hearing loss was performed using MPS. Thirty-nine out of the 2,265 patients (1.72%) carried homozygous or compound heterozygous mutations in the OTOF gene. It is assumed that the frequency of hearing loss associated with OTOF mutations is about 1.72% of autosomal recessive or sporadic SNHL cases. Hearing level information was available for 32 of 39 patients with biallelic OTOF mutations; 24 of them (75.0%) showed profound hearing loss, 7 (21.9%) showed severe hearing loss and 1 (3.1%) showed mild hearing loss. The hearing level of patients with biallelic OTOF mutations in this study was mostly severe to profound, which is consistent with the results of past reports. Eleven of the 39 patients with biallelic OTOF mutations had been diagnosed with ANSD. The genetic diagnosis of OTOF mutations has significant benefits in terms of clinical decision-making. Patients with OTOF mutations would be good candidates for cochlear implantation; therefore, the detection of OTOF mutations is quite beneficial for patients, especially for those with ANSD.

A heterozygous mutation in the Wolfram syndrome type 1 gene (WFS1) causes autosomal dominant nonsyndromic hereditary hearing loss, DFNA6/14/38, or Wolfram-like syndrome. To date, more than 40 different mutations have been reported to be responsible for DFNA6/14/38. In the present study, WFS1 variants were screened in a large series of Japanese hearing loss (HL) patients to clarify the prevalence and clinical characteristics of DFNA6/14/38 and Wolfram-like syndrome. Massively parallel DNA sequencing of 68 target genes was performed in 2,549 unrelated Japanese HL patients to identify genomic variations responsible for HL. The detailed clinical features in patients with WFS1 variants were collected from medical charts and analyzed. We successfully identified 13 WFS1 variants in 19 probands: eight of the 13 variants were previously reported mutations, including three mutations (p.A684V, p.K836N, and p.E864K) known to cause Wolfram-like syndrome, and five were novel mutations. Variants were detected in 15 probands (2.5%) in 602 families with presumably autosomal dominant or mitochondrial HL, and in four probands (0.7%) in 559 sporadic cases; however, no variants were detected in the other 1,388 probands with autosomal recessive or unknown family history. Among the 30 individuals possessing variants, marked variations were observed in the onset of HL as well as in the presence of progressive HL and tinnitus. Vestibular symptoms, which had been rarely reported, were present in 7 out of 30 (23%) of the affected individuals. The most prevalent audiometric configuration was low-frequency type; however, some individuals had high-frequency HL. Haplotype analysis in three mutations (p.A716T, p.K836T, and p.E864K) suggested that the mutations occurred at these mutation hot spots. The present study provided new insights into the audiovestibular phenotypes in patients with WFS1 mutations.

Conclusion: Audiological parameters alone do not determine the choice to use hearing aids (HA). Subjective hearing-related QoL is a major factor that determines whether or not an older person will continue to wear HA. Objective: This study aimed to identify which audiological parameters and quality-of-life (QoL) measures determine whether or not older persons will continue wearing HA. Methods: Charts of 157 patients aged ⩾65 years who attended the HA service unit at the Otolaryngology Department were retrospectively reviewed. After HA fitting and a trial, the patients were divided into groups, depending upon whether or not they wanted to continue wearing the HA (users, 58.2%; non-users, 41.8%) and then audiological parameters were compared between them. At least 4 months after the HA fitting, the self-reported QoL questionnaire, Hearing Handicap Inventory for the Elderly (HHIE), was mailed to all 157 patients and HHIE scores were compared between HA users and non-users. Result: Speech discrimination score and dynamic range did not significantly differ between HA users and non-users. A difference in the average hearing threshold was marginally significant. The response rate to the HHIE was 65.2%. Total HHIE and emotional scores were higher (more impaired) among HA users than non-users. [ABSTRACT FROM AUTHOR]

OBJECTIVE:Decreasing language delay in hearing-impaired children is a key issue in the maintenance of their quality of life. Language training has been presented mainly by experience-based training; effective intervention programs are crucially important for their future. The aim of this study was to confirm the efficacy of 6-month domain-based language training of school-age, severe-to-profound hearing-impaired children. METHODS: We conducted a controlled before-after study involving 728 severe-to-profound prelingual hearing-impaired children, including an intervention group (n = 60), control group (n = 30), and baseline study group (n = 638). Language scores of the participants and questionnaires to the caregivers/therapists were compared before and after the intervention. Average monthly increase in each language score of the control group and baseline study group were compared with those of the intervention group. RESULTS:Language scores and the results of the questionnaire of the intervention group showed a significant improvement (P < .05). The average monthly language growth of the intervention group was twice that of the control group and 3 to 4 times that of the baseline study group (P < .05). The effect size was largest in communication (1.914), followed by syntax (0.931). CONCLUSION:Domain-based language training improved the language development and daily communication of hearing-impaired children without any adverse effects. [ABSTRACT FROM AUTHOR]

Objectives: This study examined syntactic development of auditory comprehension of sentences in Japanese-speaking school-age children with and without hearing impairment. Methods: In total, 592 preschool and school-age children (421 normal-hearing and 171 hearing-impaired) were included in this cross-sectional observation study conducted using the Syntactic Processing Test for Aphasia for Japanese language users. Linear regression analysis was used to determine the estimated age at which each syntactic structure was acquired. Results: Acquisition of syntactic structures was observed in hearing-impaired and normal-hearing children. Basic word order sentences of agent-object-verb and the goal benefactive construction were acquired at preschool age (earlier group), whereas reverse word order sentences of object-agent-verb, source benefactive construction, passive voice, and relative clauses were acquired at school age (later group). The results showed that many hearing-impaired children may not acquire Japanese grammatical structures until the age of 12 years. Conclusions: Adequate screening for language development for school-age hearing-impaired children is required for an effective intervention. [ABSTRACT FROM AUTHOR]

Objectives: Language development is a key issue in hearing-impaired children. However, interpersonal differences complicate our understanding of the situation. The bimodal or trimodal distribution of language scores in our other reports in this publication imply the presence of fundamental differences among these groups. The characteristic aspects of each group were profiled according to language data. Methods: We divided 268 children with prelingual severe to profound hearing impairment into 3 groups according to their trimodal distribution observed on histogram-based analysis of their responses to the Test of Question-Answer Interaction Development. Test results in several language domains, including productive and comprehensive vocabulary, productive and comprehensive syntax, and academic achievement, were profiled and compared among these 3 groups. Results: Significant differences were observed in the results of the Word Fluency Test, the Picture Vocabulary Test–Revised, and the Syntax Test of Aphasia among the 3 groups. No significant difference was observed between groups who were lower-scoring and intermediate-scoring on the academic achievement tests referred to as Criterion Referenced Test– II and the Standardized Comprehension Test for Abstract Words. Only the higher-scoring group showed excellent results. The demographic factors were not significantly different among the 3 groups. Conclusions: Relatively poor academic achievement despite fair language production was the dominant feature of the intermediate-scoring group. This profile might correlate with academic failure in school. [ABSTRACT FROM AUTHOR]

Objectives: Early identification and intervention for prelingual bilateral severe to profound hearing loss is supposed to reduce the delay in language development. Many countries have implemented early detection and hearing intervention and conducted regional universal newborn hearing screening (UNHS). However, the benefits of UNHS in later childhood have not yet been confirmed, although language development at school age has a lifelong impact on children’s future. Our Research on Sensory and Communicative Disorders project attempted to reveal the effects of UNHS and those of early intervention on the development of verbal communication in Japanese children. Methods: In this study, 319 children with prelingual bilateral severe to profound hearing loss, 4 to 10 years of age, were evaluated with the Test of Question-Answer Interaction Development used as an objective variable. Participation in UNHS and early intervention were used as explanatory variables. The adjusted odds ratio (AOR) was calculated after adjusting several confounding factors with use of logistic regression analysis. In addition, caregivers’ answers were obtained by a questionnaire, and the process of diagnosis with and without UNHS was analyzed retrospectively. Results: Early intervention was significantly associated with better language development (AOR, 3.23; p < 0.01). Participation in UNHS may contribute to better language development to some extent (AOR, 1.32), but not one that was statistically significant (p = 0.37). However, UNHS was significantly associated with early intervention (AOR, 20.21; p < 0.001). The questionnaire results indicated a lag in treatment after UNHS in more than 40% of screened cases. Conclusions: Early intervention strongly influenced language development. It is necessary to ensure that early identification leads directly to early intervention. [ABSTRACT FROM AUTHOR]

Objectives: The measurement of language development in hearing-impaired children is an important step in assessing the appropriateness of an intervention. We proposed a set of language tests (the Assessment Package for Language Development in Japanese Hearing-Impaired Children [ALADJIN]) to evaluate the development of practical communication skills. This package consisted of communication skills (TQAID), comprehensive (PVT-R and SCTAW) and productive vocabulary (WFT), comprehensive and productive syntax (STA), and the STRAW. Methods: A total of 638 children with greater than 70-dB hearing impairment were subjected to this set of language tests. Additional tests, including the PARS, the RCPM, and parental questionnaires, were administered to assess the backgrounds of the children. Results: A trimodal distribution was observed among hearing-impaired children by the histogram-based analysis of each test. Conclusions: The ALADJIN is a useful Japanese-language evaluation kit for hearing-impaired children. [ABSTRACT FROM AUTHOR]