Phenotypic Heterogeneity of Post-lingual and/or Milder Hearing Loss for the Patients With the GJB2 c.235delC Homozygous Mutation

ObjectiveTo report the phenotypic heterogeneity of GJB2 c.235delC homozygotes associated with post-lingual and/or milder hearing loss, and explore the possible mechanism of these unconditional phenotypes.MethodsMutation screening of GJB2 was performed on all ascertained members from Family 1006983 and three sporadic patients by polymerase chain reaction (PCR) amplification and Sanger sequencing. Next generation sequencing (NGS) was successively performed on some of the affected members and normal controls from Family 1006983 to explore additional possible genetic codes. Reverse transcriptase–quantitative PCR was conducted to test the expression of Connexin30.ResultsWe identified a Chinese autosomal recessive hearing loss family with the GJB2 c.235delC homozygous mutation, affected members from which had post-lingual moderate to profound hearing impairment, and three sporadic patients with post-lingual moderate hearing impairment, instead of congenital profound hearing loss. NGS showed no other particular variants. Overexpression of Connexin30 in some of these cases was verified.ConclusionPost-lingual and/or moderate hearing impairment phenotypes of GJB2 c.235delC homozygotes are not the most common phenotype, revealing the heterogeneity of GJB2 pathogenic mutations. To determine the possible mechanism that rescues part of the hearing or postpones onset age of these cases, more cases are required to confirm both Connexin30 overexpression and the existence of modifier genes.

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The Effect of Conventional and Transparent Surgical Masks on Speech Understanding in Individuals with and without Hearing Loss

Journal of the American Academy of Audiology ◽

10.3766/jaaa.15151 ◽

2017 ◽

Vol 28 (01) ◽

pp. 058-067 ◽

Cited By ~ 16

Author(s):

Samuel R. Atcherson ◽

Lisa Lucks Mendel ◽

Wesley J. Baltimore ◽

Chhayakanta Patro ◽

Sungmin Lee ◽

...

Keyword(s):

Hearing Loss ◽

Speech Perception ◽

Hearing Impairment ◽

Visual Input ◽

Acoustic Properties ◽

Speech Understanding ◽

Profound Hearing Loss ◽

Cross Sectional ◽

Surgical Masks ◽

Significant Difference

AbstractIt is generally well known that speech perception is often improved with integrated audiovisual input whether in quiet or in noise. In many health-care environments, however, conventional surgical masks block visual access to the mouth and obscure other potential facial cues. In addition, these environments can be noisy. Although these masks may not alter the acoustic properties, the presence of noise in addition to the lack of visual input can have a deleterious effect on speech understanding. A transparent (“see-through”) surgical mask may help to overcome this issue.To compare the effect of noise and various visual input conditions on speech understanding for listeners with normal hearing (NH) and hearing impairment using different surgical masks.Participants were assigned to one of three groups based on hearing sensitivity in this quasi-experimental, cross-sectional study.A total of 31 adults participated in this study: one talker, ten listeners with NH, ten listeners with moderate sensorineural hearing loss, and ten listeners with severe-to-profound hearing loss.Selected lists from the Connected Speech Test were digitally recorded with and without surgical masks and then presented to the listeners at 65 dB HL in five conditions against a background of four-talker babble (+10 dB SNR): without a mask (auditory only), without a mask (auditory and visual), with a transparent mask (auditory only), with a transparent mask (auditory and visual), and with a paper mask (auditory only).A significant difference was found in the spectral analyses of the speech stimuli with and without the masks; however, no more than ∼2 dB root mean square. Listeners with NH performed consistently well across all conditions. Both groups of listeners with hearing impairment benefitted from visual input from the transparent mask. The magnitude of improvement in speech perception in noise was greatest for the severe-to-profound group.Findings confirm improved speech perception performance in noise for listeners with hearing impairment when visual input is provided using a transparent surgical mask. Most importantly, the use of the transparent mask did not negatively affect speech perception performance in noise.

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The Use of Frequency Lowering Technology in the Treatment of Severe-to-Profound Hearing Loss: A Review of the Literature and Candidacy Considerations for Clinical Application

Seminars in Hearing ◽

10.1055/s-0038-1670700 ◽

2018 ◽

Vol 39 (04) ◽

pp. 377-389 ◽

Cited By ~ 3

Author(s):

Susan Scollie ◽

Danielle Glista

Keyword(s):

Hearing Loss ◽

Hearing Impairment ◽

Clinical Application ◽

Current Literature ◽

High Frequency ◽

Hearing Aid ◽

Verification And Validation ◽

Review Of The Literature ◽

Profound Hearing Loss

AbstractThis article provides a review of the current literature on the topic of frequency lowering hearing aid technology specific to the treatment of severe and profound levels of hearing impairment in child and adult listeners. Factors to consider when assessing listener candidacy for frequency lowering technology are discussed. These include factors related to audiometric assessment, the listener, the type of hearing aid technology, and the verification and validation procedures that can assist in determining candidacy for frequency lowering technology. An individualized candidacy assessment including the use of real-ear verification measures and carefully chosen validation tools are recommended for listeners requiring greater audibility of high-frequency sounds, when compared with amplification via conventional hearing aid technology.

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EFFECTIVENESS OFSCREENING TOOLS EMPLOYED FOR IDENTIFYING HEARING LOSSIN OLDER ADUL

Archiv Euromedica ◽

10.35630/2199-885x/2021/11/1.21 ◽

2021 ◽

Vol 11 (1) ◽

pp. 90-95

Author(s):

Tatjana Vladimirova ◽

Mikhail Postnikov ◽

Alexandr Kurenkov ◽

Anastasia Martynova

Keyword(s):

Hearing Loss ◽

Hearing Impairment ◽

Predictive Value ◽

Primary Care Physicians ◽

Ease Of Use ◽

Older Age ◽

High Rate ◽

Screening Tests ◽

Age Group ◽

Profound Hearing Loss

The study evaluated the effectiveness of screening tests by identifying hearing loss in 127 adults of the older age groups (aged 60–87). We performed a quantitative assessment of the HHIE-S questionnaire (accuracy, sensitivity, specificity) comparing to the puretone threshold audiometry (the gold standard for detecting hearing loss). The analysis of hearing impairment prevalence in the target population relied on both methods. We have observed a high rate of hearing loss — 81% in the patients of the older age group, of which 30% had mild hearing loss, 38% — moderate hearing loss, 9% — severe hearing loss, the remaining 4% with profound hearing loss. We have evaluated the average accuracy (62.2%), sensitivity (64.0%), specificity (54.0%) as well as the positive predictive value (85.7%) of the HHIE-S questionnaire, whereas it was the negative predictive value only that revealed a low rate (26%). The study outcomes confirm the possibility of using HHIE-S questionnaire as a screening tool for hearing loss in the older age group. HHIE-S can prove particularly useful for primary care physicians as well as for physical examination due to its reliable accuracy and ease of use. The probability of a false positive outcome and an overestimated hearing impairment in the older age group is relatively low. However, pure-tone threshold audiometry is required in patients with detected hearing loss.

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A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families

Neural Plasticity ◽

10.1155/2018/7272308 ◽

2018 ◽

Vol 2018 ◽

pp. 1-6 ◽

Cited By ~ 3

Author(s):

Xueling Wang ◽

Longhao Wang ◽

Hu Peng ◽

Tao Yang ◽

Hao Wu

Keyword(s):

Sanger Sequencing ◽

Pcr Amplification ◽

Homozygous Mutation ◽

Frequent Mutation ◽

Nonsyndromic Deafness ◽

Chinese Han ◽

Targeted Next Generation Sequencing ◽

Targeted Ngs ◽

Next Generation Sequencing Ngs ◽

Generation Sequencing

Genetic hearing impairment is highly heterogeneous. In this study, targeted next-generation sequencing (NGS) in two Chinese Han families identified a novel p.G141R homozygous mutation in ILDR1 as the genetic cause of the deafness. Consistent with the recessive inheritance, cosegregation of the p.G141R variant with the hearing loss was confirmed in members of both families by PCR amplification and Sanger sequencing. SNP genotyping analysis suggested that those two families were not closely related. Our study showed that targeted NGS is an effective tool for diagnosis of genetic deafness and that p.G141R in ILDR1 may be a relatively frequent mutation for DFNB42 in Chinese Hans.

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Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation

Neural Plasticity ◽

10.1155/2020/8841522 ◽

2020 ◽

Vol 2020 ◽

pp. 1-11

Author(s):

Chang Guo ◽

Sha-Sha Huang ◽

Yong-Yi Yuan ◽

Ying Zhou ◽

Ning Wang ◽

...

Keyword(s):

Hearing Loss ◽

Type A ◽

Pathogenic Mutation ◽

Considerable Proportion ◽

Homozygous Mutation ◽

Type B ◽

Profound Hearing Loss ◽

Severe Hearing Loss ◽

Type C ◽

Loss Severity

Hereditary hearing loss is characterized by remarkable phenotypic heterogeneity. Patients with the same pathogenic mutations may exhibit various hearing loss phenotypes. In the Chinese population, the c.235delC mutation is the most common pathogenic mutation of GJB2 and is closely related to hereditary recessive hearing loss. Here, we investigated the hearing phenotypes of patients with hearing loss associated with the homozygous c.235delC mutation, paying special attention to asymmetric interaural hearing loss. A total of 244 patients with the GJB2 c.235delC homozygous mutation encountered from 2007 to 2015 were enrolled. The severity of hearing loss was scaled with the American Speech-Language-Hearing Association (ASHA). Auditory phenotypes were analyzed, and three types of interaural asymmetry were defined based on audiograms: Type A (asymmetry of hearing loss severity), Type B (asymmetry of audiogram shape), and Type C (Type A plus Type B). Of the 488 ears (244 cases) examined, 71.93% (351) presented with profound hearing loss, 14.34% (70) with severe hearing loss, and 9.43% (46) with moderate to severe hearing loss. The most common audiogram shapes were descending (31.15%) and flat (24.18%). A total of 156 (63.93%) of the 244 patients exhibited asymmetric interaural hearing loss in terms of severity and/or audiogram shape. Type A was evident in 14 of these cases, Type B in 106, and Type C in 36. In addition, 211 of 312 ears (67.63%) in the interaural hearing asymmetry group showed profound hearing loss, and 59 (18.91%) exhibited severe hearing loss, with the most common audiogram shapes being flat (27.88%) and descending (22.12%). By contrast, in the interaural hearing symmetry group, profound hearing loss was observed in 140 ears (79.55%), and the most common audiograms were descending (46.59%) and residual (21.59%). Hearing loss associated with the GJB2 c.235delC homozygous mutation shows diverse phenotypes, and a considerable proportion of patients show bilateral hearing loss asymmetry.

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Biotinidase deficiency and its impact on the auditory system in Iranian children

Auditory and Vestibular Research ◽

10.18502/avr.v29i1.2365 ◽

2020 ◽

Author(s):

Hossein Talebi ◽

Omid Yaghini ◽

Zahra Habibi

Keyword(s):

Hearing Loss ◽

Hearing Impairment ◽

Demographic Data ◽

Positive Family History ◽

Biotinidase Deficiency ◽

Profound Hearing Loss ◽

Bilateral Absence ◽

Brainstem Response ◽

History Of ◽

Iranian Children

Background and Aim: Biotinidase deficiency (BTD) is a rare autosomal recessive abnormality of biotin metabolism. If left untreated, it may lead to auditory symptoms. In this study, we examined the possible relationship between BTD and hearing impairment among Iranian children. Methods: This descriptive cross-sectional study was performed on 9 children (8 boys, 1 girl) with BTD, who referred to Imam Hossein Hospital in Isfahan City, Iran, in 2018. After collecting their demographic data, including age, gender, weight, height, and history of diseases, we performed routine otolaryngologic and neurologic examination, audiological examinations, including otoscopic, acoustic immittance measurements, and auditory brainstem response (ABR). We recorded cochlear microphonic results in most cases, too. Results: The subjects’ mean ± SD age of BTD diagnosis was 4.33 ± 5.36 months. Of all participants, 11.1% had a positive family history of the disease, and 66.7% of families had the first-degree consanguineous marriage. About 44.5% of participants had a normal hearing; 22.2% had moderate sensorineural hearing loss, and 33.3% showed no response to ABR test. All subjects showed normal acoustic immittance results. However, children with profound hearing loss showed bilateral absence of acoustic reflexes. Conclusion: BTD has a high impact on a child’s hearing system. The high prevalence of hearing loss among BTD patients suggests that parents of BTD children (diagnosed at birth) should pay special attention to auditory screening and follow-up programs, as early diagnosis is important for preventing hearing loss. Also, families with first-degree of consanguineous marriages should consider genetic counseling before having children. Keywords: Biotinidase deficiency; hearing impairment; children

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Speechreading as a communication mediator

CoDAS ◽

10.1590/s2317-17822014000100008 ◽

2014 ◽

Vol 26 (1) ◽

pp. 53-60 ◽

Cited By ~ 6

Author(s):

Letícia Neves de Oliveira ◽

Alexandra Dezani Soares ◽

Brasilia Maria Chiari

Keyword(s):

Hearing Loss ◽

Hearing Impairment ◽

Normal Hearing ◽

Hearing Impaired ◽

Control Group ◽

Study Group ◽

Vocabulary Test ◽

Profound Hearing Loss ◽

Significance Level ◽

Female Speaker

Purposes: To compare the speechreading between individuals with hearing impairment and with normal hearing levels to verify the factors that influence the speechreading among hearing impaired patients. Methods: Forty individuals with severe-to-profound hearing loss aged between 13 and 70 years old (study group) and 21 hearing individuals aged between 17 and 63 years old (control group) were evaluated. As a research instrument, anamnesis was used to characterize the groups; three speechreading instruments, presenting stimuli via a mute video, with a female speaker; and a vocabulary test, to verify their influence on speechreading. A descriptive and analytical statistics (ANOVA test and Pearson's correlation), adopting a significance level of 0.05 (5%). Results: A better performance was observed in the group with hearing impairment in speechreading tests than in the group with hearing individuals. By analyzing the group with hearing loss, there was a mean difference between tests (p<0.001), which also showed correlation between them. Individuals with pre-lingual hearing loss and those who underwent therapy for speechreading had a better performance for most speechreading instruments. The variables gender and schooling showed no influence on speechreading. Conclusion: Individuals with hearing impairment had better performance on speechreading tasks in comparison to people with normal hearing. Furthermore, it was found that the ability to perform speechread might be influenced by the vocabulary, period of installation of the hearing loss, and speechreading therapy.

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Hearing Impairment in Angolan Children with Acute Bacterial Meningitis With and Without Otitis Media and Otorrhea

10.21203/rs.3.rs-511443/v1 ◽

2021 ◽

Author(s):

Laura Lempinen ◽

Anu Laulajainen-Hongisto ◽

Antti A. Aarnisalo ◽

Luis Bernardino ◽

Heikki Peltola ◽

...

Keyword(s):

Hearing Loss ◽

Bacterial Meningitis ◽

Hearing Impairment ◽

Otitis Media ◽

Clinical Course ◽

Acute Bacterial Meningitis ◽

Profound Hearing Loss ◽

Significant Difference ◽

Ear Infections ◽

Hearing Loss In Childhood

Abstract Background: Bacterial meningitis (BM) is a common cause of hearing loss in childhood. Our aim was to investigate bacterial etiology, hearing impairment, and outcome in childhood BM with vs. without otitis media (OM) in the resource-poor settings of Angola. Methods: Hearing was tested through brainstem-evoked response audiometry (ABR) in 391 (76%) of 512 children with confirmed BM. The bacteria identified from the ear discharge were compared to those from CSF and the relevance of findings was examined in terms of hearing among children with or without OM on day 1 and 7 of hospitalization, and at follow-ups of 1, 3 and 6 month(s).Results: No correlation was found in bacteriology between the ear discharge and CSF, and the most common ear pathogens more likely reflected chronic than acute middle ear infections. On day 7 in hospital, hearing impairment (>40 dB) was common, regardless of whether concomitant OM or not (in 27% vs. 30%, respectively), whereas on day 7, profound hearing loss (>80 dB) was diagnosed slightly more in children without OM 16% vs. 10% accordingly. Any hearing deficit on day 7 was associated with a higher risk of complicated or fatal clinical course (OR 2.76, CI95% 1.43-5.29, P = .002).Conclusion: No significant difference prevailed in hearing thresholds between children with or without OM in hospital on day 7 or at later follow-ups. Any hearing impairment on day 7 associated with a higher risk for complicated clinical course or death. Trial registration: ISRCTN62824827. Registered 22 June 2005, http://www.isrctn.com/ ISRCTN62824827.

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Congenital and early-onset bilateral hearing impairment in children: the delay in detection

The Journal of Laryngology & Otology ◽

10.1017/s0022215100139246 ◽

1997 ◽

Vol 111 (11) ◽

pp. 1018-1021 ◽

Cited By ~ 6

Author(s):

Eero Vartiainen ◽

Seppo Karjalainen

Keyword(s):

Risk Factors ◽

Hearing Loss ◽

Hearing Impairment ◽

Early Onset ◽

Otoacoustic Emissions ◽

Hearing Screening ◽

Screening Tests ◽

Profound Hearing Loss ◽

Great Cost ◽

Universal Hearing Screening

AbstractA retrospective review of 168 consecutive children with congenital or early-onset bilateral hearing impairment (>25 dB, 0.5–4 kHz, in the better hearing ear) was conducted. Only 39 per cent of the hearingimpaired children were diagnosed within the first two years of life. The age at diagnosis was related to the severity of hearing loss with profound (>95 dB) hearing losses being detected earlier than the other degrees. However, 37 per cent of children with severe to profound (>70 dB) hearing loss were still not diagnosed until after two years of age. Children with severe to profound hearing loss and with known risk factors were diagnosed earlier than children with the same hearing status but with no known risk factors. It was concluded that the behavioural hearing screening tests used in our well-baby clinics are insufficient and, therefore, more reliable methods, preferably evoked otoacoustic emissions, should be used for universal hearing screening of infants and young children in spite of the great cost.

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The role of current audiological tests in the early diagnosis of hearing impairment in children

Medicinski pregled ◽

10.2298/mpns0706261l ◽

2007 ◽

Vol 60 (5-6) ◽

pp. 261-266 ◽

Cited By ~ 1

Author(s):

Slobodanka Lemajic-Komazec ◽

Zoran Komazec ◽

Ljiljana Vlaski

Keyword(s):

Risk Factors ◽

Hearing Loss ◽

Hearing Impairment ◽

Screening Program ◽

Otoacoustic Emission ◽

Profound Hearing Loss ◽

Group Iii ◽

Group I ◽

Group Ii ◽

Parental Suspicion

Introduction: Permanent hearing impairment is a significant and relatively common condition in newborns, affecting at least 1 child per 1000 live births. The early identification of hearing loss is very important in order to begin early rehabilitation and for optimizing normal development of language. Material and methods: We examined 70 children with parental suspicion of a hearing loss. Brainstem Evoked Response Audiometry was performed and the group was divided into three subgroups. The following parameters were analyzed: the average age of hearing loss-identification, the time of parental first suspicion of a hearing loss, as well as risk factors for hearing impairment. Results and discussion: Of 70 children with parental suspicion of a hearing loss, in 17 cases normal hearing or mild hearing loss (up to 40 dB HL) was found (group I), 16 children were suffering from moderate and severe hearing loss (40 to 90 dB HL) (group II), and 37% of children were suffering from profound hearing loss (greater than 90 dB HL) (group III). Up to the age of 2, the diagnosis was made in 17.64% of children in group I, in 25% in group II, and in 58.8% in group III. The average age of hearing loss identification was 2.83, 3.32, 2.32 years in groups I, II, III, respectively, although parents suspected hearing problems at least one year earlier. Presence of hearing impaired family members as well as of risk factors were not sufficient reasons to get a medical check-up. Conclusion: The use of otoacoustic emission testing in routine clinical practice, as well as education of parents and pediatricians, was followed by earlier detection of hearing loss in regard to our previous study (10 years ago). The mean age of diagnosis in our region is still over 2 years, but establishment of a universal screening program may help reduce the age of hearing loss detection.

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