scholarly journals Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 566
Author(s):  
Regie Lyn P. Santos-Cortez ◽  
Talitha Karisse L. Yarza ◽  
Tori C. Bootpetch ◽  
Ma. Leah C. Tantoco ◽  
Karen L. Mohlke ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Candidate Genes ◽  
Cochlear Implantation ◽  
Long Term Effects ◽  
Clinical Genetic ◽  
Exome Data ◽  
Novel Variants ◽  
Children With Hearing Loss ◽  
Bone Anomalies

Background: Hearing loss remains an important global health problem that is potentially addressed through early identification of a genetic etiology, which helps to predict outcomes of hearing rehabilitation such as cochlear implantation and also to mitigate the long-term effects of comorbidities. The identification of variants for hearing loss and detailed descriptions of clinical phenotypes in patients from various populations are needed to improve the utility of clinical genetic screening for hearing loss. Methods: Clinical and exome data from 15 children with hearing loss were reviewed. Standard tools for annotating variants were used and rare, putatively deleterious variants were selected from the exome data. Results: In 15 children, 21 rare damaging variants in 17 genes were identified, including: 14 known hearing loss or neurodevelopmental genes, 11 of which had novel variants; and three candidate genes IST1, CBLN3 and GDPD5, two of which were identified in children with both hearing loss and enlarged vestibular aqueducts. Patients with variants within IST1 and MYO18B had poorer outcomes after cochlear implantation. Conclusion: Our findings highlight the importance of identifying novel variants and genes in ethnic groups that are understudied for hearing loss.

scholarly journals Remote Microphone System Use in the Homes of Children With Hearing Loss: Impact on Caregiver Communication and Child Vocalizations

2020 ◽  
Vol 63 (2) ◽  
pp. 633-642
Author(s):  
Emily C. Thompson ◽  
Carlos R. Benítez-Barrera ◽  
Gina P. Angley ◽  
Tiffany Woynaroski ◽  
Anne Marie Tharpe
Keyword(s):  
Hearing Loss ◽  
Environmental Analysis ◽  
Empirical Support ◽  
Long Term Effects ◽  
Home Setting ◽  
System Use ◽  
Parental Reports ◽  
Children With Hearing Loss ◽  
The Impact

Purpose This study examined the impact of home use of remote microphone systems (RMSs) on caregiver communication and child vocalizations in families of children with hearing loss. Method We drew on data from a prior study in which Language ENvironmental Analysis recorders were used with 9 families during 2 consecutive weekends—1 that involved using an RMS and 1 that did not. Audio samples from Language ENvironmental Analysis recorders were (a) manually coded to quantify the frequency of verbal repetitions and alert phrases caregivers utilized in communicating to children with hearing loss and (b) automatically analyzed to quantify children's vocalization rate, duration, complexity, and reciprocity when using and not using an RMS. Results When using an RMS at home, caregivers did not repeat or clarify their statements as often as when not using an RMS while communicating with their children with hearing loss. However, no between-condition differences were observed in children's vocal characteristics. Conclusions Results provide further support for home RMS use for children with hearing loss. Specifically, findings lend empirical support to prior parental reports suggesting that RMS use eases caregiver communication in the home setting. Studies exploring RMS use over a longer duration of time might provide further insight into potential long-term effects on children's vocal production.

scholarly journals Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Somayeh Khatami ◽  
Masomeh Askari ◽  
Fatemeh Bahreini ◽  
Morteza Hashemzadeh-Chaleshtori ◽  
Saeed Hematian ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Diagnosis ◽  
Clinical Genetic ◽  
Large Size ◽  
Whole Exome ◽  
Novel Variants ◽  
Syndromic Hearing Loss ◽  
Traditional Approaches

Abstract Background Clinical genetic diagnosis of non-syndromic hearing loss (NSHL) is quite challenging. With regard to its high heterogeneity as well as large size of some genes, it is also really difficult to detect causative mutations using traditional approaches. One of the recent technologies called whole-exome sequencing (WES) has been thus developed in this domain to remove the limitations of conventional methods. Methods This study was a report on a research study of two unrelated pedigrees with multiple affected cases of hearing loss (HL). Accordingly, clinical evaluations and genetic analysis were performed in both families. Results The results of WES data analysis to uncover autosomal recessive non-syndromic hearing loss (ARNSHL) disease-causing variants was reported in the present study. Initial analysis identified two novel variants of MYO15A i.e. c.T6442A:p.W2148R and c.10504dupT:p.C3502Lfs*15 correspondingly which were later confirmed by Sanger validations and segregation analyses. According to online prediction tools, both identified variants seemed to have damaging effects. Conclusion In this study, whole exome sequencing were used as a first approach strategy to identify the two novel variants in MYO15A in two Iranian families with ARNSHL.

LONG-TERM EFFECTS OF OTITIS MEDIA A TEN-YEAR COHORT STUDY OF ALASKAN ESKIMO CHILDREN

PEDIATRICS ◽  
1973 ◽  
Vol 52 (4) ◽  
pp. 577-585 ◽  
Author(s):  
Gary J. Kaplan ◽  
J. Kenneth Fleshman ◽  
Thomas R. Bender ◽  
Carol Baum ◽  
Paul S. Clark
Keyword(s):  
Hearing Loss ◽  
Otitis Media ◽  
Verbal Ability ◽  
Significant Loss ◽  
Long Term Effects ◽  
Normal Range ◽  
History Of ◽  
Conductive Component ◽  
Verbal Development

Histories of ear disease, otoscopic examinations, and audiologic, intelligence, and achievement tests were obtained from a cohort of 489 Alaskan Eskimo children who have been followed through the first ten years of life. Seventy-six per cent had experienced one or more episodes of otitis media since birth. Of these, 78% had their first attack during their first two years of life. Perforations and scars were present in 41%. A hearing loss of 26 decibels or greater was present in 16%, and an additional 25% were in the normal range but had a measurable air-bone gap. Children with a history of otitis media prior to 2 years of age and a hearing loss of 26 decibels or greater had a statistically significant loss of verbal ability and were behind in total reading, total math, and language. In addition, children who had an early onset of otitis media but now had normal hearing with a conductive component were also adversely affected in verbal areas. The number of otitis media episodes was related to tympanic membrane abnormalities, hearing loss, and low verbal and achievement scores. These findings indicate that otitis media has been a significant cause of morbidity in Alaskan Eskimo children, and its onset during the critical years of language development as well as the number of episodes play an important role in impairing verbal development.

The Effects of Parent Training on Vocabulary Scores of Young Children With Hearing Loss

2018 ◽  
Vol 27 (2) ◽  
pp. 765-777 ◽  
Author(s):  
Emily Lund
Keyword(s):  
Hearing Loss ◽  
Parent Training ◽  
Child Outcomes ◽  
Parent Report ◽  
Short Term ◽  
Usual Model ◽  
Vocabulary Growth ◽  
Children With Hearing Loss ◽  
Business As Usual

Purpose The purpose of this study is to evaluate the effects of short-term parent training on maternal use of language stimulation strategies and vocabulary scores in children with hearing loss. Method Six mother–child dyads participated in the multiple-baseline study. During baseline and maintenance, children engaged in a business-as-usual model of clinician-only therapy. During intervention, mothers and children participated in parent training focused on transparent labeling and linguistic mapping strategies. Parent strategy use was measured via weekly play-based probe assessments. Child vocabulary growth was measured via parent report. Results A relation between parent training and use of transparent labeling was established for all mothers, and a relation between parent training and use of linguistic mapping was established for 3 of 6 mothers. Child vocabulary growth rate increased from baseline to intervention in 4 of 6 children. Conclusions Short-term parent training can change parent behavior. However, parents may not maintain these skills without support. Further research is needed to characterize the extent to which short-term training can make long-term changes in parent and child outcomes.

scholarly journals Cochlear Implants as a Treatment Option for Unilateral Hearing Loss, Severe Tinnitus and Hyperacusis

2015 ◽  
Vol 20 (Suppl. 1) ◽  
pp. 60-66 ◽  
Author(s):  
Angel Ramos Macías ◽  
Juan Carlos Falcón González ◽  
Manuel Manrique ◽  
Constantino Morera ◽  
Luis García-Ibáñez ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Cochlear Implants ◽  
Sudden Hearing Loss ◽  
Unilateral Hearing Loss ◽  
Long Term Effects ◽  
Activation Data ◽  
Fitting In ◽  
Severe Tinnitus

Tinnitus is an incapacitating condition commonly affecting cochlear implant (CI) candidates. The aim of this clinical study is to assess the long-term effects of CI treatment in patients with severe-to-profound, sensorineural, unilateral hearing loss (UHL) and incapacitating tinnitus. We performed a prospective Cochlear™ company-sponsored multicentre study in five Spanish centres. Sixteen patients with UHL and incapacitating tinnitus, which was indicated by a Tinnitus Handicap Inventory (THI) score >58%, received a Nucleus® CI in their deaf ear. The study design includes repeated within-subject measures on hearing, tinnitus, hyperacusis and quality of life up to 12 months after initial CI fitting. In addition to hearing loss and tinnitus, all patients suffered from hyperacusis. Most patients had a sudden hearing loss and received a CI within 2 years after their hearing loss. Preliminary 6-month, post-CI activation data of 13 subjects showed that the majority of patients perceived a subjective benefit from CI treatment, which was assessed using the THI, a Visual Analogue Scale of tinnitus loudness/annoyance and the Speech, Spatial and Qualities of Hearing Scale. Preliminary 12-month data of 7 subjects showed that most patients also perceived a degree of relief from their hyperacusis. One patient showed no improvements in any of the applied scales, which could be explained by partial insertion of the electrode due to obstruction of the cochlea by otosclerosis. In conclusion, CI can successfully be used in the treatment of UHL patients with accompanying severe tinnitus and hyperacusis. Implantation resulted in hearing benefits and a durable relief from tinnitus and hyperacusis in the majority of patients. These findings support the hypothesis that pathophysiological mechanisms after peripheral sensorineural hearing loss are at least partly reversible when hearing is restored with a CI.

scholarly journals Acute and Long-Term Effects of Noise Exposure on the Neuronal Spontaneous Activity in Cochlear Nucleus and Inferior Colliculus Brain Slices

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Moritz Gröschel ◽  
Jana Ryll ◽  
Romy Götze ◽  
Arne Ernst ◽  
Dietmar Basta
Keyword(s):  
Hearing Loss ◽  
Spontaneous Activity ◽  
Inferior Colliculus ◽  
Cochlear Nucleus ◽  
Noise Exposure ◽  
Brain Slices ◽  
Noise Induced Hearing Loss ◽  
Long Term Effects ◽  
Noise Trauma

Noise exposure leads to an immediate hearing loss and is followed by a long-lasting permanent threshold shift, accompanied by changes of cellular properties within the central auditory pathway. Electrophysiological recordings have demonstrated an upregulation of spontaneous neuronal activity. It is still discussed if the observed effects are related to changes of peripheral input or evoked within the central auditory system. The present study should describe the intrinsic temporal patterns of single-unit activity upon noise-induced hearing loss of the dorsal and ventral cochlear nucleus (DCN and VCN) and the inferior colliculus (IC) in adult mouse brain slices. Recordings showed a slight, but significant, elevation in spontaneous firing rates in DCN and VCN immediately after noise trauma, whereas no differences were found in IC. One week postexposure, neuronal responses remained unchanged compared to controls. At 14 days after noise trauma, intrinsic long-term hyperactivity in brain slices of the DCN and the IC was detected for the first time. Therefore, increase in spontaneous activity seems to develop within the period of two weeks, but not before day 7. The results give insight into the complex temporal neurophysiological alterations after noise trauma, leading to a better understanding of central mechanisms in noise-induced hearing loss.

scholarly journals Effects of Including Information about Hidden Hearing Loss in an Adopt-A-Band Program on College Band Members' Attitudes toward Healthy Hearing Behaviors

2018 ◽  
Vol 39 (02) ◽  
pp. 210-220 ◽  
Author(s):  
Carole Johnson ◽  
Jonathan Baldwin ◽  
Jeffrey Danhauer ◽  
Brian Wolfe ◽  
Stevana Jeannont ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Hearing Loss ◽  
Confidence Interval ◽  
Self Efficacy ◽  
Future Research ◽  
Long Term Effects ◽  
Marching Bands ◽  
Hidden Hearing Loss ◽  
College Band

AbstractYoung musicians may be at risk for developing cochlear synaptopathy (CS), or hidden hearing loss (HHL), that could lead to permanent music-induced hearing loss (MIHL). Patients with CS often complain of tinnitus and/or difficulty understanding speech in noisy situations, even though traditional audiometric testing indicates normal hearing. The aim of this article was to determine the effects of including information about HHL on an Adopt-A-Band program involving college band members' concern about and self-efficacy toward the prevention of MIHL. We conducted a single-blinded, randomized clinical trial. Forty-eight band members participated in this study. Band members were randomly assigned to two Adopt-A-Band presentations, one with and one without information on HHL. Including information about HHL had no effect on these band members' concerns about and self-efficacy toward the prevention of MIHL. However, the Adopt-A-Band program resulted in significantly increased concern for MIHL by 39.5% (p < 0.0001, 95% confidence interval [CI]: 25–54.2), self-efficacy in its prevention by 79.1% (p < 0.0001, 95% CI: 66.9–91.2), and plans to use musicians' earplugs while playing by 67.4% (p < 0.0001, 95% CI: 53.4–81.45). Although inclusion of information about HHL did not have a significant effect, the Adopt-A-Band program, in general, significantly increased the immediate intent of these students to practice healthy hearing behaviors. Future research is needed to determine the long-term effects of using the Adopt-A-Band program with university marching bands' use of healthy hearing behaviors.

scholarly journals The Long-Term Efficacy of Cochlear Implantation for Hearing Loss in Muckel-Wells Syndrome

2019 ◽  
Vol 15 (3) ◽  
pp. 454-458
Author(s):  
Bakushi Ogawa ◽  
◽  
Mitsuhiro Aoki ◽  
Hidenori Ohnishi ◽  
Toshimitsu Ohashi ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Cochlear Implantation ◽  
Term Efficacy ◽  
Wells Syndrome

scholarly journals Recessive LOXHD1 Variants Cause a Milder Prelingual Hearing Loss: Genotype-Phenotype Correlation and Three Additional Patients With Novel Variants

2020 ◽  
Author(s):  
Sha Yu ◽  
Wen-xia Chen ◽  
Yun-Fei Zhang ◽  
Chao Chen ◽  
Yihua Ni ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Late Onset ◽  
Protein Domain ◽  
Low Frequencies ◽  
Genotype Combination ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Splicing Variants ◽  
Novel Variants ◽  
Children With Hearing Loss

Abstract BackgroundBiallelic mutations in LOXHD1 have been identified as the cause of DFNB77 (deafness, autosomal recessive 77). It is a novel, progressive, severe-profound, and late-onset non-syndromic hearing loss, and is genetically and phenotypically highly heterogeneous. This study aimed to provide an additional three cases of DFNB77 to analyze this complex disease.MethodsWe presented three cases of pediatric patients with prelingual milder form of the DFNB77 with residual hearing at low frequencies. Trio whole-exome sequencing (WES) was conducted to identify the pathogenic variants. Additionally, we reviewed the literature to further analyze the relationships between the genotype and audiology phenotype of LOXHD1 worldwide.ResultsSix novel possible pathogenic LOXHD1 variants in three patients were identified by WES, including three missense, one nonsense, and two splicing variants. The literature review showed that 68.5% of DFNB77 patient onset before five years old; Most variants (60%) were associated with a milder phenotype, particularly variants in the protein domain of PLAT 7 and PLAT 9. We found that compared with homozygous LOXHD1 variants, individuals with heterozygous compound variants had a significantly milder phenotype, especially individuals carrying one missense and one splicing or bi-allelic missense variants (P <0.05). Audiometric analysis at different ages showed that the hearing loss degree was aggravated at all frequencies in adulthood and more severe in elderhood.ConclusionsWe report three children with hearing loss carrying six novel LOXHD1 variants identified by WES. Furthermore, our work indicates that DFNB77 may be milder than previously reported, and recommends considering the genotype combination and mutation location of LOXHD1 and race-specificity in DFNB77 molecular diagnoses and management.

scholarly journals Novel MYO15A Variants are Associated with Hearing Loss in the Two Iranian Pedigrees

2020 ◽  
Author(s):  
somayeh khatami ◽  
Masomeh Askari ◽  
Fatemeh Bahreini ◽  
Morteza Hashemzadeh Chaleshtori ◽  
Saeed Hematian ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Genetic Diagnosis ◽  
Clinical Genetic ◽  
Clinical Evaluations ◽  
Large Size ◽  
Whole Exome ◽  
Novel Variants ◽  
Syndromic Hearing Loss ◽  
Traditional Approaches

Abstract Background: Clinical genetic diagnosis of non-syndromic hearing loss (NSHL) is quite challenging. With regard to its high heterogeneity as well as large size of some genes, it is also really difficult to detect causative mutations using traditional approaches. One of the recent technologies called whole-exome sequencing (WES) has been thus developed in this domain to remove the limitations of conventional methods.Methods: This study was a report on two unrelated pedigrees with multiple affected cases of hearing loss (HL). Accordingly, clinical evaluations and genetic analysis were performed in both families. Results: The implementation of WES to uncover autosomal recessive non-syndromic hearing loss (ARNSHL) and its related variants was reported in the present study. Two novel variants of MYO15A i.e. c.T6442A:p.W2148R and c.10504dupT:p.C3502Lfs*15 were correspondingly identified and then segregations were confirmed using Sanger sequencing. According to online prediction tools, both identified variants seemed to have damaging effects.Conclusion: This study further supported the effectiveness of WES for genetic diagnosis of ARNSHL as a first approach.

Sign in / Sign up

Export Citation Format

Share Document