Science.gov

Sample records for nonsyndromic hearing impairment

  1. Cloning genes for non-syndromal hearing impairment.

    PubMed

    Smith, R J; Van Camp, G

    1999-10-01

    Over 45 genes that cause autosomal non-syndromic hearing impairment (NSHI) have been localized and many more are predicted to exist. To clone these genes, a number of different strategies can be used. This paper focuses on four general approaches: functional cloning, positional cloning, position-dependent candidate gene cloning, and position-independent candidate gene cloning. PMID:10890140

  2. A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2

    SciTech Connect

    Lalwani, A.K.; Brister, J.R.; Fex, J.; Grundfast, K.M.; Pikus, A.T.; Ploplis, B.; San Agustin, T.; Skarka, H.; Wilcox, E.R.

    1994-10-01

    X-linked deafness is a rare cause of hereditary hearing impairment. We have identified a family with X-linked dominant sensorineural hearing impairment, characterized by incomplete penetrance and variable expressivity in carrier females, that is linked to the Xp21.2, which contains the Duchenne muscular dystrophy (DMD) locus. The auditory impairment in affected males was congenital, bilateral, profound, sensorineural, affecting all frequencies, and without evidence of radiographic abnormality of the temporal bone. Adult carrier females manifested bilateral, mild-to-moderate high-frequency sensorineural hearing impairment of delayed onset during adulthood. Eighteen commercially available polymorphic markers from the X chromosome, generating a 10-15-cM map, were initially used for identification of a candidate region. DXS997, located within the DMD gene, generated a two-point LOD score of 2.91 at {theta} = 0, with every carrier mother heterozygous at this locus. Recombination events at DXS992 (located within the DMD locus, 3{prime} to exon 50 of the dystrophin gene) and at DXS1068 (5{prime} to the brain promoter of the dystrophin gene) were observed. No recombination events were noted with the following markers within the DMD locus: 5{prime}DYS II, intron 44, DXS997, and intron 50. There was no clinical evidence of Duchenne or Becker muscular dystrophy in any family member. It is likely that this family represents a new locus on the X chromosome, which when mutated results in nonsyndromic sensorineural hearing loss and is distinct from the heterogeneous group of X-linked hearing losses that have been previously described. 57 refs., 6 figs., 1 tab.

  3. Genetic counseling for patients with nonsyndromic hearing impairment directed by gene analysis

    PubMed Central

    MA, DINGYUAN; ZHANG, JINGJING; LUO, CHUNYU; LIN, YING; JI, XIUQING; HU, PING; XU, ZHENGFENG

    2016-01-01

    The aim of the present study was to investigate the genetic etiology of patients with nonsyndromic hearing impairment through gene analysis, and provide accurate genetic counseling and prenatal diagnosis for deaf patients and families with deaf children. Previous molecular etiological studies have demonstrated that the most common molecular changes in Chinese patients with nonsyndromic hearing loss (NSHL) involved gap junction protein β 2, solute carrier family 26, member 4 (SLC26A4), and mitochondrial DNA 12S rRNA. A total of 117 unrelated NSHL patients were included. Mutation screening was performed by Sanger sequencing in GJB2, 12S rRNA, and the hot-spot regions of SLC26A4. In addition, patients with a single mutation of SLC26A4 in the hot-spot regions underwent complete exon sequencing to identify a mutation in the other allele. A total of 36 of the 117 deaf patients were confirmed to have two pathogenic mutations, which included 4 deaf couples, husband or wife in 11 deaf couples and 17 deaf individuals. In addition, prenatal diagnoses was performed in 7 pregnant women at 18–21 weeks gestation who had previously given birth to a deaf child, and the results showed that two fetal genotypes were the same as the proband's genotypes, four fetuses carried one pathogenic gene from their parents, and one fetus was identified to have no mutations. Taken together, the genetic testing of deaf patients can provide reasonable guidance to deaf patients and families with deaf children. PMID:26783197

  4. Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.

    PubMed

    Lebeko, K; Sloan-Heggen, C M; Noubiap, J J N; Dandara, C; Kolbe, D L; Ephraim, S S; Booth, K T; Azaiez, H; Santos-Cortez, R L P; Leal, S M; Smith, R J H; Wonkam, A

    2016-09-01

    In sub-Saharan Africa GJB2-related nonsyndromic hearing impairment (NSHI) is rare. Ten Cameroonian families was studied using a platform (OtoSCOPE®) with 116 genes. In seven of 10 families (70%), 12 pathogenic variants were identified in six genes. Five of the 12 (41.6%) variants are novel. These results confirm the efficiency of comprehensive genetic testing in defining the causes of NSHI in sub-Saharan Africa. PMID:27246798

  5. Genetic Epidemiology of Mitochondrial Pathogenic Variants Causing Nonsyndromic Hearing Loss in a Large Cohort of South Indian Hearing Impaired Individuals.

    PubMed

    Subathra, Mahalingam; Ramesh, Arabandi; Selvakumari, Mathiyalagan; Karthikeyen, N P; Srisailapathy, C R Srikumari

    2016-09-01

    Mitochondria play a critical role in the generation of metabolic energy in the form of ATP. Tissues and organs that are highly dependent on aerobic metabolism are involved in mitochondrial disorders including nonsyndromic hearing loss (NSHL). Seven pathogenic variants leading to NSHL have so far been reported on two mitochondrial genes: MT-RNR1 encoding 12SrRNA and MT-TS1 encoding tRNA for Ser((UCN)) . We screened 729 prelingual NSHL subjects to determine the prevalence of MT-RNR1 variants at position m.961, m.1555A>G and m.1494C>T, and MT-TS1 m.7445A>G, m.7472insC m.7510T>C and m.7511T>C variants. Mitochondrial pathogenic variants were found in eight probands (1.1%). Five of them were found to have the m.1555A>G variant, two others had m.7472insC and one proband had m.7444G>A. The extended relatives of these probands showed variable degrees of hearing loss and age at onset. This study shows that mitochondrial pathogenic alleles contribute to about 1% prelingual hearing loss. This study will henceforth provide the reference for the prevalence of mitochondrial pathogenic alleles in the South Indian population, which to date has not been estimated. The m.1555A>G variant is a primary predisposing genetic factor for the development of hearing loss. Our study strongly suggests that mitochondrial genotyping should be considered for all hearing impaired individuals and particularly in families where transmission is compatible with maternal inheritance, after ruling out the most common variants. PMID:27530448

  6. SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

    PubMed

    Albert, Sébastien; Blons, Hélène; Jonard, Laurence; Feldmann, Delphine; Chauvin, Pierre; Loundon, Nathalie; Sergent-Allaoui, Annie; Houang, Muriel; Joannard, Alain; Schmerber, Sébastien; Delobel, Bruno; Leman, Jacques; Journel, Hubert; Catros, Hélène; Dollfus, Hélène; Eliot, Marie-Madeleine; David, Albert; Calais, Catherine; Drouin-Garraud, Valérie; Obstoy, Marie-Françoise; Tran Ba Huy, Patrice; Lacombe, Didier; Duriez, Françoise; Francannet, Christine; Bitoun, Pierre; Petit, Christine; Garabédian, Eréa-Noël; Couderc, Rémy; Marlin, Sandrine; Denoyelle, Françoise

    2006-06-01

    Sensorineural hearing loss is the most frequent sensory deficit of childhood and is of genetic origin in up to 75% of cases. It has been shown that mutations of the SLC26A4 (PDS) gene were involved in syndromic deafness characterized by congenital sensorineural hearing impairment and goitre (Pendred's syndrome), as well as in congenital isolated deafness (DFNB4). While the prevalence of SLC26A4 mutations in Pendred's syndrome is clearly established, it remains to be studied in large cohorts of patients with nonsyndromic deafness and detailed clinical informations. In this report, 109 patients from 100 unrelated families, aged from 1 to 32 years (median age: 10 years), with nonsyndromic deafness and enlarged vestibular aqueduct, were genotyped for SLC26A4 using DHPLC molecular screening and sequencing. In all, 91 allelic variants were observed in 100 unrelated families, of which 19 have never been reported. The prevalence of SLC26A4 mutations was 40% (40/100), with biallelic mutation in 24% (24/100), while six families were homozygous. All patients included in this series had documented deafness, associated with EVA and without any evidence of syndromic disease. Among patients with SLC26A4 biallelic mutations, deafness was more severe, fluctuated more than in patients with no mutation. In conclusion, the incidence of SLC26A4 mutations is high in patients with isolated deafness and enlarged vestibular aqueduct and could represent up to 4% of nonsyndromic hearing impairment. SLC26A4 could be the second most frequent gene implicated in nonsyndromic deafness after GJB2, in this Caucasian population. PMID:16570074

  7. Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.

    PubMed

    Schraders, Margit; Lee, Kwanghyuk; Oostrik, Jaap; Huygen, Patrick L M; Ali, Ghazanfar; Hoefsloot, Lies H; Veltman, Joris A; Cremers, Frans P M; Basit, Sulman; Ansar, Muhammad; Cremers, Cor W R J; Kunst, Henricus P M; Ahmad, Wasim; Admiraal, Ronald J C; Leal, Suzanne M; Kremer, Hannie

    2010-02-12

    We identified overlapping homozygous regions within the DFNB25 locus in two Dutch and ten Pakistani families with sensorineural autosomal-recessive nonsyndromic hearing impairment (arNSHI). Only one of the families, W98-053, was not consanguineous, and its sibship pointed toward a reduced critical region of 0.9 Mb. This region contained the GRXCR1 gene, and the orthologous mouse gene was described to be mutated in the pirouette (pi) mutant with resulting hearing loss and circling behavior. Sequence analysis of the GRXCR1 gene in hearing-impaired family members revealed splice-site mutations in two Dutch families and a missense and nonsense mutation, respectively, in two Pakistani families. The splice-site mutations are predicted to cause frameshifts and premature stop codons. In family W98-053, this could be confirmed by cDNA analysis. GRXCR1 is predicted to contain a GRX-like domain. GRX domains are involved in reversible S-glutathionylation of proteins and thereby in the modulation of activity and/or localization of these proteins. The missense mutation is located in this domain, whereas the nonsense and splice-site mutations may result in complete or partial absence of the GRX-like domain or of the complete protein. Hearing loss in patients with GRXCR1 mutations is congenital and is moderate to profound. Progression of the hearing loss was observed in family W98-053. Vestibular dysfunction was observed in some but not all affected individuals. Quantitative analysis of GRXCR1 transcripts in fetal and adult human tissues revealed a preferential expression of the gene in fetal cochlea, which may explain the nonsyndromic nature of the hearing impairment. PMID:20137778

  8. Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.

    PubMed

    Schraders, Margit; Oostrik, Jaap; Huygen, Patrick L M; Strom, Tim M; van Wijk, Erwin; Kunst, Henricus P M; Hoefsloot, Lies H; Cremers, Cor W R J; Admiraal, Ronald J C; Kremer, Hannie

    2010-04-01

    We identified overlapping homozygous regions within the DFNB84 locus in a nonconsanguineous Dutch family and a consanguineous Moroccan family with sensorineural autosomal-recessive nonsyndromic hearing impairment (arNSHI). The critical region of 3.17 Mb harbored the PTPRQ gene and mouse models with homozygous mutations in the orthologous gene display severe hearing loss. We show that the human PTPRQ gene was not completely annotated and that additional, alternatively spliced exons are present at the 5' end of the gene. Different PTPRQ isoforms are encoded with a varying number of fibronectin type 3 (FN3) domains, a transmembrane domain, and a phosphatase domain. Sequence analysis of the PTPRQ gene in members of the families revealed a nonsense mutation in the Dutch family and a missense mutation in the Moroccan family. The missense mutation is located in one of the FN3 domains. The nonsense mutation results in a truncated protein with only a small number of FN3 domains and no transmembrane or phosphatase domain. Hearing loss in the patients with PTPRQ mutations is likely to be congenital and moderate to profound and most severe in the family with the nonsense mutation. Progression of the hearing loss was observed in both families. The hearing loss is accompanied by vestibular dysfunction in all affected individuals. Although we show that PTPRQ is expressed in many tissues, no symptoms other than deafness were observed in the patients. PMID:20346435

  9. Genetics of Nonsyndromic Congenital Hearing Loss

    PubMed Central

    Egilmez, Oguz Kadir; Kalcioglu, M. Tayyar

    2016-01-01

    Congenital hearing impairment affects nearly 1 in every 1000 live births and is the most frequent birth defect in developed societies. Hereditary types of hearing loss account for more than 50% of all congenital sensorineural hearing loss cases and are caused by genetic mutations. HL can be either nonsyndromic, which is restricted to the inner ear, or syndromic, a part of multiple anomalies affecting the body. Nonsyndromic HL can be categorised by mode of inheritance, such as autosomal dominant (called DFNA), autosomal recessive (DFNB), mitochondrial, and X-linked (DFN). To date, 125 deafness loci have been reported in the literature: 58 DFNA loci, 63 DFNB loci, and 4 X-linked loci. Mutations in genes that control the adhesion of hair cells, intracellular transport, neurotransmitter release, ionic hemeostasis, and cytoskeleton of hair cells can lead to malfunctions of the cochlea and inner ear. In recent years, with the increase in studies about genes involved in congenital hearing loss, genetic counselling and treatment options have emerged and increased in availability. This paper presents an overview of the currently known genes associated with nonsyndromic congenital hearing loss and mutations in the inner ear. PMID:26989561

  10. Genetics of Nonsyndromic Congenital Hearing Loss.

    PubMed

    Egilmez, Oguz Kadir; Kalcioglu, M Tayyar

    2016-01-01

    Congenital hearing impairment affects nearly 1 in every 1000 live births and is the most frequent birth defect in developed societies. Hereditary types of hearing loss account for more than 50% of all congenital sensorineural hearing loss cases and are caused by genetic mutations. HL can be either nonsyndromic, which is restricted to the inner ear, or syndromic, a part of multiple anomalies affecting the body. Nonsyndromic HL can be categorised by mode of inheritance, such as autosomal dominant (called DFNA), autosomal recessive (DFNB), mitochondrial, and X-linked (DFN). To date, 125 deafness loci have been reported in the literature: 58 DFNA loci, 63 DFNB loci, and 4 X-linked loci. Mutations in genes that control the adhesion of hair cells, intracellular transport, neurotransmitter release, ionic hemeostasis, and cytoskeleton of hair cells can lead to malfunctions of the cochlea and inner ear. In recent years, with the increase in studies about genes involved in congenital hearing loss, genetic counselling and treatment options have emerged and increased in availability. This paper presents an overview of the currently known genes associated with nonsyndromic congenital hearing loss and mutations in the inner ear. PMID:26989561

  11. A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

    PubMed Central

    Nielsen, Morten S.; Corydon, Thomas J.; Demontis, Ditte; Starnawska, Anna; Hedemand, Anne; Buniello, Annalisa; Niola, Francesco; Overgaard, Michael T.; Leal, Suzanne M.; Ahmad, Wasim; Wikman, Friedrik P.; Petersen, Kirsten B.; Crüger, Dorthe G.; Oostrik, Jaap; Kremer, Hannie; Tommerup, Niels; Frödin, Morten; Steel, Karen P.; Tranebjærg, Lisbeth; Børglum, Anders D.

    2015-01-01

    Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a large number of NSHI families have unexplained etiology, suggesting that there are many more genes to be identified. In this study we used SNP-based linkage analysis and follow up microsatellite markers to identify a novel locus (DFNA66) on chromosome 6q15-21 (LOD 5.1) in a large Danish family with dominantly inherited NSHI. By locus specific capture and next-generation sequencing, we identified a c.574C>T heterozygous nonsense mutation (p.R192*) in CD164. This gene encodes a 197 amino acid transmembrane sialomucin (known as endolyn, MUC-24 or CD164), which is widely expressed and involved in cell adhesion and migration. The mutation segregated with the phenotype and was absent in 1200 Danish control individuals and in databases with whole-genome and exome sequence data. The predicted effect of the mutation was a truncation of the last six C-terminal residues of the cytoplasmic tail of CD164, including a highly conserved canonical sorting motif (YXXФ). In whole blood from an affected individual, we found by RT-PCR both the wild-type and the mutated transcript suggesting that the mutant transcript escapes nonsense mediated decay. Functional studies in HEK cells demonstrated that the truncated protein was almost completely retained on the plasma cell membrane in contrast to the wild-type protein, which targeted primarily to the endo-lysosomal compartments, implicating failed endocytosis as a possible disease mechanism. In the mouse ear, we found CD164 expressed in the inner and outer hair cells of the organ of Corti, as well as in other locations in the cochlear duct. In conclusion, we have identified a new DFNA locus located on chromosome 6q15-21 and implicated CD164 as a novel gene for hearing impairment. PMID:26197441

  12. A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.

    PubMed

    Nyegaard, Mette; Rendtorff, Nanna D; Nielsen, Morten S; Corydon, Thomas J; Demontis, Ditte; Starnawska, Anna; Hedemand, Anne; Buniello, Annalisa; Niola, Francesco; Overgaard, Michael T; Leal, Suzanne M; Ahmad, Wasim; Wikman, Friedrik P; Petersen, Kirsten B; Crüger, Dorthe G; Oostrik, Jaap; Kremer, Hannie; Tommerup, Niels; Frödin, Morten; Steel, Karen P; Tranebjærg, Lisbeth; Børglum, Anders D

    2015-07-01

    Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a large number of NSHI families have unexplained etiology, suggesting that there are many more genes to be identified. In this study we used SNP-based linkage analysis and follow up microsatellite markers to identify a novel locus (DFNA66) on chromosome 6q15-21 (LOD 5.1) in a large Danish family with dominantly inherited NSHI. By locus specific capture and next-generation sequencing, we identified a c.574C>T heterozygous nonsense mutation (p.R192*) in CD164. This gene encodes a 197 amino acid transmembrane sialomucin (known as endolyn, MUC-24 or CD164), which is widely expressed and involved in cell adhesion and migration. The mutation segregated with the phenotype and was absent in 1200 Danish control individuals and in databases with whole-genome and exome sequence data. The predicted effect of the mutation was a truncation of the last six C-terminal residues of the cytoplasmic tail of CD164, including a highly conserved canonical sorting motif (YXXФ). In whole blood from an affected individual, we found by RT-PCR both the wild-type and the mutated transcript suggesting that the mutant transcript escapes nonsense mediated decay. Functional studies in HEK cells demonstrated that the truncated protein was almost completely retained on the plasma cell membrane in contrast to the wild-type protein, which targeted primarily to the endo-lysosomal compartments, implicating failed endocytosis as a possible disease mechanism. In the mouse ear, we found CD164 expressed in the inner and outer hair cells of the organ of Corti, as well as in other locations in the cochlear duct. In conclusion, we have identified a new DFNA locus located on chromosome 6q15-21 and implicated CD164 as a novel gene for hearing impairment. PMID:26197441

  13. A Point Mutation in the Gene for Asparagine-Linked Glycosylation 10B (Alg10b) Causes Nonsyndromic Hearing Impairment in Mice (Mus musculus)

    PubMed Central

    Probst, Frank J.; Corrigan, Rebecca R.; del Gaudio, Daniela; Salinger, Andrew P.; Lorenzo, Isabel; Gao, Simon S.; Chiu, Ilene; Xia, Anping

    2013-01-01

    The study of mouse hearing impairment mutants has led to the identification of a number of human hearing impairment genes and has greatly furthered our understanding of the physiology of hearing. The novel mouse mutant neurological/sensory 5 (nse5) demonstrates a significantly reduced or absent startle response to sound and is therefore a potential murine model of human hearing impairment. Genetic analysis of 500 intercross progeny localized the mutant locus to a 524 kilobase (kb) interval on mouse chromosome 15. A missense mutation in a highly-conserved amino acid was found in the asparagine-linked glycosylation 10B gene (Alg10b), which is within the critical interval for the nse5 mutation. A 20.4 kb transgene containing a wildtype copy of the Alg10b gene rescued the mutant phenotype in nse5/nse5 homozygous animals, confirming that the mutation in Alg10b is responsible for the nse5/nse5 mutant phenotype. Homozygous nse5/nse5 mutants had abnormal auditory brainstem responses (ABRs), distortion product otoacoustic emissions (DPOAEs), and cochlear microphonics (CMs). Endocochlear potentials (EPs), on the other hand, were normal. ABRs and DPOAEs also confirmed the rescue of the mutant nse5/nse5 phenotype by the wildtype Alg10b transgene. These results suggested a defect in the outer hair cells of mutant animals, which was confirmed by histologic analysis. This is the first report of mutation in a gene involved in the asparagine (N)-linked glycosylation pathway causing nonsyndromic hearing impairment, and it suggests that the hearing apparatus, and the outer hair cells in particular, are exquisitely sensitive to perturbations of the N-linked glycosylation pathway. PMID:24303013

  14. Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment

    PubMed Central

    Wang, Hong-Yang; Zhao, Ya-Li; Liu, Qiong; Yuan, Hu; Gao, Yun; Lan, Lan; Yu, Lan; Wang, Da-Yong; Guan, Jing; Wang, Qiu-Ju

    2015-01-01

    Background: There are more than 300 genetic loci that have been found to be related to hereditary hearing impairment (HHI), including 92 causative genes for nonsyndromic hearing loss, among which 34 genes are related to autosomal dominant nonsyndromic HHI (ADNSHHI). Traditional linkage analysis and candidate gene sequencing are not effective at detecting the ADNSHHI, especially for the unconditional families that may have more than one pathogenic cause. This study identified two disease-causing genes TJP2 and GJB2 in a Chinese family with unconditional ADNSHHI. Methods: To decipher the genetic code of a Chinese family (family 686) with ADNSHHI, different gene screening techniques have been performed, including linkage analysis, candidate genes screening, high-throughput sequencing and Sanger sequencing. These techniques were done on samples obtained from this family over a period of 10 years. Results: We identified a pathogenic missense mutation, c. 2081G>A (p.G694E), in TJP2, a gene that plays a crucial role in apoptosis and age-related hearing loss (ARHL). The mutation was co-segregated in this pedigree in all, but not in the two patients who presented with different phenotypes from the other affected family members. In one of the two patients, we confirmed that the compound heterozygosity for p. Y136* and p.G45E in the GJB2 gene may account for the phenotype shown in this patient. Conclusions: We identified the co-occurrence of two genetic causes in family 686. The possible disease-causing missense mutation of TJP2 in family 686 presents an opportunity for further investigation into ARHL. It is necessary to combine various genes screening methods, especially for some unconventional cases. PMID:26668150

  15. A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3.

    PubMed

    Hassan, Muhammad Jawad; Santos, Regie Lyn P; Rafiq, Muhammad Arshad; Chahrour, Maria H; Pham, Thanh L; Wajid, Muhammad; Hijab, Nadine; Wambangco, Michael; Lee, Kwanghyuk; Ansar, Muhammad; Yan, Kai; Ahmad, Wasim; Leal, Suzanne M

    2006-01-01

    Hereditary hearing impairment (HI) displays extensive genetic heterogeneity. Autosomal recessive (AR) forms of prelingual HI account for approximately 75% of cases with a genetic etiology. A novel AR non-syndromic HI locus (DFNB47) was mapped to chromosome 2p25.1-p24.3, in two distantly related Pakistani kindreds. Genome scan and fine mapping were carried out using microsatellite markers. Multipoint linkage analysis resulted in a maximum LOD score of 4.7 at markers D2S1400 and D2S262. The three-unit support interval was bounded by D2S330 and D2S131. The region of homozygosity was found within the three-unit support interval and flanked by markers D2S2952 and D2S131, which corresponds to 13.2 cM according to the Rutgers combined linkage-physical map. This region contains 5.3 Mb according to the sequence-based physical map. Three candidate genes, KCNF1, ID2 and ATP6V1C2 were sequenced, and were found to be negative for functional sequence variants. PMID:16261342

  16. A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3

    PubMed Central

    Hassan, Muhammad Jawad; Santos, Regie Lyn P.; Rafiq, Muhammad Arshad; Chahrour, Maria H.; Pham, Thanh L.; Wajid, Muhammad; Hijab, Nadine; Wambangco, Michael; Lee, Kwanghyuk; Ansar, Muhammad; Yan, Kai; Ahmad, Wasim; Leal, Suzanne M.

    2010-01-01

    Hereditary hearing impairment (HI) displays extensive genetic heterogeneity. Autosomal recessive (AR) forms of prelingual HI account for ~75% of cases with a genetic etiology. A novel AR non-syndromic HI locus (DFNB47) was mapped to chromosome 2p25.1-p24.3, in two distantly related Pakistani kindreds. Genome scan and fine mapping were carried out using microsatellite markers. Multipoint linkage analysis resulted in a maximum LOD score of 4.7 at markers D2S1400 and D2S262. The three-unit support interval was bounded by D2S330 and D2S131. The region of homozygosity was found within the three-unit support interval and flanked by markers D2S2952 and D2S131, which corresponds to 13.2 cM according to the Rutgers combined linkage-physical map. This region contains 5.3 Mb according to the sequence-based physical map. Three candidate genes, KCNF1, ID2 and ATP6V1C2 were sequenced, and were found to be negative for functional sequence variants. PMID:16261342

  17. Hearing Impairments

    NASA Astrophysics Data System (ADS)

    Cavender, Anna; Ladner, Richard E.

    For many people with hearing impairments, the degree of hearing loss is only a small aspect of their disability and does not necessarily determine the types of accessibility solutions or accommodations that may be required. For some people, the ability to adjust the audio volume may be sufficient. For others, translation to a signed language may be more appropriate. For still others, access to text alternatives may be the best solution. Because of these differences, it is important for researchers in Web accessibility to understand that people with hearing impairments may have very different cultural-linguistic traditions and personal backgrounds.

  18. Associations Between TGFA/TGFB3/MSX1 Gene Polymorphisms and Congenital Non-Syndromic Hearing Impairment in a Chinese Population

    PubMed Central

    Du, Jihong; Deng, Jianhua

    2016-01-01

    Background The aim of this study was to investigate whether the TGFA/TGFB3/MSX1 gene polymorphisms and haplotypes lead to individual differences between congenital non-syndromic hearing impairment (NSHI) patients and normal people in a Chinese population and to analyze the risk factors for NSHI. Material/Methods Between December 2010 and September 2014, 343 congenital NSHI patients were recruited as cases, and 272 healthy subjects were recruited as controls. Denaturing high-performance liquid chromatography (DHPLC) was used to identify genotypes, SHEsis software was used to conduct gene linkage disequilibrium and haplotype analyses, and regression analysis was performed to identify risk factors for congenital NSHI. Results The distribution of genotype frequencies and allele frequencies of TGFA rs3771494, TGFB3 rs3917201 and rs2268626, and MSX1 rs3821949 and rs62636562 were significantly different between the case and the control groups (all P<0.05). TGFA/TGFB3/MSX1 gene rs3771494, rs1058213, rs3917201, rs2268626, rs3821949, and rs62636562 haplotype analysis showed that haplotype CCGTAC and TTACGT might be protective factors (both P<0.001), while TTGCGC might be a risk factor for the normal population (P<0.001). The other risk factors include paternal smoking, advanced maternal age, maternal sickness history, maternal contact with pesticides or similar drugs, maternal abortion history, maternal medication history, maternal passive smoking history during pregnancy, rs3771494 CT, rs2268626 CC and TC, and rs3821949 GG and AG genotypes were risk factors (all P<0.05), while maternal vitamin supplements during pregnancy, rs3917201 GA, rs62636562 TT and CT genotypes were protective factors for congenital NSHI (all P<0.05). Conclusions rs3771494, rs3917201, rs2268626, rs3821949 and rs62636562 might be associated with congenital NSHI. PMID:27356075

  19. Associations Between TGFA/TGFB3/MSX1 Gene Polymorphisms and Congenital Non-Syndromic Hearing Impairment in a Chinese Population.

    PubMed

    Du, Jihong; Deng, Jianhua

    2016-01-01

    BACKGROUND The aim of this study was to investigate whether the TGFA/TGFB3/MSX1 gene polymorphisms and haplotypes lead to individual differences between congenital non-syndromic hearing impairment (NSHI) patients and normal people in a Chinese population and to analyze the risk factors for NSHI. MATERIAL AND METHODS Between December 2010 and September 2014, 343 congenital NSHI patients were recruited as cases, and 272 healthy subjects were recruited as controls. Denaturing high-performance liquid chromatography (DHPLC) was used to identify genotypes, SHEsis software was used to conduct gene linkage disequilibrium and haplotype analyses, and regression analysis was performed to identify risk factors for congenital NSHI. RESULTS The distribution of genotype frequencies and allele frequencies of TGFA rs3771494, TGFB3 rs3917201 and rs2268626, and MSX1 rs3821949 and rs62636562 were significantly different between the case and the control groups (all P<0.05). TGFA/TGFB3/MSX1 gene rs3771494, rs1058213, rs3917201, rs2268626, rs3821949, and rs62636562 haplotype analysis showed that haplotype CCGTAC and TTACGT might be protective factors (both P<0.001), while TTGCGC might be a risk factor for the normal population (P<0.001). The other risk factors include paternal smoking, advanced maternal age, maternal sickness history, maternal contact with pesticides or similar drugs, maternal abortion history, maternal medication history, maternal passive smoking history during pregnancy, rs3771494 CT, rs2268626 CC and TC, and rs3821949 GG and AG genotypes were risk factors (all P<0.05), while maternal vitamin supplements during pregnancy, rs3917201 GA, rs62636562 TT and CT genotypes were protective factors for congenital NSHI (all P<0.05). CONCLUSIONS rs3771494, rs3917201, rs2268626, rs3821949 and rs62636562 might be associated with congenital NSHI. PMID:27356075

  20. Hearing Impairment

    MedlinePlus

    ... known as noise-induced hearing loss (NIHL) . Personal music players are among the chief culprits of NIHL ... exposure to high noise levels (such as loud music) over time can cause permanent damage to the ...

  1. ABE. The Hearing Impaired.

    ERIC Educational Resources Information Center

    Carver, L. Sue

    This handbook was written to help teachers of adult basic education (ABE) adapt their teaching methods for hearing impaired persons. Written in a narrative format, the guide covers the following topics: ABE for the hearing impaired, hints for working with the hearing impaired without an interpreter, peer pairing, interpreters in the classroom…

  2. Screening of Connexin 26 in Nonsyndromic Hearing Loss

    PubMed Central

    Moreira, Danielle; Silva, Daniela da; Lopez, Priscila; Mantovani, Jair Cortez

    2014-01-01

    Introduction The first locus for nonsyndromic autosomal recessive hearing loss is on chromosome 13q11–22. The 35delG mutation is present in 80% of cases in which GJB2 is involved, which makes the study of this mutation very important. The viability and benefits of screening for mutations in the connexin 26 gene are now beginning to change the diagnostic evaluation and identification of the etiology of hearing loss. Objective To investigate the occurrence of the 35delG mutation in patients with nonsyndromic sensorineural hearing loss and their first degree relatives. Methods This transversal study included 72 patients from the local hospital. The patients were divided into three groups: group A, sensorineural hearing loss (n = 58); group B, first-degree relatives of group A with sensorineural hearing loss (n = 09); and group C, first-degree relatives of patients from group A without hearing loss (n = 05). All patients had audiological evaluation and genetic testing of the 35delG mutation. Results The 35delG mutation was found in four heterozygous mutations (three of them found in the same family). The other heterozygous mutation was found in a female patient with bilateral, moderate, prelingual, sensorineural hearing loss. A single homozygous mutation was found in a male patient, with severe sensorineural hearing loss in his right ear and profound hearing loss in the left ear. Conclusions The 35delG mutation was found in 7% of the cases. The test is easy to perform and inexpensive, but it is necessary to investigate other genes related to hearing loss. PMID:25992148

  3. TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.

    PubMed

    Battelino, Saba; Klancar, Gasper; Kovac, Jernej; Battelino, Tadej; Trebusak Podkrajsek, Katarina

    2016-05-01

    Nonsyndromic genetic deafness is highly heterogeneous in its clinical presentation, pattern of inheritance and underlying genetic causes. Mutations in TMPRSS3 gene encoding transmembrane serine protease account for <1 % of autosomal recessive nonsyndromic hearing loss (ARNSHL) in Caucasians. Targeted next generation sequencing in the index family with profound deaf parents and a son, and Sanger sequencing of selected TMPRSS3 gene regions in a cohort of thirty-five patients with suspected ARNSHL was adopted. A son and his mother in the index family were homozygous for TMPRSS3 c.208delC (p.His70Thrfs*19) variant. Father was digenic compound heterozygote for the same variant and common GJB2 c.35delG variant. Three additional patients from the ARNSHL cohort were homozygous for TMPRSS3 c.208delC. TMPRSS3 defects seem to be an important cause of ARNSHL in Slovenia resulting in uniform phenotype with profound congenital hearing loss, and satisfactory hearing and speech recognition outcome after cochlear implantation. Consequently, TMPRSS3 gene analysis should be included in the first tier of genetic investigations of ARNSHL along with GJB2 and GJB6 genes. PMID:26036852

  4. Hearing or speech impairment - resources

    MedlinePlus

    Resources - hearing or speech impairment ... The following organizations are good resources for information on hearing impairment or speech impairment: Alexander Graham Bell Association for the Deaf and Hard of Hearing -- www.agbell. ...

  5. Hearing Impairment and Retirement

    PubMed Central

    Fischer, Mary E; Cruickshanks, Karen J; Pinto, Alex; Klein, Barbara E K; Klein, Ronald; Dalton, Dayna S

    2013-01-01

    BACKGROUND Many factors influence the decision to retire including age, insurance and pension availability along with physical and mental health. Hearing impairment may be one such factor. PURPOSE The purpose of this study was to compare the 15 year retirement rate among subjects with and without hearing impairment. RESEARCH DESIGN Prospective, population-based study STUDY SAMPLE Subjects were participants in the Epidemiology of Hearing Loss Study (EHLS), a longitudinal investigation of age-related hearing loss. Participants who were working full- or part-time in 1993–1995 were included (n=1410, mean age=57.8 years). DATA COLLECTION AND ANALYSIS Data from four EHLS phases (1993–1995, 1998–2000, 2003–2005, and 2009–2010) were analyzed in 2010–2012. Hearing impairment was defined as a pure tone threshold average (at 0.5,1,2 and 4 kHz) greater than 25 dB HL in the worse ear. Employment status was determined at each of the four phases. Kaplan-Meier estimates of the cumulative incidence of retirement were calculated and Cox discrete-time modeling was used to determine the effect of hearing impairment on the rate of retirement. RESULTS The cumulative incidence of retirement was significantly (p < 0.02) higher in those with a hearing impairment (77%) compared to those without a hearing impairment (74%). After adjustment for age, gender, self-reported health, and history of chronic disease, there was no significant difference in the rate of retirement between those with and without a hearing impairment (Hazard Ratio (HR) = 0.9, 95% Confidence Interval (CI) = 0.7, 1.1). Similar results were observed when hearing aid users were excluded, when hearing impairment was based on the better ear thresholds, and when analyses were restricted to those less than 65 years of age and working full-time at baseline. Participants with a hearing impairment were less likely to state that the main reason for retirement was that the time seemed right. CONCLUSIONS Hearing impairment

  6. Hearing or speech impairment - resources

    MedlinePlus

    ... resources for information on hearing impairment or speech impairment: Alexander Graham Bell Association for the Deaf and Hard of Hearing -- www.agbell.org American Speech-Language-Hearing Association -- www.asha.org/public Center for ...

  7. Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

    PubMed Central

    Rehman, Atteeq U.; Gul, Khitab; Morell, Robert J.; Lee, Kwanghyuk; Ahmed, Zubair M.; Riazuddin, Saima; Ali, Rana A.; Shahzad, Mohsin; Jaleel, Ateeq-ul; Andrade, Paula B.; Khan, Shaheen N.; Khan, Saadullah; Brewer, Carmen C.; Ahmad, Wasim; Leal, Suzanne M.; Riazuddin, Sheikh

    2012-01-01

    A missense mutation of Gipc3 was previously reported to cause age-related hearing loss in mice. Point mutations of human GIPC3 were found in two small families, but association with hearing loss was not statistically significant. Here, we describe one frameshift and six missense mutations in GIPC3 cosegregating with DFNB72 hearing loss in six large families that support statistically significant evidence for genetic linkage. However, GIPC3 is not the only nonsyndromic hearing impairment gene in this region; no GIPC3 mutations were found in a family cosegregating hearing loss with markers of chromosome 19p. Haplotype analysis excluded GIPC3 from the obligate linkage interval in this family and defined a novel locus spanning 4.08 Mb and 104 genes. This closely linked but distinct nonsyndromic hearing loss locus was designated DFNB81. PMID:21660509

  8. HEARING IMPAIRMENT IN CHILDREN

    PubMed Central

    Kohlmoos, H. W.

    1953-01-01

    Abnormal behavior in children may frequently be caused by impairment of hearing. Early detection of the impairment and of the cause are of utmost importance, not only to prevent irreversible changes where that is possible, but to permit early beginning of special training for children who are permanently deaf. Recent studies have shown that deafness of infants may follow rubella in the mother in early pregnancy, or kernicterus caused by Rh incompatibilities. Measures to control these disorders are being investigated. Adequate and careful treatment of diseases of the nose, as well as surgical drainage of infected ears when necessary, are important factors in the prevention of hearing loss in children. PMID:13009516

  9. Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss.

    PubMed

    Choi, Byung Yoon; Park, Gibeom; Gim, Jungsoo; Kim, Ah Reum; Kim, Bong-Jik; Kim, Hyo-Sang; Park, Joo Hyun; Park, Taesung; Oh, Seung-Ha; Han, Kyu-Hee; Park, Woong-Yang

    2013-01-01

    Identification of causative genes for hereditary nonsyndromic hearing loss (NSHL) is important to decide treatment modalities and to counsel the patients. Due to the genetic heterogeneity in sensorineural genetic disorders, the high-throughput method can be adapted for the efficient diagnosis. To this end, we designed a new diagnostic pipeline to screen all the reported candidate genes for NSHL. For validation of the diagnostic pipeline, we focused upon familial NSHL cases that are most likely to be genetic, rather than to be infectious or environmental. Among the 32 familial NSHL cases, we were able to make a molecular genetic diagnosis from 12 probands (37.5%) in the first stage by their clinical features, characteristic inheritance pattern and further candidate gene sequencing of GJB2, SLC26A4, POU3F4 or mitochondrial DNA. Next we applied targeted resequencing on 80 NSHL genes in the remaining 20 probands. Each proband carried 4.8 variants that were not synonymous and had the occurring frequency of less than three among the 20 probands. These variants were then filtered out with the inheritance pattern of the family, allele frequency in normal hearing 80 control subjects, clinical features. Finally NSHL-causing candidate mutations were identified in 13(65%) of the 20 probands of multiplex families, bringing the total solve rate (or detection rate) in our familial cases to be 78.1% (25/32) Damaging mutations discovered by the targeted resequencing were distributed in nine genes such as WFS1, COCH, EYA4, MYO6, GJB3, COL11A2, OTOF, STRC and MYO3A, most of which were private. Despite the advent of whole genome and whole exome sequencing, we propose targeted resequencing and filtering strategy as a screening and diagnostic tool at least for familial NSHL to find mutations based upon its efficacy and cost-effectiveness. PMID:23990876

  10. Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non-syndromic hearing loss

    PubMed Central

    TAN, MINXING; SHEN, XIAOFEI; YAO, JUN; WEI, QINJUN; LU, YAJIE; CAO, XIN; XING, GUANGQIAN

    2014-01-01

    Hearing loss is the most common sensory deficit in humans and gaining a better understanding of the underlying causes is necessary to improve counseling and rehabilitation. In the present study, a genetic analysis of a Chinese family with autosomal dominant non-syndromic progressive hearing impairment was conducted and assessed. Whole-exome sequencing in combination with a co-segregation analysis identified a novel missense mutation in EYA4 exon 15 (c.T1301A; p.I411K). The mutation segregated with the hearing loss of the family. This mutation was not identified in the databases of 1000 Genome Project, dbSNP 130, HapMap and YH project or in matched controls. Bioinformatic analysis confirmed the pathogenic effects of this mutation. To the best of our knowledge, this is the first report to provide a description of a missense mutation in the EYA4 gene resulting in non-syndromic hearing loss. Our results provide additional molecular and clinical information in order to gain improved understanding of the pathogenesis of EYA4 mutations and the genotype-phenotype correlations of DFNA10 hearing loss. PMID:25242383

  11. Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6

    PubMed Central

    Rost, Simone; Bach, Elisa; Neuner, Cordula; Nanda, Indrajit; Dysek, Sandra; Bittner, Reginald E; Keller, Alexander; Bartsch, Oliver; Mlynski, Robert; Haaf, Thomas; Müller, Clemens R; Kunstmann, Erdmute

    2014-01-01

    Hereditary hearing loss is the most common human sensorineural disorder. Genetic causes are highly heterogeneous, with mutations detected in >40 genes associated with nonsyndromic hearing loss, to date. Whereas autosomal recessive and autosomal dominant inheritance is prevalent, X-linked forms of nonsyndromic hearing impairment are extremely rare. Here, we present a Hungarian three-generation family with X-linked nonsyndromic congenital hearing loss and the underlying genetic defect. Next-generation sequencing and subsequent segregation analysis detected a missense mutation (c.1771G>A, p.Gly591Ser) in the type IV collagen gene COL4A6 in all affected family members. Bioinformatic analysis and expression studies support this substitution as being causative. COL4A6 encodes the alpha-6 chain of type IV collagen of basal membranes, which forms a heterotrimer with two alpha-5 chains encoded by COL4A5. Whereas mutations in COL4A5 and contiguous X-chromosomal deletions involving COL4A5 and COL4A6 are associated with X-linked Alport syndrome, a nephropathy associated with deafness and cataract, mutations in COL4A6 alone have not been related to any hereditary disease so far. Moreover, our index patient and other affected family members show normal renal and ocular function, which is not consistent with Alport syndrome, but with a nonsyndromic type of hearing loss. In situ hybridization and immunostaining demonstrated expression of the COL4A6 homologs in the otic vesicle of the zebrafish and in the murine inner ear, supporting its role in normal ear development and function. In conclusion, our results suggest COL4A6 as being the fourth gene associated with X-linked nonsyndromic hearing loss. PMID:23714752

  12. Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.

    PubMed

    Rost, Simone; Bach, Elisa; Neuner, Cordula; Nanda, Indrajit; Dysek, Sandra; Bittner, Reginald E; Keller, Alexander; Bartsch, Oliver; Mlynski, Robert; Haaf, Thomas; Müller, Clemens R; Kunstmann, Erdmute

    2014-02-01

    Hereditary hearing loss is the most common human sensorineural disorder. Genetic causes are highly heterogeneous, with mutations detected in >40 genes associated with nonsyndromic hearing loss, to date. Whereas autosomal recessive and autosomal dominant inheritance is prevalent, X-linked forms of nonsyndromic hearing impairment are extremely rare. Here, we present a Hungarian three-generation family with X-linked nonsyndromic congenital hearing loss and the underlying genetic defect. Next-generation sequencing and subsequent segregation analysis detected a missense mutation (c.1771G>A, p.Gly591Ser) in the type IV collagen gene COL4A6 in all affected family members. Bioinformatic analysis and expression studies support this substitution as being causative. COL4A6 encodes the alpha-6 chain of type IV collagen of basal membranes, which forms a heterotrimer with two alpha-5 chains encoded by COL4A5. Whereas mutations in COL4A5 and contiguous X-chromosomal deletions involving COL4A5 and COL4A6 are associated with X-linked Alport syndrome, a nephropathy associated with deafness and cataract, mutations in COL4A6 alone have not been related to any hereditary disease so far. Moreover, our index patient and other affected family members show normal renal and ocular function, which is not consistent with Alport syndrome, but with a nonsyndromic type of hearing loss. In situ hybridization and immunostaining demonstrated expression of the COL4A6 homologs in the otic vesicle of the zebrafish and in the murine inner ear, supporting its role in normal ear development and function. In conclusion, our results suggest COL4A6 as being the fourth gene associated with X-linked nonsyndromic hearing loss. PMID:23714752

  13. Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations

    PubMed Central

    Vona, Barbara; Müller, Tobias; Nanda, Indrajit; Neuner, Cordula; Hofrichter, Michaela A. H.; Schröder, Jörg; Bartsch, Oliver; Läßig, Anne; Keilmann, Annerose; Schraven, Sebastian; Kraus, Fabian; Shehata-Dieler, Wafaa; Haaf, Thomas

    2014-01-01

    Purpose: Targeted next-generation sequencing provides a remarkable opportunity to identify variants in known disease genes, particularly in extremely heterogeneous disorders such as nonsyndromic hearing loss. The present study attempts to shed light on the complexity of hearing impairment. Methods: Using one of two next-generation sequencing panels containing either 80 or 129 deafness genes, we screened 30 individuals with nonsyndromic hearing loss (from 23 unrelated families) and analyzed 9 normal-hearing controls. Results: Overall, we found an average of 3.7 variants (in 80 genes) with deleterious prediction outcome, including a number of novel variants, in individuals with nonsyndromic hearing loss and 1.4 in controls. By next-generation sequencing alone, 12 of 23 (52%) probands were diagnosed with monogenic forms of nonsyndromic hearing loss; one individual displayed a DNA sequence mutation together with a microdeletion. Two (9%) probands have Usher syndrome. In the undiagnosed individuals (10/23; 43%) we detected a significant enrichment of potentially pathogenic variants as compared to controls. Conclusion: Next-generation sequencing combined with microarrays provides the diagnosis for approximately half of the GJB2 mutation–negative individuals. Usher syndrome was found to be more frequent in the study cohort than anticipated. The conditions in a proportion of individuals with nonsyndromic hearing loss, particularly in the undiagnosed group, may have been caused or modified by an accumulation of unfavorable variants across multiple genes. PMID:24875298

  14. A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family

    PubMed Central

    2014-01-01

    Background The genetic basis of autosomal dominant nonsyndromic hearing loss is complex. Genetic factors are responsible for approximately 50% of cases with congenital hearing loss. However, no previous studies have documented the clinical phenotype and genetic basis of autosomal dominant nonsyndromic hearing loss in Mongolians. Methods In this study, we performed exon capture sequencing of a Mongolian family with hereditary hearing loss and identified a novel mutation in TECTA gene, which encodes α -tectorin, a major component of the inner ear extracellular matrix that contacts the specialized sensory hair cells. Results The novel G → T missense mutation at nucleotide 6016 results in a substitution of amino acid aspartate at 2006 with tyrosine (Asp2006Tyr) in a highly conserved zona pellucida (ZP) domain of α-tectorin. The mutation is not found in control subjects from the same family with normal hearing and a genotype-phenotype correlation is observed. Conclusion A novel missense mutation c.6016 G > T (p.Asp2006Tyr) of TECTA gene is a characteristic TECTA-related mutation which causes autosomal dominant nonsyndromic hearing loss. Our result indicated that mutation in TECTA gene is responsible for the hearing loss in this Mongolian family. PMID:25008054

  15. Education for the Hearing Impaired (Auditorily Impaired).

    ERIC Educational Resources Information Center

    World Federation of the Deaf, Rome (Italy).

    Education for the hearing impaired is discussed in nine conference papers. J. N. Howarth describes "The Education of Deaf Children in Schools for Hearing Pupils in the United Kingdom" and A.I.Dyachkov of the U.S.S.R. outlines Didactical Principles of Educating the Deaf in the Light of their Rehabilitation Goal." Seven papers from Poland are also…

  16. Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss.

    PubMed

    Alloisio, N; Morlé, L; Bozon, M; Godet, J; Verhoeven, K; Van Camp, G; Plauchu, H; Muller, P; Collet, L; Lina-Granade, G

    1999-01-01

    A gene responsible for autosomal dominant non-syndromic hearing impairment in two families (DFNA8 and DFNA12) has recently been identified as TECTA encoding alpha-tectorin, a major component of the tectorial membrane. In these families, missense mutations within the zona pellucida domain of alpha-tectorin were associated with stable severe mid-frequency hearing loss. The present study reports linkage to DFNA12 in a new family with autosomal dominant high frequency hearing loss progressing from mild to moderate severity. The candidate region refined to 3.8 cM still contained the TECTA gene. A missense mutation (C1619S) was identified in the zonadhesin-like domain. This mutation abolishes the first of the vicinal cysteines (1619Cys-Gly-Leu- 1622Cys) present in the D4 von Willebrand factor (vWf) type D repeat. These results further support the involvement of TECTA mutations in autosomal dominant hearing impairment, and suggest that vicinal cysteines are involved in tectorial membrane matrix assembly. PMID:10196713

  17. Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation

    SciTech Connect

    Wang Qiuju; Li Qingzhong; Han Dongyi . E-mail: hdy301@263.net; Zhao Yali; Zhao Lidong; Qian Yaping; Yuan Hu; Li Ronghua; Zhai Suoqiang; Young Wieyen . E-mail: ywy301@263.net; Guan Minxin . E-mail: min-xin.guan@chmcc.org

    2006-02-10

    We report here the clinical, genetic, and molecular characterization of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss. Five of nine matrilineal relatives had aminoglycoside-induced hearing loss. These matrilineal relatives exhibited variable severity and audiometric configuration of hearing impairment, despite sharing some common features: being bilateral and having sensorineural hearing impairment. Sequence analysis of mitochondrial DNA (mtDNA) in the pedigree identified 16 variants and the homoplasmic 12S rRNA C1494T mutation, which was associated with hearing loss in the other large Chinese family. In fact, the occurrence of the C1494T mutation in these genetically unrelated pedigrees affected by hearing impairment strongly indicated that this mutation is involved in the pathogenesis of aminoglycoside-induced and nonsyndromic hearing loss. However, incomplete penetrance of hearing loss indicated that the C1494T mutation itself is not sufficient to produce a clinical phenotype but requires the involvement of modifier factors for the phenotypic expression. Those mtDNA variants, showing no evolutional conservation, may not have a potential modifying role in the pathogenesis of the C1494T mutation. However, nuclear background seems to contribute to the phenotypic variability of matrilineal relatives in this family. Furthermore, aminoglycosides modulate the expressivity and penetrance of deafness associated with the C1494T mutation in this family.

  18. Syntactic Performance of Hearing Impaired and Normal Hearing Individuals.

    ERIC Educational Resources Information Center

    Quigley, Stephen P.; King, Cynthia M.

    1980-01-01

    Describes two research programs on the syntactic abilities of hearing impaired and normal hearing individuals. The first program involved deaf students acquiring English structure; the second involved the construction of the Test of Syntactic Abilities and its application to deaf, hard of hearing, and normal hearing students in the United States,…

  19. Pegasus Project for the Hearing-Impaired.

    ERIC Educational Resources Information Center

    Krahe, Jane M.

    The Pegasus Project offered nine gifted hearing impaired students (11-15 years old) a summer enrichment experience with hearing peers. Courses included computer programming, literature, fine arts, physical and biological sciences, math enrichment, and sign language. All hearing impaired students also attended a special class on issues for the…

  20. Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population.

    PubMed

    Fedick, Anastasia M; Jalas, Chaim; Swaroop, Ananya; Smouha, Eric E; Webb, Bryn D

    2016-01-01

    Mutations in the OTOF gene have previously been shown to cause nonsyndromic prelingual deafness (DFNB9, OMIM 601071) as well as auditory neuropathy/dys-synchrony. In this study, the OTOF NM_194248.2 c.5332G>T, p.Val1778Phe variant was identified in a large Ashkenazi Jewish family as the causative variant in four siblings with hearing loss. Our analysis reveals a carrier frequency of the OTOF c.5332G>T, p.Val1778Phe variant of 1.27% in the Ashkenazi Jewish population, suggesting that this variant may be a significant contributor to nonsyndromic sensorineural hearing loss and should be considered for inclusion in targeted hearing loss panels for this population. Of note, the degree of hearing loss associated with this phenotype ranged from mild to moderately severe, with two of the four siblings not known to have hearing loss until they were genotyped and underwent pure tone audiometry and auditory brainstem response testing. The phenotypic variability along with the auditory neuropathy/dys-synchrony, which allows for the production of otoacoustic emissions, supports that nonsyndromic hearing loss caused by OTOF mutations may be much more common in the Ashkenazi Jewish population than currently appreciated due to a lack of diagnosis. PMID:27621663

  1. Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population

    PubMed Central

    Fedick, Anastasia M; Jalas, Chaim; Swaroop, Ananya; Smouha, Eric E; Webb, Bryn D

    2016-01-01

    Mutations in the OTOF gene have previously been shown to cause nonsyndromic prelingual deafness (DFNB9, OMIM 601071) as well as auditory neuropathy/dys-synchrony. In this study, the OTOF NM_194248.2 c.5332G>T, p.Val1778Phe variant was identified in a large Ashkenazi Jewish family as the causative variant in four siblings with hearing loss. Our analysis reveals a carrier frequency of the OTOF c.5332G>T, p.Val1778Phe variant of 1.27% in the Ashkenazi Jewish population, suggesting that this variant may be a significant contributor to nonsyndromic sensorineural hearing loss and should be considered for inclusion in targeted hearing loss panels for this population. Of note, the degree of hearing loss associated with this phenotype ranged from mild to moderately severe, with two of the four siblings not known to have hearing loss until they were genotyped and underwent pure tone audiometry and auditory brainstem response testing. The phenotypic variability along with the auditory neuropathy/dys-synchrony, which allows for the production of otoacoustic emissions, supports that nonsyndromic hearing loss caused by OTOF mutations may be much more common in the Ashkenazi Jewish population than currently appreciated due to a lack of diagnosis. PMID:27621663

  2. Copy number variants are a common cause of non-syndromic hearing loss

    PubMed Central

    2014-01-01

    Background Copy number variants (CNVs) are a well-recognized cause of genetic disease; however, methods for their identification are often gene-specific, excluded as ‘routine’ in screens of genetically heterogeneous disorders, and not implemented in most next-generation sequencing pipelines. For this reason, the contribution of CNVs to non-syndromic hearing loss (NSHL) is most likely under-recognized. We aimed to incorporate a method for CNV identification as part of our standard analysis pipeline and to determine the contribution of CNVs to genetic hearing loss. Methods We used targeted genomic enrichment and massively parallel sequencing to isolate and sequence all exons of all genes known to cause NSHL. We completed testing on 686 patients with hearing loss with no exclusions based on type of hearing loss or any other clinical features. For analysis we used an integrated method for detection of single nucleotide changes, indels and CNVs. CNVs were identified using a previously published method that utilizes median read-depth ratios and a sliding-window approach. Results Of 686 patients tested, 15.2% (104) carried at least one CNV within a known deafness gene. Of the 38.9% (267) of individuals for whom we were able to determine a genetic cause of hearing loss, a CNV was implicated in 18.7% (50). We identified CNVs in 16 different genes including 7 genes for which no CNVs have been previously reported. CNVs of STRC were most common (73% of CNVs identified) followed by CNVs of OTOA (13% of CNVs identified). Conclusion CNVs are an important cause of NSHL and their detection must be included in comprehensive genetic testing for hearing loss. PMID:24963352

  3. Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss.

    PubMed

    Bademci, G; Cengiz, F B; Foster Ii, J; Duman, D; Sennaroglu, L; Diaz-Horta, O; Atik, T; Kirazli, T; Olgun, L; Alper, H; Menendez, I; Loclar, I; Sennaroglu, G; Tokgoz-Yilmaz, S; Guo, S; Olgun, Y; Mahdieh, N; Bonyadi, M; Bozan, N; Ayral, A; Ozkinay, F; Yildirim-Baylan, M; Blanton, S H; Tekin, M

    2016-01-01

    The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D). This study demonstrates that individuals who are evaluated for NSHL can have pathogenic variants in SHL genes that are not usually considered for etiologic studies. PMID:27562378

  4. Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

    PubMed Central

    Bademci, G.; Cengiz, F. B.; Foster II, J.; Duman, D.; Sennaroglu, L.; Diaz-Horta, O.; Atik, T.; Kirazli, T.; Olgun, L.; Alper, H.; Menendez, I.; Loclar, I.; Sennaroglu, G.; Tokgoz-Yilmaz, S.; Guo, S.; Olgun, Y.; Mahdieh, N.; Bonyadi, M.; Bozan, N.; Ayral, A.; Ozkinay, F.; Yildirim-Baylan, M.; Blanton, S. H.; Tekin, M.

    2016-01-01

    The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D). This study demonstrates that individuals who are evaluated for NSHL can have pathogenic variants in SHL genes that are not usually considered for etiologic studies. PMID:27562378

  5. A novel frameshift mutation of POU4F3 gene associated with autosomal dominant non-syndromic hearing loss

    SciTech Connect

    Lee, Hee Keun; Park, Hong-Joon; Lee, Kyu-Yup; Park, Rekil; Kim, Un-Kyung

    2010-06-04

    Autosomal dominant mutations in the transcription factor POU4F3 gene are associated with non-syndromic hearing loss in humans; however, there have been few reports of mutations in this gene worldwide. We performed a mutation analysis of the POU4F3 gene in 42 unrelated Koreans with autosomal dominant non-syndromic hearing loss, identifying a novel 14-bp deletion mutation in exon 2 (c.662del14) in one patient. Audiometric examination revealed severe bilateral sensorineural hearing loss in this patient. The novel mutation led to a truncated protein that lacked both functional POU domains. We further investigated the functional distinction between wild-type and mutant POU4F3 proteins using in vitro assays. The wild-type protein was completely localized in the nucleus, while the truncation of protein seriously affected its nuclear localization. In addition, the mutant failed to activate reporter gene expression. This is the first report of a POU4F3 mutation in Asia, and moreover our data suggest that further investigation will need to delineate ethnicity-specific genetic background for autosomal dominant non-syndromic hearing loss within Asian populations.

  6. Hearing-Impaired Formal Inservice Program.

    ERIC Educational Resources Information Center

    Northeast Regional Media Center for the Deaf, Amherst, MA.

    The HI-FI (Hearing-Impaired Formal Inservice) Program is described as a set of inservice materials targeted for workshops of regular classroom teachers and other school personnel concerned with school district and classroom management of hearing impaired (HI) children. An introductory section focuses on the design of the program materials,…

  7. Resource Guide for Persons with Hearing Impairments.

    ERIC Educational Resources Information Center

    IBM, Atlanta, GA. National Support Center for Persons with Disabilities.

    The resource guide identifies products which assist hearing impaired individuals in accessing IBM (International Business Machine) Personal Computers or the IBM PS/2 family of products. An introduction provides a general overview of ways computers can help hearing impaired persons. The document then provides descriptions of about 20 adaptive aids…

  8. The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations

    PubMed Central

    Yan, Denise; Kannan-Sundhari, Abhiraami; Vishwanath, Subramanian; Qing, Jie; Mittal, Rahul; Kameswaran, Mohan

    2015-01-01

    Deafness encompasses a series of etiologically heterogeneous disorders with mutations in more than 400 independent genes. However, several studies indicate that a large proportion of both syndromic and nonsyndromic forms of deafness in the racially diverse Indian and Pakistani populations are caused by defects in just a few genes. In these countries, there is a strong cultural preference for consanguineous marriage and an associated relatively high prevalence of genetic disorders. The current Indian population is approximately 1.2 billion and it is estimated that 30,000 infants are born with congenital sensorineural hearing loss (HL) each year. The estimated rate of profound bilateral HL is 1.6 per 1000 in Pakistan and 70% of this HL arises in consanguineous families. Knowledge of the genetic cause of deafness within a distinct population is important for accurate genetic counseling and early diagnosis for timely intervention and treatment options. Many sources and technologies are now available for the testing of hearing efficiency. Population-based screening has been proposed as one of the major strategies for translating genetic and genomic advances into population health gains. This review of the genetics of deafness in Indian and Pakistani populations deals with the major causes of deafness in these countries and prospectives for reducing the incidence of inherited deafness. PMID:26186295

  9. Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss

    PubMed Central

    Atik, Tahir; Onay, Huseyin; Aykut, Ayca; Bademci, Guney; Kirazli, Tayfun; Tekin, Mustafa; Ozkinay, Ferda

    2015-01-01

    Comprehensive genetic testing has the potential to become the standard of care for individuals with hearing loss. In this study, we investigated the genetic etiology of autosomal recessive nonsyndromic hearing loss (ARNSHL) in a Turkish cohort including individuals with cochlear implant, who had a pedigree suggestive of an autosomal recessive inheritance. A workflow including prescreening of GJB2 and a targeted next generation sequencing panel (Illumına TruSightTM Exome) covering 2761 genes that we briefly called as mendelian exome sequencing was used. This panel includes 102 deafness genes and a number of genes causing Mendelian disorders. Using this approach, we identified causative variants in 21 of 29 families. Three different GJB2 variants were present in seven families. Remaining 14 families had 15 different variants in other known NSHL genes (MYO7A, MYO15A, MARVELD2, TMIE, DFNB31, LOXHD1, GPSM2, TMC1, USH1G, CDH23). Of these variants, eight are novel. Mutation detection rate of our workflow is 72.4%, confirming the usefulness of targeted sequencing approach in NSHL. PMID:26561413

  10. Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees

    PubMed Central

    Bakhchane, Amina; Charif, Majida; Salime, Sara; Boulouiz, Redouane; Nahili, Halima; Roky, Rachida

    2015-01-01

    Mutations in the TBC1D24 gene are responsible for four neurological presentations: infantile epileptic encephalopathy, infantile myoclonic epilepsy, DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures) and NSHL (non-syndromic hearing loss). For the latter, two recessive (DFNB86) and one dominant (DFNA65) mutations have so far been identified in consanguineous Pakistani and European/Chinese families, respectively. Here we report the results of a genetic study performed on a large Moroccan cohort of deaf patients that identified three families with compound heterozygote mutations in TBC1D24. Four novel mutations were identified, among which, one c.641G>A (p.Arg214His) was present in the three families, and has a frequency of 2% in control Moroccan population with normal hearing, suggesting that it acts as an hypomorphic variant leading to restricted deafness when combined with another recessive severe mutation. Altogether, our results show that mutations in TBC1D24 gene are a frequent cause (>2%) of NSHL in Morocco, and that due to its possible compound heterozygote recessive transmission, this gene should be further considered and screened in other deaf cohorts. PMID:26371875

  11. Genetic Analysis of Genes Related to Tight Junction Function in the Korean Population with Non-Syndromic Hearing Loss

    PubMed Central

    Sagong, Borum; Cho, Hyun-Ju; Bae, Jae Woong; Kim, Jeongho; Lee, Jinwook; Park, Hong-Joon; Choi, Jae Young; Lee, Kyu-Yup; Kim, Un-Kyung

    2014-01-01

    Tight junctions (TJs) are essential components of eukaryotic cells, and serve as paracellular barriers and zippers between adjacent tissues. TJs are critical for normal functioning of the organ of Corti, a part of the inner ear that causes loss of sensorineural hearing when damaged. To investigate the relation between genes involved in TJ function and hereditary loss of sensorineural hearing in the Korean population, we selected the TJP2 and CLDN14 genes as candidates for gene screening of 135 Korean individuals. The TJP2 gene, mutation of which causes autosomal dominant non-syndromic hearing loss (ADNSHL), lies at the DFNA51 locus on chromosome 9. The CLDN14 gene, mutation of which causes autosomal recessive non-syndromic hearing loss (ARNSHL), lies at the DFNB29 locus on chromosome 21. In the present study, we conducted genetic analyses of the TJP2 and CLDN14 genes in 87 unrelated patients with ADNSHL and 48 unrelated patients with either ARNSHL or potentially sporadic hearing loss. We identified two pathogenic variations, c.334G>A (p.A112T) and c.3562A>G (p.T1188A), and ten single nucleotide polymorphisms (SNPs) in the TJP2 gene. We found eight non-pathogenic variations in the CLDN14 gene. These findings indicate that, whereas mutation of the TJP2 gene might cause ADNSHL, CLDN14 is not a major causative gene for ARNSHL in the Korean population studied. Our findings may improve the understanding of the genetic cause of non-syndromic hearing loss in the Korean population. PMID:24752540

  12. Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNA{sup Ser(UCN)} genes in two Chinese families

    SciTech Connect

    Zhu Yi; Liao Zhisu; Li Zhiyuan; Chen Jianfu; Qian Yaping; Tang Xiaowen; Wang Jindan; Yang Li; Li Ronghua; Ji Jinzhang; Choo, Daniel I. |; Lu Jianxin . E-mail: jx@mail.wz.zj.cn; Guan Minxin |||. E-mail: min-xin.guan@chmcc.org

    2006-04-14

    We report here the clinical, genetic, and molecular characterization of two Chinese families with aminoglycoside induced and non-syndromic hearing impairment. Clinical and genetic evaluations revealed the variable severity and age-of-onset in hearing impairment in these families. Strikingly, there were extremely low penetrances of hearing impairment in these Chinese families. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the distinct sets of mtDNA polymorphism, in addition to the identical G7444A mutation associated with hearing loss. Indeed, the G7444A mutation in the CO1 gene and the precursor of tRNA{sup Ser(UCN)} gene is present in homoplasmy only in the maternal lineage of those pedigrees but not other members of these families and 164 Chinese controls. Their mitochondrial genomes belong to the Eastern Asian haplogroups C5a and D4a, respectively. In fact, the occurrence of the G7444A mutation in these several genetically unrelated subjects affected by hearing impairment strongly indicates that this mutation is involved in the pathogenesis of hearing impairment. However, there was the absence of other functionally significant mtDNA mutations in two Chinese pedigrees carrying the G7444A mutation. Therefore, nuclear modifier gene(s) or aminoglycoside(s) may play a role in the phenotypic expression of the deafness-associated G7444A mutation in these Chinese pedigrees.

  13. Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.

    PubMed

    Li, Yun; Pohl, Esther; Boulouiz, Redouane; Schraders, Margit; Nürnberg, Gudrun; Charif, Majida; Admiraal, Ronald J C; von Ameln, Simon; Baessmann, Ingelore; Kandil, Mostafa; Veltman, Joris A; Nürnberg, Peter; Kubisch, Christian; Barakat, Abdelhamid; Kremer, Hannie; Wollnik, Bernd

    2010-03-12

    We performed genome-wide homozygosity mapping in a large consanguineous family from Morocco and mapped the autosomal-recessive nonsyndromic hearing loss (ARNSHL) in this family to the DFNB79 locus on chromosome 9q34. By sequencing of 62 positional candidate genes of the critical region, we identified a causative homozygous 11 bp deletion, c.42_52del, in the TPRN gene in all seven affected individuals. The deletion is located in exon 1 and results in a frameshift and premature protein truncation (p.Gly15AlafsX150). Interestingly, the deleted sequence is part of a repetitive and CG-rich motive predicted to be prone to structural aberrations during crossover formation. We identified another family with progressive ARNSHL linked to this locus, whose affected members were shown to carry a causative 1 bp deletion (c.1347delG) in exon 1 of TPRN. The function of the encoded protein, taperin, is unknown; yet, partial homology to the actin-caping protein phostensin suggests a role in actin dynamics. PMID:20170898

  14. Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay

    PubMed Central

    Zhang, Fengguo; Xu, Lei; Zhang, Xue; Zhang, Guodong; Li, Jianfeng; Lv, Huaiqing; Bai, Xiaohui; Wang, Haibo

    2016-01-01

    Hearing loss is a common sensory disorder, and at least 50% of cases are due to a genetic etiology. Although hundreds of genes have been reported to be associated with nonsyndromic hearing loss, GJB2, SLC26A4, and mtDNA12SrRNA are the major contributors. However, the mutation spectrum of these common deafness genes varies among different ethnic groups. The present work summarized mutations in these three genes and their prevalence in 339 patients with nonsyndromic hearing loss at three different special education schools and one children's hospital in Linyi, China. A new multiplex genetic screening system “SNPscan assay” was employed to detect a total of 115 mutations of the above three genes. Finally, 48.67% of the patients were identified with hereditary hearing loss caused by mutations in GJB2, SLC26A4, and mtDNA12SrRNA. The carrying rate of mutations in the three genes was 37.76%, 19.75%, and 4.72%, respectively. This mutation profile in our study is distinct from other parts of China, with high mutation rate of GJB2 suggesting a unique mutation spectrum in this area. PMID:27247933

  15. Subclinical Congenital Cytomegalovirus Infection and Hearing Impairment

    ERIC Educational Resources Information Center

    Dahle, Arthur J.; And Others

    1974-01-01

    When the hearing sensitivity of children with subclinical congenital cytomegalovirus infection was evaluated and compared with that of a group of matched control subjects, nine of the 18 infected subjects were found to have some hearing loss, ranging from slight high-frequency impairments to a severe-to-profound unilateral loss. (MYS)

  16. Noise-induced hearing impairment and handicap

    NASA Technical Reports Server (NTRS)

    1984-01-01

    A permanent, noise-induced hearing loss has doubly harmful effect on speech communications. First, the elevation in the threshold of hearing means that many speech sounds are too weak to be heard, and second, very intense speech sounds may appear to be distorted. The whole question of the impact of noise-induced hearing loss upon the impairments and handicaps experienced by people with such hearing losses was somewhat controversial partly because of the economic aspects of related practical noise control and workmen's compensation.

  17. Virtual instrument for testing the hearing impaired

    NASA Astrophysics Data System (ADS)

    Norian, K. H.

    2001-02-01

    LABVIEW programing was used to build a virtual instrument to assess the needs of individual hearing impaired subjects to enable them to hear speech in background noise. The instrument acquires the noisy speech, adaptively removes noise from speech, and then feeds the speech to the subject. Design changes can quickly and easily be made to the instrument to assess the specific requirements of the electronic circuit of the hearing aid for the individual subject. The instrument provides a novel way of providing custom electronics for hearing aids.

  18. Genetic characteristics of the couple with non-syndromic sensorineural hearing loss and fertility guidance

    PubMed Central

    Liu, Ri-Ming; Liu, Hong-Jie; Cong, Jiang-Lin; Sun, Ai-Ling; Du, Jiang-Dong; Sun, Cheng-Ming

    2015-01-01

    Purpose: We aim to report a genetic testing and fertility guidance for the deaf through analyzing pedigree and molecular genetic characteristics of the couple who have non-syndromic sensorineural hearing loss (NSHL). Methods: One of hospitalized congenial deaf couple and family members were included in this study. The wife was twin pregnant woman and her gestational age was 31+5 pregnant weeks. The DNA was extracted from peripheral blood and umbilical vein blood, respectively. Mutation screening of common deafness genes was performed in pregnant women and other family members. Nine common mutations in four major deafness genes, GJB2 (35delG, 176del16, 235delC, 299delAT), GjB3 (C538T), SLC26A4 (IVS7-2A>G, A2168G) and Mitochondrial 12S rRNA (A1555G, C1494T), were detected simultaneously with a microarray based method. SLC26A4 whole genome sequencing was carried out for the results of the DNA microarray. According to the test results, the couple chose abortion termination of pregnancy twins, and after one year obtained singleton pregnancy by artificial insemination by donor (AID). In week 16 of pregnancy, amniocentesis had been done to collect fetal somatic cell and extract DNA, and then the above tests had been repeated. Results: The couple had SLC26A4 combined heterozygous mutation. Both parents had SLC26A4 single heterozygous mutation. Twin fetuses had SLC26A4 combined heterozygous mutation. The probability of naturally being pregnant and bearing deaf children for the pregnant women was 100%. Fetus obtained by AID had SLC26A4 single heterozygous mutation. After the birth of the baby, her hearing has been normal. Conclusions: To reduce children with congenital deafness, screening high mutation sites by microarray, combined with pedigree analysis and gene sequencing is effective, and should be used as a routine inspection item for the deaf before marriage and pregnancy. On the basis of genetic testing for the couple with hearing loss, human assisted reproductive

  19. [Working with hearing impairment: an integrated approach].

    PubMed

    van Til, Marten J; Kramer, Sophia E; Anema, Johannes R; Goverts, S T Theo

    2016-01-01

    Patients with hearing impairment are more likely to encounter health problems and difficulties at work than their colleagues with normal hearing. This is often not realised by either patients or professionals. In this article we describe three cases that illustrate how working conditions can influence the health of workers with hearing loss. We have implemented a vocational enablement protocol that follows a multidisciplinary approach in order to meet these patients' needs. Due to a mismatch between the demands of a job and an individual's auditory capacities, even a mild hearing impairment can cause serious problems if a patient works in adverse conditions. In addition, in many workplaces the ability to hear well is a safety issue. Professionals have to be aware of both possibilities. Specialized centres offer good facilities and ensure the optimal transfer of insight into the working environment by involving an occupational physician in their team. PMID:27050493

  20. Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

    PubMed Central

    Diaz-Horta, Oscar; Duman, Duygu; Foster, Joseph; Sırmacı, Aslı; Gonzalez, Michael; Mahdieh, Nejat; Fotouhi, Nikou; Bonyadi, Mortaza; Cengiz, Filiz Başak; Menendez, Ibis; Ulloa, Rick H.; Edwards, Yvonne J. K.; Züchner, Stephan; Blanton, Susan; Tekin, Mustafa

    2012-01-01

    Identification of the pathogenic mutations underlying autosomal recessive nonsyndromic hearing loss (ARNSHL) is difficult, since causative mutations in 39 different genes have so far been reported. After excluding mutations in the most common ARNSHL gene, GJB2, via Sanger sequencing, we performed whole-exome sequencing (WES) in 30 individuals from 20 unrelated multiplex consanguineous families with ARNSHL. Agilent SureSelect Human All Exon 50 Mb kits and an Illumina Hiseq2000 instrument were used. An average of 93%, 84% and 73% of bases were covered to 1X, 10X and 20X within the ARNSHL-related coding RefSeq exons, respectively. Uncovered regions with WES included those that are not targeted by the exome capture kit and regions with high GC content. Twelve homozygous mutations in known deafness genes, of which eight are novel, were identified in 12 families: MYO15A-p.Q1425X, -p.S1481P, -p.A1551D; LOXHD1-p.R1494X, -p.E955X; GIPC3-p.H170N; ILDR1-p.Q274X; MYO7A-p.G2163S; TECTA-p.Y1737C; TMC1-p.S530X; TMPRSS3-p.F13Lfs*10; TRIOBP-p.R785Sfs*50. Each mutation was within a homozygous run documented via WES. Sanger sequencing confirmed co-segregation of the mutation with deafness in each family. Four rare heterozygous variants, predicted to be pathogenic, in known deafness genes were detected in 12 families where homozygous causative variants were already identified. Six heterozygous variants that had similar characteristics to those abovementioned variants were present in 15 ethnically-matched individuals with normal hearing. Our results show that rare causative mutations in known ARNSHL genes can be reliably identified via WES. The excess of heterozygous variants should be considered during search for causative mutations in ARNSHL genes, especially in small-sized families. PMID:23226338

  1. Progressive Hearing Impairment in Children with Congenital Cytomegalovirus Infection.

    ERIC Educational Resources Information Center

    Dahle, Arthur J.; And Others

    1979-01-01

    Audiological assessment of 86 children (mean age 38 months at last evaluation time) with congenital cytomegalovirus infection revealed progressive hearing loss in four of 12 Ss with sensorineural hearing impairments. Case descriptions documented the progression of the hearing loss. (Author)

  2. GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss

    PubMed Central

    Sun, Dongmei; He, Zheyun; Gao, Yinglong; Zhang, Ting; Zhu, Yi; Chen, Ye; Guan, Min-Xin

    2015-01-01

    Mutations in Gap Junction Beta 2 (GJB2) have been reported to be a major cause of non-syndromic hearing loss in many populations worldwide. The spectrums and frequencies of GJB2 variants vary substantially among different ethnic groups, and the genotypes among these populations remain poorly understood. In the present study, we carried out a systematic and extended mutational screening of GJB2 gene in 1067 Han Chinese subjects with non-syndromic hearing loss, and the resultant GJB2 variants were evaluated by phylogenetic, structural and bioinformatic analysis. A total of 25 (23 known and 2 novel) GJB2 variants were identified, including 6 frameshift mutations, 1 nonsense mutation, 16 missense mutations and 2 silent mutations. In this cohort, c.235delC is the most frequently observed pathogenic mutation. The phylogenetic, structural and bioinformatic analysis showed that 2 novel variants c.127G>T (p.V43L), c.293G>C (p.R98P) and 2 known variants c. 107T>C (p.L36P) and c.187G>T (p.V63L) are localized at highly conserved amino acids. In addition, these 4 mutations are absent in 203 healthy individuals, therefore, they are probably the most likely candidate pathogenic mutations. In addition, 66 (24 novel and 42 known) genotypes were identified, including 6 homozygotes, 20 compound heterozygotes, 18 single heterozygotes, 21 genotypes harboring only polymorphism(s) and the wild type genotype. Among these, 153 (14.34%) subjects were homozygous for pathogenic mutations, 63 (5.91%) were compound heterozygotes, and 157 (14.71%) carried single heterozygous mutation. Furthermore, 65.28% (141/216) of these cases with two pathogenic mutations exhibited profound hearing loss. These data suggested that mutations in GJB2 gene are responsible for approximately 34.96% of non-syndromic hearing loss in Han Chinese population from Zhejiang Province in eastern China. In addition, our results also strongly supported the idea that other factors such as alterations in regulatory regions

  3. A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment

    PubMed Central

    Gandía, Marta; del Castillo, Francisco J.; Rodríguez-Álvarez, Francisco J.; Garrido, Gema; Villamar, Manuela; Calderón, Manuela; Moreno-Pelayo, Miguel A.; Moreno, Felipe; del Castillo, Ignacio

    2013-01-01

    The DFNB1 subtype of autosomal recessive, nonsyndromic hearing impairment, caused by mutations affecting the GJB2 (connection-26) gene, is highly prevalent in most populations worldwide. DFNB1 hearing impairment is mostly severe or profound and usually appears before the acquisition of speech (prelingual onset), though a small number of hypomorphic missense mutations result in mild or moderate deafness of postlingual onset. We identified a novel GJB2 splice-site mutation, c. -22-2A>C, in three siblings with mild postlingual hearing impairment that were compound heterozygous for c. -22-2A>C and c.35delG. Reverse transcriptase-PCR experiments performed on total RNA extracted from saliva samples from one of these siblings confirmed that c. -22-2A>C abolished the acceptor splice site of the single GJB2 intron, resulting in the absence of normally processed transcripts from this allele. However, we did isolate transcripts from the c. -22-2A>C allele that keep an intact GJB2 coding region and that were generated by use of an alternative acceptor splice site previously unknown. The residual expression of wild-type connection-26 encoded by these transcripts probably underlies the mild severity and late onset of the hearing impairment of these subjects. PMID:24039984

  4. Social Interactiion of Partially Mainstreamed Hearing-Impaired Children.

    ERIC Educational Resources Information Center

    Antia, Shirin D.

    1982-01-01

    The study examined social interaction of partially mainstreamed elementary grade children with their hearing (N=84) and hearing impaired (N=32) peers. It was found that hearing impaired children interacted less frequently with peers and more frequently with teachers than did hearing children. (Author)

  5. Predicting Language Performance in Hearing Impaired Children.

    ERIC Educational Resources Information Center

    Monsees, Edna K.

    The 2-year study evaluated the language performance of 69 hearing impaired, preschool children born following the rubella epidemic of the early 1960's in order to develop an instrument for objectively assessing language achievement and a predictive index of language achievement. Two language rating scales were developed which were tied to the…

  6. Music Instruction and the Hearing Impaired.

    ERIC Educational Resources Information Center

    Walczyk, Eugenia Bulawa

    1993-01-01

    Contends music education can help hearing-impaired students achieve both academic and social goals of Individuals with Disabilities Education Act (1990). Describes instructional content and methods of elementary program utilizing sign language, vocal music, and keyboard computer music systems. Concludes with description of school performance in…

  7. Evaluating Motor Profiles of the Hearing Impaired.

    ERIC Educational Resources Information Center

    Brunt, Denis; Dearmond, Dorothy A.

    1981-01-01

    A test for the evaluation of the motor ability of the hearing impaired is described, and illustrations of selected sign language directions used in its administration are presented. Among the skills assessed are running speed and agility, balance, and coordination. (JN)

  8. The Very Young Hearing-Impaired Child.

    ERIC Educational Resources Information Center

    World Federation of the Deaf, Rome (Italy).

    Five conference papers are presented on deaf preschool children and infants. "The Very Young Hearing-Impaired Child" by G.M. Harris of Canada; "The Organisation and Methods of Educational Work for Deaf Children at the Preschool Age" by K. Lundstrom of Sweden; "Speech Formation in the Young Deaf Child" by B. Wierzchowska and R. Szymanska of Poland;…

  9. Communication Methods for the Hearing Impaired.

    ERIC Educational Resources Information Center

    World Federation of the Deaf, Rome (Italy).

    Communication methods for the hearing impaired are discussed in 12 conference papers. Papers from the United States are "Adjustment through Oralism" by G. Fellendorf, "Prospectus of Patterning" (a method of teaching speech to deaf children) by M.S. Buckler, and "Visual Monitoring of Speech by the Deaf" by W. Pronovost. Papers from the U.S.S.R.,…

  10. Speaking Rates of Turkish Prelingually Hearing-Impaired Children

    ERIC Educational Resources Information Center

    Girgin, M. Cem

    2007-01-01

    The aim of training for the hearing impaired children in auditory oral approach is to develop good speaking abilities. However profoundly hearing-impaired children show a wide range of spoken language abilities, some having highly intelligible speeches while others have unintelligible ones. This is due to hearing-impaired children's speech…

  11. Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

    PubMed

    Chakchouk, Imen; Grati, M'hamed; Bademci, Guney; Bensaid, Mariem; Ma, Qi; Chakroun, Amine; Foster, Joseph; Yan, Denise; Duman, Duygu; Diaz-Horta, Oscar; Ghorbel, Abdelmonem; Mittal, Rahul; Farooq, Amjad; Tekin, Mustafa; Masmoudi, Saber; Liu, Xue Zhong

    2015-08-01

    Hearing loss (HL) is a major public health issue. It is clinically and genetically heterogeneous.The identification of the causal mutation is important for early diagnosis, clinical follow-up, and genetic counseling. HL due to mutations in COL11A2, encoding collagen type XI alpha-2, can be non-syndromic autosomal-dominant or autosomal-recessive, and also syndromic as in Otospondylomegaepiphyseal Dysplasia, Stickler syndrome type III, and Weissenbacher-Zweymuller syndrome. However, thus far only one mutation co-segregating with autosomal recessive non-syndromic hearing loss (ARNSHL) in a single family has been reported. In this study, whole exome sequencing of two consanguineous families with ARNSHL from Tunisia and Turkey revealed two novel causative COL11A2 mutations, c.109G > T (p.Ala37Ser) and c.2662C > A (p.Pro888Thr). The variants identified co-segregated with deafness in both families. All homozygous individuals in those families had early onset profound hearing loss across all frequencies without syndromic findings. The variants are predicted to be damaging the protein function. The p.Pro888Thr mutation affects a -Gly-X-Y- triplet repeat motif. The novel p.Ala37Ser is the first missense mutation located in the NC4 domain of the COL11A2 protein. Structural model suggests that this mutation will likely obliterate, or at least partially compromise, the ability of NC4 domain to interact with its cognate ligands. In conclusion, we confirm that COL11A2 mutations cause ARNSHL and broaden the mutation spectrum that may shed new light on genotype-phenotype correlation for the associated phenotypes and clinical follow-up. PMID:25633957

  12. Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53

    PubMed Central

    Chakchouk, Imen; Grati, M’hamed; Bademci, Guney; Bensaid, Mariem; Ma, Qi; Chakroun, Amine; Foster, Joseph; Yan, Denise; Duman, Duygu; Diaz-Horta, Oscar; Ghorbel, Abdelmonem; Mittal, Rahul; Farooq, Amjad; Tekin, Mustafa

    2015-01-01

    Hearing loss (HL) is a major public health issue. It is clinically and genetically heterogeneous. The identification of the causal mutation is important for early diagnosis, clinical follow-up, and genetic counseling. HL due to mutations in COL11A2, encoding collagen type XI alpha-2, can be non-syndromic autosomal-dominant or autosomal-recessive, and also syndromic as in Otospondylomegaepiphyseal Dysplasia, Stickler syndrome type III, and Weissenbacher–Zweymuller syndrome. However, thus far only one mutation co-segregating with autosomal recessive non-syndromic hearing loss (ARNSHL) in a single family has been reported. In this study, whole exome sequencing of two consanguineous families with ARNSHL from Tunisia and Turkey revealed two novel causative COL11A2 mutations, c.109G > T (p.Ala37Ser) and c.2662C > A (p.Pro888Thr). The variants identified co-segregated with deafness in both families. All homozygous individuals in those families had early onset profound hearing loss across all frequencies without syndromic findings. The variants are predicted to be damaging the protein function. The p.Pro888Thr mutation affects a -Gly-X–Y- triplet repeat motif. The novel p.Ala37Ser is the first missense mutation located in the NC4 domain of the COL11A2 protein. Structural model suggests that this mutation will likely obliterate, or at least partially compromise, the ability of NC4 domain to interact with its cognate ligands. In conclusion, we confirm that COL11A2 mutations cause ARNSHL and broaden the mutation spectrum that may shed new light on genotype–phenotype correlation for the associated phenotypes and clinical follow-up. PMID:25633957

  13. Is Hearing Impairment Associated with Rheumatoid Arthritis? A Review

    PubMed Central

    Emamifar, Amir; Bjoerndal, Kristine; Hansen, Inger M.J.

    2016-01-01

    Background: Rheumatoid arthritis (RA) is a systemic, inflammatory disease that affects 1% of the population. The auditory system may be involved during the course of disease; however the association of RA and hearing impairment has not been clearly defined. Objective: The objective of this review is to evaluate published clinical reports related to hearing impairment in patients with RA. Furthermore, we discuss possible pathologies and associated factors as well as new treatment modalities. Method: A thorough literature search was performed using available databases including Pubmed, Embase, Cochrane and ComDisDome to cover all relative reports. The following keywords were used: hearing loss, hearing difficulties, hearing disorders, hearing impairment, sensorineural hearing loss, conductive hearing loss, mixed hearing loss, autoimmune hearing loss, drug ototoxicity, drug-induced hearing loss, hearing test, audiometry, auditory dysfunction and rheumatoid arthritis. Conclusion: Based on our review it can be postulated that patients with RA are at higher risk of hearing impairment compared to healthy subjects in their course of the disease. The hearing impairment in RA seems to be a multifactorial condition; however the mechanisms of injury, as well as the relative risk factors, are not completely clear. This review can aid to clarify this condition and is a guide for further evaluation. To the best of our knowledge, this is the first review of hearing impairment in RA. PMID:27053970

  14. Teacher Strategies in Shared Reading for Children with Hearing Impairment

    ERIC Educational Resources Information Center

    Girgin, Ümit

    2013-01-01

    Problem Statement: Utilization of shared reading practice in hearing impaired children's literacy instruction may yield quite beneficial. However an investigation of Turkish literature revealed no studies regarding application of shared reading within elementary settings for hearing or hearing-impaired children. Furthermore international…

  15. The Concept of Fractional Number among Hearing-Impaired Students.

    ERIC Educational Resources Information Center

    Titus, Janet C.

    This study investigated hearing-impaired students' understanding of the mathematical concept of fractional numbers, as measured by their ability to determine the order and equivalence of fractional numbers. Twenty-one students (ages 10-16) with hearing impairments were compared with 26 students with normal hearing. The study concluded that…

  16. Diagnostic Evaluation and Educational Programing for Hearing Impaired Children.

    ERIC Educational Resources Information Center

    McCoy, George F.

    Various aspects of diagnostic evaluation and educational programing for hearing impaired children are described. Discussion of hearing disorders from a medical perspective covers anatomy of the ear, types and causes of hearing disorders, and medical and surgical treatment. A review of audiological assessment of hearing disorders focuses upon…

  17. Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.

    PubMed

    Xia, Wenjun; Liu, Fei; Ma, Duan

    2016-06-01

    Hearing impairment is considered as the most prevalent impairment worldwide. Almost 600 million people in the world suffer from mild or moderate hearing impairment, an estimated 10% of the human population. Genetic factors play an important role in the pathogenesis of this disorder. Hereditary hearing loss is divided into syndromic hearing loss (associated with other anomalies) and non-syndromic hearing loss (not associated with other anomalies). Approximately 80% of genetic deafness is non-syndromic. On the basis of the frequency of hearing loss, hereditary non-syndromic hearing loss can be divided into high-, mid-, low-, and total-frequency hearing loss. An audiometric finding of mid-frequency sensorineural hearing loss, or a "bowl-shaped" audiogram, is uncommon. Up to now, merely 7 loci have been linked to mid-frequency hearing loss. Only four genetic midfrequency deafness genes, namely, DFNA10 (EYA4), DFNA8/12 (TECTA), DFNA13 (COL11A2), DFNA44 (CCDC50), have been reported to date. This review summarizes the research progress of the four genes to draw attention to mid-frequency deafness genes. PMID:27142990

  18. Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss.

    PubMed

    Liu, Fei; Hu, Jiongjiong; Xia, Wenjun; Hao, Lili; Ma, Jing; Ma, Duan; Ma, Zhaoxin

    2015-01-01

    Autosomal dominant non-syndromic hearing loss is highly heterogeneous, and eyes absent 4 (EYA4) is a disease-causing gene. Most EYA4 mutations founded in the Eya-homologous region, however, no deafness causative missense mutation in variable region of EYA4 have previously been found. In this study, we identified a pathogenic missense mutation located in the variable region of the EYA4 gene for the first time in a four-generation Chinese family with 57 members. Whole-exome sequencing (WES) was performed on samples from one unaffected and two affected individuals to systematically search for deafness susceptibility genes, and the candidate mutations and the co-segregation of the phenotype were verified by polymerase chain reaction amplification and by Sanger sequencing in all of the family members. Then, we identified a novel EYA4 mutation in exon 8, c.511G>C; p.G171R, which segregated with postlingual and progressive autosomal dominant sensorineural hearing loss (SNHL). This report is the first to describe a missense mutation in the variable region domain of the EYA4 gene, which is not highly conserved in many species, indicating that the potential unconserved role of 171G>R in human EYA4 function is extremely important. PMID:25961296

  19. Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss

    PubMed Central

    Xia, Wenjun; Hao, Lili; Ma, Jing; Ma, Duan; Ma, Zhaoxin

    2015-01-01

    Autosomal dominant non-syndromic hearing loss is highly heterogeneous, and eyes absent 4 (EYA4) is a disease-causing gene. Most EYA4 mutations founded in the Eya-homologous region, however, no deafness causative missense mutation in variable region of EYA4 have previously been found. In this study, we identified a pathogenic missense mutation located in the variable region of the EYA4 gene for the first time in a four-generation Chinese family with 57 members. Whole-exome sequencing (WES) was performed on samples from one unaffected and two affected individuals to systematically search for deafness susceptibility genes, and the candidate mutations and the co-segregation of the phenotype were verified by polymerase chain reaction amplification and by Sanger sequencing in all of the family members. Then, we identified a novel EYA4 mutation in exon 8, c.511G>C; p.G171R, which segregated with postlingual and progressive autosomal dominant sensorineural hearing loss (SNHL). This report is the first to describe a missense mutation in the variable region domain of the EYA4 gene, which is not highly conserved in many species, indicating that the potential unconserved role of 171G>R in human EYA4 function is extremely important. PMID:25961296

  20. Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss

    PubMed Central

    Xia, Hong; Huang, Xiangjun; Guo, Yi; Hu, Pengzhi; He, Guangxiang; Deng, Xiong; Xu, Hongbo; Yang, Zhijian; Deng, Hao

    2015-01-01

    Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder, generally manifested with prelingual hearing loss and absence of other clinical manifestations. The aim of this study is to identify the pathogenic gene in a four-generation consanguineous Chinese family with ARNSHL. A novel homozygous variant, c.9316dupC (p.H3106Pfs*2), in the myoxin XVa gene (MYO15A) was identified by exome sequencing and Sanger sequencing. The homozygous MYO15A c.9316dupC variant co-segregated with the phenotypes in the ARNSHL family and was absent in two hundred normal controls. The variant was predicted to interfere with the formation of the Myosin XVa-whirlin-Eps8 complex at the tip of stereocilia, which is indispensable for stereocilia elongation. Our data suggest that the homozygous MYO15A c.9316dupC variant might be the pathogenic mutation, and exome sequencing is a powerful molecular diagnostic strategy for ARNSHL, an extremely heterogeneous disorder. Our findings extend the mutation spectrum of the MYO15A gene and have important implications for genetic counseling for the family. PMID:26308726

  1. Hearing loss severity: impaired processing of formant transition duration.

    PubMed

    Coez, A; Belin, P; Bizaguet, E; Ferrary, E; Zilbovicius, M; Samson, Y

    2010-08-01

    Normal hearing listeners exploit the formant transition (FT) detection to identify place of articulation for stop consonants. Neuro-imaging studies revealed that short FT induced less cortical activation than long FT. To determine the ability of hearing impaired listeners to distinguish short and long formant transitions (FT) from vowels of the same duration, 84 mild to severe hearing impaired listeners and 5 normal hearing listeners were asked to detect 10 synthesized stimuli with long (200 ms) or short (40 ms) FT among 30 stimuli of the same duration without FT. Hearing impaired listeners were tested with and without hearing aids. The effect of the difficulty of the task (short/long FT) was analysed as a function of the hearing loss with and without hearing aids. Normal hearing listeners were able to detect every FT (short and long). For hearing impaired listeners, the detection of long FT was better than that of short ones irrespective of their degree of hearing loss. The use of hearing aids improved detection of both kinds of FT; however, the detection of long FT remained much better than the detection of the short ones. The length of FT modified the ability of hearing impaired patients to detect FT. Short FT had access to less cortical processing than long FT and cochlea damages enhanced this specific deficit in short FT brain processing. These findings help to understand the limit of deafness rehabilitation in the time domain and should be taken into account in future devices development. PMID:20600193

  2. Early intervention programme for hearing impaired children.

    PubMed

    Narayanswamy, S

    1992-01-01

    The School for Young Deaf Children was founded in 1969 when the All India Institute of Speech and Hearing at Mysore and the Christian Medical College Hospital at Vellore started diagnosing hearing impairment in children and prescribing hearing aids. These schools admitted children when they were 5 years old. Bala Vidyalaya was funded as an experimental school to satisfy the needs of younger children. A multi sensory approach based on the Montessori method of teaching with special emphasis on language acquisition was adopted. The School that began with 5 children and 2 teachers had 120 children and 15 teachers in 1992: 50 children were under 3 years old and the rest were between 3 and 6 years. Early auditory management and training is the foundation of the child's linguistic achievement which help the child use the innate ability to develop sophisticated listening skills such as listening to one signal in the presence of competing sounds. Simple games captivate the infants. At the age of 2 1/2 years ideovisual reading is introduced to the child: written sentences are presented to the child about an activity that the child had just experienced. Even before 2 years of age he or she starts scribbling. School lessons are used as tools for writing. The school takes efforts to win the confidence of the parents. So far 97 children have joined the mainstream of education after an initial training the school. Of these, 6 are settled in jobs, 5 are in college or in postgraduate studies, 11 are studying at the university, 8 are in the higher secondary school (classes XI or XII)m 28 are studying in high school (class VI to class X), while the remaining 39 are in primary schools. It has been demonstrated that early educational intervention and involvement of the family into the educational program are very important for the successful integration of hearing-impaired children into the main stream. PMID:12286296

  3. Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

    PubMed Central

    Santos-Cortez, Regie Lyn P.; Lee, Kwanghyuk; Giese, Arnaud P.; Ansar, Muhammad; Amin-Ud-Din, Muhammad; Rehn, Kira; Wang, Xin; Aziz, Abdul; Chiu, Ilene; Hussain Ali, Raja; Smith, Joshua D.; Shendure, Jay; Bamshad, Michael; Nickerson, Deborah A.; Ahmed, Zubair M.; Ahmad, Wasim; Riazuddin, Saima; Leal, Suzanne M.

    2014-01-01

    Cyclic AMP (cAMP) production, which is important for mechanotransduction within the inner ear, is catalyzed by adenylate cyclases (AC). However, knowledge of the role of ACs in hearing is limited. Previously, a novel autosomal recessive non-syndromic hearing impairment locus DFNB44 was mapped to chromosome 7p14.1-q11.22 in a consanguineous family from Pakistan. Through whole-exome sequencing of DNA samples from hearing-impaired family members, a nonsense mutation c.3112C>T (p.Arg1038*) within adenylate cyclase 1 (ADCY1) was identified. This stop-gained mutation segregated with hearing impairment within the family and was not identified in ethnically matched controls or within variant databases. This mutation is predicted to cause the loss of 82 amino acids from the carboxyl tail, including highly conserved residues within the catalytic domain, plus a calmodulin-stimulation defect, both of which are expected to decrease enzymatic efficiency. Individuals who are homozygous for this mutation had symmetric, mild-to-moderate mixed hearing impairment. Zebrafish adcy1b morphants had no FM1-43 dye uptake and lacked startle response, indicating hair cell dysfunction and gross hearing impairment. In the mouse, Adcy1 expression was observed throughout inner ear development and maturation. ADCY1 was localized to the cytoplasm of supporting cells and hair cells of the cochlea and vestibule and also to cochlear hair cell nuclei and stereocilia. Ex vivo studies in COS-7 cells suggest that the carboxyl tail of ADCY1 is essential for localization to actin-based microvilli. These results demonstrate that ADCY1 has an evolutionarily conserved role in hearing and that cAMP signaling is important to hair cell function within the inner ear. PMID:24482543

  4. Deleterious oral habits in children with hearing impairment

    PubMed Central

    SUHANI, RALUCA DIANA; SUHANI, MIHAI FLAVIU; MUNTEAN, ALEXANDRINA; MESAROS, MICHAELA; BADEA, MINDRA EUGENIA

    2015-01-01

    Background and aims Deleterious oral habits represent a serious public health issue. The information available about this problem in children with hearing impairment is insufficient. The purpose of this study was to investigate the prevalence of deleterious oral habits among children with hearing impairment and comparing results against children without hearing impairment. Method This epidemiological study was carried out in a sample size of 315 children. We used a random sampling technique that included 150 children with hearing impairment and 165 without hearing impairment. All subjects were submitted to a clinical examination. The parents/legal guardians were asked to complete a questionnaire regarding the deleterious habits of their children. Results The data collected indicated a higher prevalence of deleterious oral habits among children with hearing impairment: 53.3% as opposed to 40.6% among children without hearing impairment. There was a higher incidence of malocclusion in children with hearing impairment (79.3%) compared to children without hearing impairment (57%). Conclusions This study highlighted the need to establish protocols for preventive orthodontic treatment at an early age, in order to reduce the deleterious oral habits and prevent malocclusion. Dental institutions/clinicians need to implement oral care programs including proper oral education aiming to promote oral health. PMID:26609277

  5. Prevalence of Hearing Impairment in High Risk Infants.

    PubMed

    Vashistha, Ishika; Aseri, Yogesh; Singh, B K; Verma, P C

    2016-06-01

    Hearing impairment is prevalent in the general population, early intervention facilitates proper development. The aim of this study was to establish the prevalence of hearing impairment in high-risk infants born between 2013 and 2014. 100 newborns were evaluated using evoked otoacoustic emissions and distortion produce and auditory behavior. Tests were reported if the results were altered. If altered results persisted, the child was referred for impedance testing and when necessary for medical evaluation. Infants referred for BOA and OAE undergone Brainstem auditory evoked potential testing. Of 100 children, 85 children have hearing within normal limits. Hearing impairment was found in 15 out of which 7 had unilateral hearing loss and 8 had bilateral hearing loss. The high prevalence of hearing impairment in this population underlines the importance of early audiological testing. PMID:27340640

  6. Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain.

    PubMed

    Makishima, Tomoko; Madeo, Anne C; Brewer, Carmen C; Zalewski, Christopher K; Butman, John A; Sachdev, Vandana; Arai, Andrew E; Holbrook, Brenda M; Rosing, Douglas R; Griffith, Andrew J

    2007-07-15

    Dominant, truncating mutations of eyes absent 4 (EYA4) on chromosome 6q23 can cause either nonsyndromic hearing loss DFNA10 or hearing loss with dilated cardiomyopathy (DCM). It has been proposed that truncations of the C-terminal Eya domain cause DFNA10 whereas upstream truncations of the N-terminal variable region cause hearing loss with DCM. Here we report an extended family co-segregating autosomal dominant, postlingual-onset, progressive, sensorineural hearing loss (SNHL) with a novel frameshift mutation, 1,490insAA, of EYA4. The 1,490insAA allele is predicted to encode a truncated protein with an intact N-terminal variable region, but lacking the entire C-terminal Eya domain. Clinical studies including electrocardiography, echocardiography, and magnetic resonance imaging (MRI) of the heart in nine affected family members revealed no DCM or associated abnormalities and confirmed their nonsyndromic phenotype. These are the first definitive cardiac evaluations of DFNA10 hearing loss to support a correlation of EYA4 mutation position with the presence or absence of DCM. These results will facilitate the counseling of patients with these phenotypes and EYA4 mutations. PMID:17567890

  7. New polymorphic mtDNA restriction site in the 12S rRNA gene detected in Tunisian patients with non-syndromic hearing loss

    SciTech Connect

    Mkaouar-Rebai, Emna Tlili, Abdelaziz; Masmoudi, Saber; Charfeddine, Ilhem; Fakhfakh, Faiza

    2008-05-09

    The 12S rRNA gene was shown to be a hot spot for aminoglycoside-induced and non-syndromic hearing loss since several deafness-associated mtDNA mutations were identified in this gene. Among them, we distinguished the A1555G, the C1494T and the T1095C mutations and C-insertion or deletion at position 961. One hundred Tunisian patients with non-syndromic hearing loss and 100 hearing individuals were analysed in this study. A PCR-RFLP analysis with HaeIII restriction enzyme showed the presence of the A1555G mutation in the 12S rRNA gene in only one out of the 100 patients. In addition, PCR-RFLP and radioactive PCR revealed the presence of a new HaeIII polymorphic restriction site in the same gene of 12S rRNA site in 4 patients with non-syndromic hearing loss. UVIDOC-008-XD analyses showed the presence of this new polymorphic restriction site with a variable heteroplasmic rates at position +1517 of the human mitochondrial genome. On the other hand, direct sequencing of the entire mitochondrial 12S rRNA gene in the 100 patients and in 100 hearing individuals revealed the presence of the A750G and A1438G polymorphisms and the absence of the C1494T, T1095C and 961insC mutations in all the tested individuals. Sequencing of the whole mitochondrial genome in the 4 patients showing the new HaeIII polymorphic restriction site revealed only the presence of the A8860G transition in the MT-ATP6 gene and the A4769G polymorphism in the ND2 gene.

  8. Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment

    SciTech Connect

    Sousa de Moraes, Vanessa Cristine; Alexandrino, Fabiana; Andrade, Paula Baloni; Camara, Marilia Fontenele; Sartorato, Edi Lucia

    2009-04-03

    Hearing impairment is the most prevalent sensorial deficit in the general population. Congenital deafness occurs in about 1 in 1000 live births, of which approximately 50% has hereditary cause in development countries. Non-syndromic deafness can be caused by mutations in both nuclear and mitochondrial genes. Mutations in mtDNA have been associated with aminoglycoside-induced and non-syndromic deafness in many families worldwide. However, the nuclear background influences the phenotypic expression of these pathogenic mutations. Indeed, it has been proposed that nuclear modifier genes modulate the phenotypic manifestation of the mitochondrial A1555G mutation in the MTRNR1 gene. The both putative nuclear modifiers genes TRMU and MTO1 encoding a highly conserved mitochondrial related to tRNA modification. It has been hypothesizes that human TRMU and also MTO1 nuclear genes may modulate the phenotypic manifestation of deafness-associated mitochondrial mutations. The aim of this work was to elucidate the contribution of mitochondrial mutations, nuclear modifier genes mutations and aminoglycoside exposure in the deafness phenotype. Our findings suggest that the genetic background of individuals may play an important role in the pathogenesis of deafness-associated with mitochondrial mutation and aminoglycoside-induced.

  9. Videodisc: An Instructional Tool for the Hearing Impaired.

    ERIC Educational Resources Information Center

    Propp, George; And Others

    The strong potential of videodisc technology for improving the education of the hearing impaired is described in this report on the Media Development Project for the Hearing Impaired (MDPHI) at the University of Nebraska. The topics covered include: (1) the history of the use of technology in deaf education; (2) the history of videodiscs and their…

  10. 38 CFR 3.385 - Disability due to impaired hearing.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 1 2013-07-01 2013-07-01 false Disability due to... Considerations Relative to Specific Diseases § 3.385 Disability due to impaired hearing. For the purposes of applying the laws administered by VA, impaired hearing will be considered to be a disability when...

  11. 38 CFR 3.385 - Disability due to impaired hearing.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 1 2014-07-01 2014-07-01 false Disability due to... Considerations Relative to Specific Diseases § 3.385 Disability due to impaired hearing. For the purposes of applying the laws administered by VA, impaired hearing will be considered to be a disability when...

  12. 38 CFR 3.385 - Disability due to impaired hearing.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 1 2012-07-01 2012-07-01 false Disability due to... Considerations Relative to Specific Diseases § 3.385 Disability due to impaired hearing. For the purposes of applying the laws administered by VA, impaired hearing will be considered to be a disability when...

  13. Speech Rates of Turkish Prelingually Hearing-Impaired Children

    ERIC Educational Resources Information Center

    Girgin, M. Cem

    2008-01-01

    The aim of training children with hearing impairment in the auditory oral approach is to develop good speaking abilities. However, children with profound hearing-impairment show a wide range of spoken language abilities, some having highly intelligible speech while others have unintelligible speech. This is due to errors in speech production.…

  14. Setting of Classroom Environments for Hearing Impaired Children

    ERIC Educational Resources Information Center

    Turan, Zerrin

    2007-01-01

    This paper aims to explain effects of acoustical environments in sound perception of hearing impaired people. Important aspects of sound and hearing impairment are explained. Detrimental factors in acoustic conditions for speech perception are mentioned. Necessary acoustic treatment in classrooms and use of FM systems to eliminate these factors…

  15. Evaluating Students with Hearing Impairment. Technical Assistance Document.

    ERIC Educational Resources Information Center

    New Jersey State Dept. of Education, Trenton. Div. of Special Education.

    This guide, written to assist child study teams in New Jersey, reviews legal and other requirements in evaluating students with hearing impairments. Implications of hearing impairment for the evaluation process include its impact on syntactic, semantic, and pragmatic aspects of language; environmental interaction; and social interaction.…

  16. Listening to the Community of the Hearing-Impaired.

    ERIC Educational Resources Information Center

    McCann, Jessica

    1993-01-01

    Notes that, to bring hearing-impaired individuals into the work force, employers must first learn something about their well-defined culture. Notes need to understand difference between being deaf and hearing impaired, distinct culture and history of deaf Americans, and how to keep channels of communication open. Discusses counseling deaf students…

  17. Physical Education, Recreation and Sports for Individuals with Hearing Impairments.

    ERIC Educational Resources Information Center

    American Alliance for Health, Physical Education, and Recreation, Washington, DC.

    Reviewed in the third of seven related documents are resources and research on physical education, recreation, and sports for hearing impaired persons. An annotated list of resources is supplied for each of the following topics: integration of the hearing impaired into regular physical education and recreation programs, physical education and…

  18. Issues in the Education of Multihandicapped Hearing-Impaired Children.

    ERIC Educational Resources Information Center

    Jensema, Corinne K., Ed.

    1982-01-01

    This issue of "Directions," a publication for updating academic, professional, career, and research activities, contains thirteen articles focusing on the education of hearing impaired children with additional disabilities. The following authors and titles are represented: "Multihandicapped Hearing-Impaired Students--Problems in Identification and…

  19. 38 CFR 3.385 - Disability due to impaired hearing.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 1 2010-07-01 2010-07-01 false Disability due to... Considerations Relative to Specific Diseases § 3.385 Disability due to impaired hearing. For the purposes of applying the laws administered by VA, impaired hearing will be considered to be a disability when...

  20. Hearing Aids and Hearing Impaired Students in Rural Schools.

    ERIC Educational Resources Information Center

    Woodford, Charles

    This paper describes functions of the components of hearing aids and provides a detailed procedure to detect hearing aid dysfunctions. The most common type of hearing aids for school children are the behind the ear type. Various hearing aid components change sound into an electrical signal, which is amplified and adjusted by a volume control. The…

  1. Visual aid for the hearing impaired

    NASA Astrophysics Data System (ADS)

    Jhabvala, Murzban D.; Lin, Hung C.

    1991-07-01

    A multichannel electronic visual aid device which is able to signal to the user whether sound is coming from the left or right, front or back, or both is presented. For the plurality of channels, which may operate in pairs, the sound is picked up by a respective microphone and amplified and rectified into a DC voltage. The DC voltage is next fed to an analog to digital converter and then to a digital encoder. The binary code from the encoder is coupled into a logic circuit where the binary code is decoded to proved a plurality of output levels which are used to drive an indicator which, in turn, provides a visual indication of the sound level received. The binary codes for each pair of channels are also fed into a digital comparator. The output of the comparator is used to enable the logic circuits of the two channels such that if, for example, the signal coming from the right is louder than that coming from the left, the output of the logic unit of the right channel will be enabled and the corresponding indicator activated, indicating the sound source on the right. An indication of the loudness is also provided. One embodiment of the invention may be carried by the hearing impaired or deaf, as a system which is embedded into eye glasses or a cap. Another embodiment of the invention may be integrated with a vehicle to give a hearing impaired or deaf driver a warning, with a directional indication, that an emergency vehicle is in the vicinity. In this second embodiment, the emergency vehicle transmits a radio frequency signal which would be used as an enabling signal for the visual aid device to avoid false alarms from traffic and other sound sources in the vicinity of the driver's vehicle.

  2. Reported Causes of Hearing Loss for Hearing Impaired Students; United States 1970-71.

    ERIC Educational Resources Information Center

    Gentile, Augustine; Rambin, J. Bentley

    Reported are causes of hearing loss for 41,109 hearing impaired students enrolled in 555 special educational programs as part of a national annual survey during the 1970-71 school year. Data is provided on the relationship between hearing loss etiology and the following variables: age and sex of students, additional handicapping conditions, family…

  3. Inflectional morphology in German hearing-impaired children.

    PubMed

    Penke, Martina; Wimmer, Eva; Hennies, Johannes; Hess, Markus; Rothweiler, Monika

    2016-01-01

    Despite modern hearing aids, children with hearing impairment often have only restricted access to spoken language input during the 'critical' years for language acquisition. Specifically, a sensorineural hearing impairment affects the perception of voiceless coronal consonants which realize verbal affixes in German. The aim of this study is to explore if German hearing-impaired children have problems in producing and/or acquiring inflectional suffixes expressed by such phonemes. The findings of two experiments (an elicitation task and a picture-naming task) conducted with a group of hearing-impaired monolingual German children (age 3-4 years) demonstrate that difficulties in perceiving specific phonemes relate to the avoidance of these same sounds in speech production independent of the grammatical function these phonemes have. PMID:25175166

  4. Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss

    PubMed Central

    Lu, Jianxin; Li, Zhiyuan; Zhu, Yi; Yang, Aifen; Li, Ronghua; Zheng, Jing; Cai, Qin; Peng, Guanghua; Zheng, Wuwei; Tang, Xiaowen; Chen, Bobei; Chen, Jianfu; Liao, Zhisu; Yang, Li; Li, Yongyan; You, Junyan; Ding, Yu; Yu, Hong; Wang, Jindan; Sun, Dongmei; Zhao, Jianyue; Xue, Ling; Wang, Jieying; Guan, Min-Xin

    2010-01-01

    In this report, we investigated the frequency and spectrum of mitochondrial 12S rRNA variants in a large cohort of 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss. Mutational analysis of 12S rRNA gene in these subjects identified 68 (54 known and 14 novel) variants. The frequencies of known 1555A>G and 1494C>T mutations were 3.96% and 0.18%, respectively, in this cohort with nonsyndromic and aminoglycoside-induced hearing loss. Prevalence of other putative deafness-associated mutation at positions 1095 and 961 were 0.61% and 1.7% in this cohort, respectively. Furthermore, the 745A>G, 792C>T, 801A>G, 839A>G, 856A>G, 1027A>G, 1192C>T, 1192C>A, 1310C>T, 1331A>G, 1374A>G and 1452T>C variants conferred increased sensitivity to ototoxic drugs or nonsyndromic deafness as they were absent in 449 Chinese controls and localized at highly conserved nucleotides of this rRNA. However, other variants appeared to be polymorphisms. Moreover, 65 Chinese subjects carrying the 1555A>G mutation exhibited bilateral and sensorineural hearing loss. A wide range of severity, age-of-onset and audiometric configuration was observed among these subjects. In particular, the sloping and flat shaped patterns were the common audiograms in individuals carrying the 1555A>G mutation. The phenotypic variability in subjects carrying these 12S rRNA mutations indicated the involvement of nuclear modifier genes, mitochondrial haplotypes, epigenetic and environmental factors in the phenotypic manifestation of these mutations. Therefore, our data demonstrated that mitochondrial 12S rRNA is the hot spot for mutations associated with aminoglycoside ototoxicity. PMID:20100600

  5. Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.

    PubMed

    Ammar-Khodja, Fatima; Bonnet, Crystel; Dahmani, Malika; Ouhab, Sofiane; Lefèvre, Gaelle M; Ibrahim, Hassina; Hardelin, Jean-Pierre; Weil, Dominique; Louha, Malek; Petit, Christine

    2015-05-01

    The genetic heterogeneity of congenital hearing disorders makes molecular diagnosis expensive and time-consuming using conventional techniques such as Sanger sequencing of DNA. In order to design an appropriate strategy of molecular diagnosis in the Algerian population, we explored the diversity of the involved mutations by studying 65 families affected by autosomal recessive forms of nonsyndromic hearing impairment (DFNB forms), which are the most prevalent early onset forms. We first carried out a systematic screening for mutations in GJB2 and the recurrent p.(Arg34*) mutation in TMC1, which were found in 31 (47.7%) families and 1 (1.5%) family, respectively. We then performed whole exome sequencing in nine of the remaining families, and identified the causative mutations in all the patients analyzed, either in the homozygous state (eight families) or in the compound heterozygous state (one family): (c.709C>T: p.(Arg237*)) and (c.2122C>T: p.(Arg708*)) in OTOF, (c.1334T>G: p.(Leu445Trp)) in SLC26A4, (c.764T>A: p.(Met255Lys)) in GIPC3, (c.518T>A: p.(Cys173Ser)) in LHFPL5, (c.5336T>C: p.(Leu1779Pro)) in MYO15A, (c.1807G>T: p.(Val603Phe)) in OTOA, (c.6080dup: p.(Asn2027Lys*9)) in PTPRQ, and (c.6017del: p.(Gly2006Alafs*13); c.7188_7189ins14: p.(Val2397Leufs*2)) in GPR98. Notably, 7 of these 10 mutations affecting 8 different genes had not been reported previously. These results highlight for the first time the genetic heterogeneity of the early onset forms of nonsyndromic deafness in Algerian families. PMID:26029705

  6. Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing

    PubMed Central

    Ammar-Khodja, Fatima; Bonnet, Crystel; Dahmani, Malika; Ouhab, Sofiane; Lefèvre, Gaelle M; Ibrahim, Hassina; Hardelin, Jean-Pierre; Weil, Dominique; Louha, Malek; Petit, Christine

    2015-01-01

    The genetic heterogeneity of congenital hearing disorders makes molecular diagnosis expensive and time-consuming using conventional techniques such as Sanger sequencing of DNA. In order to design an appropriate strategy of molecular diagnosis in the Algerian population, we explored the diversity of the involved mutations by studying 65 families affected by autosomal recessive forms of nonsyndromic hearing impairment (DFNB forms), which are the most prevalent early onset forms. We first carried out a systematic screening for mutations in GJB2 and the recurrent p.(Arg34*) mutation in TMC1, which were found in 31 (47.7%) families and 1 (1.5%) family, respectively. We then performed whole exome sequencing in nine of the remaining families, and identified the causative mutations in all the patients analyzed, either in the homozygous state (eight families) or in the compound heterozygous state (one family): (c.709C>T: p.(Arg237*)) and (c.2122C>T: p.(Arg708*)) in OTOF, (c.1334T>G: p.(Leu445Trp)) in SLC26A4, (c.764T>A: p.(Met255Lys)) in GIPC3, (c.518T>A: p.(Cys173Ser)) in LHFPL5, (c.5336T>C: p.(Leu1779Pro)) in MYO15A, (c.1807G>T: p.(Val603Phe)) in OTOA, (c.6080dup: p.(Asn2027Lys*9)) in PTPRQ, and (c.6017del: p.(Gly2006Alafs*13); c.7188_7189ins14: p.(Val2397Leufs*2)) in GPR98. Notably, 7 of these 10 mutations affecting 8 different genes had not been reported previously. These results highlight for the first time the genetic heterogeneity of the early onset forms of nonsyndromic deafness in Algerian families. PMID:26029705

  7. Characteristics of Hearing Impaired Students by Hearing Status. United States: 1970-71.

    ERIC Educational Resources Information Center

    Rawlings, Brenda; And Others

    Presented were data from the Annual Survey of Hearing Impaired Children on selected characteristics of approximately 41,000 hearing impaired students who were enrolled in special educational programs during the 1970-1971 school year. Included was information on sex, age, additional handicapping conditions, ages of onset and of discovery of the…

  8. [The new regulations for diagnostics of occupational hearing impairment].

    PubMed

    Pankova, V B

    2014-01-01

    The author presents information about the new regulations for diagnostics of occupational hearing impairment included in the technical documentation of the Russian Ministry of Health and Social Development and Ministry of Health governing provision of medical assistance to the subjects suffering from occupational hearing impairment and establishing the new rules for the compulsory prophylactic examination (preliminary and periodic) of the candidates for employment in the noisy environment. In addition, the newly-established criteria for the estimation of hearing impairment and occupational fitness of the subjects presenting with this condition are considered. The advantages of the new regulations are discussed along with their drawbacks that require further correction. PMID:24781171

  9. Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.

    PubMed

    Santos-Cortez, Regie Lyn P; Faridi, Rabia; Rehman, Atteeq U; Lee, Kwanghyuk; Ansar, Muhammad; Wang, Xin; Morell, Robert J; Isaacson, Rivka; Belyantseva, Inna A; Dai, Hang; Acharya, Anushree; Qaiser, Tanveer A; Muhammad, Dost; Ali, Rana Amjad; Shams, Sulaiman; Hassan, Muhammad Jawad; Shahzad, Shaheen; Raza, Syed Irfan; Bashir, Zil-E-Huma; Smith, Joshua D; Nickerson, Deborah A; Bamshad, Michael J; Riazuddin, Sheikh; Ahmad, Wasim; Friedman, Thomas B; Leal, Suzanne M

    2016-02-01

    The sphingosine-1-phosphate receptors (S1PRs) are a well-studied class of transmembrane G protein-coupled sphingolipid receptors that mediate multiple cellular processes. However, S1PRs have not been previously reported to be involved in the genetic etiology of human traits. S1PR2 lies within the autosomal-recessive nonsyndromic hearing impairment (ARNSHI) locus DFNB68 on 19p13.2. From exome sequence data we identified two pathogenic S1PR2 variants, c.323G>C (p.Arg108Pro) and c.419A>G (p.Tyr140Cys). Each of these variants co-segregates with congenital profound hearing impairment in consanguineous Pakistani families with maximum LOD scores of 6.4 for family DEM4154 and 3.3 for family PKDF1400. Neither S1PR2 missense variant was reported among ∼120,000 chromosomes in the Exome Aggregation Consortium database, in 76 unrelated Pakistani exomes, or in 720 Pakistani control chromosomes. Both DNA variants affect highly conserved residues of S1PR2 and are predicted to be damaging by multiple bioinformatics tools. Molecular modeling predicts that these variants affect binding of sphingosine-1-phosphate (p.Arg108Pro) and G protein docking (p.Tyr140Cys). In the previously reported S1pr2(-/-) mice, stria vascularis abnormalities, organ of Corti degeneration, and profound hearing loss were observed. Additionally, hair cell defects were seen in both knockout mice and morphant zebrafish. Family PKDF1400 presents with ARNSHI, which is consistent with the lack of gross malformations in S1pr2(-/-) mice, whereas family DEM4154 has lower limb malformations in addition to hearing loss. Our findings suggest the possibility of developing therapies against hair cell damage (e.g., from ototoxic drugs) through targeted stimulation of S1PR2. PMID:26805784

  10. Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

    PubMed Central

    Santos-Cortez, Regie Lyn P.; Faridi, Rabia; Rehman, Atteeq U.; Lee, Kwanghyuk; Ansar, Muhammad; Wang, Xin; Morell, Robert J.; Isaacson, Rivka; Belyantseva, Inna A.; Dai, Hang; Acharya, Anushree; Qaiser, Tanveer A.; Muhammad, Dost; Ali, Rana Amjad; Shams, Sulaiman; Hassan, Muhammad Jawad; Shahzad, Shaheen; Raza, Syed Irfan; Bashir, Zil-e-Huma; Smith, Joshua D.; Nickerson, Deborah A.; Bamshad, Michael J.; Riazuddin, Sheikh; Ahmad, Wasim; Friedman, Thomas B.; Leal, Suzanne M.

    2016-01-01

    The sphingosine-1-phosphate receptors (S1PRs) are a well-studied class of transmembrane G protein-coupled sphingolipid receptors that mediate multiple cellular processes. However, S1PRs have not been previously reported to be involved in the genetic etiology of human traits. S1PR2 lies within the autosomal-recessive nonsyndromic hearing impairment (ARNSHI) locus DFNB68 on 19p13.2. From exome sequence data we identified two pathogenic S1PR2 variants, c.323G>C (p.Arg108Pro) and c.419A>G (p.Tyr140Cys). Each of these variants co-segregates with congenital profound hearing impairment in consanguineous Pakistani families with maximum LOD scores of 6.4 for family DEM4154 and 3.3 for family PKDF1400. Neither S1PR2 missense variant was reported among ∼120,000 chromosomes in the Exome Aggregation Consortium database, in 76 unrelated Pakistani exomes, or in 720 Pakistani control chromosomes. Both DNA variants affect highly conserved residues of S1PR2 and are predicted to be damaging by multiple bioinformatics tools. Molecular modeling predicts that these variants affect binding of sphingosine-1-phosphate (p.Arg108Pro) and G protein docking (p.Tyr140Cys). In the previously reported S1pr2−/− mice, stria vascularis abnormalities, organ of Corti degeneration, and profound hearing loss were observed. Additionally, hair cell defects were seen in both knockout mice and morphant zebrafish. Family PKDF1400 presents with ARNSHI, which is consistent with the lack of gross malformations in S1pr2−/− mice, whereas family DEM4154 has lower limb malformations in addition to hearing loss. Our findings suggest the possibility of developing therapies against hair cell damage (e.g., from ototoxic drugs) through targeted stimulation of S1PR2. PMID:26805784

  11. Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

    PubMed Central

    Choi, Byung Yoon; Stewart, Andrew K.; Madeo, Anne C.; Pryor, Shannon P.; Lenhard, Suzanne; Kittles, Rick; Eisenman, David; Kim, H. Jeffrey; Niparko, John; Thomsen, James; Arnos, Kathleen S.; Nance, Walter E.; King, Kelly A.; Zalewski, Christopher K.; Brewer, Carmen C.; Shawker, Thomas; Reynolds, James C.; Butman, John A.; Karniski, Lawrence P.; Alper, Seth L.; Griffith, Andrew J.

    2008-01-01

    Hearing loss with enlargement of the vestibular aqueduct (EVA) can be associated with mutations of the SLC26A4 gene encoding pendrin, a transmembrane Cl−/I−/HCO3− exchanger. Pendrin’s critical transport substrates are thought to be I− in the thyroid gland and HCO3− in the inner ear. We previously reported that bi-allelic SLC26A4 mutations are associated with Pendred syndromic EVA whereas one or zero mutant alleles are associated with nonsyndromic EVA. One study proposed a correlation of nonsyndromic EVA with SLC26A4 alleles encoding pendrin with residual transport activity. Here we describe the phenotypes and SLC26A4 genotypes of 47 EVA patients ascertained since our first report of 39 patients. We sought to determine the pathogenic potential of each variant in our full cohort of 86 patients. We evaluated the trafficking of 11 missense pendrin products expressed in COS-7 cells. Products that targeted to the plasma membrane were expressed in Xenopus oocytes for measurement of anion exchange activity. p.F335L, p.C565Y, p.L597S, p.M775T, and p.R776C had Cl−/I− and Cl−/HCO3− exchange rate constants that ranged from 13 to 93% of wild type values. p.F335L, p.L597S, p.M775T and p.R776C are typically found as mono-allelic variants in nonsyndromic EVA. The high normal control carrier rate for p.L597S indicates it is a coincidentally detected nonpathogenic variant in this context. We observed moderate differential effects of hypo-functional variants upon exchange of HCO3− versus I− but their magnitude does not support a causal association with nonsyndromic EVA. However, these alleles could be pathogenic in trans configuration with a mutant allele in Pendred syndrome. PMID:19204907

  12. Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNA{sup Ser(UCN)} G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss

    SciTech Connect

    Yuan Huijun; Chen Jing; Liu Xin; Cheng Jing; Wang Xinjian; Yang Li; Yang Shuzhi; Cao Juyang; Kang Dongyang; Dai Pu; Zha, Suoqiang; Han Dongyi Young Wieyen Guan Minxin

    2007-10-12

    Mutations in mitochondrial DNA are one of the important causes of hearing loss. We report here the clinical, genetic, and molecular characterization of two Han Chinese pedigrees with maternally transmitted aminoglycoside-induced and nonsyndromic bilateral hearing loss. Clinical evaluation revealed the wide range of severity, age-at-onset, and audiometric configuration of hearing impairment in matrilineal relatives in these families. The penetrances of hearing loss in these pedigrees were 20% and 18%, when aminoglycoside-induced deafness was included. When the effect of aminoglycosides was excluded, the penetrances of hearing loss in these seven pedigrees were 10% and 15%. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the presence of the deafness-associated 12S rRNA C1494T and CO1/tRNA{sup Ser(UCN)} G7444A mutations. Their distinct sets of mtDNA polymorphism belonged to Eastern Asian haplogroup C4a1, while other previously identified six Chinese mitochondrial genomes harboring the C1494T mutation belong to haplogroups D5a2, D, R, and F1, respectively. This suggested that the C1494T or G7444A mutation occurred sporadically and multiplied through evolution of the mitochondrial DNA (mtDNA). The absence of functionally significant mutations in tRNA and rRNAs or secondary LHON mutations in their mtDNA suggest that these mtDNA haplogroup-specific variants may not play an important role in the phenotypic expression of the 12S rRNA C1494T and CO1/tRNA{sup Ser(UCN)} G7444A mutations in those Chinese families. However, aminoglycosides and other nuclear modifier genes play a modifying role in the phenotypic manifestation of the C1494T mutation in these Chinese families.

  13. Idiopathic Sudden Sensorineural Hearing Loss With Minimal Hearing Impairment

    PubMed Central

    Cho, Chin Saeng

    2015-01-01

    Objectives The aim of the study was to determine the characteristics of patients who did not match the audiometric criteria of idiopathic sudden sensorineural hearing loss (SSNHL) but complained of acute hearing loss. Methods By thorough medical chart reviews, historical cohort study was performed with consecutive data of 589 patients complaining of acute unilateral sensorineural hearing loss without identifiable causes between 2005 and 2013. Those patients demonstrating a hearing loss of at least 30 dB at three consecutive frequencies based on pure tone audiometry were classified as group I; the others were classified as group II. Patients' characteristics, final hearing, and hearing improvement rate (HIR) between the two groups were compared. Results Group II exhibited distinctive characteristics, including an early age of onset of the hearing loss (P<0.01), an absence of accompanying diabetes (P<0.01) and hypertension (P<0.01), and better unaffected hearing and final hearing compared with group I (P<0.001). However, the HIR of the patients in the two groups was not significantly different (P>0.05). Conclusion Patients who did not meet the audiological criteria of SSNHL exhibited distinctive characteristics compared to SSNHL patients. PMID:26622953

  14. Symptoms of Psychopathology in Hearing-Impaired Children

    PubMed Central

    Rieffe, Carolien; Soede, Wim; Briaire, Jeroen J.; Ketelaar, Lizet; Kouwenberg, Maartje; Frijns, Johan H. M.

    2015-01-01

    Objectives: Children with hearing loss are at risk of developing psychopathology, which has detrimental consequences for academic and psychosocial functioning later in life. Yet, the causes of the extensive variability in outcomes are not fully understood. Therefore, the authors wanted to objectify symptoms of psychopathology in children with cochlear implants or hearing aids, and in normally hearing peers, and to identify various risk and protective factors. Design: The large sample (mean age = 11.8 years) included three subgroups with comparable age, gender, socioeconomic status, and nonverbal intelligence: 57 with cochlear implants, 75 with conventional hearing aids, and 129 children who were normally hearing. Psychopathology was assessed by means of self- and parent-report measures. Results: Children with cochlear implants showed similar levels of symptoms of psychopathology when compared with their normally hearing peers, but children with hearing aids had significantly higher levels of psychopathological symptoms, while their hearing losses were approximately 43 dB lower than those of children with implants. Type of device was related with internalizing symptoms but not with externalizing symptoms. Furthermore, lower age and sufficient language and communication skills predicted less psychopathological symptoms. Conclusions: Children who are deaf or profoundly hearing impaired and have cochlear implants have lower levels of psychopathological symptoms than children with moderate or severe hearing loss who have hearing aids. Most likely, it is not the type of hearing device but rather the intensity of the rehabilitation program that can account for this difference. This outcome has major consequences for the next generation of children with hearing loss because children with profound hearing impairment still have the potential to have levels of psychopathology that are comparable to children who are normally hearing. PMID:25668391

  15. Education of the Hearing Impaired in India: A Survey.

    ERIC Educational Resources Information Center

    Anita, Shirin D.

    1979-01-01

    Data from ten schools for the hearing impaired in India in the areas of language instruction, preschool programs, parents' programs, and teacher preparation courses were gathered using a questionnaire. (PHR)

  16. The Learning Disabled, Hearing Impaired Students: Reality, Myth, or Overextension?

    ERIC Educational Resources Information Center

    Laughton, Joan

    1989-01-01

    This paper focuses on definitions, incidence, and characteristics of the multihandicapping condition known as "learning disabled, hearing impaired," in order to provide a means of identifying these children and determining whether or not they require different teaching strategies. (JDD)

  17. Social Integration of Hearing-Impaired Children: Fact or Fiction?

    ERIC Educational Resources Information Center

    Antia, Shirin

    1985-01-01

    Because research on social integration indicates that physical proximity to normal-hearing peers may result in neither social interaction nor social acceptance, teachers may need to help their hearing impaired students to specifically develop social communication skills. Teachers may also need to create opportunities for social interaction between…

  18. Social-Emotional Adjustment of Integrated Hearing Impaired Adolescents.

    ERIC Educational Resources Information Center

    Cole, Elizabeth B.; Shade, Maureen

    1985-01-01

    Social-emotional adjustment patterns of eight mainstreamed hearing impaired adolescents were compared with identical measures of a matched group of eight normally hearing adolescents. No statistically significant differences between the groups were found. Results presented a picture of social and emotional well-being similar for both the hearing…

  19. Hearing-Impaired Children under Age 6: 1977 and 1984.

    ERIC Educational Resources Information Center

    Schildroth, Arthur

    1986-01-01

    A review of annual survey data revealed that hearing impaired children under age 6 reported in 1984, when compared to those reported in 1977, tended to be younger; had higher percentages of heredity, meningitis, and prematurity as causes of hearing loss; and were more likely to have additional handicaps. (CL)

  20. Hearing Impaired Children's Performance on the Piagetian Liquid Horizontality Test.

    ERIC Educational Resources Information Center

    Murphy-Berman, Virginia; And Others

    A paper-and-pencil test consisting of a series of 24 sketches was administered to assess the performance of hearing impaired students aged 9-12 on a Piagetian horizontality task. This age range among hearing students is the developmental period during which comprehension of the principle of horizontality should begin to emerge, indicating ability…

  1. Correlates of Mental Health Disorders among Children with Hearing Impairments

    ERIC Educational Resources Information Center

    Fellinger, Johannes; Holzinger, Daniel; Sattel, Heribert; Laucht, Manfred; Goldberg, David

    2009-01-01

    Aim: The aim of this study was to elucidate factors related to the high rate of mental health disorders seen in those with impaired hearing, including social factors and audiological measures. Method: A representative sample of 95 pupils (47 females, 48 males; mean age 11y 1mo, range 6y 5mo to 16y, SD 2y 7mo) with hearing impairments of at least…

  2. Hearing Impairment in 2008: a compilation of available epidemiological studies.

    PubMed

    Pascolini, Donatella; Smith, Andrew

    2009-01-01

    A data bank of prevalence of hearing impairment for monitoring and implementation of programmes at national or global level and for the estimate of the global burden has been established. A systematic search was conducted of random-sample population-based studies of bilateral hearing impairment with clearly defined hearing threshold levels. Fifty-three studies from 31 countries from all WHO regions were found to meet the selection criteria. The prevalence of mild and disabling hearing impairment and other details from the studies are reported by WHO region. Although a large number of studies were found, only a small number among them were suitable surveys of prevalence of bilateral hearing impairment in the general population. Hearing impairment is a major disability that should be monitored at all ages: more population-based surveys are needed in all regions of the world. Utilization of the WHO protocol is recommended for collection and analysis of data in standard ways; especially recommended is the use of WHO threshold levels and to report the prevalence of bilateral impairment, both of which required to calculate burden. PMID:19444763

  3. Hearing impairment in Stickler syndrome: a systematic review

    PubMed Central

    2012-01-01

    Background Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance), and COL9A1 and COL9A2 (autosomal recessive inheritance). The auditory phenotype in Stickler syndrome is inconsistently reported. Therefore we performed a systematic review of the literature to give an up-to-date overview of hearing loss in Stickler syndrome, and correlated it with the genotype. Methods English-language literature was reviewed through searches of PubMed and Web of Science, in order to find relevant articles describing auditory features in Stickler patients, along with genotype. Prevalences of hearing loss are calculated and correlated with the different affected genes and type of mutation. Results 313 patients (102 families) individually described in 46 articles were included. Hearing loss was found in 62.9%, mostly mild to moderate when reported. Hearing impairment was predominantly sensorineural (67.8%). Conductive (14.1%) and mixed (18.1%) hearing loss was primarily found in young patients or patients with a palatal defect. Overall, mutations in COL11A1 (82.5%) and COL11A2 (94.1%) seem to be more frequently associated with hearing impairment than mutations in COL2A1 (52.2%). Conclusions Hearing impairment in patients with Stickler syndrome is common. Sensorineural hearing loss predominates, but also conductive hearing loss, especially in children and patients with a palatal defect, may occur. The distinct disease-causing collagen genes are associated with a different prevalence of hearing impairment, but still large phenotypic variation exists. Regular auditory follow-up is strongly advised, particularly because many Stickler patients are visually impaired. PMID:23110709

  4. Citizenship among a Sample of Hearing and Hearing Impaired Kindergarten's Children in Al-Riyadh Saudi Arabia "Comparative Study"

    ERIC Educational Resources Information Center

    Turkestani, Maryam Hafez; Bahatheg, Raja' Omar

    2015-01-01

    This study aimed at identifying statistically significant differences in citizenship between Saudi hearing and hearing impaired children. The study sample consisted of (167) hearing and (42) hearing impaired children at public kindergartens in Al-Riyadh city, (82) of whom were males and (127) were female children. Data was collected using…

  5. Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population

    PubMed Central

    Kabahuma, Rosemary I.; Ouyang, Xiaomei; Du, Li Lin; Yan, Denise; Hutchin, Tim; Ramsay, Michele; Penn, Claire; Liu, Xue-Zhong

    2015-01-01

    Objective The purpose of this study was to determine the prevalence of mutations in the GJB2 gene, the GJB6-D13S1830 deletion and the four common mitochondrial mutations (A1555G, A3243G, A7511C and A7445G) in a South African population. Methods Using single-strand conformation polymorphism and direct sequencing for screening GJB2 mutation; Multiplex PCR Amplification for GJB6-D13S1830 deletion and Restriction Fragment-Length Polymorphism (PCR-RFLP) analysis for the four common mtDNA mutations. We screened 182 hearing impaired students to determine the frequency of these mutations in the population. Results None of the reported disease causing mutations in GJB2 nor any novel pathogenic mutations in the coding region were detected, in contrast to the findings among Caucasians. The GJB6-D13S1830 deletion and the mitochondrial mutations were not observed in this group. Conclusion These results suggest that GJB2 may not be a significant deafness gene among sub-Saharan Africans, pointing to other unidentified genes as responsible for nonsyndromic hearing loss in these populations. PMID:21392827

  6. A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family

    PubMed Central

    Uehara, Daniela T; Freitas, Érika L; Alves, Leandro U; Mazzeu, Juliana F; Auricchio, Maria TBM; Tabith, Alfredo; Monteiro, Mário LR; Rosenberg, Carla; Mingroni-Netto, Regina C

    2015-01-01

    Here we describe a novel missense variant in the KCNQ4 gene and a private duplication at 7q31.1 partially involving two genes (IMMP2L and DOCK4). Both mutations segregated with nonsyndromic hearing loss in a family with three affected individuals. Initially, we identified the duplication in a screening of 132 unrelated cases of hearing loss with a multiplex ligation-dependent probe amplification panel of genes that are candidates to have a role in hearing, including IMMP2L. Mapping of the duplication by array-CGH revealed that the duplication also encompassed the 3′-end of DOCK4. Subsequently, whole-exome sequencing identified the breakpoint of the rearrangement, thereby confirming the existence of a fusion IMMP2L-DOCK4 gene. Transcription products of the fusion gene were identified, indicating that they escaped nonsense-mediated messenger RNA decay. A missense substitution (c.701A>T) in KCNQ4 (a gene at the DFNA2A locus) was also identified by whole-exome sequencing. Because the substitution is predicted to be probably damaging and KCNQ4 has been implicated in hearing loss, this mutation might explain the deafness in the affected individuals, although a hypothetical effect of the product of the fusion gene on hearing cannot be completely ruled out. PMID:27081546

  7. Hearing aid fitting in older persons with hearing impairment: the influence of cognitive function, age, and hearing loss on hearing aid benefit

    PubMed Central

    Meister, Hartmut; Rählmann, Sebastian; Walger, Martin; Margolf-Hackl, Sabine; Kießling, Jürgen

    2015-01-01

    Purpose To examine the association of cognitive function, age, and hearing loss with clinically assessed hearing aid benefit in older hearing-impaired persons. Methods Hearing aid benefit was assessed using objective measures regarding speech recognition in quiet and noisy environments as well as a subjective measure reflecting everyday situations captured using a standardized questionnaire. A broad range of general cognitive functions such as attention, memory, and intelligence were determined using different neuropsychological tests. Linear regression analyses were conducted with the outcome of the neuropsychological tests as well as age and hearing loss as independent variables and the benefit measures as dependent variables. Thirty experienced older hearing aid users with typical age-related hearing impairment participated. Results Most of the benefit measures revealed that the participants obtained significant improvement with their hearing aids. Regression models showed a significant relationship between a fluid intelligence measure and objective hearing aid benefit. When individual hearing thresholds were considered as an additional independent variable, hearing loss was the only significant contributor to the benefit models. Lower cognitive capacity – as determined by the fluid intelligence measure – was significantly associated with greater hearing loss. Subjective benefit could not be predicted by any of the variables considered. Conclusion The present study does not give evidence that hearing aid benefit is critically associated with cognitive function in experienced hearing aid users. However, it was found that lower fluid intelligence scores were related to higher hearing thresholds. Since greater hearing loss was associated with a greater objective benefit, these results strongly support the advice of using hearing aids regardless of age and cognitive function to counter hearing loss and the adverse effects of age-related hearing impairment. Still

  8. Early care in children with permanent hearing impairment.

    PubMed

    Giuntini, G; Forli, F; Nicastro, R; Ciabotti, A; Bruschini, L; Berrettini, S

    2016-02-01

    The implementation of regional protocols for newborn hearing screening and early audiologic diagnosis represent the first step of the entire diagnostic, rehabilitative and prosthetic programme for children with permanent hearing impairment. The maximum benefit of early diagnosis can indeed be obtained only by prompt rehabilitation aimed at fostering the child's communicative, linguistic and cognitive development. Within the framework of the CMM 2013 project of the Ministry of Health entitled "Preventing Communication Disorders: a Regional Program for Early Identification, Intervention and Care of Hearing Impaired Children", the problems concerning the promotion of the global development of children with PHI through an early rehabilitation project based on shared knowledge and scientific evidence. In this project, our specific aim was to define the features and modes of access to a precise and specialised rehabilitation project for the small hearing-impaired child within three months from audiologic diagnosis. Three main recommendations relative to assessment and rehabilitation aspects of early care emerged from the study. PMID:27054391

  9. Peculiarities of hearing impairment depending on interaction with acoustic stimuli

    PubMed Central

    Myshchenko, Iryna; Nazarenko, Vasyl; Kolganov, Anatoliy; Tereshchenko, Pavlo

    2015-01-01

    Aims: The functional state of the auditory analyzer of several operators groups was study. The objective of this study was to determine some characteristics of hearing impairment in relation with features of acoustic stimuli and informative significance of noise. Materials and Methods: 236 employees (middle age 35.4 ± 0.74 years) were divided into four groups according to features of noise perception at the workplaces. The levels of permanent shifts of acoustic thresholds were estimated using audiometric method. Statistical Analysis Used: Common statistical methods were used in research. Mean quantity and mean absolute errors were calculated. Statistical significance between operators' groups was calculated with 0.05 confidential intervals. Results: The peculiarities of hearing impairment in observed groups were different. Operators differentiating acoustic signals had peak of hearing impairment in the field of language frequencies, while the employees who work with noise background at the workplaces had maximal hearing threshold on the 4000 Hz frequency (P ≤ 0.05). Conclusions: Hearing impairment depends both on energy and human interaction with acoustic irritant. The distinctions in hearing impairment may be related with the necessity of recognizing of acoustic signals and their frequency characteristics. PMID:26957812

  10. Cortical Auditory Evoked Potentials in (Un)aided Normal-Hearing and Hearing-Impaired Adults.

    PubMed

    Van Dun, Bram; Kania, Anna; Dillon, Harvey

    2016-02-01

    Cortical auditory evoked potentials (CAEPs) are influenced by the characteristics of the stimulus, including level and hearing aid gain. Previous studies have measured CAEPs aided and unaided in individuals with normal hearing. There is a significant difference between providing amplification to a person with normal hearing and a person with hearing loss. This study investigated this difference and the effects of stimulus signal-to-noise ratio (SNR) and audibility on the CAEP amplitude in a population with hearing loss. Twelve normal-hearing participants and 12 participants with a hearing loss participated in this study. Three speech sounds-/m/, /g/, and /t/-were presented in the free field. Unaided stimuli were presented at 55, 65, and 75 dB sound pressure level (SPL) and aided stimuli at 55 dB SPL with three different gains in steps of 10 dB. CAEPs were recorded and their amplitudes analyzed. Stimulus SNRs and audibility were determined. No significant effect of stimulus level or hearing aid gain was found in normal hearers. Conversely, a significant effect was found in hearing-impaired individuals. Audibility of the signal, which in some cases is determined by the signal level relative to threshold and in other cases by the SNR, is the dominant factor explaining changes in CAEP amplitude. CAEPs can potentially be used to assess the effects of hearing aid gain in hearing-impaired users. PMID:27587919

  11. 38 CFR 4.86 - Exceptional patterns of hearing impairment.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 1 2010-07-01 2010-07-01 false Exceptional patterns of hearing impairment. 4.86 Section 4.86 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS SCHEDULE FOR RATING DISABILITIES Disability Ratings Impairment of Auditory Acuity §...

  12. 38 CFR 4.86 - Exceptional patterns of hearing impairment.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 1 2011-07-01 2011-07-01 false Exceptional patterns of hearing impairment. 4.86 Section 4.86 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS SCHEDULE FOR RATING DISABILITIES Disability Ratings Impairment of Auditory Acuity §...

  13. 38 CFR 4.85 - Evaluation of hearing impairment.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... Designation of Hearing Impairment Based on Puretone Threshold Average and Speech Discrimination,” is used to... language difficulties, inconsistent speech discrimination scores, etc., or when indicated under the... impairment. 4.85 Section 4.85 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS...

  14. 38 CFR 4.85 - Evaluation of hearing impairment.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... Designation of Hearing Impairment Based on Puretone Threshold Average and Speech Discrimination,” is used to... language difficulties, inconsistent speech discrimination scores, etc., or when indicated under the... impairment. 4.85 Section 4.85 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS...

  15. 38 CFR 4.85 - Evaluation of hearing impairment.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... Designation of Hearing Impairment Based on Puretone Threshold Average and Speech Discrimination,” is used to... language difficulties, inconsistent speech discrimination scores, etc., or when indicated under the... impairment. 4.85 Section 4.85 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS...

  16. 38 CFR 4.85 - Evaluation of hearing impairment.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... Designation of Hearing Impairment Based on Puretone Threshold Average and Speech Discrimination,” is used to... language difficulties, inconsistent speech discrimination scores, etc., or when indicated under the... impairment. 4.85 Section 4.85 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS...

  17. Binaural Loudness Summation in the Hearing Impaired.

    ERIC Educational Resources Information Center

    Hawkins, David B.; And Others

    1987-01-01

    Binaural loudness summation was measured using three different paradigms with 10 normally hearing and 20 bilaterally symmetrical high-frequency sensorineural hearing loss subjects. Binaural summation increased with presentation level using the loudness matching procedure, with values in the 6-10 dB range. Summation decreased with level using the…

  18. Broadband Auditory Stream Segregation by Hearing-Impaired and Normal-Hearing Listeners

    ERIC Educational Resources Information Center

    Valentine, Susie; Lentz, Jennifer J.

    2008-01-01

    Purpose: To investigate the effects of hearing loss on auditory stream segregation of broadband inharmonic sounds. Method: Auditory stream segregation by listeners with normal and impaired hearing was measured for 6-component inharmonic sounds ("A" and "B") using objective and subjective methods. Components in the A stimuli ranged between 1000 and…

  19. The Perception and Decoding of Expressive Emotional Information by Hearing and Hearing-Impaired Children.

    ERIC Educational Resources Information Center

    Sanders, Gina

    1985-01-01

    Hearing and hearing-impaired children between ages 4.5 to 15.5 years in England and Belgium were invited to abstract the concept of emotion from photographs and line drawings of facial expressions and body postures. A further experiment isloated the element of context in the task of decoding expression of emotion, resulting in comparatively…

  20. Vowel Formant Values in Hearing and Hearing-Impaired Children: A Discriminant Analysis

    ERIC Educational Resources Information Center

    Ozbic, Martina; Kogovsek, Damjana

    2010-01-01

    Hearing-impaired speakers show changes in vowel production and formant pitch and variability, as well as more cases of overlapping between vowels and more restricted formant space, than hearing speakers; consequently their speech is less intelligible. The purposes of this paper were to determine the differences in vowel formant values between 32…

  1. National Strategic Research Plan for Hearing and Hearing Impairment and Voice and Voice Disorders.

    ERIC Educational Resources Information Center

    National Inst. on Deafness and Other Communications Disorders, Bethesda, MD.

    This monograph presents an update to the strategic plan of the National Institute on Deafness and Other Communication Disorders (NIDCD), focusing on recent accomplishments, program goals, strategies, and priorities in research opportunities in the areas of hearing/hearing impairment and voice/voice disorders. Specifically considered for the…

  2. Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India.

    PubMed

    Adhikary, Bidisha; Ghosh, Sudakshina; Paul, Silpita; Bankura, Biswabandhu; Pattanayak, Arup Kumar; Biswas, Subhradev; Maity, Biswanath; Das, Madhusudan

    2015-12-01

    Genetically caused nonsyndromic hearing loss is highly heterogeneous. Inspite of this large heterogeneity, mutations in the genes GJB2, GJB6 and SLC26A4 are major contributors. The mutation spectrum of these genes varies among different ethnic groups. Only a handful of studies focused on the altered genetic signature of these genes in different demographic regions of India but never focused on the eastern part of the country. Our study for the first time aimed to characterize the mutation profile of these genes in hearing loss patients of West Bengal state, India. Mutations in GJB2, GJB6 and SLC26A4 genes were screened by bidirectional sequencing from 215 congenital nonsyndromic hearing loss patients. Radiological diagnosis was performed in patients with SLC26A4 mutations by temporal bone CT scan. The study revealed that 4.65% and 6.97% patients had monoallelic and biallelic GJB2 mutations respectively. Six mutations were identified, p.W24X being the most frequent one accounting for 71.05% of the mutated alleles. Mutations in GJB6 including the previously identified deletion mutation (GJB6-D13S1830) were not identified in our study. Further, no patients harbored biallelic mutations in the SLC26A4 gene or the common inner ear malformation Enlarged Vestibular Aqueduct (EVA). The mutation profile of GJB2 in our study is distinct from other parts of India, suggesting that the mutation spectrum of this gene varies with ethnicity and geographical origin. The absence of GJB6 mutations and low frequency of SLC26A4 mutations suggest that additional genetic factors may also contribute to this disease. PMID:26188157

  3. Mutation Screening of Exons 7 and 13 of the TMC1 Gene in Autosomal Recessive Non-syndromic Hearing Loss (ARNSHL) in Iran

    PubMed Central

    Moradipour, Negar; Ghasemi-Dehkordi, Payam; Heibati, Fatemeh; Parchami-Barjui, Shahrbanuo; Abolhasani, Marziyeh; Rashki, Ahmad; Hashemzadeh-Chaleshtori, Morteza

    2016-01-01

    Background: Non-syndromic hearing loss (NSHL) is the most common birth defect and occurs in approximately 1/1,000 newborns. NSHL is a heterogeneous trait and can arise due to both genetic and environmental factors. Mutations of the transmembrane channel-like 1 (TMC1) gene cause non-syndromic deafness in humans and mice. Objectives: The aim of the present study was to investigate the association of TMC1 gene mutations of the locus DFNB7/11 in exons 7 and 13 in a cohort of 100 patients with hearing loss in Iran using polymerase chain reaction–single-stranded conformation polymorphism (PCR-SSCP), heteroduplex analysis (HA), and DNA sequencing. Patients and Methods: In this experimental study, the blood samples of 100 NSHL patients were collected from 10 provinces in Iran. These patients had a mean age of 16.5 ± 2.01 years and 74.15% of their parents had consanguinity. DNA was extracted from specimens and mutations of exons 7 and 13 of the TMC1 gene were investigated using PCR-SSCP. All samples were checked via HA reaction and suspected specimens with shift bands were subjected to DNA sequencing for investigation of any gene variation. Results: In this study, no mutation was found in the two exons of TMC1 gene. It was concluded from these results that mutations of the TMC1 gene’s special exons 7 and 13 have a low contribution in patients and are not great of clinical importance in these Iranian provinces. Conclusions: More studies are needed to investigate the relationship between other parts of this gene with hearing loss in different populations through the country. More research could clarify the role of this gene and its relation with deafness and provide essential information for the prevention and management of auditory disorders caused by genetic factors in the Iranian population. PMID:27247785

  4. Hearing impairment and vowel production. A comparison between normally hearing, hearing-aided and cochlear implanted Dutch children.

    PubMed

    Verhoeven, Jo; Hide, Oydis; De Maeyer, Sven; Gillis, San; Gillis, Steven

    2016-01-01

    This study investigated the acoustic characteristics of the Belgian Standard Dutch vowels in children with hearing impairment and in children with normal hearing. In a balanced experimental design, the 12 vowels of Belgian Standard Dutch were recorded in three groups of children: a group of children with normal hearing, a group with a conventional hearing aid and a group with a cochlear implant. The formants, the surface area of the vowel space and the acoustic differentiation between the vowels were determined. The analyses revealed that many of the vowels in hearing-impaired children showed a reduction of the formant values. This reduction was particularly significant with respect to F2. The size of the vowel space was significantly smaller in the hearing-impaired children. Finally, a smaller acoustic differentiation between the vowels was observed in children with hearing impairment. The results show that even after 5 years of device use, the acoustic characteristics of the vowels in hearing-assisted children remain significantly different as compared to their NH peers. PMID:26629749

  5. [Rehabilitative measures in hearing-impaired children].

    PubMed

    von Wedel, H; von Wedel, U C; Zorowka, P

    1991-12-01

    On the basis of certain fundamental data on the maturation processes of the central auditory pathways in early childhood the importance of early intervention with hearing aids is discussed and emphasized. Pathological hearing, that is acoustical deprivation in early childhood will influence the maturation process. Very often speech development is delayed if diagnosis and therapy or rehabilitation are not early enough. Anamnesis, early diagnosis and clinical differential diagnosis are required before a hearing aid can be fitted. Selection criteria and adjustment parameters are discussed, showing that the hearing aid fitting procedure must be embedded in a complex matrix of requirements related to the development of speech as well as to the cognitive, emotional and social development of the child. As a rule, finding and preparing the "best" hearing aids (binaural fitting is obligatory) for a child is a long and often difficult process, which can only be performed by specialists who are pedo-audiologists. After the binaural fitting of hearing aids an intensive hearing and speech education in close cooperation between parents, pedo-audiologist and teacher must support the whole development of the child. PMID:1770955

  6. 45 CFR 1308.11 - Eligibility criteria: Hearing impairment including deafness.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... fluctuating hearing loss caused by otitis media, allergies, or eardrum perforations and other outer or middle... hearing loss can include impaired listening skills, delayed language development, and...

  7. Auditory stroop effects in children with hearing impairment.

    PubMed

    Jerger, S; Stout, G; Kent, M; Albritton, E; Loiselle, L; Blondeau, R; Jorgenson, S

    1993-10-01

    The accurate perception of speech involves the processing of multidimensional information. The aim of this study was to determine the influence of the semantic dimension on the processing of the auditory dimension of speech by children with hearing impairment. The processing interactions characterizing the semantic and auditory dimensions were assessed with a pediatric auditory Stroop task. The subjects, 20 children with hearing impairment and 60 children with normal hearing, were instructed to attend selectively to the voice-gender of speech targets while ignoring the semantic content. The type of target was manipulated to represent conflicting, neutral, and congruent relations between dimensions (e.g., the male voice saying "Mommy," "ice cream," or "Daddy" respectively). The normal-hearing listeners could not ignore the irrelevant semantic content. Instead, reaction times were slower to the conflict targets (Stroop interference) and faster to the congruent targets (Stroop congruency). The subjects with hearing impairment showed prominent Stroop congruency, but minimal Stroop interference. Reduced Stroop interference was not associated with chronological age, a speed-accuracy tradeoff, a non-neutral baseline, or relatively poorer discriminability of the word input. The present results suggest that the voice-gender and semantic dimensions of speech were not processed independently by these children, either those with or those without hearing loss. However, the to-be-ignored semantic dimension exerted a less consistent influence on the processing of the voice-gender dimension in the presence of childhood hearing loss. The overall pattern of results suggests that speech processing by children with hearing impairment is carried out in a less stimulus-bound manner. PMID:8246474

  8. Recognition of sine wave modeled consonants by normal hearing and hearing-impaired individuals

    NASA Astrophysics Data System (ADS)

    Balachandran, Rupa

    Sine wave modeling is a parametric tool for representing the speech signal with a limited number of sine waves. It involves replacing the peaks of the speech spectrum with sine waves and discarding the rest of the lower amplitude components during synthesis. It has the potential to be used as a speech enhancement technique for hearing-impaired adults. The present study answers the following basic questions: (1) Are sine wave synthesized speech tokens more intelligible than natural speech tokens? (2) What is the effect of varying the number of sine waves on consonant recognition in quiet? (3) What is the effect of varying the number of sine waves on consonant recognition in noise? (4) How does sine wave modeling affect the transmission of speech feature in quiet and in noise? (5) Are there differences in recognition performance between normal hearing and hearing-impaired listeners? VCV syllables representing 20 consonants (/p/, /t/, /k/, /b/, /d/, /g/, /f/, /theta/, /s/, /∫/, /v/, /z/, /t∫/, /dy/, /j/, /w/, /r/, /l/, /m/, /n/) in three vowel contexts (/a/, /i/, /u/) were modeled with 4, 8, 12, and 16 sine waves. A consonant recognition task was performed in quiet, and in background noise (+10 dB and 0 dB SNR). Twenty hearing-impaired listeners and six normal hearing listeners were tested under headphones at their most comfortable listening level. The main findings were: (1) Recognition of unprocessed speech was better that of sine wave modeled speech. (2) Asymptotic performance was reached with 8 sine waves in quiet for both normal hearing and hearing-impaired listeners. (3) Consonant recognition performance in noise improved with increasing number of sine waves. (4) As the number of sine waves was decreased, place information was lost first, followed by manner, and finally voicing. (5) Hearing-impaired listeners made more errors then normal hearing listeners, but there were no differences in the error patterns made by both groups.

  9. [Niikawa-Kuroki (Kabuki) syndrome and hearing impairment].

    PubMed

    Lüerssen, K; Ptok, M

    2004-05-01

    The Niikawa-Kuroki syndrome is a rare syndrome characterized by multiple congenital anomalies, mental retardation, postnatal growth deficiency, dermatoglyphic abnormalities and a characteristic facial appearance. More than 100 cases of the syndrome have been described in Europe. Here we report a 10 year old girl with this syndrome. Recurrent infections of the middle ear as well as delayed motor and speech development were present. The physiognomy since early infancy showed a flat profil, long palpebral fissures, long eyelashes, high arched eyebrows, missing lateral incisors and persistent fetal pads on the fingers. The patient was referred to us because of hearing impairment. Her parents also described a delayed motor development, mental retardation and a language impairment. Audiometry demonstrated a pantonal hearing loss. Since children affected by this syndrome may also have a severe hearing impairment early testing is mandatory. PMID:15138652

  10. Hearing impairment prevention in developing countries: making things happen.

    PubMed

    Olusanya, B O

    2000-10-16

    It is estimated that at least two thirds of the world's population of persons with disabling hearing impairment reside in developing countries. Yet, little and slow progress have been reported in these countries towards tackling this problem principally on account of inadequate resources. The prospects for improvement remain uncertain. This paper re-examines the peculiar nature of hearing impairment prevention within the context of the existing health-care needs of most of these nations. It establishes that the failure to recognize the dynamics of the social change that underlie an effective national programme on hearing impairment prevention may, in itself, forestall a successful and sustainable outcome even when more resources become available. PMID:11035172

  11. Clinical aspects of an autosomal dominantly inherited hearing impairment linked to the DFNA60 locus on chromosome 2q23.1-2q23.3.

    PubMed

    van Beelen, E; Schraders, M; Huygen, P L M; Oostrik, J; Plantinga, R F; van Drunen, W; Collin, R W J; Kooper, D P; Pennings, R J E; Cremers, C W R J; Kremer, H; Kunst, H P M

    2013-06-01

    A total of 64 loci for autosomal dominant non-syndromic hearing impairment have been described, and the causative genes have been identified for 24 of these. The present study reports on the clinical characteristics of an autosomal dominantly inherited hearing impairment that is linked to a region within the DFNA60 locus located on chromosome 2 in q22.1-24.1. A pedigree spanning four generations was established with 13 affected individuals. Linkage analysis demonstrated that the locus extended over a 2.96 Mb region flanked by markers D2S2335 and D2S2275. The audiograms mainly showed a distinctive U-shaped configuration. Deterioration of hearing started at a wide age range, from 12 to 40 years. Cross-sectional analysis showed rapid progression of hearing impairment from mild to severe, between the ages of 40 and 60 years, a phenomenon that is also observed in DFNA9 patients. The results of the individual longitudinal analyses were generally in line with those obtained by the cross-sectional analysis. Speech recognition scores related to the level of hearing impairment (PTA1,2,4 kHz) appeared to be fairly similar to those of presbyacusis patients. It is speculated that hearing impairment starting in mid-life, as shown by DFNA60 patients, could play a role in the development of presbyacusis. Furthermore, speech recognition did not deteriorate appreciably before the sixth decade of life. We conclude that DFNA60 should be considered in hearing impaired patients who undergo a rapid progression in middle age and are negative for DFNA9. Furthermore, cochlear implantation resulted in good rehabilitation in two DFNA60 patients. PMID:23538131

  12. Follow-up of permanent hearing impairment in childhood.

    PubMed

    Della Volpe, A; De Lucia, A; Pastore, V; Bracci Laudiero, L; Buonissimo, I; Ricci, G

    2016-02-01

    Programmes for early childhood childhood hearing impairment identification allows to quickly start the appropriate hearing aid fitting and rehabilitation process; nevertheless, a large number of patients do not join the treatment program. The goal of this article is to present the results of a strategic review of the strengths, weaknesses, opportunities and threats connected with the audiologic/prosthetic/language follow-up process of children with bilateral permanent hearing impairment. Involving small children, the follow-up includes the involvement of specialised professionals of a multidisciplinary team and a complex and prolonged multi-faced management. Within the framework of the Italian Ministry of Health project CCM 2013 "Preventing Communication Disorders: a Regional Program for Early Identification, Intervention and Care of Hearing Impaired Children", the purpose of this analysis was to propose recommendations that can harmonise criteria for outcome evaluation and provide guidance on the most appropriate assessment methods to be used in the follow-up course of children with permanent hearing impairment. PMID:27054392

  13. A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60.

    PubMed

    Ben Said, Mariem; Grati, M'hamed; Ishimoto, Takahiro; Zou, Bing; Chakchouk, Imen; Ma, Qi; Yao, Qi; Hammami, Bouthaina; Yan, Denise; Mittal, Rahul; Nakamichi, Noritaka; Ghorbel, Abdelmonem; Neng, Lingling; Tekin, Mustafa; Shi, Xiao Rui; Kato, Yukio; Masmoudi, Saber; Lu, Zhongmin; Hmani, Mounira; Liu, Xuezhong

    2016-05-01

    The high prevalence/incidence of hearing loss (HL) in humans makes it the most common sensory defect. The majority of the cases are of genetic origin. Non-syndromic hereditary HL is extremely heterogeneous. Genetic approaches have been instrumental in deciphering genes that are crucial for auditory function. In this study, we first used NADf chip to exclude the implication of known North-African mutations in HL in a large consanguineous Tunisian family (FT13) affected by autosomal recessive non-syndromic HL (ARNSHL). We then performed genome-wide linkage analysis and assigned the deafness gene locus to ch:5q23.2-31.1, corresponding to the DFNB60 ARNSHL locus. Moreover, we performed whole exome sequencing on FT13 patient DNA and uncovered amino acid substitution p.Cys113Tyr in SLC22A4, a transporter of organic cations, cosegregating with HL in FT13 and therefore the cause of ARNSHL DFNB60. We also screened a cohort of small Tunisian HL families and uncovered an additional deaf proband of consanguineous parents that is homozygous for p.Cys113Tyr carried by the same microsatellite marker haplotype as in FT13, indicating that this mutation is ancestral. Using immunofluorescence, we found that Slc22a4 is expressed in stria vascularis (SV) endothelial cells of rodent cochlea and targets their apical plasma membrane. We also found Slc22a4 transcripts in our RNA-seq library from purified primary culture of mouse SV endothelial cells. Interestingly, p.Cys113Tyr mutation affects the trafficking of the transporter and severely alters ergothioneine uptake. We conclude that SLC22A4 is an organic cation transporter of the SV endothelium that is essential for hearing, and its mutation causes DFNB60 form of HL. PMID:27023905

  14. High-Level Psychophysical Tuning Curves: Forward Masking in Normal-Hearing and Hearing-Impaired Listeners.

    ERIC Educational Resources Information Center

    Nelson, David A.

    1991-01-01

    Forward-masked psychophysical tuning curves were obtained at multiple probe levels from 26 normal-hearing listeners and 24 ears of 21 hearing-impaired listeners with cochlear hearing loss. Results indicated that some cochlear hearing losses influence the sharp tuning capabilities usually associated with outer hair cell function. (Author/JDD)

  15. Balance assessment in hearing-impaired children.

    PubMed

    Walicka-Cupryś, Katarzyna; Przygoda, Łukasz; Czenczek, Ewelina; Truszczyńska, Aleksandra; Drzał-Grabiec, Justyna; Zbigniew, Trzaskoma; Tarnowski, Adam

    2014-11-01

    According to the scientific reports the postural stability is inseparably associated with hearing organ's correct functioning. The aim of the study was to evaluate the degree of disorders occurring in balance reactions in this group of children with profound hearing loss compared to their healthy peers. The study worked with a total of 228 children, including 65 who are deaf (DCH) and 163 subjects without any hearing deficits (CON) in the control group. Stabilometric measurements were performed with the use of a force distribution platform. The results indicate statistically significant differences in terms of one parameter (the total path length) recorded in the test with the eyes open and a whole range of parameters recorded when the subjects had their eyes closed (the width, height, and area of the ellipse, the total path length, and the horizontal and vertical sway). The study results showed better values of the static balance parameters in deaf children as compared to their peers without hearing disorders and the differences were particularly evident in the test with the subject's eyes closed. The results suggest significantly better processing of sensory stimuli in postural reactions particularly from propioception, and to a lesser extent, from the vision system observed in the subjects as compared to their peers in the control group. PMID:25077831

  16. Hearing-Impaired Children in Venezuela: 1985.

    ERIC Educational Resources Information Center

    Schildroth, Arthur; And Others

    1987-01-01

    The 1984-85 Venezuelan Survey of Deaf Children collected information on 804 deaf students between ages 3 and 14. Among findings were that 29% of the cases were caused by maternal rubella, that 36% had additional handicaps, and that meningitis was the most frequently reported after-birth cause of hearing losses. (Author/DB)

  17. The Parent Teaching Home: An Early Intervention Program for Hearing-Impaired Children

    ERIC Educational Resources Information Center

    McConnell, Freeman

    1974-01-01

    The Bill Wilkerson Hearing and Speech Center Program for hearing-impaired children emphasizes the value of detecting hearing impairment in infancy, followed by immediate intervention in the form of an intensive parent teaching program which stresses the maximization of residual hearing to enhance natural language acquisition. (Author/JA)

  18. Achieving effective hearing aid fitting within one month after identification of childhood permanent hearing impairment.

    PubMed

    Bastanza, G; Gallus, R; De Carlini, M; Picciotti, P M; Muzzi, E; Ciciriello, E; Orzan, E; Conti, G

    2016-02-01

    Diagnosis of child permanent hearing impairment (PHI) can be made with extreme timeliness compared to the past thanks to improvements in PHI identification through newborn hearing screening programmes. It now becomes essential to provide an effective amplification as quickly as possible in order to restore auditory function and favour speech and language development. The early fitting of hearing aids and possible later cochlear implantation indeed prompts the development of central auditory pathways, connections with secondary sensory brain areas, as well as with motor and articulatory cortex. The aim of this paper is to report the results of a strategic analysis that involves identification of strengths, weaknesses, opportunities and threats regarding the process of achieving early amplification in all cases of significant childhood PHI. The analysis is focused on the Italian situation and is part of the Italian Ministry of Health project CCM 2013 "Preventing Communication Disorders: a Regional Program for Early Identification, Intervention and Care of Hearing Impaired Children". PMID:27054389

  19. Register of Children with Impaired Vision and Hearing.

    ERIC Educational Resources Information Center

    Wagner, Elizabeth

    The register of children (under 20 years of age) with impaired vision and hearing provides the number of children in deaf blind programs, other educational programs, at home, and in institutions for the mentally handicapped for the academic year 1968-9. Additional information on the 777 handicapped children registered by the American Foundation…

  20. Hearing-Impaired Children in Black and Hispanic Families.

    ERIC Educational Resources Information Center

    Fischgrund, Joseph E.; And Others

    1987-01-01

    The article presents sociocultural information about Black and Hispanic families and the implications for intervention programs for parents of hearing-impaired minority children. Discussion addresses the importance of the extended family and community in providing care, differing belief systems about handicaps, and anxieties in adjusting to a new…

  1. Hearing Impaired (HI) Support Services and Caseload Prioritisation

    ERIC Educational Resources Information Center

    Rodd, Cathy; Young, Alys

    2009-01-01

    This study considers the process of prioritisation undertaken by Hearing Impaired (HI) Support Services in England in a context of change driven by early screening, early intervention and reform in children's services. The aim of prioritisation is to identify the relative needs of deaf children and their families fairly, transparently and…

  2. Soybean β-Conglycinin Prevents Age-Related Hearing Impairment

    PubMed Central

    Tanigawa, Tohru; Shibata, Rei; Kondo, Kazuhisa; Katahira, Nobuyuki; Kambara, Takahiro; Inoue, Yoko; Nonoyama, Hiroshi; Horibe, Yuichiro; Ueda, Hiromi; Murohara, Toyoaki

    2015-01-01

    Obesity-related complications are associated with the development of age-related hearing impairment. β-Conglycinin (β-CG), one of the main storage proteins in soy, offers multiple health benefits, including anti-obesity and anti-atherosclerotic effects. Here, to elucidate the potential therapeutic application of β-CG, we investigated the effect of β-CG on age-related hearing impairment. Male wild-type mice (age 6 months) were randomly divided into β-CG-fed and control groups. Six months later, the body weight was significantly lower in β-CG-fed mice than in the controls. Consumption of β-CG rescued the hearing impairment observed in control mice. Cochlear blood flow also increased in β-CG-fed mice, as did the expression of eNOS in the stria vascularis (SV), which protects vasculature. β-CG consumption also ameliorated oxidative status as assessed by 4-HNE staining. In the SV, lipofuscin granules of marginal cells and vacuolar degeneration of microvascular pericytes were decreased in β-CG-fed mice, as shown by transmission electron microscopy. β-CG consumption prevented loss of spiral ganglion cells and reduced the frequencies of lipofuscin granules, nuclear invaginations, and myelin vacuolation. Our observations indicate that β-CG ameliorates age-related hearing impairment by preserving cochlear blood flow and suppressing oxidative stress. PMID:26348726

  3. Microelectronic Technology and the Hearing Impaired: The Future. Keynote Address.

    ERIC Educational Resources Information Center

    Thorkildsen, Ron

    1985-01-01

    The potential of microelectronic technology for alleviating communication problems of hearing-impaired persons is discussed from a futuristic point of view. The need for computer literacy training is related to changing career opportunities. Computer literacy, artificial intelligence, and videodisc technology are described and related to training…

  4. Diagnosing a Learning Disability in a Hearing-Impaired Child.

    ERIC Educational Resources Information Center

    Plapinger, Donald; Sikora, Darryn

    1990-01-01

    This paper presents a case study that used an interdisciplinary diagnostic approach to determine whether a hearing-impaired nine-year-old child had a learning disability and to determine the type of disability. The assessment included medical examination, gross and fine motor skills, psychological functioning, mental processing and achievement,…

  5. Selected Research, Development and Organizational Needs of the Hearing Impaired.

    ERIC Educational Resources Information Center

    Garrett, Charles W., Ed.

    Identified are research, development, and organizational needs regarding sensory aids for the hearing impaired. Discussion of the present status of sensory aids focuses on acoustic and nonacoustic aids and points out that practical long-term utility has been extremely limited. Described are organizational and planning needs such as demographic…

  6. Basic Education Needs of Adults Who Are Hearing Impaired.

    ERIC Educational Resources Information Center

    Leigh, Gregory R.; And Others

    This study examined the extent to which people in Australia with impaired hearing were receiving some form of literacy assistance and whether requests for service were fulfilled by providers of Adult Literacy and Basic Education (ALBE) services. A questionnaire was sent to a sample of 71 providers. In addition, telephone interviews were conducted…

  7. 38 CFR 4.85 - Evaluation of hearing impairment.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... audiologist and must include a controlled speech discrimination test (Maryland CNC) and a puretone audiometry... Designation of Hearing Impairment Based on Puretone Threshold Average and Speech Discrimination,” is used to... percent of speech discrimination (horizontal rows) and the puretone threshold average (vertical...

  8. Auditory Threshold Variability with Severely Hearing-Impaired Preschool Children.

    ERIC Educational Resources Information Center

    Fulton, Robert T.

    1979-01-01

    Threshold variability across repeated measures (N=10) was observed at 250 and 1,000 Hz with five severely hearing-impaired preschool children. Results indicated that variability at 1,000 Hz was within a 10 dB range (except for one measure) across Ss, while variability at 250 Hz was substantially larger, even though false positive responses to…

  9. Final Consonant Generalization in Hearing Impaired Children's Articulation.

    ERIC Educational Resources Information Center

    McReynolds, Leija V.

    1984-01-01

    Within a multiple baseline across behaviors design, four hearing impaired children (six to 13 years old) who initially omitted final consonants in words were taught to produce final /k/ and /v/ in a contrast training procedure. Results showed that Ss generalized both final target sounds to a high degree in spontaneous and non-spontaneous contexts.…

  10. Cognitive and Communicative Development in Hearing-Impaired Preschool Children.

    ERIC Educational Resources Information Center

    Kricos, Patricia B.; Aungst, Holle L.

    1984-01-01

    Describes a study that determines if an interrelationship exists between cognitive level, gestural development, and spoken English development in five hearing-impaired preschool children. Results suggest that a deaf child's cognitive development may be related to his/her communicative ability, especially in terms of pragmatic-semantic…

  11. E-Learning Environment for Hearing Impaired Students

    ERIC Educational Resources Information Center

    Hashim, Hisyamuddin; Tasir, Zaidatun; Mohamad, Siti Khadijah

    2013-01-01

    The usage of technology within the educational department has become more vital by each year passing. One of the most popular technological approaches used is the e-learning environment. The usage of e-learning environment in education involves a wide range of types of students, and this includes the hearing impaired ones. Some adjustment or…

  12. A Family Involvement Model for Hearing-Impaired Infants.

    ERIC Educational Resources Information Center

    Fitzgerald, Mary Trabue; Fischer, Rebecca M.

    1987-01-01

    The Mama Lere Parent-Infant Training Program (Nashville, Tennessee) which serves hearing- and speech-impaired children focuses on family involvement and an intervention plan which includes four service delivery components: facilitation of child communicative competence; educational advocacy and team decision making; information exchange; and…

  13. Alternative Summer Educational Programs for Urban Hearing-Impaired Children.

    ERIC Educational Resources Information Center

    Goldfarb, Mark; Israelson, Jo

    The paper describes the summer programs offered by Kendall Demonstration Elementary School, a year-round day school for elementary level hearing impaired students in Washington, D.C. The programs are explained to be based on a three-point philosophy: (1) summer programs should be different from those of the rest of the year; (2) summer programs…

  14. Identification of Additional Learning Difficulties in Hearing-Impaired Children.

    ERIC Educational Resources Information Center

    Alpin, D. Yvonne

    Of particular concern to educational psychologists when assessing hearing-impaired children is the identification of learning difficulties in addition to deafness which might hinder progress with language development. This study sought to replicate research which showed that some deaf children who have difficulty with fine motor movements and body…

  15. The Grammatical Morpheme Deficit in Moderate Hearing Impairment

    ERIC Educational Resources Information Center

    McGuckian, Maria; Henry, Alison

    2007-01-01

    Background: Much remains unknown about grammatical morpheme (GM) acquisition by children with moderate hearing impairment (HI) acquiring spoken English. Aims: To investigate how moderate HI impacts on the use of GMs in speech and to provide an explanation for the pattern of findings. Methods & Procedures: Elicited and spontaneous speech data were…

  16. Anger Expression Styles of Hearing Impaired Individuals Doing Sport and Those Not Doing Sport

    ERIC Educational Resources Information Center

    Altin, Mehmet

    2015-01-01

    The aim of this research was to determine the anger expression styles between the sportive hearing impaired individuals and the sedentary hearing impaired individuals. In the sportive hearing impaired group, there were 170 participants: 62 females and 108 males doing basketball, volleyball and football teams as licensed sportsmen in various clubs…

  17. Sign-Talk: Public Communication for the Hearing Impaired. Revised Edition.

    ERIC Educational Resources Information Center

    Lytle, Jayne S.; Gawlik, Rudolph

    The major goals of this communication textbook for hearing impaired students are to illustrate that public speaking is an activity for hearing impaired persons, to discuss public speaking techniques unique to hearing impaired communicators, and to facilitate comprehension of content by special learning devices. Separate chapters deal with public…

  18. The Learning Achievement in Thai Language for Hearing Impaired Students in Thailand

    ERIC Educational Resources Information Center

    Nuttaya, Iam-Khong; Surachai, Suksakulchai; Wacheerapan, Kaewprapan

    2011-01-01

    The development of language skills, reading and writing, is very important for hearing impaired students. However, there is no evident about the current language proficiency of Thai hearing impaired students. Therefore, the purposes of this research were to compare the language achievement of Thai hearing impaired students with the national…

  19. Additional Handicapping Conditions Among Hearing Impaired Students. United States: 1971-72.

    ERIC Educational Resources Information Center

    Gentile, Augustine; McCarthy Barbara

    The Annual Survey of Hearing Impaired Children and Youth (1971-72) obtained information on 42,513 students enrolled in 636 preschool, elementary, and secondary educational programs for the hearing impaired. Data were gathered on the number of hearing impaired students with additional handicapping conditions, the types of conditions reported, the…

  20. 45 CFR 1308.11 - Eligibility criteria: Hearing impairment including deafness.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... frequently, and receive speech, language or hearing services as indicated by the IEPs. As soon as special... 45 Public Welfare 4 2010-10-01 2010-10-01 false Eligibility criteria: Hearing impairment including... impairment including deafness. (a) A child is classified as deaf if a hearing impairment exists which is...

  1. 45 CFR 1308.11 - Eligibility criteria: Hearing impairment including deafness.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... frequently, and receive speech, language or hearing services as indicated by the IEPs. As soon as special... 45 Public Welfare 4 2011-10-01 2011-10-01 false Eligibility criteria: Hearing impairment including... impairment including deafness. (a) A child is classified as deaf if a hearing impairment exists which is...

  2. 45 CFR 1308.11 - Eligibility criteria: Hearing impairment including deafness.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... frequently, and receive speech, language or hearing services as indicated by the IEPs. As soon as special... 45 Public Welfare 4 2014-10-01 2014-10-01 false Eligibility criteria: Hearing impairment including... impairment including deafness. (a) A child is classified as deaf if a hearing impairment exists which is...

  3. 45 CFR 1308.11 - Eligibility criteria: Hearing impairment including deafness.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... frequently, and receive speech, language or hearing services as indicated by the IEPs. As soon as special... 45 Public Welfare 4 2013-10-01 2013-10-01 false Eligibility criteria: Hearing impairment including... impairment including deafness. (a) A child is classified as deaf if a hearing impairment exists which is...

  4. Lipreading sentences with vibrotactile vocoders: performance of normal-hearing and hearing-impaired subjects.

    PubMed

    Bernstein, L E; Demorest, M E; Coulter, D C; O'Connell, M P

    1991-12-01

    Three vibrotactile vocoders were compared in a training study involving several different speech perception tasks. Vocoders were: (1) the Central Institute for the Deaf version of the Queen's University vocoder, with 1/3-oct filter spacing and logarithmic output scaling (CIDLog) [Engebretson and O'Connell, IEEE Trans. Biomed. Eng. BME-33, 712-716 (1986)]; (2) the same vocoder with linear output scaling (CIDLin); and (3) the Gallaudet University vocoder designed with greater resolution in the second formant region, relative to the CID vocoders, and linear output scaling (GULin). Four normal-hearing subjects were assigned to either of two control groups, visual-only control and vocoder control, for which they received the CIDLog vocoder. Five normal-hearing and four hearing-impaired subjects were assigned to the linear vocoders. Results showed that the three vocoders provided equivalent information in word-initial and word-final tactile-only consonant identification. However, GULin was the only vocoder significantly effective in enhancing lipreading of isolated prerecorded sentences. Individual subject analyses showed significantly enhanced lipreading by the three normal-hearing and two hearing-impaired subjects who received the GULin vocoder. Over the entire training period of the experiment, the mean difference between aided and unaided lipreading of sentences by the GULin aided hearing-impaired subjects was approximately 6% words correct. Possible explanations for failure to confirm previous success with the CIDLog vocoder [Weisenberger et al., J. Acoust. Soc. Am. 86, 1764-1775 (1989)] are discussed. PMID:1838561

  5. Rapid word-learning in normal-hearing and hearing-impaired children

    PubMed Central

    Pittman, A. L.; Lewis, D. E.; Hoover, B. M.; Stelmachowicz, P. G.

    2008-01-01

    Objective This study examined rapid word learning in 5- to 14-year-old children with normal and impaired hearing. The effects of age and receptive vocabulary were examined as well as those of high-frequency amplification. Novel words were low-pass filtered at 4 kHz (typical of current amplification devices) and at 9 kHz. It was hypothesized that: 1) the children with normal hearing would learn more words than the children with hearing loss, 2) word learning would increase with age and receptive vocabulary for both groups, and 3) both groups would benefit from a broader frequency bandwidth. Design Sixty children with normal hearing and 37 children with moderate sensorineural hearing losses participated in this study. Each child viewed a 4-minute animated slideshow containing 8 nonsense words created using the 24 English consonant phonemes (3 consonants per word). Each word was repeated 3 times. Half of the 8 words were low-pass filtered at 4 kHz and half were filtered at 9 kHz. After viewing the story twice, each child was asked to identify the words from among pictures in the slide show. Prior to testing, a measure of current receptive vocabulary was obtained using the Peabody Picture Vocabulary Test (PPVT-III). Results The PPVT-III scores of the hearing-impaired children were consistently poorer than those of the normal-hearing children across the age range tested. A similar pattern of results was observed for word-learning in that the performance of the hearing-impaired children was significantly poorer than that of the normal-hearing children. Further analysis of the PPVT and word learning scores suggested that although word learning was delayed in the hearing-impaired children, their performance was consistent with their receptive vocabularies. Additionally, no correlation was found between overall performance and the age of identification, age of amplification, or years of amplification in the children with hearing loss. Results also revealed a small increase

  6. Hearing Loss and Deafness. An Annotated Bibliography of Children's Books about Hearing Loss, Deafness, and Hearing Impaired People. Have You Ever Wondered About...?

    ERIC Educational Resources Information Center

    Oldman-Brown, Deborah

    The annotated bibliography lists children's books about hearing loss, deafness, and hearing-impaired persons. The first section lists books about Helen Keller and Anne Sullivan, Keller's teacher. In section 2, each of the fiction entries features at least one major character with hearing impairment. Section 3 contains non-fiction books about…

  7. Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation

    PubMed Central

    Naito, Takehiko; Nishio, Shin-ya; Iwasa, Yoh-ichiro; Yano, Takuya; Kumakawa, Kozo; Abe, Satoko; Ishikawa, Kotaro; Kojima, Hiromi; Namba, Atsushi; Oshikawa, Chie; Usami, Shin-ichi

    2013-01-01

    The present study of KCNQ4 mutations was carried out to 1) determine the prevalence by unbiased population-based genetic screening, 2) clarify the mutation spectrum and genotype/phenotype correlations, and 3) summarize clinical characteristics. In addition, a review of the reported mutations was performed for better understanding of this deafness gene. The screening using 287 probands from unbiased Japanese autosomal dominant nonsyndromic hearing loss (ADNSHL) families identified 19 families with 7 different disease causing mutations, indicating that the frequency is 6.62% (19/287). While the majority were private mutations, one particular recurrent mutation, c.211delC, was observed in 13 unrelated families. Haplotype analysis in the vicinity of c.211delC suggests existence of a common ancestor. The majority of the patients showed all frequency, but high-frequency predominant, sensorineural hearing loss. The present study adds a new typical audiogram configuration characterized by mid-frequency predominant hearing loss caused by the p.V230E mutation. A variant at the N-terminal site (c. 211delC) showed typical ski-slope type audiogram configuration. Concerning clinical features, onset age was from 3 to 40 years old, and mostly in the teens, and hearing loss was gradually progressive. Progressive nature is a common feature of patients with KCNQ4 mutations regardless of the mutation type. In conclusion, KCNQ4 mutations are frequent among ADNSHL patients, and therefore screening of the gene and molecular confirmation of these mutations have become important in the diagnosis of these conditions. PMID:23717403

  8. Spanish hearing impairment inventory for the elderly.

    PubMed

    López-Vázquez, Mónica; Orozco, José Antonio; Jiménez, Graciela; Berruecos, Pedro

    2002-06-01

    Self-assessment tools have proven to be useful in everyday practice in the audiology field, mostly in developed countries. There is a lack of such tests in Spanish. Our objective was to construct an inventory that could help us to identify elderly non-institutionalized patients who need an audiological assessment; we did not intend to identify or qualify emotional or social/situational reactions towards hearing handicap. As a prototype we initially translated, adapted and standardized the Hearing Handicap Inventory for the Elderly. This questionnaire was given to 60 elderly subjects. The performance on each question was compared with the audiometric results. After selecting useful and suitable questions, modifying some others and eliminating those with a poor performance, a new inventory in Spanish was developed. This final version was then tested in 63 elderly subjects. Very good scores were obtained for each question. An 'easy-to-use' rule is proposed in order to identify those patients who need to be audiologically tested. A brief meta-linguistic analysis is made on semantic and cultural factors that contributed to good translation and cultural adaptation. PMID:12154812

  9. Molecular Epidemiology and Functional Assessment of Novel Allelic Variants of SLC26A4 in Non-Syndromic Hearing Loss Patients with Enlarged Vestibular Aqueduct in China

    PubMed Central

    Tang, Jie; Zhang, Guozheng; Wang, Guojian; Han, Mingyu; Zhang, Xun; Yang, Shiming; He, David Z. Z.; Dai, Pu

    2012-01-01

    Background Mutations in SLC26A4, which encodes pendrin, are a common cause of deafness. SLC26A4 mutations are responsible for Pendred syndrome and non-syndromic enlarged vestibular aqueduct (EVA). The mutation spectrum of SLC26A4 varies widely among ethnic groups. To investigate the incidence of EVA in Chinese population and to provide appropriate genetic testing and counseling to patients with SLC26A4 variants, we conducted a large-scale molecular epidemiological survey of SLC26A4. Methods A total of 2352 unrelated non-syndromic hearing loss patients from 27 different regions of China were included. Hot spot regions of SLC26A4, exons 8, 10 and 19 were sequenced. For patients with one allelic variant in the hot spot regions, the other exons were sequenced one by one until two mutant alleles had been identified. Patients with SLC26A4 variants were then examined by temporal bone computed tomography scan for radiological diagnosis of EVA. Ten SLC26A4 variants were cloned for functional study. Confocal microscopy and radioisotope techniques were used to examine the membrane expression of pendrin and transporter function. Results Of the 86 types of variants found, 47 have never been reported. The ratio of EVA in the Chinese deaf population was at least 11%, and that in patients of Han ethnicity reached at least 13%. The mutational spectrum and mutation detection rate of SLC26A4 are distinct among both ethnicities and regions of Mainland China. Most of the variants caused retention of pendrin in the intracellular region. All the mutant pendrins showed significantly reduced transport capability. Conclusion An overall description of the molecular epidemiological findings of SLC26A4 in China is provided. The functional assessment procedure can be applied to identification of pathogenicity of variants. These findings are valuable for genetic diagnosis, genetic counseling, prenatal testing and pre-implantation diagnosis in EVA families. PMID:23185506

  10. Exome Sequencing Identifies a Novel CEACAM16 Mutation Associated with Autosomal Dominant Nonsyndromic Hearing Loss DFNA4B in a Chinese Family

    PubMed Central

    He, Chufeng; Li, Haibo; Qing, Jie; Grati, Mhamed; Hu, Zhengmao; Li, Jiada; Hu, Yiqiao; Xia, Kun; Mei, Lingyun; Wang, Xingwei; Yu, Jianjun; Chen, Hongsheng; Jiang, Lu; Liu, Yalan; Men, Meichao; Zhang, Hailin; Guan, Liping; Xiao, Jingjing; Zhang, Jianguo; Liu, Xuezhong; Feng, Yong

    2014-01-01

    Autosomal dominant nonsyndromic hearing loss (ADNSHL/DFNA) is a highly genetically heterogeneous disorder. Hitherto only about 30 ADNSHL-causing genes have been identified and many unknown genes remain to be discovered. In this research, genome-wide linkage analysis mapped the disease locus to a 4.3 Mb region on chromosome 19q13 in SY-026, a five-generation nonconsanguineous Chinese family affected by late-onset and progressive ADNSHL. This linkage region showed partial overlap with the previously reported DFNA4. Simultaneously, probands were analyzed using exome capture followed by next generation sequencing. Encouragingly, a heterozygous missense mutation, c.505G>A (p.G169R) in exon 3 of the CEACAM16 gene (carcinoembryonic antigen-related cell adhesion molecule 16), was identified via this combined strategy. Sanger sequencing verified that the mutation co-segregated with hearing loss in the family and that it was not present in 200 unrelated control subjects with matched ancestry. This is the second report in the literature of a family with ADNSHL caused by CEACAM16 mutation. Immunofluorescence staining and Western blots also prove CEACAM16 to be a secreted protein. Furthermore, our studies in transfected HEK293T cells show that the secretion efficacy of the mutant CEACAM16 is much lower than that of the wild-type, suggesting a deleterious effect of the sequence variant. PMID:25589040

  11. Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.

    PubMed

    Wang, Honghan; Wang, Xinwei; He, Chufeng; Li, Haibo; Qing, Jie; Grati, M'hamed; Hu, Zhengmao; Li, Jiada; Hu, Yiqiao; Xia, Kun; Mei, Lingyun; Wang, Xingwei; Yu, Jianjun; Chen, Hongsheng; Jiang, Lu; Liu, Yalan; Men, Meichao; Zhang, Hailin; Guan, Liping; Xiao, Jingjing; Zhang, Jianguo; Liu, Xuezhong; Feng, Yong

    2015-03-01

    Autosomal dominant nonsyndromic hearing loss (ADNSHL/DFNA) is a highly genetically heterogeneous disorder. Hitherto only about 30 ADNSHL-causing genes have been identified and many unknown genes remain to be discovered. In this research, genome-wide linkage analysis mapped the disease locus to a 4.3 Mb region on chromosome 19q13 in SY-026, a five-generation nonconsanguineous Chinese family affected by late-onset and progressive ADNSHL. This linkage region showed partial overlap with the previously reported DFNA4. Simultaneously, probands were analyzed using exome capture followed by next-generation sequencing. Encouragingly, a heterozygous missense mutation, c.505G>A (p.G169R) in exon 3 of the CEACAM16 gene (carcinoembryonic antigen-related cell adhesion molecule 16), was identified via this combined strategy. Sanger sequencing verified that the mutation co-segregated with hearing loss in the family and that it was not present in 200 unrelated control subjects with matched ancestry. This is the second report in the literature of a family with ADNSHL caused by CEACAM16 mutation. Immunofluorescence staining and western blots also prove CEACAM16 to be a secreted protein. Furthermore, our studies in transfected HEK293T cells show that the secretion efficacy of the mutant CEACAM16 is much lower than that of the wild type, suggesting a deleterious effect of the sequence variant. PMID:25589040

  12. Perception of spectral contrast by hearing-impaired listeners.

    PubMed

    Dreisbach, Laura E; Leek, Marjorie R; Lentz, Jennifer J

    2005-08-01

    The ability to discriminate the spectral shapes of complex sounds is critical to accurate speech perception. Part of the difficulty experienced by listeners with hearing loss in understanding speech sounds in noise may be related to a smearing of the internal representation of the spectral peaks and valleys because of the loss of sensitivity and an accompanying reduction in frequency resolution. This study examined the discrimination by hearing-impaired listeners of highly similar harmonic complexes with a single spectral peak located in 1 of 3 frequency regions. The minimum level difference between peak and background harmonics required to discriminate a small change in the spectral center of the peak was measured for peaks located near 2, 3, or 4 kHz. Component phases were selected according to an algorithm thought to produce either highly modulated (positive Schroeder) or very flat (negative Schroeder) internal waveform envelopes in the cochlea. The mean amplitude difference between a spectral peak and the background components required for discrimination of pairs of harmonic complexes (spectral contrast threshold) was from 4 to 19 dB greater for listeners with hearing impairment than for a control group of listeners with normal hearing. In normal-hearing listeners, improvements in threshold were seen with increasing stimulus level, and there was a strong effect of stimulus phase, as the positive Schroeder stimuli always produced lower thresholds than the negative Schroeder stimuli. The listeners with hearing loss showed no consistent spectral contrast effects due to stimulus phase and also showed little improvement with increasing stimulus level, once their sensitivity loss was overcome. The lack of phase and level effects may be a result of the more linear processing occurring in impaired ears, producing poorer-than-normal frequency resolution, a loss of gain for low amplitudes, and an altered cochlear phase characteristic in regions of damage. PMID:16378482

  13. Better-ear glimpsing in hearing-impaired listeners

    PubMed Central

    Best, Virginia; Mason, Christine R.; Kidd, Gerald; Iyer, Nandini; Brungart, Douglas S.

    2015-01-01

    When competing speech sounds are spatially separated, listeners can make use of the ear with the better target-to-masker ratio. Recent studies showed that listeners with normal hearing are able to efficiently make use of this “better-ear,” even when it alternates between left and right ears at different times in different frequency bands, which may contribute to the ability to listen in spatialized speech mixtures. In the present study, better-ear glimpsing in listeners with bilateral sensorineural hearing impairment, who perform poorly in spatialized speech mixtures, was investigated. The results suggest that this deficit is not related to better-ear glimpsing. PMID:25698053

  14. [Hearing impairment and language delay in infants: diagnostic and genetic].

    PubMed

    Lang-Roth, R

    2014-03-01

    This article gives an overview on important aspects of hearing and language development of infants and toddlers. Newborn hearing screening is implemented in Germany for all infants since January 2009. The realization of early postnatal hearing screening is regulated by a publication of the "Gemeinsamer Bundesausschuss". It regulates the measurement method (TEOAE or AABR screening) and differs between healthy and sick newborns. It also rules the timetable of rescreening and if it still fails of paedaudiological follow up. The second part refers to objective and subjective assessment of hearing loss and different important issues of permanent childhood hearing impairment are discussed. Especially CMV infection by materno-fetal transmission and hereditary hearing loss is addressed in comparison to otitis media with effusion. Speech and language development in the first three years of live and the corresponding nomenclature is introduced in the last part. Different parent questionnaires are well established in evaluation of early language acquisition. An early diagnosis of language delay is possible and therapeutic measures can be established to prevent further social and psychological problems. PMID:24710780

  15. A causal relationship between hearing loss and cognitive impairment.

    PubMed

    Park, So Young; Kim, Min Jung; Sikandaner, Huerxidan; Kim, Dong-Kee; Yeo, Sang Won; Park, Shi Nae

    2016-05-01

    Conclusion Moderate hearing loss in young mice caused decreases in cognition associated with spatial working and recognition memories in 6 months. These results provide evidence for a causal relationship between hearing loss and cognitive impairment. Objectives Hypothesized mechanisms to connect sensory and cognitive functions include the sensory-deprivation, information-degradation, and common-cause hypotheses. This study intended to investigate the effect of hearing loss on cognitive function, as estimated by radial arm maze (RAM) and novel object recognition (NOR) tasks in mice through age- and hearing-matched longitudinal work during a 6-month period. Methods Twenty-four male C57BL/6 mice aged 1 month with normal ABR thresholds were used. Twelve mice in the hearing loss (HL) group were exposed to white noise at 110 dB SPL for 60 min every day for 20 days. At post-noise 6 months, all mice underwent RAM and one-trial NOR test. RAM performance measures and NOR discrimination index were compared between two groups. Results At 6 months after noise exposure, all mice in the experimental group had moderate hearing loss. Most of the RAM performances improved gradually within each group across five trials, probably due to learning effect. The HL group showed lower performance scores than the control group in several trial points in the RAM task. The contact time with the novel object was shorter in the HL group than in the control group. PMID:26808715

  16. A Sociological Approach to the Social Integration of Hearing-Impaired and Normally Hearing Students.

    ERIC Educational Resources Information Center

    Lee, Carolyn; Antia, Shirin

    1992-01-01

    This paper describes Gordon Allport's contact theory (which contrasts effects of casual contact and contact leading to acquaintanceship) and the findings of social integration research. Theories are applied to fostering true social integration of hearing-impaired students being educated in mainstream settings. Educators are urged to maximize…

  17. Age-related hearing impairment and the triad of acquired hearing loss

    PubMed Central

    Yang, Chao-Hui; Schrepfer, Thomas; Schacht, Jochen

    2015-01-01

    Understanding underlying pathological mechanisms is prerequisite for a sensible design of protective therapies against hearing loss. The triad of age-related, noise-generated, and drug-induced hearing loss displays intriguing similarities in some cellular responses of cochlear sensory cells such as a potential involvement of reactive oxygen species (ROS) and apoptotic and necrotic cell death. On the other hand, detailed studies have revealed that molecular pathways are considerably complex and, importantly, it has become clear that pharmacological protection successful against one form of hearing loss will not necessarily protect against another. This review will summarize pathological and pathophysiological features of age-related hearing impairment (ARHI) in human and animal models and address selected aspects of the commonality (or lack thereof) of cellular responses in ARHI to drugs and noise. PMID:26283913

  18. Aided and Unaided Speech Perception by Older Hearing Impaired Listeners

    PubMed Central

    Woods, David L.; Arbogast, Tanya; Doss, Zoe; Younus, Masood; Herron, Timothy J.; Yund, E. William

    2015-01-01

    The most common complaint of older hearing impaired (OHI) listeners is difficulty understanding speech in the presence of noise. However, tests of consonant-identification and sentence reception threshold (SeRT) provide different perspectives on the magnitude of impairment. Here we quantified speech perception difficulties in 24 OHI listeners in unaided and aided conditions by analyzing (1) consonant-identification thresholds and consonant confusions for 20 onset and 20 coda consonants in consonant-vowel-consonant (CVC) syllables presented at consonant-specific signal-to-noise (SNR) levels, and (2) SeRTs obtained with the Quick Speech in Noise Test (QSIN) and the Hearing in Noise Test (HINT). Compared to older normal hearing (ONH) listeners, nearly all unaided OHI listeners showed abnormal consonant-identification thresholds, abnormal consonant confusions, and reduced psychometric function slopes. Average elevations in consonant-identification thresholds exceeded 35 dB, correlated strongly with impairments in mid-frequency hearing, and were greater for hard-to-identify consonants. Advanced digital hearing aids (HAs) improved average consonant-identification thresholds by more than 17 dB, with significant HA benefit seen in 83% of OHI listeners. HAs partially normalized consonant-identification thresholds, reduced abnormal consonant confusions, and increased the slope of psychometric functions. Unaided OHI listeners showed much smaller elevations in SeRTs (mean 6.9 dB) than in consonant-identification thresholds and SeRTs in unaided listening conditions correlated strongly (r = 0.91) with identification thresholds of easily identified consonants. HAs produced minimal SeRT benefit (2.0 dB), with only 38% of OHI listeners showing significant improvement. HA benefit on SeRTs was accurately predicted (r = 0.86) by HA benefit on easily identified consonants. Consonant-identification tests can accurately predict sentence processing deficits and HA benefit in OHI listeners

  19. Hearing impairment in Parkinson's disease: expanding the nonmotor phenotype.

    PubMed

    Vitale, Carmine; Marcelli, Vincenzo; Allocca, Roberto; Santangelo, Gabriella; Riccardi, Pasquale; Erro, Roberto; Amboni, Marianna; Pellecchia, Maria Teresa; Cozzolino, Autilia; Longo, Katia; Picillo, Marina; Moccia, Marcello; Agosti, Valeria; Sorrentino, G; Cavaliere, Michele; Marciano, Elio; Barone, Paolo

    2012-10-01

    The objective of this study was to evaluate hearing impairment in patients affected by Parkinson's disease compared with hearing scores observed in normal age- and sex-matched controls. One hundred eighteen consecutive patients with a clinical diagnosis of Parkinson's disease were screened. Severity of motor symptoms and staging were measured with the Unified Parkinson's Disease Rating Scale (section III) and the Hoehn and Yahr scale. Audiometric evaluation consisted of a comprehensive audiologic case history and questionnaire, visual otoscopic examination, acoustic immittance measures (tympanogram and acoustic reflexes), pure tone audiometry, and measurement of brain stem auditory-evoked potentials. Healthy age- and sex-matched subjects were selected as the control group. One hundred six of 118 patients were enrolled. Pure tone audiometry revealed age-dependent high-frequency hearing loss in patients with Parkinson's disease compared with both normative values and values for healthy age- and sex-matched controls (75/106 [71%], χ(2) = 5.959, P = .02; 92/106 [86.8%] vs 60/106 [56.6%], χ(2) = 23.804, P < .001, respectively). Pure tone audiometry scores correlated with Hoehn and Yahr scale scores (P < .05). Brain stem auditory-evoked potentials were normal in all patients. Our patients with Parkinson's disease showed age-dependent peripheral, unilateral, or bilateral hearing impairment. Whether these auditory deficits are intrinsic to Parkinson's disease or secondary to a more complex impaired processing of sensorial inputs occurring over the course of illness remains to be determined. Because α-synuclein is located predominately in the efferent neuronal system within the inner ear, it could affect susceptibility to noise-induced hearing loss or presbycusis. It is feasible that the natural aging process combined with neurodegenerative changes intrinsic to Parkinson's disease might interfere with cochlear transduction mechanisms, thus anticipating presbycusis. PMID

  20. The Relationship between Word and Stress Pattern Recognition Ability and Hearing Level in Hearing-Impaired Young Adults.

    ERIC Educational Resources Information Center

    Jackson, Pamela; Kelly-Ballweber, Denise

    1986-01-01

    The relationship between word and stress pattern recognition ability and hearing level was explored by administering the Children's Auditory Test to hearing-impaired young adults (N=27). For word recognition, subjects with average hearing loss between 85 and 100 decibels demonstrated a wide range of performance not predictable from their…

  1. Acoustics and sociolinguistics: Patterns of communication in hearing impairing classrooms

    NASA Astrophysics Data System (ADS)

    McKellin, William; Shahin, Kimary; Jamieson, Janet; Hodgson, Murray; Pichora-Fuller, Kathleen

    2005-04-01

    In elementary school classes, noise during student led activities is often taken as evidence of successful interaction and learning. In this complex social environment of elementary school classrooms, acquisition of complex language and social skills-the focus of activities in early education-is expected to take place in hearing-hostile environments. Communication and language processing in these contexts requires interactive strategies, discourse forms, and syntactic structures different from the educationally desired forms used in acoustically advantageous environments. Recordings were made of the interaction of groups of students in grades 1-3, 5, and 7 during collaborative group work in their regular classrooms. Each student wore microphones at the ear level and head-mounted video cameras. Each group as a whole was also audio- and videotaped and noise level readings were recorded. Analysis of the acoustical and phonological properties of language heard by each student has demonstrated that the language variety used in these noisy and reverberant settings is similar to that of individuals with hearing impairments. This paper reports similarities between the syntactic structures and pragmatic strategies used by hearing impaired children and normally hearing children in noisy contexts. [Work supported by Peter Wall Institute for Advanced Studies, University of British Columbia.

  2. Communication Partners' Journey through Their Partner's Hearing Impairment

    PubMed Central

    Manchaiah, Vinaya K. C.; Stephens, Dafydd; Lunner, Thomas

    2013-01-01

    The objective of this study was to further develop the Ida Institute model on communication partners' (CPs) journey through experiences of person with hearing impairment (PHI), based on the perspectives of CPs. Nine CPs of hearing aid users participated in this study, recruited through the Swansea hearing impaired support group. Semi-structured interviews were conducted, the data were analysed using qualitative thematic analysis and presented with the use of process mapping approach. Seven main phases were identified in the CP journey which includes: (1) contemplation, (2) awareness, (3) persuasion, (4) validation, (5) rehabilitation, (6) adaptation, and (7) resolution. The Ida Institute model (based on professionals' perspective) was compared with the new template developed (based on CPs' perspectives). The results suggest some commonalities and differences between the views of professionals and CPs. A new phase, adaptation, was identified from CPs reported experiences, which was not identified by professionals in the Ida Institute model. The CP's journey model could be a useful tool during audiological enablement/rehabilitation sessions to promote discussion between the PHI and the CP. In addition, it can be used in the training of hearing healthcare professionals. PMID:23533422

  3. Intrinsic fundamental frequency effects in hearing impaired speakers

    NASA Astrophysics Data System (ADS)

    Gick, Bryan; Bernhardt, Barbara; Bacsfalvi, Penelope

    2001-05-01

    The source of the well-known intrinsic fundamental frequency (IF0) effect of vowel height has been controversial for decades. Previous work has found the average IF0 effect cross-linguistically to be 15.3 Hz [Whalen and Levitt, J. Phonetics (1995)]. The present study investigates IF0 for four hearing-impaired speakers. Based on previous observations that profoundly hearing impaired speakers vary voice pitch less than normal hearing speakers [Osberger and McGarr, Speech Lang. (1982)], our participants were expected to show a reduced IF0 effect. However, results show an average IF0 effect of 22 Hz, with a markedly wide range across speakers, from -4 to 48 Hz, with three of the four participants showing an above average-sized effect. Further, results of measures taken following speech articulation intervention using visual feedback [Bernhardt et al., Clin. Linguist Phonet. (2003)] show a decrease in IF0 for the speakers with an over-sized effect, and an increase in the speaker with an under-sized effect, despite that neither IF0 nor pitch in general were included in treatment. Results of this study support a lingual-articulatory origin for IF0, as well as suggesting that normal-hearing speakers may use auditory feedback to mediate what would otherwise be a larger effect. [Research supported by NSERC.

  4. Real world issues in classroom acoustics for hearing impaired students

    NASA Astrophysics Data System (ADS)

    Kleinschmidt, Klaus

    2005-04-01

    Experience is being gained from evaluating and modifying the acoustical properties and background noise levels of existing classrooms for use by hearing impaired students. Projects include more than 25 schools in public school systems that are mainstreaming handicapped children. Various practical and economic restrictions have led to recommendations for modifications that do not necessarily comply with ANSI S12.60 2002. Examples of real world conditions and practical solutions will be described.

  5. Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family

    PubMed Central

    Reiisi, Somayeh; Tabatabaiefar, Mohammad Amin; Sanati, Mohammad Hosein; Chaleshtori, Morteza Hashemzadeh

    2016-01-01

    Objective(s): Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated in about half of autosomal recessive non-syndromic hearing loss (ARNSHL) cases, making this the most common cause of ARNSHL. For the latter form of deafness, most frequent genes proposed include GJB2, SLC26A4, MYO15A, OTOF, and CDH23 worldwide. Materials and Methods: The aim of the present study was to define the role and frequency of MYO15A gene mutation in Iranian families. In this study 30 Iranian families were enrolled with over three deaf children and negative for GJB2. Then linkage analysis was performed by six DFNB3 short tandem repeat markers. Following that, mutation detection accomplished using DNA sequencing. Results: One family (3.33%) showed linkage to DFNB3 and a novel mutation was identified in the MYO15A gene (c.6442T>A): as the disease-causing mutation. Mutation co-segregated with hearing loss in the family but was not present in the 100 ethnicity-matched controls. Conclusion: Our results confirmed that the hearing loss of the linked Iranian family was caused by a novel missense mutation in the MYO15A gene. This mutation is the first to be reported in the world and affects the first MyTH4 domain of the protein.

  6. Implementation and Evaluation of Computer-Aided Mandarin Phonemes Training System for Hearing-Impaired Students

    ERIC Educational Resources Information Center

    Yang, Hui-Jen; Lay, Yun-Long

    2005-01-01

    A computer-aided Mandarin phonemes training (CAMPT) system was developed and evaluated for training hearing-impaired students in their pronunciation of Mandarin phonemes. Deaf or hearing-impaired people have difficulty hearing their own voice, hence most of them cannot learn how to speak. Phonemes are the basis for learning to read and speak in…

  7. Deaf and Hearing Impaired Children in Regional and Rural Areas: Parent Views on Educational Services

    ERIC Educational Resources Information Center

    Checker, Lisa J.; Remine, Maria D.; Brown, P. Margaret

    2009-01-01

    The general trend for the inclusion of deaf and hearing impaired students in Australia involves placing students in a mainstream classroom setting alongside their hearing peers with regular support from a Visiting Teacher of the Deaf. The provision of educational services to deaf and hearing impaired students in regional and rural areas, however,…

  8. Positive Experiences and Life Aspirations among Adolescents with and without Hearing Impairments.

    ERIC Educational Resources Information Center

    Magen, Zipora

    1990-01-01

    Comparison of 79 normally hearing and 42 hearing-impaired adolescents found no differences regarding the intensity of their remembered positive experiences. Hearing-impaired subjects reported more positive interpersonal experiences, rarely experienced positive experiences "with self," and showed less desire for transpersonal commitment, even with…

  9. The Relationship of Audibility and the Development of Canonical Babbling in Young Children with Hearing Impairment

    ERIC Educational Resources Information Center

    Bass-Ringdahl, Sandie M.

    2010-01-01

    This article investigated the relationship between age at onset of canonical babbling and audibility of amplified speech in children with hearing impairment. Thirteen children with severe-profound hearing impairment and two children with normal hearing participated in a longitudinal investigation of vocalization development. A nonconcurrent…

  10. Better-ear glimpsing at low frequencies in normal-hearing and hearing-impaired listeners.

    PubMed

    Rana, Baljeet; Buchholz, Jörg M

    2016-08-01

    Better-ear glimpsing is an auditory process that takes advantage of short-term interaural level differences (ILDs) to improve the understanding of speech in spatial fluctuating noise. Since ILDs are mainly present at high frequencies, where most hearing-impaired (HI) listeners have the strongest hearing loss, HI individuals cannot fully utilize ILDs for better-ear glimpsing, which may lead to poorer understanding of speech in noise. This problem may be alleviated by hearing aids that artificially generate ILDs at low frequencies where hearing is typically less impaired. The present study therefore investigated the spatial benefit in speech intelligibility that is provided by better-ear glimpsing with low-frequency extended ILDs in a symmetric two-distractor speech background. Speech reception thresholds were measured in a spatially co-located and separated condition as a function of frequency region in ten normal-hearing (NH) and ten mild-to-moderate sensorineural HI subjects. In both groups the extended ILDs provided a substantial spatial advantage on top of the advantage already provided by natural ILDs. Moreover, the spatial advantage was largely independent of frequency region, suggesting that both NH and HI subjects can utilize low-frequency ILDs for improving speech understanding in noise. Overall performance as well as spatial advantage was reduced in the HI group. PMID:27586748

  11. Optimization of speech in noise with three signal processing algorithms for normal-hearing and hearing-impaired subjects

    NASA Astrophysics Data System (ADS)

    Franck, Bas A. M.; Dreschler, Wouter A.; Lyzenga, Johannes

    2002-05-01

    In this study a three-dimensional Simplex procedure was applied to optimize speech in noise by a combination of signal processing algorithms for different acoustic conditions and hearing losses. The algorithms used to span the three dimensions are noise reduction, spectral tilting, and spectral enhancement, respectively. Additionally, we studied the algorithms for their main effects and interaction effects within the optimization process. The subjects were asked to evaluate two consecutive, differently processed sentences on listening comfort. Three different noise types and two signal-to-noise ratios (S/N) were used. Three groups of subjects participated: normal hearing, normal hearing with simulated impaired auditory filtering (by spectral smearing), and sensorineurally hearing-impaired subjects. For the normal-hearing group we applied S/N=0 dB. For the hearing-impaired and the simulated hearing-impaired subjects we applied S/N=5 dB. We will discuss the similarities and differences in the response patterns of the three groups. Also, the individual preferences will be related to the hearing capacity, and to the type of interfering noise. Finally, we will discuss differences in the perceptual features that are used to judge listening comfort of the fragments by normal-hearing and hearing-impaired subjects.

  12. Cigarette smoking causes hearing impairment among Bangladeshi population.

    PubMed

    Sumit, Ahmed Faisal; Das, Anindya; Sharmin, Zinat; Ahsan, Nazmul; Ohgami, Nobutaka; Kato, Masashi; Akhand, Anwarul Azim

    2015-01-01

    Lifestyle including smoking, noise exposure with MP3 player and drinking alcohol are considered as risk factors for affecting hearing synergistically. However, little is known about the association of cigarette smoking with hearing impairment among subjects who carry a lifestyle without using MP3 player and drinking alcohol. We showed here the influence of smoking on hearing among Bangladeshi subjects who maintain a lifestyle devoid of using MP3 player and drinking alcohol. A total of 184 subjects (smokers: 90; non-smokers: 94) were included considering their duration and frequency of smoking for conducting this study. The mean hearing thresholds of non-smoker subjects at 1, 4, 8 and 12 kHz frequencies were 5.63 ± 2.10, 8.56±5.75, 21.06 ± 11.06, 40.79 ± 20.36 decibel (dB), respectively and that of the smokers were 7 ± 3.8, 13.27 ± 8.4, 30.66 ± 12.50 and 56.88 ± 21.58 dB, respectively. The hearing thresholds of the smokers at 4, 8 and 12 kHz frequencies were significantly (p<0.05) higher than those of the non-smokers, while no significant differences were observed at 1 kHz frequency. We also observed no significant difference in auditory thresholds among smoker subgroups based on smoking frequency. In contrast, subjects smoked for longer duration (>5 years) showed higher level of auditory threshold (62.16 ± 19.87 dB) at 12 kHz frequency compared with that (41.52 ± 19.21 dB) of the subjects smoked for 1-5 years and the difference in auditory thresholds was statistically significant (p<0.0002). In this study, the Brinkman Index (BI) of smokers was from 6 to 440 and the adjusted odds ratio showed a positive correlation between hearing loss and smoking when adjusted for age and body mass index (BMI). In addition, age, but not BMI, also played positive role on hearing impairment at all frequencies. Thus, these findings suggested that cigarette smoking affects hearing level at all the frequencies tested but most significantly at extra higher frequencies. PMID

  13. Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family.

    PubMed

    Cheng, Jing; Zhou, Xueya; Lu, Yu; Chen, Jing; Han, Bing; Zhu, Yuhua; Liu, Liyang; Choy, Kwong-Wai; Han, Dongyi; Sham, Pak C; Zhang, Michael Q; Zhang, Xuegong; Yuan, Huijun

    2014-11-01

    Autosomal dominant types of nonsyndromic hearing loss (ADNSHL) are typically postlingual in onset and progressive. High genetic heterogeneity, late onset age, and possible confounding due to nongenetic factors hinder the timely molecular diagnoses for most patients. In this study, exome sequencing was applied to investigate a large Chinese family segregating ADNSHL in which we initially failed to find strong evidence of linkage to any locus by whole-genome linkage analysis. Two affected family members were selected for sequencing. We identified two novel mutations disrupting known ADNSHL genes and shared by the sequenced samples: c.328C>A in COCH (DFNA9) resulting in a p.Q110K substitution and a deletion c. 2814_2815delAA in MYO6 (DFNA22) causing a frameshift alteration p.R939Tfs*2. The pathogenicity of novel coding variants in ADNSHL genes was carefully evaluated by analysis of co-segregation with phenotype in the pedigree and in light of established genotype-phenotype correlations. The frameshift deletion in MYO6 was confirmed as the causative variant for this pedigree, whereas the missense mutation in COCH had no clinical significance. The results allowed us to retrospectively identify the phenocopy in one patient that contributed to the negative finding in the linkage scan. Our clinical data also supported the emerging genotype-phenotype correlation for DFNA22. PMID:25227905

  14. DFNA8/12 Caused by TECTA Mutations is the Most Identified Subtype of Non-syndromic Autosomal Dominant Hearing Loss

    PubMed Central

    Hildebrand, Michael S.; Morín, Matías; Meyer, Nicole C.; Mayo, Fernando; Modamio-Hoybjor, Silvia; Mencía, Angeles; Olavarrieta, Leticia; Morales-Angulo, Carmelo; Nishimura, Carla J.; Workman, Heather; DeLuca, Adam P.; del Castillo, Ignacio; Taylor, Kyle R.; Tompkins, Bruce; Goodman, Corey W.; Schrauwen, Isabelle; Van Wesemael, Maarten; Lachlan, K.; Shearer, A. Eliot; Braun, Terry A.; Huygen, Patrick L.M.; Kremer, Hannie; Van Camp, Guy; Moreno, Felipe; Casavant, Thomas L.; Smith, Richard J.H.; Moreno-Pelayo, Miguel A.

    2012-01-01

    The prevalence of DFNA8/DFNA12 (DFNA8/12), a type of autosomal dominant non-syndromic hearing loss (ADNSHL), is unknown as comprehensive population-based genetic screening has not been conducted. We therefore completed unbiased screening for TECTA mutations in a Spanish cohort of 372 probands from ADNSHL families. Three additional families (Spanish, Belgian and English) known to be linked to DFNA8/12 were also included in the screening. In an additional cohort of 835 American ADNSHL families, we preselected 73 probands for TECTA screening based on audiometric data. In aggregate, we identified 23 TECTA mutations in this process. Remarkably 20 of these mutations are novel, more than doubling the number of reported TECTA ADNSHL mutations from 13 to 33. Mutations lie in all domains of the α-tectorin protein, including those for the first time identified in the entactin domain, the vWFD1, vWFD2 and vWFD3 repeats, and the D1-D2 and TIL2 connectors. While the majority are private mutations, four of them – p.Cys1036Tyr, p.Cys1837Gly, p.Thr1866Met and p.Arg1890Cys – were observed in more than one unrelated family. For two of these mutations founder effects were also confirmed. Our data validate previously observed genotype-phenotype correlations in DFNA8/12 and introduce new correlations. Specifically, mutations in the N-terminal region of α-tectorin (entactin domain, vWFD1 and vWFD2) lead to mid frequency NSHL, a phenotype previously associated only with mutations in the ZP domain. Collectively, our results indicate that DFNA8/12 hearing loss is a frequent type of ADNSHL. PMID:21520338

  15. Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss.

    PubMed

    Kim, Ye-Ri; Kim, Min-A; Sagong, Borum; Bae, Seung-Hyun; Lee, Hyo-Jeong; Kim, Hyung-Jong; Choi, Jae Young; Lee, Kyu-Yup; Kim, Un-Kyung

    2015-01-01

    EYA4 and GRHL2 encode transcription factors that play an important role in regulating many developmental stages. Since EYA4 and GRHL2 were identified as the transcription factors for the DFNA10 and DFNA28, 8 EYA4 mutations and 2 GRHL2 mutations have been reported worldwide. However, these genes have been reported in few studies of the Korean population. In this study, we performed a genetic analysis of EYA4 and GRHL2 in 87 unrelated Korean patients with autosomal dominant non-syndromic hearing loss (NSHL). A total of 4 genetic variants in the EYA4 gene were identified, including the 2 nonsense mutations p.S288X and p.Q393X. The novel mutation p.Q393X (c.1177C>T) resulted in a change in the codon at amino acid position 393 from a glutamine to a stop codon. The p.Q393X allele was predicted to encode a truncated protein lacking the entire C-terminal Eya homolog region (Eya HR), which is essential for the interaction with the transcription factor SIX3. The p.S288X (c.863C>A) mutation was found in a Korean family from a previous study. We analyzed p.S288X-linked microsatellite markers and determined that p.S288X might be a founder mutation and a hotspot mutation in Koreans. In GRHL2, a total of 4 genetic variants were identified, but none were associated with hearing loss in Korean patients. This suggests that GRHL2 may not be a main causal gene for autosomal dominant NSHL in Korean patients. In conclusion, our data provide fundamental information to predict the genotypes of Korean patients diagnosed with autosomal dominant NSHL. PMID:25781927

  16. Evaluation of the Contribution of the EYA4 and GRHL2 Genes in Korean Patients with Autosomal Dominant Non-Syndromic Hearing Loss

    PubMed Central

    Sagong, Borum; Bae, Seung-Hyun; Lee, Hyo-Jeong; Kim, Hyung-Jong; Choi, Jae Young; Lee, Kyu-Yup; Kim, Un-Kyung

    2015-01-01

    EYA4 and GRHL2 encode transcription factors that play an important role in regulating many developmental stages. Since EYA4 and GRHL2 were identified as the transcription factors for the DFNA10 and DFNA28, 8 EYA4 mutations and 2 GRHL2 mutations have been reported worldwide. However, these genes have been reported in few studies of the Korean population. In this study, we performed a genetic analysis of EYA4 and GRHL2 in 87 unrelated Korean patients with autosomal dominant non-syndromic hearing loss (NSHL). A total of 4 genetic variants in the EYA4 gene were identified, including the 2 nonsense mutations p.S288X and p.Q393X. The novel mutation p.Q393X (c.1177C>T) resulted in a change in the codon at amino acid position 393 from a glutamine to a stop codon. The p.Q393X allele was predicted to encode a truncated protein lacking the entire C-terminal Eya homolog region (Eya HR), which is essential for the interaction with the transcription factor SIX3. The p.S288X (c.863C>A) mutation was found in a Korean family from a previous study. We analyzed p.S288X-linked microsatellite markers and determined that p.S288X might be a founder mutation and a hotspot mutation in Koreans. In GRHL2, a total of 4 genetic variants were identified, but none were associated with hearing loss in Korean patients. This suggests that GRHL2 may not be a main causal gene for autosomal dominant NSHL in Korean patients. In conclusion, our data provide fundamental information to predict the genotypes of Korean patients diagnosed with autosomal dominant NSHL. PMID:25781927

  17. The effect of symmetrical and asymmetrical hearing impairment on music quality perception.

    PubMed

    Cai, Yuexin; Zhao, Fei; Chen, Yuebo; Liang, Maojin; Chen, Ling; Yang, Haidi; Xiong, Hao; Zhang, Xueyuan; Zheng, Yiqing

    2016-09-01

    The purpose of this study was to investigate the effect of symmetrical, asymmetrical and unilateral hearing impairment on music quality perception. Six validated music pieces in the categories of classical music, folk music and pop music were used to assess music quality in terms of its 'pleasantness', 'naturalness', 'fullness', 'roughness' and 'sharpness'. 58 participants with sensorineural hearing loss [20 with unilateral hearing loss (UHL), 20 with bilateral symmetrical hearing loss (BSHL) and 18 with bilateral asymmetrical hearing loss (BAHL)] and 29 normal hearing (NH) subjects participated in the present study. Hearing impaired (HI) participants had greater difficulty in overall music quality perception than NH participants. Participants with BSHL rated music pleasantness and naturalness to be higher than participants with BAHL. Moreover, the hearing thresholds of the better ears from BSHL and BAHL participants as well as the hearing thresholds of the worse ears from BSHL participants were negatively correlated to the pleasantness and naturalness perception. HI participants rated the familiar music pieces higher than unfamiliar music pieces in the three music categories. Music quality perception in participants with hearing impairment appeared to be affected by symmetry of hearing loss, degree of hearing loss and music familiarity when they were assessed using the music quality rating test (MQRT). This indicates that binaural symmetrical hearing is important to achieve a high level of music quality perception in HI listeners. This emphasizes the importance of provision of bilateral hearing assistive devices for people with asymmetrical hearing impairment. PMID:26611684

  18. The Investigation of Physical Performance Status of Visually and Hearing Impaired Applying Judo Training Program

    ERIC Educational Resources Information Center

    Karakoc, Onder

    2016-01-01

    It was aimed to investigate the physical performances of visually and hearing impaired doing judo training in this study. 32 male athletes, who were doing judo training, volunteer and, visually and hearing impaired, participated in this study. The investigation was applied to visually impaired (N = 12, mean ± SD; age: 25.75 ± 3.55 years, height:…

  19. Mid-bandwidth loudness depression in hearing-impaired listeners.

    PubMed

    Hots, Jan; Jarzombek, Katrin; Verhey, Jesko L

    2016-05-01

    The loudness of a bandpass-filtered noise depends on its bandwidth. For bandwidths larger than a critical bandwidth, loudness increases as the bandwidth increases, an effect commonly referred to as spectral loudness summation. For bandwidths smaller than the critical bandwidth, it was shown recently for normal-hearing listeners that loudness decreases as the bandwidth increases. This study investigated if listeners with a hearing impairment of primarily cochlear origin also showed this effect. Levels at equal loudness between a 1500-Hz pure-tone reference and noise-band targets centered at 1500 Hz were measured for bandwidths in the range from 15 to 1620 Hz. The reference level was adjusted individually on the basis of the audiogram. The average level difference at equal loudness increased from 0 dB at 15 Hz up to a maximum of about 4 dB at 810 Hz. Thus, the mid-bandwidth loudness depression is also observed for hearing-impaired listeners. PMID:27250129

  20. Spectral-peak selection in spectral-shape discrimination by normal-hearing and hearing-impaired listeners.

    PubMed

    Lentz, Jennifer J

    2006-08-01

    Spectral-shape discrimination thresholds were measured in the presence and absence of noise to determine whether normal-hearing and hearing-impaired listeners rely primarily on spectral peaks in the excitation pattern when discriminating between stimuli with different spectral shapes. Standard stimuli were the sum of 2, 4, 6, 8, 10, 20, or 30 equal-amplitude tones with frequencies fixed between 200 and 4000 Hz. Signal stimuli were generated by increasing and decreasing the levels of every other standard component. The function relating the spectral-shape discrimination threshold to the number of components (N) showed an initial decrease in threshold with increasing N and then an increase in threshold when the number of components reached 10 and 6, for normal-hearing and hearing-impaired listeners, respectively. The presence of a 50-dB SPL/Hz noise led to a 1.7 dB increase in threshold for normal-hearing listeners and a 3.5 dB increase for hearing-impaired listeners. Multichannel modeling and the relatively small influence of noise suggest that both normal-hearing and hearing-impaired listeners rely on the peaks in the excitation pattern for spectral-shape discrimination. The greater influence of noise in the data from hearing-impaired listeners is attributed to a poorer representation of spectral peaks. PMID:16938982

  1. Multisensory dysfunction accompanies crossmodal plasticity following adult hearing impairment

    PubMed Central

    Meredith, M. Alex; Keniston, Leslie P.; Allman, Brian L.

    2012-01-01

    Until now, cortical crossmodal plasticity has largely been regarded as the effect of early and complete sensory loss. Recently, massive crossmodal cortical reorganization was demonstrated to result from profound hearing loss in adult ferrets (Allman et al., 2009a). Moderate adult hearing loss, on the other hand, induced not just crossmodal reorganization, but also merged new crossmodal inputs with residual auditory function to generate multisensory neurons. Because multisensory convergence can lead to dramatic levels of response integration when stimuli from more than one modality are present (and thereby potentially interfere with residual auditory processing), the present investigation sought to evaluate the multisensory properties of auditory cortical neurons in partially deafened adult ferrets. When compared with hearing controls, partially-deaf animals revealed elevated spontaneous levels and a dramatic increase (~2 times) in the proportion of multisensory cortical neurons, but few of which showed multisensory integration. Moreover, a large proportion (68%) of neurons with somatosensory and/or visual inputs was vigorously active in core auditory cortex in the absence of auditory stimulation. Collectively, these results not only demonstrate multisensory dysfunction in core auditory cortical neurons from hearing impaired adults but also reveal a potential cortical substrate for maladaptive perceptual effects such as tinnitus. PMID:22516008

  2. Installation and impact of sound field systems on hearing and hearing impaired children and their teachers

    NASA Astrophysics Data System (ADS)

    Dockrell, Julie; Rigby, Kate; Shield, Bridget; Carey, Anne

    2005-04-01

    An evaluation of the installation and use of sound field systems in ten schools in England has been carried out. The evaluation included noise surveys of classrooms, questionnaire surveys of pupils and teachers and experimental testing of children with and without the use of SFS. The aim of this project was to investigate the impact of SFS on teaching and learning in elementary school classrooms, in particular, to ascertain whether the SFS differentially benefited children with hearing impairments. Barriers to teachers use of SFS were found in terms of equipment placement and maintenance, appropriate training, and teacher's knowledge. Nonetheless positive reports are recorded from both teachers and pupils. Teachers' and pupils' perceptions are compared with objective data evaluating change in performance when SFS are used for language and cognitive tasks. Data from children with hearing impairments and additional learning needs are analyzed for comparative purposes. The results are discussed in terms of effective practice for the use of SFS with elementary school pupils.

  3. Aural rehabilitation of hearing-impaired adults (official policy of the British Society of Audiology).

    PubMed

    Markides, A; Brooks, D N; Hart, F G; Stephens, S D

    1979-02-01

    This report, which outlines the official policy of the British Society of Audiology on the aural rehabilitation of hearing impaired adults, (a) estimates the prevalence of hearing impairment in adults in the United Kingdom; (b) identifies the main problems associated with hearing impairment in adults; (c) outlines the main aural rehabilitative procedures and (d) puts forward recommendations for future developments in this area. PMID:435658

  4. Mutations of GJB2 Encoding Connexin 26 Contribute to Nonsyndromic Moderate and Severe Hearing Loss in Pakistan

    PubMed Central

    Salman, Midhat; Bashir, Rasheeda; Imtiaz, Ayesha; Maqsood, Azra; Mujtaba, Ghulam; Iqbal, Muddassar; Naz, Sadaf

    2015-01-01

    Mutations of GJB2 which encodes connexin 26, contribute to 6–7% of profound deafness in Pakistan. We investigated the involvement of GJB2 mutations in a cohort of 84 pedigrees and 86 sporadic individuals with moderate or severe hearing loss. Individuals in eight consanguineous families and four sporadic cases (9.52% and 4.65%, respectively) were homozygous or compound heterozygous for p.W24X or p. W77X mutations in GJB2. These two variants are also among the most common mutations known to cause profound deafness in South Asia. The association of identical mutations with both profound and less severe phenotype of hearing loss suggests that alleles of other genes modify the phenotype due to these GJB2 nonsense mutations. Our study demonstrates that GJB2 mutations are an important contributor to aetiology of moderate to severe hearing loss in Pakistan. PMID:25636251

  5. The benefit of gestures during communication: evidence from hearing and hearing-impaired individuals.

    PubMed

    Obermeier, Christian; Dolk, Thomas; Gunter, Thomas C

    2012-07-01

    There is no doubt that gestures are communicative and can be integrated online with speech. Little is known, however, about the nature of this process, for example, its automaticity and how our own communicative abilities and also our environment influence the integration of gesture and speech. In two Event Related Potential (ERP) experiments, the effects of gestures during speech comprehension were explored. In both experiments, participants performed a shallow task thereby avoiding explicit gesture-speech integration. In the first experiment, participants with normal hearing viewed videos in which a gesturing actress uttered sentences which were either embedded in multi-speaker babble noise or not. The sentences contained a homonym which was disambiguated by the information in a gesture, which was presented asynchronous to speech (1000 msec earlier). Downstream, the sentence contained a target word that was either related to the dominant or subordinate meaning of the homonym and was used to indicate the success of the disambiguation. Both the homonym and the target word position showed clear ERP evidence of gesture-speech integration and disambiguation only under babble noise. Thus, during noise, gestures were taken into account as an important communicative cue. In Experiment 2, the same asynchronous stimuli were presented to a group of hearing-impaired students and age-matched controls. Only the hearing-impaired individuals showed significant speech-gesture integration and successful disambiguation at the target word. The age-matched controls did not show any effect. Thus, individuals who chronically experience suboptimal communicative situations in daily life automatically take gestures into account. The data from both experiments indicate that gestures are beneficial in countering difficult communication conditions independent of whether the difficulties are due to external (babble noise) or internal (hearing impairment) factors. PMID:21397223

  6. Comparing participation in out of school activities between children with visual impairments, children with hearing impairments and typical peers.

    PubMed

    Engel-Yeger, Batya; Hamed-Daher, Shaima

    2013-10-01

    Hearing or visual impairments may negatively affect child's development and participation. Yet the literature about participation of children with hearing or visual impairments is insufficient. The present study aimed to compare participation patterns of children with visual impairments to those of children with hearing impairments and to typical peers and to examine the correlations between participation and socio-demographic parameters in each group. Participants were 70 children between the ages of 6-11: 25 with hearing impairments, 20 with visual impairments and 25 typical peers. All children filled the Children's Assessment of Participation and Enjoyment (CAPE). This self-report refers to participation in daily out of school activities. Children with hearing or visual impairments showed significant limited participation compared to typical peers, expressed in lower number of activities, lower participation intensity; more activities performed at home and with someone else. The limited participation was more emphasized among children with visual impairments. Socio-demographic variables (age, mother's education and socio-economic level) correlated with participation dimensions in both study groups. In conclusion, children with hearing or visual impairments may have restricted participation in out of school activities. Socio-demographic parameters may play a role in encouraging child's participation. Participation among these populations should be further studied in order to assist service providers to create intervention programs together with the child, for enhancing his/her inclusion in the community. PMID:23880031

  7. Loss of Mammal-specific Tectorial Membrane Component Carcinoembryonic Antigen Cell Adhesion Molecule 16 (CEACAM16) Leads to Hearing Impairment at Low and High Frequencies*

    PubMed Central

    Kammerer, Robert; Rüttiger, Lukas; Riesenberg, Rainer; Schäuble, Constanze; Krupar, Rosemarie; Kamp, Annegret; Sunami, Kishiko; Eisenried, Andreas; Hennenberg, Martin; Grunert, Fritz; Bress, Andreas; Battaglia, Sebastiano; Schrewe, Heinrich; Knipper, Marlies; Schneider, Marlon R.; Zimmermann, Wolfgang

    2012-01-01

    The vertebrate-restricted carcinoembryonic antigen gene family evolves extremely rapidly. Among their widely expressed members, the mammal-specific, secreted CEACAM16 is exceptionally well conserved and specifically expressed in the inner ear. To elucidate a potential auditory function, we inactivated murine Ceacam16 by homologous recombination. In young Ceacam16−/− mice the hearing threshold for frequencies below 10 kHz and above 22 kHz was raised. This hearing impairment progressed with age. A similar phenotype is observed in hearing-impaired members of Family 1070 with non-syndromic autosomal dominant hearing loss (DFNA4) who carry a missense mutation in CEACAM16. CEACAM16 was found in interdental and Deiters cells and was deposited in the tectorial membrane of the cochlea between postnatal days 12 and 15, when hearing starts in mice. In cochlear sections of Ceacam16−/− mice tectorial membranes were significantly more often stretched out as compared with wild-type mice where they were mostly contracted and detached from the outer hair cells. Homotypic cell sorting observed after ectopic cell surface expression of the carboxyl-terminal immunoglobulin variable-like N2 domain of CEACAM16 indicated that CEACAM16 can interact in trans. Furthermore, Western blot analyses of CEACAM16 under reducing and non-reducing conditions demonstrated oligomerization via unpaired cysteines. Taken together, CEACAM16 can probably form higher order structures with other tectorial membrane proteins such as α-tectorin and β-tectorin and influences the physical properties of the tectorial membrane. Evolution of CEACAM16 might have been an important step for the specialization of the mammalian cochlea, allowing hearing over an extended frequency range. PMID:22544735

  8. [New recurrent extended deletion, including GJB2 and GJB6 genes, results in isolated sensorineural hearing impairment with autosomal recessive type of inheritance].

    PubMed

    Bliznets, E A; Makienko, O N; Okuneva, E G; Markova, T G; Poliakov, A V

    2014-04-01

    Hereditary hearing loss with the autosomal recessive type of inheritance of the DFNB 1 genetic type, caused by mutations in the GJB2 gene, is the main reason of innate non-syndromal hearing impairment in most developed countries of the world (including Russia). Intragenic point mutations prevail among the GJB2 gene defectors; however, extended deletions in the DFNB1 locus are also found with considerable frequency in some populations (for example, Spain, Great Britain, France, United States, and Brazil). Among the four known extended deletions, only one deletion affects directly the GJB2 gene sequence and was described in a single family. A new extended deletion in the GJB2 and GJB6 gene sequences (approximately 101 kb in size; NC_000013.10:g.20,757,021_20,858,394del), detected in three unrelated Russian patients, was described and characterized. Ingush origin of this mutation is assumed. If the new deletion is frequent, its detection is very important for the genetic consulting of families with hereditary hearing impairment. PMID:25715449

  9. Hearing Impairment Affects Dementia Incidence. An Analysis Based on Longitudinal Health Claims Data in Germany.

    PubMed

    Fritze, Thomas; Teipel, Stefan; Óvári, Attila; Kilimann, Ingo; Witt, Gabriele; Doblhammer, Gabriele

    2016-01-01

    Recent research has revealed an association between hearing impairment and dementia. The objective of this study is to determine the effect of hearing impairment on dementia incidence in a longitudinal study, and whether ear, nose, and throat (ENT) specialist care, care level, institutionalization, or depression mediates or moderates this pathway. The present study used a longitudinal sample of 154,783 persons aged 65 and older from claims data of the largest German health insurer; containing 14,602 incident dementia diagnoses between 2006 and 2010. Dementia and hearing impairment diagnoses were defined according to International Classification of Diseases, Tenth Revision, codes. We used a Kaplan Meier estimator and performed Cox proportional hazard models to explore the effect of hearing impairment on dementia incidence, controlling for ENT specialist care, care level, institutionalization, and depression. Gender, age, and comorbidities were controlled for as potential confounders. Patients with bilateral (HR = 1.43, p<0.001) and side-unspecified (HR = 1.20, p<0.001) hearing impairment had higher risks of dementia incidence than patients without hearing impairment. We found no significant effect for unilateral hearing impairment and other diseases of the ear. The effect of hearing impairment was only partly mediated through ENT specialist utilization. Significant interaction between hearing impairment and specialist care, care level, and institutionalization, respectively, indicated moderating effects. We discuss possible explanations for these effects. This study underlines the importance of the association between hearing impairment and dementia. Preserving hearing ability may maintain social participation and may reduce the burden associated with dementia. The particular impact of hearing aid use should be the subject of further investigations, as it offers potential intervention on the pathway to dementia. PMID:27391486

  10. Hearing Impairment Affects Dementia Incidence. An Analysis Based on Longitudinal Health Claims Data in Germany

    PubMed Central

    Teipel, Stefan; Óvári, Attila; Kilimann, Ingo; Witt, Gabriele; Doblhammer, Gabriele

    2016-01-01

    Recent research has revealed an association between hearing impairment and dementia. The objective of this study is to determine the effect of hearing impairment on dementia incidence in a longitudinal study, and whether ear, nose, and throat (ENT) specialist care, care level, institutionalization, or depression mediates or moderates this pathway. The present study used a longitudinal sample of 154,783 persons aged 65 and older from claims data of the largest German health insurer; containing 14,602 incident dementia diagnoses between 2006 and 2010. Dementia and hearing impairment diagnoses were defined according to International Classification of Diseases, Tenth Revision, codes. We used a Kaplan Meier estimator and performed Cox proportional hazard models to explore the effect of hearing impairment on dementia incidence, controlling for ENT specialist care, care level, institutionalization, and depression. Gender, age, and comorbidities were controlled for as potential confounders. Patients with bilateral (HR = 1.43, p<0.001) and side-unspecified (HR = 1.20, p<0.001) hearing impairment had higher risks of dementia incidence than patients without hearing impairment. We found no significant effect for unilateral hearing impairment and other diseases of the ear. The effect of hearing impairment was only partly mediated through ENT specialist utilization. Significant interaction between hearing impairment and specialist care, care level, and institutionalization, respectively, indicated moderating effects. We discuss possible explanations for these effects. This study underlines the importance of the association between hearing impairment and dementia. Preserving hearing ability may maintain social participation and may reduce the burden associated with dementia. The particular impact of hearing aid use should be the subject of further investigations, as it offers potential intervention on the pathway to dementia. PMID:27391486

  11. Spectral and binaural loudness summation for hearing-impaired listeners.

    PubMed

    Oetting, Dirk; Hohmann, Volker; Appell, Jens-E; Kollmeier, Birger; Ewert, Stephan D

    2016-05-01

    Sensorineural hearing loss typically results in a steepened loudness function and a reduced dynamic range from elevated thresholds to uncomfortably loud levels for narrowband and broadband signals. Restoring narrowband loudness perception for hearing-impaired (HI) listeners can lead to overly loud perception of broadband signals and it is unclear how binaural presentation affects loudness perception in this case. Here, loudness perception quantified by categorical loudness scaling for nine normal-hearing (NH) and ten HI listeners was compared for signals with different bandwidth and different spectral shape in monaural and in binaural conditions. For the HI listeners, frequency- and level-dependent amplification was used to match the narrowband monaural loudness functions of the NH listeners. The average loudness functions for NH and HI listeners showed good agreement for monaural broadband signals. However, HI listeners showed substantially greater loudness for binaural broadband signals than NH listeners: on average a 14.1 dB lower level was required to reach "very loud" (range 30.8 to -3.7 dB). Overall, with narrowband loudness compensation, a given binaural loudness for broadband signals above "medium loud" was reached at systematically lower levels for HI than for NH listeners. Such increased binaural loudness summation was not found for loudness categories below "medium loud" or for narrowband signals. Large individual variations in the increased loudness summation were observed and could not be explained by the audiogram or the narrowband loudness functions. PMID:27006003

  12. On the PC Interface for Hearing-Impaired

    NASA Astrophysics Data System (ADS)

    Kitamura, Mitsuhiro; Akiyama, Kouichi; Hama, Hiromitsu

    2002-12-01

    A human being takes in the outer world information by using the five senses, and lives. So he is forced very inconvenient life even when one sense is missing. Among others, it is said that the sense of hearing has importance next to the sight, but it is one of the organs which surely become weak with aging, and "hearing defect" is particularly the problem which all people face someday. But, technically and socially, the system which the person whose physical function is poor can entry into and contribute to the society is very important. In this research, the way of making up for a lost function by the medium change to the sense of touch information from the auditory information is examined, as a help that hearing-impaired gets "safety", "independence", "the tranquility of the heart" from the technical side. In this paper, as a concrete system, it paid attention to the mouse of the PC interface, and a vibration mouse was used under the environment which a PC was being used for, and thought about building of the system which can acquire the sound information of the life environment in real time.

  13. Binaural speech discrimination under noise in hearing-impaired listeners

    NASA Technical Reports Server (NTRS)

    Kumar, K. V.; Rao, A. B.

    1988-01-01

    This paper presents the results of an assessment of speech discrimination by hearing-impaired listeners (sensori-neural, conductive, and mixed groups) under binaural free-field listening in the presence of background noise. Subjects with pure-tone thresholds greater than 20 dB in 0.5, 1.0 and 2.0 kHz were presented with a version of the W-22 list of phonetically balanced words under three conditions: (1) 'quiet', with the chamber noise below 28 dB and speech at 60 dB; (2) at a constant S/N ratio of +10 dB, and with a background white noise at 70 dB; and (3) same as condition (2), but with the background noise at 80 dB. The mean speech discrimination scores decreased significantly with noise in all groups. However, the decrease in binaural speech discrimination scores with an increase in hearing impairment was less for material presented under the noise conditions than for the material presented in quiet.

  14. Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.

    PubMed

    Bakhchane, Amina; Bousfiha, Amale; Charoute, Hicham; Salime, Sara; Detsouli, Mustapha; Snoussi, Khalid; Nadifi, Sellama; Kabine, Mostafa; Rouba, Hassan; Dehbi, Hind; Roky, Rachida; Charif, Majida; Barakat, Abdelhamid

    2016-06-01

    Deafness is one of the most common genetic diseases in humans and is subject to important genetic heterogeneity. The most common cause of non syndromic hearing loss (NSHL) is mutations in the GJB2 gene. This study aims to update and evaluate the spectrum of GJB2 allele variants in 152 Moroccan multiplex families with non syndromic hearing loss. Seven different mutations were detected: c.35delG, p.V37I, p.E47X, p.G200R, p.Del120E, p.R75Q, the last three mutations were described for the first time in Moroccan deaf patients, in addition to a novel nonsense mutation, the c.385G>T which is not referenced in any database. Sixty six families (43.42%) have mutations in the coding region of GJB2, while the homozygous c.35delG mutation still to date the most represented 51/152 (33.55%). The analysis of the geographical distribution of mutations located in GJB2 gene showed more allelic heterogeneity in the north and center compared to the south of Morocco. Our results showed that the GJB2 gene is a major contributor to non syndromic hearing loss in Morocco. Thus, this report of the GJB2 mutations spectrum all over Morocco has an important implication for establishing a suitable molecular diagnosis. PMID:27169813

  15. Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia)

    PubMed Central

    Karafet, Tatiana M.; Morozov, Igor V.; Mikhalskaia, Valeriia Yu.; Zytsar, Marina V.; Bondar, Alexander A.

    2016-01-01

    Hearing loss (HL) is one of the most common sensorineural disorders and several dozen genes contribute to its pathogenesis. Establishing a genetic diagnosis of HL is of great importance for clinical evaluation of deaf patients and for estimating recurrence risks for their families. Efforts to identify genes responsible for HL have been challenged by high genetic heterogeneity and different ethnic-specific prevalence of inherited deafness. Here we present the utility of whole exome sequencing (WES) for identifying candidate causal variants for previously unexplained nonsyndromic HL of seven patients from four unrelated Altaian families (the Altai Republic, South Siberia). The WES analysis revealed homozygous missense mutations in three genes associated with HL. Mutation c.2168A>G (SLC26A4) was found in one family, a novel mutation c.1111G>C (OTOF) was revealed in another family, and mutation c.5254G>A (RAI1) was found in two families. Sanger sequencing was applied for screening of identified variants in an ethnically diverse cohort of other patients with HL (n = 116) and in Altaian controls (n = 120). Identified variants were found only in patients of Altaian ethnicity (n = 93). Several lines of evidences support the association of homozygosity for discovered variants c.5254G>A (RAI1), c.1111C>G (OTOF), and c.2168A>G (SLC26A4) with HL in Altaian patients. Local prevalence of identified variants implies possible founder effect in significant number of HL cases in indigenous population of the Altai region. Notably, this is the first reported instance of patients with RAI1 missense mutation whose HL is not accompanied by specific traits typical for Smith-Magenis syndrome. Presumed association of RAI1 gene variant c.5254G>A with isolated HL needs to be proved by further experimental studies. PMID:27082237

  16. Acquisition of hearing aids and assistive listening devices among the pediatric hearing-impaired population.

    PubMed

    Leake, F S; Thompson, J W; Simms, E; Bailey, J; Stocks, R M; Murphy, A M

    2000-05-30

    Sufficient access to health care is of concern to the indigent population in the US and to their health care providers. This study was undertaken to elucidate the rate of the follow-up among lower socioeconomic hearing-impaired pediatric patients who had received a recommendation for hearing aids and/or assistive listening devices. Our question was, would the families' financial situation have a negative effect on the acquisition of hearing aids and assistive listening devices? Fifty patients, age 0-18 years, who had been seen in our clinic over 2 years were evaluated via a telephone survey. The survey consisted of seven questions, including whether or not the devices or aids were obtained, what type was purchased, where the device was being used, and the child's apparent performance with the device. Eighty-two percent of our patients were on TennCare, a state mandated Medicaid HMO system. Two-thirds of these TennCare patients are at or below the poverty level and the remaining one-third is either disabled or uninsurable according to the Aid for Dependent Children (AFDC) with indeterminate income. In addition the TennCare organization did not cover hearing amplification equipment for these children. The study showed that the majority of the patients did follow-up as recommended. Furthermore, this equipment is easily obtainable for the pediatric indigent population due to financial resources available in the community outside the mandated Medicaid system. PMID:10841954

  17. MTHFR 677T Is a Strong Determinant of the Degree of Hearing Loss Among Polish Males with Postlingual Sensorineural Hearing Impairment

    PubMed Central

    Pollak, Agnieszka; Mueller-Malesinska, Malgorzata; Lechowicz, Urszula; Skorka, Agata; Korniszewski, Lech; Sobczyk-Kopciol, Agnieszka; Waskiewicz, Anna; Broda, Grazyna; Iwanicka-Pronicka, Katarzyna; Oldak, Monika; Skarzynski, Henryk

    2012-01-01

    Hearing impairment (HI) is the most common sensory handicap. Congenital HI often has a genetic basis, whereas the etiology of nonsyndromic postlingual HI (npHI) usually remains unidentified. Our purpose was to test whether the MTHFR C677T (rs1801133) polymorphism affecting folate metabolism is associated with the occurrence or severity of npHI. We studied rs1801133 genotypes in 647 npHI patients (age <40, sudden sensorineural loss excluded, HI characterized as mean of better ear hearing thresholds for 0.5–8 kHz) and 3273 adult controls from the background population. Genotype distribution among patients and controls was similar, but among male cases (n=302) we found a dose-dependent correlation of MTHFR 677T with the degree of HI (mean thresholds in dB: 38.8, 44.9, and 53.3, for CC, CT, and TT genotypes, respectively; p=0.0013, pcor.=0.017). Among male patients rs1801133 TT significantly increased the risk of severe/profound HI (odds ratio=4.88, p=0.001). Among controls the known effect of MTHFR 677T on plasma total homocysteine was more pronounced in men than in women (p<0.00004 for genotype-sex interaction) suggesting that in Poland folate deficiency is more prevalent in males. In conclusion, we report a novel strong effect of MTHFR 677T among males with npHI. The functional significance of rs1801133 suggests that these patients may benefit from folate supplementation—an intervention which is simple, cheap, and devoid of side effects. PMID:22424391

  18. Open-Set Word Identification by an Adult with Profound Hearing Impairment: Integration of Touch, Aided Hearing, and Speechreading.

    ERIC Educational Resources Information Center

    Lynch, Michael P.; And Others

    1992-01-01

    The ability of an adult with profound hearing impairment to integrate speech information from touch, aided hearing, and speechreading in identification of open-set words was investigated. Results indicated that the subject integrated speech information across modalities, with highest performance in the condition including speechreading plus aided…

  19. Coordination of Gaze and Speech in Communication between Children with Hearing Impairment and Normal-Hearing Peers

    ERIC Educational Resources Information Center

    Sandgren, Olof; Andersson, Richard; van de Weijer, Joost; Hansson, Kristina; Sahlén, Birgitta

    2014-01-01

    Purpose: To investigate gaze behavior during communication between children with hearing impairment (HI) and normal-hearing (NH) peers. Method: Ten HI-NH and 10 NH-NH dyads performed a referential communication task requiring description of faces. During task performance, eye movements and speech were tracked. Using verbal event (questions,…

  20. Working Memory as a Predictor of Reading Achievement in Orally Educated Hearing-Impaired Children.

    ERIC Educational Resources Information Center

    Daneman, Meredyth; And Others

    1995-01-01

    This study found that three measures of working memory capacity (processing and storage capacity, reading and listening span, and visual shape span) were good predictors of reading achievement in 30 orally educated children (ages 5 to 14) with hearing impairments as well as in an age-matched hearing control group. Degree of hearing loss did not…

  1. Vowel Identification by Listeners with Hearing Impairment in Response to Variation in Formant Frequencies

    ERIC Educational Resources Information Center

    Molis, Michelle R.; Leek, Marjorie R.

    2011-01-01

    Purpose: This study examined the influence of presentation level and mild-to-moderate hearing loss on the identification of a set of vowel tokens systematically varying in the frequency locations of their second and third formants. Method: Five listeners with normal hearing (NH listeners) and five listeners with hearing impairment (HI listeners)…

  2. Members of Faculty with Hearing Impairments in Academia: What Are Their Needs?

    ERIC Educational Resources Information Center

    Roufs, Kathleen S.

    2011-01-01

    Seventeen percent of adults in the United States suffer from some degree of hearing loss, and this impairment can pose considerable personal, professional, social, and psychological challenges, often, to people reluctant to seek help (Hearing Loss Association, 2011). Post-secondary faculty members with hearing loss are among us, and most of them…

  3. Social Interactions of Preschoolers with and without Impaired Hearing in Integrated Kindergarten.

    ERIC Educational Resources Information Center

    Brown, P. Margaret; Remine, Maria D.; Prescott, Sonia J.; Rickards, Field W.

    2000-01-01

    This study investigated the social competence of children with normal hearing (n=10) and children with impaired hearing (n=10) who attended an integrated preschool program for 4- to 5-year-olds. Observation of sociodramatic play and nonplay activities showed child entry behaviors were associated both with the hearing status of participants and…

  4. Mothers' Speech to Hearing-Impaired Infants and Children with Cochlear Implants

    ERIC Educational Resources Information Center

    Bergeson, Tonya R.; Miller, Rachel J.; McCune, Kasi

    2006-01-01

    This study investigated the effects of age, hearing loss, and cochlear implantation on mothers' speech to infants and children. We recorded normal-hearing (NH) mothers speaking to their children as they typically would do at home and speaking to an adult experimenter. Nine infants (10-37 months) were hearing-impaired and had used a cochlear…

  5. Spoken and Written Narratives in Swedish Children and Adolescents with Hearing Impairment

    ERIC Educational Resources Information Center

    Asker-Arnason, Lena; Akerlund, Viktoria; Skoglund, Cecilia; Ek-Lagergren, Ingela; Wengelin, Asa; Sahlen, Birgitta

    2012-01-01

    Twenty 10- to 18-year-old children and adolescents with varying degrees of hearing impairment (HI) and hearing aids (HA), ranging from mild-moderate to severe, produced picture-elicited narratives in a spoken and written version. Their performance was compared to that of 63 normally hearing (NH) peers within the same age span. The participants…

  6. Opening Ears to the Performing Arts: A Guide to Serving the Hearing Impaired.

    ERIC Educational Resources Information Center

    Spero, Ruth L.; And Others

    Intended for coordinators of performing arts organizations who want to make their programs accessible to hearing impaired persons, the booklet presents a general overview of Project HEAR (Hearing Electronics Arts Research) and step-by-step instructions for establishing an access program. Information is provided in question-and-answer format. An…

  7. Affective Properties of Mothers' Speech to Infants with Hearing Impairment and Cochlear Implants

    ERIC Educational Resources Information Center

    Kondaurova, Maria V.; Bergeson, Tonya R.; Xu, Huiping; Kitamura, Christine

    2015-01-01

    Purpose: The affective properties of infant-directed speech influence the attention of infants with normal hearing to speech sounds. This study explored the affective quality of maternal speech to infants with hearing impairment (HI) during the 1st year after cochlear implantation as compared to speech to infants with normal hearing. Method:…

  8. Speech pattern hearing aids for the profoundly hearing impaired: speech perception and auditory abilities.

    PubMed

    Faulkner, A; Ball, V; Rosen, S; Moore, B C; Fourcin, A

    1992-04-01

    A family of prototype speech pattern hearing aids for the profoundly hearing impaired has been compared to amplification. These aids are designed to extract acoustic speech patterns that convey essential phonetic contrasts, and to match this information to residual receptive abilities. In the first study, the presentation of voice fundamental frequency information from a wearable SiVo (sinusoidal voice) aid was compared to amplification in 11 profoundly deafened adults. Intonation reception was often better, and never worse, with fundamental frequency information. Four subjects scored more highly in audio-visual consonant identification with fundamental frequency information, five performed better with amplified speech, and two performed similarly under these two conditions. Five of the 11 subjects continued use of the SiVo aid after the tests were complete. A second study examined a laboratory prototype compound speech pattern aid, which encoded voice fundamental frequency, amplitude envelope, and the presence of voiceless excitation. In five profoundly deafened adults, performance was better in consonant identification when additional speech patterns were present than with fundamental frequency alone; the main advantage was derived from amplitude information. In both consonant identification and connected discourse tracking, performance with appropriately matched compound speech pattern signals was better than with amplified speech in three subjects, and similar to performance with amplified speech in the other two. In nine subjects, frequency discrimination, gap detection, and frequency selectivity were measured, and were compared to speech receptive abilities with both amplification and fundamental frequency presentation. The subjects who showed the greatest advantage from fundamental frequency presentation showed the greatest average hearing losses, and the least degree of frequency selectivity. Compound speech pattern aids appear to be more effective for some

  9. Dialogue enabling speech-to-text user assistive agent system for hearing-impaired person.

    PubMed

    Lee, Seongjae; Kang, Sunmee; Han, David K; Ko, Hanseok

    2016-06-01

    A novel approach for assisting bidirectional communication between people of normal hearing and hearing-impaired is presented. While the existing hearing-impaired assistive devices such as hearing aids and cochlear implants are vulnerable in extreme noise conditions or post-surgery side effects, the proposed concept is an alternative approach wherein spoken dialogue is achieved by means of employing a robust speech recognition technique which takes into consideration of noisy environmental factors without any attachment into human body. The proposed system is a portable device with an acoustic beamformer for directional noise reduction and capable of performing speech-to-text transcription function, which adopts a keyword spotting method. It is also equipped with an optimized user interface for hearing-impaired people, rendering intuitive and natural device usage with diverse domain contexts. The relevant experimental results confirm that the proposed interface design is feasible for realizing an effective and efficient intelligent agent for hearing-impaired. PMID:26753778

  10. Determination of Hearing-Impaired Students' Requirements for Editing and Revision of Written Texts

    ERIC Educational Resources Information Center

    Karasu, H. Pelin

    2014-01-01

    The editing and revision stages are an important part of the writing process. This study documented the types of revisions, revision units, and revision methods used during writing conferences with hearing-impaired students. The study included seventeen hearing-impaired students educated with the auditory/oral approach and enrolled in grades six…