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Sample records for nonsyndromic deafness dfna25

  1. CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

    OpenAIRE

    Astuto, L. M.; Bork, J. M.; Weston, M. D.; Askew, J. W.; Fields, R. R.; Orten, D. J.; Ohliger, S. J.; Riazuddin, S.; Morell, R. J.; Khan, S.; Riazuddin, S.; Kremer, H.; van Hauwe, P.; Moller, C. G.; Cremers, C. W. R. J.

    2002-01-01

    Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with multiple cadherin-like domains, are responsible for both Usher syndrome and DFNB12 nonsyndromic deaf...

  2. Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.

    Science.gov (United States)

    Winata, S; Arhya, I N; Moeljopawiro, S; Hinnant, J T; Liang, Y; Friedman, T B; Asher, J H

    1995-01-01

    Bengkala is an Indonesian village located on the north shore of Bali that has existed for over 700 years. Currently, 2.2% of the 2185 people in this village have profound congenital deafness. In response to the high incidence of deafness, the people of Bengkala have developed a village specific sign language which is used by many of the hearing and deaf people. Deafness in Bengkala is congenital, sensorineural, non-syndromal, and caused by a fully penetrant autosomal recessive mutation at the DFNB3 locus. The frequency of the DFNB3 mutation is estimated to be 9.4% among hearing people who have a 17.2% chance of being heterozygous for DFNB3. PMID:7616538

  3. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

    Science.gov (United States)

    Ahmed, Zubair M; Smith, Tenesha N; Riazuddin, Saima; Makishima, Tomoko; Ghosh, Manju; Bokhari, Sirosh; Menon, Puthezhath S N; Deshmukh, Dilip; Griffith, Andrew J; Riazuddin, Sheikh; Friedman, Thomas B; Wilcox, Edward R

    2002-06-01

    Human chromosome 11 harbors two Usher type I loci, USHIB and USHIC, which encode myosin VIIA and harmonin, respectively. The USHIC locus overlaps the reported critical interval for nonsyndromic deafness locus DFNB18. We found an IVS12+5G-->C mutation in the USHIC gene, which is associated with nonsyndromic recessive deafness ( DFNB18) segregating in the original family, S-11/12. No other disease-associated mutation was found in the other 27 exons or in the intron-exon boundaries, and the IVS12+5G-->C mutation was not present in 200 representative unaffected individuals ascertained from the same area of India. An exon-trapping assay with a construct harboring IVS12+5G-->C generated wildtype spliced mRNA having exons 11 and 12 and mRNA that skipped exon 12. We conclude that mutations of USHIC can cause both Usher syndrome type IC and nonsyndromic recessive deafness DFNB18.

  4. Refinement of the locus for non-syndromic sensorineural deafness ...

    Indian Academy of Sciences (India)

    Unknown

    2004-04-05

    Apr 5, 2004 ... GANG PEI 1,2 , XIANGYIN KONG 1 and LANDIAN HU 1 *. 1Health Science Center ... ever, a further study of the same family revealed that deafness was ... ment with ototoxic drugs, or ear infections, was excluded. There was no .... ness syndrome with blindness, dystonia, fractures, and mental deficiency is ...

  5. Mutation analysis of GJB2 gene and prenatal diagnosis in a non-syndromic deafness family

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    Xiao-hua CHEN

    2014-08-01

    Full Text Available Objective To identify the pathogenic gene in a non-syndromic deafness family, provide an accurate genetic consultation and early intervention for deaf family to reduce the incidence of congenital deafness. Methods Mutation analysis was carried out by polymerase chain reaction followed by DNA sequencing of coding region of GJB2 gene. The fetal DNA was extracted from the amniotic fluid cells by amniocentesis at 20 weeks during pregnancy. The genotype of the fetus was characterized for predicting the status of hearing. Results Complex heterozygous mutations 235delC and 176-191del16bp were detected in the proband of the family, heterozygous mutation 176-191del16bp was detected in the father, and 235delC was detected in the mother. Fetus carried 235delC heterozygous mutation inherited from his mother. Conclusions The proband's hearing loss is resulted from the complex heterozygous mutations 235delC and 176-191del16bp in GJB2 gene. Fetus is a heterozygous mutation 235delC carrier. Prenatal diagnosis for deafness assisted by genetic test can provide efficient guidance about offspring's hearing condition, and prevent another deaf-mute member from birth. DOI: 10.11855/j.issn.0577-7402.2014.07.09

  6. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

    NARCIS (Netherlands)

    Astuto, L.M.; Bork, J.M.; Weston, M.D.; Askew, J.W.; Fields, R.R.; Orten, D.J.; Ohliger, S.J.; Riazuddin, S.; Morell, R.J.; Khan, S.; Kremer, J.M.J.; Hauwe, P. van; Moller, C.G.; Cremers, C.W.R.J.; Ayuso, C.; Heckenlively, J.R.; Rohrschneider, K.; Spandau, U.; Greenberg, J.; Ramesar, R.S.; Reardon, W.; Bitoun, P.; Millan, J.; Legge, R.; Friedman, T.B.; Kimberling, W.J.

    2002-01-01

    Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness

  7. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

    Science.gov (United States)

    Astuto, L M; Bork, J M; Weston, M D; Askew, J W; Fields, R R; Orten, D J; Ohliger, S J; Riazuddin, S; Morell, R J; Khan, S; Riazuddin, S; Kremer, H; van Hauwe, P; Moller, C G; Cremers, C W R J; Ayuso, C; Heckenlively, J R; Rohrschneider, K; Spandau, U; Greenberg, J; Ramesar, R; Reardon, W; Bitoun, P; Millan, J; Legge, R; Friedman, T B; Kimberling, W J

    2002-08-01

    Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with multiple cadherin-like domains, are responsible for both Usher syndrome and DFNB12 nonsyndromic deafness. Specific CDH23 mutational defects have been identified that differentiate these two phenotypes. Only missense mutations of CDH23 have been observed in families with nonsyndromic deafness, whereas nonsense, frameshift, splice-site, and missense mutations have been identified in families with Usher syndrome. In the present study, a panel of 69 probands with Usher syndrome and 38 probands with recessive nonsyndromic deafness were screened for the presence of mutations in the entire coding region of CDH23, by heteroduplex, single-strand conformation polymorphism, and direct sequence analyses. A total of 36 different CDH23 mutations were detected in 45 families; 33 of these mutations were novel, including 18 missense, 3 nonsense, 5 splicing defects, 5 microdeletions, and 2 insertions. A total of seven mutations were common to more than one family. Numerous exonic and intronic polymorphisms also were detected. Results of ophthalmologic examinations of the patients with nonsyndromic deafness have found asymptomatic RP-like manifestations, indicating that missense mutations may have a subtle effect in the retina. Furthermore, patients with mutations in CDH23 display a wide range of hearing loss and RP phenotypes, differing in severity, age at onset, type, and the presence or absence of vestibular areflexia.

  8. CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

    Science.gov (United States)

    Astuto, L. M.; Bork, J. M.; Weston, M. D.; Askew, J. W.; Fields, R. R.; Orten, D. J.; Ohliger, S. J.; Riazuddin, S.; Morell, R. J.; Khan, S.; Riazuddin, S.; Kremer, H.; van Hauwe, P.; Moller, C. G.; Cremers, C. W. R. J.; Ayuso, C.; Heckenlively, J. R.; Rohrschneider, K.; Spandau, U.; Greenberg, J.; Ramesar, R.; Reardon, W.; Bitoun, P.; Millan, J.; Legge, R.; Friedman, T. B.; Kimberling, W. J.

    2002-01-01

    Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with multiple cadherin-like domains, are responsible for both Usher syndrome and DFNB12 nonsyndromic deafness. Specific CDH23 mutational defects have been identified that differentiate these two phenotypes. Only missense mutations of CDH23 have been observed in families with nonsyndromic deafness, whereas nonsense, frameshift, splice-site, and missense mutations have been identified in families with Usher syndrome. In the present study, a panel of 69 probands with Usher syndrome and 38 probands with recessive nonsyndromic deafness were screened for the presence of mutations in the entire coding region of CDH23, by heteroduplex, single-strand conformation polymorphism, and direct sequence analyses. A total of 36 different CDH23 mutations were detected in 45 families; 33 of these mutations were novel, including 18 missense, 3 nonsense, 5 splicing defects, 5 microdeletions, and 2 insertions. A total of seven mutations were common to more than one family. Numerous exonic and intronic polymorphisms also were detected. Results of ophthalmologic examinations of the patients with nonsyndromic deafness have found asymptomatic RP–like manifestations, indicating that missense mutations may have a subtle effect in the retina. Furthermore, patients with mutations in CDH23 display a wide range of hearing loss and RP phenotypes, differing in severity, age at onset, type, and the presence or absence of vestibular areflexia. PMID:12075507

  9. DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.

    Science.gov (United States)

    Khan, Shahid Yar; Riazuddin, Saima; Shahzad, Mohsin; Ahmed, Nazir; Zafar, Ahmad Usman; Rehman, Atteeq Ur; Morell, Robert J; Griffith, Andrew J; Ahmed, Zubair M; Riazuddin, Sheikh; Friedman, Thomas B

    2010-01-01

    Genetic analysis of an inbred Pakistani family PKDF280, segregating prelingual severe to profound sensorineural hearing loss, provided evidence for a DFNB locus on human chromosome 9q34.3. Co-segregation of the deafness trait with marker D9SH159 was determined by a two-point linkage analysis (LOD score 9.43 at theta=0). Two additional large families, PKDF517 and PKDF741, co-segregate recessive deafness with markers linked to the same interval. Haplotype analyses of these three families refined the interval to 3.84 Mb defined by D9S1818 (centromeric) and D9SH6 (telomeric). This interval overlaps with the previously reported DFNB33 locus whose chromosomal map position has been recently revised and assigned to a new position on chromosome 10p11.23-q21.1. The nonsyndromic deafness locus on chromosome 9q segregating in family PKDF280 was designated DFNB79. We are currently screening the 113 candidate DFNB79 genes for mutations and have excluded CACNA1B, EDF1, PTGDS, EHMT1, QSOX2, NOTCH1, MIR126 and MIR602.

  10. Non-syndromic sensorineural prelingual deafness: the importance of genetic counseling in demystifying parents' beliefs about the cause of their children's deafness.

    Science.gov (United States)

    Rodrigues, Fidjy; Paneque, Milena; Reis, Cláudia; Venâncio, Margarida; Sequeiros, Jorge; Saraiva, Jorge

    2013-08-01

    Recent advances in molecular genetics have allowed the determination of the genetic cause of some childhood non-syndromic deafness. In Portugal only a small proportion of families are referred to a clinical genetics service in order to clarify the etiology of the deafness and to provide genetic counseling. Consequently, there are no published studies of the prior beliefs of parents about the causes of hereditary deafness of their children and their genetic knowledge after receipt of genetic counseling. In order to evaluate the impact of genetic counseling, 44 parents of 24 children with the diagnosis of non-syndromic sensorineural prelingual deafness due to mutations in the GJB2 (connexin 26), completed surveys before and after genetic counseling. Before counseling 13.6 % of the parents knew the cause of deafness; at a post-counseling setting this percentage was significantly higher, with 84.1 % of the parents accurately identifying the etiology. No significant differences were found between the answers of mothers and fathers either before or after genetic counseling. Parents' level of education was a significant factor in pre-test knowledge. After genetic counseling 95.5 % of the parents stated that the consultation had met their expectations, 70.5 % remembered correctly the inheritance pattern, and 93.2 % correctly recalled the chance of risk of deafness. These results underline the importance of genetic counseling in demystifying parents' beliefs about the etiology of their children's deafness.

  11. Genetic mutations in non-syndromic deafness patients of uyghur and han chinese ethnicities in xinjiang, China: a comparative study

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    Kuyaxi Pilidong

    2011-09-01

    Full Text Available Abstract Background The deafness-associated gene mutation profile varies greatly among regions and races. Due to the multi-ethnic coalition of over one thousand years, non-syndromic deafness (NSD patients of Uyghur ethnicity may exhibit a unique deafness-associated gene mutation spectrum as compared to Han Chinese deaf population. Methods In order to characterize nine loci of four deafness-associated genes of Uyghur NSD patients in comparison with Chinese Han deaf population, NSD patients (n = 350 were enrolled, including Uyghur (n = 199 and Han Chinese (n = 151. Following the history taking, blood samples were collected for DNA extraction. DNA microarray was performed on nine loci of four deafness-associated genes, including 35delG, 176-191del16, 235delC, 299-300delAT, 538C > T, 1555A > G, 1494C > T, 2168A > G, and IVS7-2A > G. The samples that showed the absence of both wild and mutant probe signals were tested for further DNA sequencing analysis. Results The mutations in the nine loci of prevalent deafness-associated genes were detected in 13.06% of Uyghur NSD patients and 32.45% of Han Chinese patients (P GJB2 mutation was detected in 9.05% of Uyghur patients and 16.56% of Han Chinese patients (P > 0.05, respectively. 235delC was the hotspot mutation region in NSD patients of the two ethnicities, whereas 35delG was the mutation hotspot in Uyghur patients. 187delG mutation was detected for the first time in Uyghur NSD patients and considered as an unreported pathological variant of GJB2. SLC26A4 mutation was found in 2.01% of Uyghur patients and 14.57% of Han Chinese patients (P P > 0.05, respectively. The NSD patients exhibited a low frequency of GJB3 mutation regardless of ethnicity. Conclusion Prevalent deafness-associated gene mutations in the nine loci studied were less frequently detected in Uyghur NSD patients than in Han Chinese patients. GJB2 was the most common mutant gene in the two ethnicities, whilst the two ethnicities differed

  12. Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

    Science.gov (United States)

    Ahmed, Zubair M; Riazuddin, Saima; Aye, Sandar; Ali, Rana A; Venselaar, Hanka; Anwar, Saima; Belyantseva, Polina P; Qasim, Muhammad; Riazuddin, Sheikh; Friedman, Thomas B

    2008-10-01

    Mutations of PCDH15, encoding protocadherin 15, can cause either combined hearing and vision impairment (type 1 Usher syndrome; USH1F) or nonsyndromic deafness (DFNB23). Human PCDH15 is reported to be composed of 35 exons and encodes a variety of isoforms with 3-11 ectodomains (ECs), a transmembrane domain and a carboxy-terminal cytoplasmic domain (CD). Building on these observations, we describe an updated gene structure that has four additional exons of PCDH15 and isoforms that can be subdivided into four classes. Human PCDH15 encodes three alternative, evolutionarily conserved unique cytoplasmic domains (CD1, CD2 or CD3). Families ascertained on the basis of prelingual hearing loss were screened for linkage of this phenotype to markers for PCDH15 on chromosome 10q21.1. In seven of twelve families segregating USH1, we identified homozygous mutant alleles (one missense, one splice site, three nonsense and two deletion mutations) of which six are novel. One family was segregating nonsyndromic deafness DFNB23 due to a homozygous missense mutation. To date, in our cohort of 557 Pakistani families, we have found 11 different PCDH15 mutations that account for deafness in 13 families. Molecular modeling provided mechanistic insight into the phenotypic variation in severity of the PCDH15 missense mutations. We did not find pathogenic mutations in five of the twelve USH1 families linked to markers for USH1F, which suggest either the presence of mutations of yet additional undiscovered exons of PCDH15, mutations in the introns or regulatory elements of PCDH15, or an additional locus for type I USH at chromosome 10q21.1.

  13. Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

    Science.gov (United States)

    Schultz, Julie M; Bhatti, Rashid; Madeo, Anne C; Turriff, Amy; Muskett, Julie A; Zalewski, Christopher K; King, Kelly A; Ahmed, Zubair M; Riazuddin, Saima; Ahmad, Nazir; Hussain, Zawar; Qasim, Muhammad; Kahn, Shaheen N; Meltzer, Meira R; Liu, Xue Z; Munisamy, Murali; Ghosh, Manju; Rehm, Heidi L; Tsilou, Ekaterini T; Griffith, Andrew J; Zein, Wadih M; Brewer, Carmen C; Riazuddin, Sheikh; Friedman, Thomas B

    2011-11-01

    Recessive mutant alleles of MYO7A, USH1C, CDH23, and PCDH15 cause non-syndromic deafness or type 1 Usher syndrome (USH1) characterised by deafness, vestibular areflexia, and vision loss due to retinitis pigmentosa. For CDH23, encoding cadherin 23, non-syndromic DFNB12 deafness is associated primarily with missense mutations hypothesised to have residual function. In contrast, homozygous nonsense, frame shift, splice site, and some missense mutations of CDH23, all of which are presumably functional null alleles, cause USH1D. The phenotype of a CDH23 compound heterozygote for a DFNB12 allele in trans configuration to an USH1D allele is not known and cannot be predicted from current understanding of cadherin 23 function in the retina and vestibular labyrinth. To address this issue, this study sought CDH23 compound heterozygotes by sequencing this gene in USH1 probands, and families segregating USH1D or DFNB12. Five non-syndromic deaf individuals were identified with normal retinal and vestibular phenotypes that segregate compound heterozygous mutations of CDH23, where one mutation is a known or predicted USH1 allele. One DFNB12 allele in trans configuration to an USH1D allele of CDH23 preserves vision and balance in deaf individuals, indicating that the DFNB12 allele is phenotypically dominant to an USH1D allele. This finding has implications for genetic counselling and the development of therapies for retinitis pigmentosa in Usher syndrome. ACCESSION NUMBERS: The cDNA and protein Genbank accession numbers for CDH23 and cadherin 23 used in this paper are AY010111.2 and AAG27034.2, respectively.

  14. Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.

    Science.gov (United States)

    Doucette, Lance; Merner, Nancy D; Cooke, Sandra; Ives, Elizabeth; Galutira, Dante; Walsh, Vanessa; Walsh, Tom; MacLaren, Linda; Cater, Tracey; Fernandez, Bridget; Green, Jane S; Wilcox, Edward R; Shotland, Lawrence I; Shotland, Larry; Li, Xiaoyan Cindy; Li, X C; Lee, Ming; King, Mary-Claire; Young, Terry-Lynn

    2009-05-01

    We studied a consanguineous family (Family A) from the island of Newfoundland with an autosomal recessive form of prelingual, profound, nonsyndromic sensorineural hearing loss. A genome-wide scan mapped the deafness trait to 10q21-22 (max LOD score of 4.0; D10S196) and fine mapping revealed a 16 Mb ancestral haplotype in deaf relatives. The PCDH15 gene was mapped within the critical region and was an interesting candidate because truncating mutations cause Usher syndrome type IF (USH1F) and two missense mutations have been previously associated with isolated deafness (DFNB23). Sequencing of the PCDH15 gene revealed 33 sequencing variants. Three of these variants were homozygous exclusively in deaf siblings but only one of them was not seen in ethnically matched controls. This novel c.1583 T>A transversion predicts an amino-acid substitution of a valine with an aspartic acid at codon 528 (V528D). Like the two DFNB23 mutations, the V528D mutation in Family A occurs in a highly conserved extracellular cadherin (EC) domain of PCDH15 and is predicted to be more deleterious than the previously identified DFNB23 missense mutations (R134G and G262D). Physical assessment, vestibular and visual function testing in deaf adults ruled out syndromic deafness because of Usher syndrome. This study validates the DFNB23 designation and supports the hypothesis that missense mutations in conserved motifs of PCDH15 cause nonsyndromic hearing loss. This emerging genotype-phenotype correlation in USH1F is similar to that in several other USH1 genes and cautions against a prognosis of a dual sensory loss in deaf children found to be homozygous for hypomorphic mutations at the USH1F locus.

  15. Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.

    Science.gov (United States)

    Coyle, B; Coffey, R; Armour, J A; Gausden, E; Hochberg, Z; Grossman, A; Britton, K; Pembrey, M; Reardon, W; Trembath, R

    1996-04-01

    Inherited causes account for about 50% of individuals presenting with childhood (prelingual) hearing loss, of which 70% are due to mutation in numerous single genes which impair auditory function alone (non-syndromic). The remainder are associated with other developmental anomalies termed syndromic deafness. Genes responsible for syndromic forms of hearing loss include the COL4A5 gene in Alport syndrome and the PAX3 and MITF genes in Waardenburg syndrome. Pendred syndrome is an autosomal recessive disorder associated with developmental abnormalities of the cochlea, sensorineural hearing loss and diffuse thyroid enlargement (goitre). Pendred syndrome is the most common syndromal form of deafness, yet the primary defect remains unknown. We have established a panel of 12 families with two or more affected individuals and used them to search for the location of the Pendred gene by linkage analysis. We excluded localization to four previously mapped nonsyndromic deafness loci but obtained conclusive evidence for linkage of the Pendred syndrome gene to microsatellite markers on chromosome 7q31 (D7S495 Zmax 7.32, Qmax = 0). This region contains a gene, DFNBL, for autosomal recessive non-syndromic sensorineural hearing loss. Multipoint analysis indicates that DFNB4 and Pendred syndrome co-localize to the same 5.5 centiMorgan (cM) interval flanked by D7S501 and D7S523. These data raise the possibility that Pendred syndrome is either allelic with DFNB4 or may represent an inherited contiguous gene disorder, not clinically manifest in the heterozygote.

  16. A systematic search for linkage with nonsyndromic recessive deafness in two large Middle Eastern inbred kindreds excludes more than 30% of the genome

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    Weiss, S.; Korostishevsky, M. [Sackler Faculty of Medicine, Ramat-Aviv (Israel); Frydman, M. [Haim Sheba Medical Center, Tel-Hashomer (Israel)] [and others

    1994-09-01

    It has been estimated that as many as 35 loci may individually cause autosomal recessive non-syndromic deafness. The extreme genetic heterogeneity, limited clinical differentiation and phenotypic assortative mating in many western countries make many families unsuitable for genetic linkage studies. Recently the first of those loci was mapped (to 13q) in two consanguineous families from northern Tunisia. We are studying two large highly consanguineous Middle Eastern kindreds (a total of 26 deaf in 98 sampled individuals). Examination in each family showed no evidence of clinical heterogeneity and indicated an uncomplicated profound bilateral sensorineural deafness. We have been able to exclude the 13q locus as the cause of deafness in each kindred and have also excluded such `candidate` loci as regions as those causing Usher`s syndrome type 1 (11q13)(11p), Usher`s syndrome type II (1q32-q41), Waardenburg syndrome type I (2q37), branchio-oto-renal syndrome (8q12-q13), Monge`s deafness (5q31), and Treacher Collins syndrome (5q31.3-q33.3). To date, no lod scores greater than 1 have been obtained in either kindred using 150 RFLT`s, VNTR`s and highly polymorphic microsatellite markers (CA repeats and tetranucleotides). By Morton`s criterion a minimum of 30% of the autosomal genome can be excluded for each kindred separately.

  17. Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

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    Shotland Lawrence I

    2004-09-01

    Full Text Available Abstract Background Mutant alleles of TMPRSS3 are associated with nonsyndromic recessive deafness (DFNB8/B10. TMPRSS3 encodes a predicted secreted serine protease, although the deduced amino acid sequence has no signal peptide. In this study, we searched for mutant alleles of TMPRSS3 in families from Pakistan and Newfoundland with recessive deafness co-segregating with DFNB8/B10 linked haplotypes and also more thoroughly characterized the genomic structure of TMPRSS3. Methods We enrolled families segregating recessive hearing loss from Pakistan and Newfoundland. Microsatellite markers flanking the TMPRSS3 locus were used for linkage analysis. DNA samples from participating individuals were sequenced for TMPRSS3. The structure of TMPRSS3 was characterized bioinformatically and experimentally by sequencing novel cDNA clones of TMPRSS3. Results We identified mutations in TMPRSS3 in four Pakistani families with recessive, nonsyndromic congenital deafness. We also identified two recessive mutations, one of which is novel, of TMPRSS3 segregating in a six-generation extended family from Newfoundland. The spectrum of TMPRSS3 mutations is reviewed in the context of a genotype-phenotype correlation. Our study also revealed a longer isoform of TMPRSS3 with a hitherto unidentified exon encoding a signal peptide, which is expressed in several tissues. Conclusion Mutations of TMPRSS3 contribute to hearing loss in many communities worldwide and account for 1.8% (8 of 449 of Pakistani families segregating congenital deafness as an autosomal recessive trait. The newly identified TMPRSS3 isoform e will be helpful in the functional characterization of the full length protein.

  18. X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

    NARCIS (Netherlands)

    Synofzik, Matthis; Müller Vom Hagen, Jennifer; Haack, Tobias B.; Wilhelm, Christian; Lindig, Tobias; Beck-Wödl, Stefanie; Nabuurs, Sander B.; van Kuilenburg, André B. P.; de Brouwer, Arjan P. M.; Schöls, Ludger

    2014-01-01

    X-linked Charcot-Marie-Tooth disease type 5 (CMTX5), Arts syndrome, and non-syndromic sensorineural deafness (DFN2) are allelic syndromes, caused by reduced activity of phosphoribosylpyrophosphate synthetase 1 (PRS-I) due to loss-of-function mutations in PRPS1. As only few families have been

  19. Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

    NARCIS (Netherlands)

    Seco, C.Z.; Giese, A.P.; Shafique, S.; Schraders, M.; Oonk, A.M.; Grossheim, M.; Oostrik, J.; Strom, T.; Hegde, R.; WIjk, E. van; Frolenkov, G.I.; Azam, M.; Yntema, H.G.; Free, R.H.; Riazuddin, S.; Verheij, J.B.; Admiraal, R.J.; Qamar, R.; Ahmed, Z.M.; Kremer, H.

    2016-01-01

    Variants in CIB2 can underlie either Usher syndrome type I (USH1J) or nonsyndromic hearing impairment (NSHI) (DFNB48). Here, a novel homozygous missense variant c.196C>T and compound heterozygous variants, c.[97C>T];[196C>T], were found, respectively, in two unrelated families of Dutch origin.

  20. Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

    NARCIS (Netherlands)

    Seco, Celia Zazo; Giese, Arnaud P.; Shafique, Sobia; Schraders, Margit; Oonk, Anne M. M.; Grossheim, Mike; Oostrik, Jaap; Strom, Tim; Hegde, Rashmi; van Wijk, Erwin; Frolenkov, Gregory I.; Azam, Maleeha; Yntema, Helger G.; Free, Rolien H.; Riazuddin, Saima; Verheij, Joke B. G. M.; Admiraal, Ronald J.; Qamar, Raheel; Ahmed, Zubair M.; Kremer, Hannie

    Variants in CIB2 can underlie either Usher syndrome type I (USH1J) or nonsyndromic hearing impairment (NSHI) (DFNB48). Here, a novel homozygous missense variant c.196C>T and compound heterozygous variants, c.[97C>T];[196C>T], were found, respectively, in two unrelated families of Dutch origin.

  1. A 7666-bp genomic deletion is frequent in Chinese Han deaf patients with non-syndromic enlarged vestibular aqueduct but without bi-allelic SLC26A4 mutations.

    Science.gov (United States)

    Pang, Xiuhong; Chai, Yongchuan; He, Longxia; Chen, Penghui; Wang, Xiaowen; Li, Lei; Jia, Huan; Wu, Hao; Yang, Tao

    2015-12-01

    To investigate the genetic cause of the patients with non-syndromic enlarged vestibular aqueduct (EVA) but without bi-allelic SLC26A4 mutations. Presence of a homozygous genomic deletion was detected in a Chinese Han deaf patient (D1467-1) who failed to amplify the first three exons of SLC26A4. The breakpoints of the deletion were fine-mapped and revealed by PCR amplification and sequencing. This deletion was subsequently screened in 22 Chinese Han EVA probands with mono-allelic SLC26A4 mutations. The possible founder effect of the newly identified genomic deletion was evaluated by haplotype analysis. A homozygous c.-2071_307+3801del7666 deletion of SLC26A4 was identified in patient D1467-1. This novel genomic deletion was subsequently identified in 18% (4/22) of the Chinese Han EVA probands with mono-allelic SLC26A4 mutations. Haplotype analysis showed that this genomic deletion is likely a founder mutation in Chinese Hans. Our results suggested that the cryptic c.-2071_307+3801del7666 deletion of SLC26A4 is relatively frequent in Chinese Han non-syndromic EVA patients without bi-allelic SLC26A4 mutations. Screening of this genomic deletion should be incorporated into the routine DNA testing of SLC26A4 in Chinese Hans. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  2. A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and Limb-Girdle muscular dystrophy type 2C (LGMD2C)

    Energy Technology Data Exchange (ETDEWEB)

    Guilford, P.; Crozet, F.; Blanchard, S. [Institut Pasteur, Paris (France)] [and others

    1995-09-01

    Two forms of inherited childhood nonsyndromic deafness (DFNB1 and DFNA3) and a Duchenne-like form of progressive muscular dystrophy (LGMD2C) have been mapped to the pericentromeric region of chromosome 13. To clone the genes responsible for these diseases we constructed a yeast artificial chromosome (YAC) contig spanning an 8-cM region between the polymorphic markers D13S221. The contig comprises 24 sequence-tagged sites, among which 15 were newly obtained. This contig allowed us to order the polymorphic markers centromere- D13S175-D13S141-D13S143-D13S115-AFM128yc1-D13S292-D13S283-AFM323vh5-D13S221-telomere. Eight expressed sequence tags, previously assigned to 13q11-q12 (D13S182E, D13S183E, D13S502E, D13S504E, D13S505E, D13S837E, TUBA2, ATP1AL1), were localized on the YAC contig. YAC screening of a cDNA library derived from mouse cochlea allowed us to identify an {alpha}-tubulin gene (TUBA2) that was subsequently precisely mapped within the candidate region. 36 refs., 2 figs., 2 tabs.

  3. Genetics Home Reference: nonsyndromic holoprosencephaly

    Science.gov (United States)

    ... brain divides into two halves ( hemispheres ) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. This condition is called nonsyndromic to distinguish ...

  4. Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting

    DEFF Research Database (Denmark)

    Chen, Neng; Tranebjærg, Lisbeth; Rendtorff, Nanna Dahl

    2011-01-01

    Pendred syndrome and DFNB4 (autosomal recessive nonsyndromic congenital deafness, locus 4) are associated with autosomal recessive congenital sensorineural hearing loss and mutations in the SLC26A4 gene. Extensive allelic heterogeneity, however, necessitates analysis of all exons and splice sites...

  5. Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.

    Directory of Open Access Journals (Sweden)

    Qi Wang

    Full Text Available By analyzing the different phenotypes of two Chinese DFNA9 families with the same mutation located in the intervening region between the LCCL and vWFA domains of cochlin and testing the functional changes in the mutant cochlin, we investigated the different pathogeneses for mutations in LCCL and vWFA domains.Targeted next-generation sequencing for deafness-related genes was used to identify the mutation in the proband in family #208. The probands of family #208 and family #32 with the same p.C162Y mutation were followed for more than 3 years to evaluate the progression of hearing loss and vestibular dysfunction using pure-tone audiometry, caloric testing, electrocochleogram, vestibular-evoked myogenic potential, and video head-impulse test. The disruption of normal cleavage to produce secreted LCCL domain fragments and the tendency to form aggregations of mutant cochlins were tested by in vitro cell experiments.The two families showed different clinical symptoms. Family #32 was identified as having early-onset, progressive sensorineural hearing loss, similar to the symptoms in DFNA9 patients with cochlin mutations in the vWFA domain. The proband of family #208 endured late-onset recurrent paroxysmal vertigo attacks and progressively deteriorating hearing, similar to symptoms in those with cochlin mutations in the LCCL domain. We therefore suggest that the disrupted cleavage of the LCCL domain fragment is likely to cause vestibular dysfunction, and aggregation of mutant cochlin caused by mutations in the vWFA domain is responsible for early-onset hearing loss. The p.C162Y mutation causes either disruption of LCCL domain fragment cleavage or aggregation of mutant cochlin, resulting in the different phenotypes in the two families.This study demonstrates that DFNA9 families with the same genotype may have significantly different phenotypes. The mutation site in cochlin is related to the pathological mechanism underlying the different phenotypes.

  6. Non-syndromic retinitis pigmentosa

    NARCIS (Netherlands)

    Verbakel, S.K. (Sanne K.); R.A.C. van Huet (Ramon A. C.); C.J.F. Boon (Camiel); A.I. Hollander (Anneke); R.W.J. Collin (Rob); C.C.W. Klaver (Caroline); C. Hoyng (Carel); R. Roepman (Ronald); B.J. Klevering (Jeroen)

    2018-01-01

    textabstractRetinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading cause of visual disability, with a worldwide prevalence of 1:4000. Although the majority of RP cases are non-syndromic,

  7. Children, Deaf, of Deaf Parents

    NARCIS (Netherlands)

    Baker, A.E.; van den Bogaerde, B.; Gertz, G.; Boudreault, P.

    2016-01-01

    Deaf children with Deaf parents usually grow up in the Deaf community, that is if their parents offer them a sign language and are active members of the community. These Deaf children are similar to other children of linguistic and cultural minorities in many ways. They are also different in that

  8. Genetics Home Reference: CATSPER1-related nonsyndromic male infertility

    Science.gov (United States)

    ... related nonsyndromic male infertility CATSPER1-related nonsyndromic male infertility Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description CATSPER1 -related nonsyndromic male infertility is a condition that affects the function of ...

  9. Waardenburg syndrome in the Turkish deaf population.

    Science.gov (United States)

    Silan, F; Zafer, C; Onder, I

    2006-01-01

    Waardenburg Syndrome (WS) is an autosomal, dominantly inherited disorder that accounts for more than 2% cases of congenital deafness. The aim of this study is to determine the WS incidence among deaf pupils. Dysmorphological examination was performed on 720 children who were attending 7 special schools in Turkey and who had hearing disabilities. All subjects in the study were examined for WS diagnostic criteria. We detected 49 patients (6.8%) with WS among the 720 children examined. Six patients had WS type 1 (12.2%) and 43 had type 2 (87.8%). We observed 2 to 5 major diagnostic criteria for WS. Out of all the subjects in the study, only two patients have deaf first degree relatives. All subjects had been previously examined by physicians for deafness but none of them had been then diagnosed to have Waardenburg Syndrome. Instead, they were all misdiagnosed as to have nonsyndromic deafness. Awareness of WS diagnostic criteria by the physicans will provide accurate diagnosis for many deaf pupils and their first degree relatives who are able-to-hear WS patients and whose children are at risk for deafness.

  10. [Study of generational risk in deafness inflicted couples using deafness gene microarray technique].

    Science.gov (United States)

    Wang, Ping; Zhao, Jia; Yu, Shu-yuan; Jin, Peng; Zhu, Wei; DU, Bo

    2011-06-01

    To explored the significance of screening the gene mutations of deafness related in deaf-mute (deaf & dumb) family using DNA microarray. Total of 52 couples of deaf-mute were recruited from Changchun deaf-mute community. With an average age of (58.3 ± 6.7) years old (x(-) ± s). Blood samples were obtained with informed consent. Their genomic DNA was extracted from peripheral blood and PCR was performed. Nine of hot spot mutations in four most common deafness pathologic gene were examined with the DNA microarray, including GJB2, GJB3, PDS and mtDNA 12S rRNA genes. At the same time, the results were verified with the traditional methods of sequencing. Fifty of normal people served as a control group. All patients were diagnosed non-syndromic sensorineural hearing loss by subjective pure tone audiometry. Thirty-two of 104 cases appeared GJB2 gene mutation (30.7%), the mutation sites included 35delG, 176del16, 235delC and 299delAT. Eighteen of 32 cases of GJB2 mutations were 235delC (59.1%). Seven of 104 cases appeared SLC26A4 gene IVS7-2 A > G mutation. Questionnaire survey and gene diagnosis revealed that four of 52 families have deaf offspring (7.6%). When a couple carries the same gene mutation, the risk of their children deafness was 100%. The results were confirmed with the traditional methods of sequencing. There is a high risk of deafness if a deaf-mute family is planning to have a new baby. It is very important and helpful to avoid deaf newborns again in deaf-mute family by DNA microarray.

  11. Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.

    Directory of Open Access Journals (Sweden)

    Hong Wu

    Full Text Available The aim of this study was to evaluate the GoldenGate microarray as a diagnostic tool and to elucidate the contribution of the genes on this array to the development of both nonsyndromic and syndromic sensorineural hearing loss in China.We developed a microarray to detect 240 mutations underlying syndromic and nonsyndromic sensorineural hearing loss. The microarray was then used for analysis of 382 patients with nonsyndromic sensorineural hearing loss (including 15 patients with enlarged vestibular aqueduct syndrome, 21 patients with Waardenburg syndrome, and 60 unrelated controls. Subsequently, we analyzed the sensitivity, specificity, and reproducibility of this new approach after Sanger sequencing-based verification, and also determined the contribution of the genes on this array to the development of distinct hearing disorders.The sensitivity and specificity of the microarray chip were 98.73% and 98.34%, respectively. Genetic defects were identified in 61.26% of the patients with nonsyndromic sensorineural hearing loss, and 9 causative genes were identified. The molecular etiology was confirmed in 19.05% and 46.67% of the patients with Waardenburg syndrome and enlarged vestibular aqueduct syndrome, respectively.Our new mutation-based microarray comprises an accurate and comprehensive genetic tool for the detection of sensorineural hearing loss. This microarray-based detection method could serve as a first-pass screening (before next-generation-sequencing screening for deafness-causing mutations in China.

  12. Seeing the Deaf in "Deafness"

    Science.gov (United States)

    Obasi, Chijioke

    2008-01-01

    This article draws on some of the existing literature on the politics of identity and representation as related to minority group formation. It applies this to constructions of Deaf identity from a cultural and linguistic perspective and contrasts this with dominant constructions of Deaf people as disabled. It highlights a number of ways in which…

  13. Deaf directory.

    Science.gov (United States)

    1994-11-23

    The third edition of the 199415 Directory from the Council for the Advancement of Communication with Deaf People (CACDP) is now available. Information on 192 sign language interpreters, lipspeakers, interpreters for deafblind people and speech to text reporters is provided. Details from CACDP on 0191 374 3607.

  14. Genetics Home Reference: nonsyndromic hearing loss

    Science.gov (United States)

    ... Centre for Genetics Education (Australia) Disease InfoSearch: Deafness Harvard Medical School Center for Hereditary Deafness Hereditary Hearing ... Available from http://www.ncbi.nlm.nih.gov/books/NBK1434/ Citation on ... Bulletins Genetics Home Reference Celebrates Its 15th Anniversary ...

  15. Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.

    Science.gov (United States)

    DeMille, Desiree; Carlston, Colleen M; Tam, Oliver H; Palumbos, Janice C; Stalker, Heather J; Mao, Rong; Zori, Roberto T; Viskochil, David H; Park, Albert H; Carey, John C

    2018-04-01

    Connexin 26 (Cx26), encoded by the GJB2 gene, is a key protein involved in the formation of gap junctions in epithelial organs including the inner ear and palmoplantar epidermis. Pathogenic variants in GJB2 are responsible for approximately 50% of inherited sensorineural deafness. The majority of these variants are associated with autosomal recessive inheritance; however, rare reports of dominantly co-segregating variants have been published. Since we began offering GJB2 testing in 2003, only about 2% of detected GJB2 variants from our laboratory have been classified as dominant. Here we report three novel dominant GJB2 variants (p.Thr55Ala, p.Gln57_Pro58delinsHisSer, and p.Trp44Gly); two associated with syndromic sensorineural hearing loss and one with nonsyndromic hearing loss. In the kindred with the p.Thr55Ala variant, the proband and his father present with only leukonychia as a cutaneous finding of their syndromic hearing loss. This phenotype has been previously documented in conjunction with palmoplantar hyperkeratosis, but isolated leukonychia is a novel finding likely associated with the unique threonine to alanine change at codon 55 (other variants at this codon have been reported in cases of nonsyndromic hearing loss). This report contributes to the short list of GJB2 variants associated with autosomal dominant hearing loss, highlights the variability of skin and nail findings associated with such cases, and illustrates the occurrence of both syndromic and nonsyndromic presentations with changes in the same gene. © 2018 Wiley Periodicals, Inc.

  16. Non-syndromic posterior lenticonus a cause of childhood cataract: evidence for X-linked inheritance.

    Science.gov (United States)

    Russell-Eggitt, I M

    2000-12-01

    When an X-linked pedigree of posterior lenticonus with cataract was identified further evidence for X-linked inheritance of this condition was sought. Forty-three cases of posterior lenticonus were identified from a database of 354 children with cataract. Two children with the X-linked syndromes of Lowe and Nance-Horan and 3 children with Fanconi syndrome have been excluded from further analysis. None of the children was deaf. None of the non-syndromic cases had microcornea. There were 38 cases of non-syndromic posterior lenticonus (approximately 11%). There were 15 children from 13 pedigrees and 23 apparently sporadic cases. Of the 106 cases on the database with unilateral cataract 15 had posterior lenticonus (approximately 14%). Eleven of 13 pedigrees were compatible with X-linked inheritance or autosomal dominant inheritance with variable expression. However, in 2 pedigrees there was father to son transmission. Posterior lenticonus is a common cause of unilateral infantile cataract, but is thought to be a rare cause of bilateral cataracts. This study suggests that posterior lenticonus is responsible for a significant proportion of childhood cataracts (approximately 14% of unilateral and approximately 9% of bilateral cases). Posterior lenticonus is generally thought to occur as a sporadic condition. This study demonstrates that there is a family history of early-onset cataract in a significant number of bilateral cases (approximately 58%).

  17. Deaf Culture. PEPNet Tipsheet

    Science.gov (United States)

    Siple, Linda; Greer, Leslie; Holcomb, Barbra Ray

    2004-01-01

    It often comes as a surprise to people that many deaf people refer to themselves as being members of Deaf culture. The American Deaf culture is a unique linguistic minority that uses American Sign Language (ASL) as its primary mode of communication. This tipsheet provides a description of Deaf culture and suggestions for effective communication.

  18. Molecular and Clinical Studies of X-linked Deafness Among Pakistani Families

    OpenAIRE

    Waryah, Ali M.; Ahmed, Zubair M.; Choo, Daniel I.; Sisk, Robert A.; Binder, Munir A.; Shahzad, Mohsin; Khan, Shaheen N.; Friedman, Thomas B.; Riazuddin, Sheikh; Riazuddin, Saima

    2011-01-01

    There are 68 sex-linked syndromes that include hearing loss as one feature and five sex-linked nonsyndromic deafness loci listed in the OMIM database. The possibility of additional such sex-linked loci was explored by ascertaining three unrelated Pakistani families (PKDF536, PKDF1132, PKDF740) segregating X-linked recessive deafness. Sequence analysis of POU3F4 (DFN3) in affected members of families PKDF536 and PKDF1132 revealed two novel nonsense mutations, p.Q136X and p.W114X, respectively....

  19. Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China

    Directory of Open Access Journals (Sweden)

    Kang Dongyang

    2009-09-01

    Full Text Available Abstract Background Every year, 30,000 babies are born with congenital hearing impairment in China. The molecular etiology of hearing impairment in the Chinese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we performed a comprehensive investigation of the molecular etiology of nonsyndromic deafness in two typical areas from northern and southern China. Methods A total of 284 unrelated school children with hearing loss who attended special education schools in China were enrolled in this study, 134 from Chifeng City in Inner Mongolia and the remaining 150 from Nangtong City in JiangSu Province. Screening was performed for GJB2, GJB3, GJB6, SLC26A4, 12S rRNA, and tRNAser(UCN genes in this population. All patients with SLC26A4 mutations or variants were subjected to high-resolution temporal bone CT scan to verify the enlarged vestibular aqueduct. Results Mutations in the GJB2 gene accounted for 18.31% of the patients with nonsyndromic hearing loss, 1555A>G mutation in mitochondrial DNA accounted for 1.76%, and SLC26A4 mutations accounted for 13.73%. Almost 50% of the patients with nonsyndromic hearing loss in these typical Chinese areas carried GJB2 or SLC26A4 mutations. No significant differences in mutation spectrum or prevalence of GJB2 and SLC26A4 were found between the two areas. Conclusion In this Chinese population, 54.93% of cases with hearing loss were related to genetic factors. The GJB2 gene accounted for the etiology in about 18.31% of the patients with hearing loss, SLC26A4 accounted for about 13.73%, and mtDNA 1555A>G mutation accounted for 1.76%. Mutations in GJB3, GJB6, and mtDNA tRNAser(UCN were not common in this Chinese cohort. Conventionally, screening is performed for GJB2, SLC26A4, and mitochondrial 12S rRNA in the Chinese deaf population.

  20. IRF6 mutation screening in non-syndromic orofacial clefting

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Koboldt, Daniel C; Kang, C. J.

    2016-01-01

    -syndromic OFCs. About 70% of causal VWS mutations occur in IRF6, a gene that is also associated with non-syndromic OFCs. Screening for IRF6 mutations in apparently non-syndromic cases has been performed in several modestly sized cohorts with mixed results. In this study, we screened 1521 trios with presumed non......-syndromic OFCs to determine the frequency of causal IRF6 mutations. We identified seven likely causal IRF6 mutations, although a posteriori review identified two misdiagnosed VWS families based on the presence of lip pits. We found no evidence for association between rare IRF6 polymorphisms and non......-syndromic OFCs. We combined our results with other similar studies (totaling 2472 families) and conclude that causal IRF6 mutations are found in 0.24–0.44% of apparently non-syndromic OFC families. We suggest that clinical mutation screening for IRF6 be considered for certain family patterns such as families...

  1. Marital Quality in Deaf-Deaf and Deaf-Hearing Marriages

    OpenAIRE

    Mosier, Anthony G.

    1999-01-01

    The purpose of this study was to assess similarities and differences in marital adjustment between Deaf-Deaf and Deaf-hearing married couples. In examining marital adjustment, Spanier's Revised Dyadic Adjustment Scale (RDAS) was translated from English to American Sign Language (ASL) and administered to 30 Deaf-Deaf and 22 Deaf-hearing couple respondents. Although there were no statistically significant differences between the two groups. Deaf-Deaf couples tended to have higher marital adj...

  2. Supernumerary teeth in non-syndromic patients

    Energy Technology Data Exchange (ETDEWEB)

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh [Nair Hospital Dental College, Maharashtra (India)

    2012-03-15

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  3. Supernumerary teeth in non-syndromic patients

    International Nuclear Information System (INIS)

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh

    2012-01-01

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  4. THE DEAFNESS, THE DEAF AND HIS DISCURSE

    Directory of Open Access Journals (Sweden)

    Neuma Chaveiro

    2006-12-01

    Full Text Available ABSTRACT: The knowledge of LIBRAS – Brazilian Sign Language – is determining to the process of structuring the discursive formations and to the constitution of the deaf one. The present work aims to discuss the LIBRAS as an important tool of structuring the discursive of the deaf individual an as a facilitating factor in the description of his health problems. The data constitute two texts, one of them wrote by a deaf skilled in LIBRAS and the other wrote by a deaf who does not express himself in this kind of language. It was verified that the first text’s author is consistent, has mobility and moves easily through the discursive formations, but otherwise is the text belonging to the other patient. It can be stated that the Brazilian sign language – LIBRAS – is a decisive tool in the working out of the deaf discursive formations and the comprehension of his discourse by the health area professionals provide a larger understanding of the constitution of the deaf identity, a fundamental aspect for an improvement in the services offered in the health area. KEYWORDS: Deafness; Communication; Sign Language.

  5. Being a Deaf Role Model: Deaf People's Experiences of Working with Families and Deaf Young People

    Science.gov (United States)

    Rogers, Katherine D.; Young, Alys M.

    2011-01-01

    The experiences of being a deaf role model have been little explored in the literature. This paper explores the role of the deaf role model as perceived by d/Deaf adults who carried out this role, when working with deaf young people, parents of deaf children, and professionals who work with them. The data were collected from part of the evaluation…

  6. Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss.

    Science.gov (United States)

    Tlili, Abdelaziz; Al Mutery, Abdullah; Kamal Eddine Ahmad Mohamed, Walaa; Mahfood, Mona; Hadj Kacem, Hassen

    2017-11-01

    Mutations in the gap junction protein beta 2 (GJB2) gene are responsible for more cases of nonsyndromic recessive hearing loss than any other gene. The purpose of our study was to evaluate the prevalence of GJB2 mutations among affected individuals from United Arab Emirates (UAE). There were 50 individuals diagnosed with hereditary hearing loss and 120 healthy individuals enrolled in the study. The Sanger sequencing method was used to screen the GJB2 coding region in all affected individuals. The c.-1G>A variant was determined by the polymerase chain reaction-restriction fragment length polymorphism method in normal individuals. Nine cases with bi-allelic mutations and three cases with mono-allelic mutations were detected in 12 out of 50 patients (24%). The homozygous mutation c.35delG was identified as the cause of hearing loss in six participants (12%). The mutation c.506G>A was identified in three affected individuals (6%). The allelic frequency (14%) and low percentage of individuals that were homozygous (2%) for the c.35delG mutation suggest that there are other genes responsible for nonsyndromic deafness in the UAE population. The results reported here are a preliminary step in collecting epidemiological data regarding autosomal recessive nonsyndromic hearing loss related to GJB2 gene mutations among the UAE population. The c.35delG mutation of the GJB2 gene is the most frequently seen causative mutation in the UAE and is followed by the p.Cys169Tyr mutation.

  7. Single Nucleotide Polymorphisms of the GJB2 and GJB6 Genes Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss

    Directory of Open Access Journals (Sweden)

    Ana Paula Grillo

    2015-01-01

    Full Text Available Single nucleotide polymorphisms (SNPs are important markers in many studies that link DNA sequence variations to phenotypic changes; such studies are expected to advance the understanding of human physiology and elucidate the molecular basis of diseases. The DFNB1 locus, which contains the GJB2 and GJB6 genes, plays a key role in nonsyndromic hearing loss. Previous studies have identified important mutations in this locus, but the contribution of SNPs in the genes has not yet been much investigated. The aim of this study was to investigate the association of nine polymorphisms located within the DFNB1 locus with the occurrence of autosomal recessive nonsyndromic hearing loss (ARNSHL. The SNPs rs3751385 (C/T, rs7994748 (C/T, rs7329857 (C/T, rs7987302 (G/A, rs7322538 (G/A, rs9315400 (C/T, rs877098 (C/T, rs945369 (A/C, and rs7333214 (T/G were genotyped in 122 deaf patients and 132 healthy controls using allele-specific PCR. There were statistically significant differences between patients and controls, in terms of allelic frequencies in the SNPs rs3751385, rs7994748, rs7329857, rs7987302, rs945369, and rs7333214 (P<0.05. No significant differences between the two groups were observed for rs7322538, rs9315400, and rs877098. Our results suggest that SNPs present in the GJB2 and GJB6 genes may have an influence on ARNSHL in humans.

  8. P2X2 Dominant Deafness Mutations Have No Negative Effect on Wild-Type Isoform: Implications for Functional Rescue and in Deafness Mechanism

    Directory of Open Access Journals (Sweden)

    Yan Zhu

    2017-11-01

    Full Text Available The P2X2 receptor is an ATP-gated ion channel, assembled by three subunits. Recently, it has been found that heterozygous mutations of P2X2 V60L and G353R can cause autosomal dominant nonsyndromic hearing loss. However, the underlying mechanism remains unclear. The fact that heterozygous mutations cause deafness suggests that the mutations may have dominant-negative effect (DNE on wild-type (WT P2X2 isoforms and/or other partners leading to hearing loss. In this study, the effect of these dominant deafness P2X2 mutations on WT P2X2 was investigated. We found that sole transfection of both V60L and G353R deafness mutants could efficiently target to the plasma membrane, like WT P2X2, but exhibit a significantly reduced response to ATP stimulation. Both mutants reduced the channel conductance, but G353R mutation also altered the voltage dependency. Co-expression with WT P2X2 could restore the response to ATP. As the ratio of WT P2X2 vs. mutants increased, the response to ATP was also increased. Computer modeling confirmed that both V60L and G353R dominant-deafness mutant subunits do not have any negative effect on WT P2X2 subunit, when assembled as a heterotrimer. Improper docking or defective gating is the more likely mechanism for impaired channel function by these P2X2 deafness mutations. These results suggest that P2X2 dominant deafness mutations do not have negative effects on WT P2X2 isoforms, and that adding additional WT P2X2 could rescue the lost channel function caused by the deafness mutations. These P2X2 dominant deafness mutations may have negative-effects on other partners leading to hearing loss.

  9. The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.

    Science.gov (United States)

    Brownstein, Zippora; Ben-Yosef, Tamar; Dagan, Orit; Frydman, Moshe; Abeliovich, Dvorah; Sagi, Michal; Abraham, Fabian A; Taitelbaum-Swead, Riki; Shohat, Mordechai; Hildesheimer, Minka; Friedman, Thomas B; Avraham, Karen B

    2004-06-01

    Usher syndrome is a frequent cause of the combination of deafness and blindness due to retinitis pigmentosa (RP). Five genes are known to underlie different forms of Usher syndrome type I (USH1). In the Ashkenazi Jewish population, the R245X mutation of the PCDH15 gene may be the most common cause of USH1 (Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RK, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB N Engl J Med 348: 1664-1670, 2003). To estimate what percentage of Ashkenazi Jewish children born with profound hearing loss will develop RP due to R245X, we examined the prevalence of the R245X PCDH15 mutation and its carrier rate among Ashkenazi Jews in Israel. Among probands diagnosed with nonsyndromic hearing loss not due to mutations of connexin 26 (GJB2) and/or connexin 30 (GJB6), and below the age of 10, 2 of 20 (10%) were homozygous for the R245X mutation. Among older nonsyndromic deaf individuals, no homozygotes were detected, although one individual was heterozygous for R245X. The carrier rate of the R245X mutation among the normal hearing Ashkenazi population in Israel was estimated at 1%. Ashkenazi Jewish children with profound prelingual hearing loss should be evaluated for the R245X PCDH15 mutation and undergo ophthalmologic evaluation to determine whether they will develop RP. Rehabilitation can then begin before loss of vision. Early use of cochlear implants in such cases may rescue these individuals from a dual neurosensory deficit.

  10. Deaf Sociality and the Deaf Lutheran Church in Adamorobe, Ghana

    Science.gov (United States)

    Kusters, Annelies

    2014-01-01

    This article provides an ethnographic analysis of "deaf sociality" in Adamorobe, a village in Ghana, where the relatively high prevalence of hereditary deafness has led to dense social and spatial connections. Deaf people are part of their hearing environment particularly through family networks, and produce deaf sociality through many…

  11. Deaf Autism: Common Instructional Practices Described by Deaf Educators

    Science.gov (United States)

    Rutledge, Felicia

    2017-01-01

    The purpose of this research study was to identify common instructional practices described by teachers of the deaf with students who are deaf with autism that increase both student engagement and instructional outcomes. As the diversity of students increase within deaf/hard of hearing programs, research is emerging in the area of deaf autism.…

  12. Deafness and Hearing Loss.

    Science.gov (United States)

    National Information Center for Children and Youth with Disabilities, Washington, DC.

    This brief overview provides information on the definition, incidence, and characteristics of children with hearing impairments and deafness. The federal definitions of hearing impairment and deafness are provided. The different types of hearing loss are noted, including: (1) conductive (caused by diseases or obstructions in the outer or middle…

  13. Deaf Culture. NETAC Teacher Tipsheet

    Science.gov (United States)

    Siple, Linda; Greer, Leslie; Holcomb, Barbara Ray

    2004-01-01

    It often comes as a surprise to people that many deaf people refer to themselves as being members of Deaf culture. The American Deaf culture is a unique linguistic minority that uses American Sign Language (ASL) as its primary mode of communication. This tipsheet provides a description of Deaf culture and suggestions for effective communication.

  14. Deaf/Hearing Research Partnerships

    Science.gov (United States)

    Wolsey, Ju-Lee A.; Misener Dunn, Kim; Gentzke, Scott W.; Joharchi, Hannah A.; Clark, M. Diane

    2017-01-01

    Deaf individuals typically are seen through the lens of the dominant hearing society's perception, i.e., that being deaf is an impairment. Today, a small but growing number of Deaf and hearing researchers are challenging this perception. The authors examined perceptions of what components are necessary for a successful Deaf/hearing research…

  15. Comparing Motor Development of Deaf Children of Deaf Parents and Deaf Children of Hearing Parents

    Science.gov (United States)

    Lieberman, Lauren J.; Volding, Lori; Winnick, Joseph P.

    2004-01-01

    Deaf children of Deaf parents perform better academically (Ritter-Brinton & Stewart, 1992), linguistically (Courtin, 2000; M. Harris, 2001; Vaccari & Marschark, 1997), and socially (Hadadian & Rose, 1991; M. Harris, 2001) than Deaf children of hearing parents. Twenty-nine Deaf children in residential schools were assessed to determine if a…

  16. Language and cognitive development in deaf children: deaf children with deaf and deaf children with hearing parents

    OpenAIRE

    Ajda Pfifer

    2011-01-01

    The article reviews the current studies regarding language and cognitive development in children who are deaf. Deaf communicate orally and with sign language. 90 % of deaf children are born into hearing families and hearing parents in most cases do not know the sign language. Besides, hearing parents usually want for their child to become "normally" speaking. Most of the deaf children born into hearing families have very poor early communication. It is now well established that deaf children ...

  17. Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

    Directory of Open Access Journals (Sweden)

    Sobia Shafique

    Full Text Available The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL in Pakistan is 1.6/1000 individuals. More than 50% of the families carry mutations in GJB2 while mutations in MYO15A account for about 5% of recessive deafness. In the present study a cohort of 30 ARNSHL families was initially screened for mutations in GJB2 and MYO15A. Homozygosity mapping was performed by employing whole genome single nucleotide polymorphism (SNP genotyping in the families that did not carry mutations in GJB2 or MYO15A. Mutation analysis was performed for the known ARNSHL genes present in the homozygous regions to determine the causative mutations. This allowed the identification of a causative mutation in all the 30 families including 9 novel mutations, which were identified in 9 different families (GJB2 (c.598G>A, p.Gly200Arg; MYO15A (c.9948G>A, p.Gln3316Gln; c.3866+1G>A; c.8767C>T, p.Arg2923* and c.8222T>C, p.Phe2741Ser, TMC1 (c.362+18A>G, BSND (c.97G>C, p.Val33Leu, TMPRSS3 (c.726C>G, p.Cys242Trp and MSRB3 (c.20T>G, p.Leu7Arg. Furthermore, 12 recurrent mutations were detected in 21 other families. The 21 identified mutations included 10 (48% missense changes, 4 (19% nonsense mutations, 3 (14% intronic mutations, 2 (9% splice site mutations and 2 (9% frameshift mutations. GJB2 accounted for 53% of the families, while mutations in MYO15A were the second most frequent (13% cause of ARNSHL in these 30 families. The identification of novel as well as recurrent mutations in the present study increases the spectrum of mutations in known deafness genes which could lead to the identification of novel founder mutations and population specific mutated deafness genes causative of ARNSHL. These results provide detailed genetic information that has potential diagnostic implication in the establishment of cost-efficient allele-specific analysis of frequently occurring variants in combination with other reported mutations in Pakistani populations.

  18. Concordance of MRI and EEG Focal Slowing in Nonsyndromic Epilepsy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-04-01

    Full Text Available Investigators at the Kangwon National University, Korea, and The Epilepsy Center, Lurie Children’s Hospital of Chicago, USA studied the correlation and significance of EEG focal slowing and focal MRI abnormalities in 253 children with nonsyndromic epilepsy.

  19. Research on Deafness

    Science.gov (United States)

    Ramsey, Collette

    1970-01-01

    Paper presented at the Summer Meeting of the Alexander Graham Bell Association (Philadelphia, June 24-27, 1970) in which the author reviews the research supported by The Deafness Research Foundation. (RD)

  20. Hearing Disorders and Deafness

    Science.gov (United States)

    ... enough to enjoy talking with friends or family. Hearing disorders make it hard, but not impossible, to ... often be helped. Deafness can keep you from hearing sound at all. What causes hearing loss? Some ...

  1. Clinical Application of Screening for GJB2 Mutations before Cochlear Implantation in a Heterogeneous Population with High Rate of Autosomal Recessive Nonsyndromic Hearing Loss

    Directory of Open Access Journals (Sweden)

    Masoud Motasaddi Zarandy

    2011-01-01

    Full Text Available Clinical application of mutation screening and its effect on the outcome of cochlear implantation is widely debated. We investigated the effect of mutations in GJB2 gene on the outcome of cochlear implantation in a population with a high rate of consanguineous marriage and autosomal recessive nonsyndromic hearing loss. Two hundred and one children with profound prelingual sensorineural hearing loss were included. Forty-six patients had 35delG in GJB2. Speech awareness thresholds (SATs and speech recognition thresholds (SRTs improved following implantation, but there was no difference in performance between patients with GJB2-related deafness versus control (all >0.10. Both groups had produced their first comprehensible words within the same period of time following implantation (2.27 months in GJB2-related deaf versus 2.62 months in controls, =0.22. Although our findings demonstrate the need to uncover unidentified genetic causes of hereditary deafness, they do not support the current policy for genetic screening before cochlear implantation, nor prove a prognostic value.

  2. Detection of Deafness-Causing Mutations in the Greek Mitochondrial Genome

    Directory of Open Access Journals (Sweden)

    Haris Kokotas

    2011-01-01

    Full Text Available Mitochondrion harbors its own DNA, known as mtDNA, encoding certain essential components of the mitochondrial respiratory chain and protein synthesis apparatus. mtDNA mutations have an impact on cellular ATP production and many of them are undoubtedly a factor that contributes to sensorineural deafness, including both syndromic and non-syndromic forms. Hot spot regions for deafness mutations are the MTRNR1 gene, encoding the 12S rRNA, the MTTS1 gene, encoding the tRNA for Ser(UCN, and the MTTL1 gene, encoding the tRNA for Leu(UUR. We investigated the impact of mtDNA mutations in the Greek hearing impaired population, by testing a cohort of 513 patients suffering from childhood onset prelingual or postlingual, bilateral, sensorineural, syndromic or non-syndromic hearing loss of any degree for six mitochondrial variants previously associated with deafness. Screening involved the MTRNR1 961delT/insC and A1555G mutations, the MTTL1 A3243G mutation, and the MTTS1 A7445G, 7472insC and T7510C mutations. Although two patients were tested positive for the A1555G mutation, we failed to identify any subject carrying the 961delT/insC, A3243G, A7445G, 7472insC, or T7510C mutations. Our findings strongly support our previously raised conclusion that mtDNA mutations are not a major risk factor for sensorineural deafness in the Greek population.

  3. Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.

    Science.gov (United States)

    Yoshimura, Hidekane; Miyagawa, Maiko; Kumakawa, Kozo; Nishio, Shin-Ya; Usami, Shin-Ichi

    2016-05-01

    Usher syndrome type 1 (USH1) is the most severe of the three USH subtypes due to its profound hearing loss, absent vestibular response and retinitis pigmentosa appearing at a prepubescent age. Six causative genes have been identified for USH1, making early diagnosis and therapy possible through DNA testing. Targeted exon sequencing of selected genes using massively parallel DNA sequencing (MPS) technology enables clinicians to systematically tackle previously intractable monogenic disorders and improve molecular diagnosis. Using MPS along with direct sequence analysis, we screened 227 unrelated non-syndromic deaf children and detected recessive mutations in USH1 causative genes in five patients (2.2%): three patients harbored MYO7A mutations and one each carried CDH23 or PCDH15 mutations. As indicated by an earlier genotype-phenotype correlation study of the CDH23 and PCDH15 genes, we considered the latter two patients to have USH1. Based on clinical findings, it was also highly likely that one patient with MYO7A mutations possessed USH1 due to a late onset age of walking. This first report describing the frequency (1.3-2.2%) of USH1 among non-syndromic deaf children highlights the importance of comprehensive genetic testing for early disease diagnosis.

  4. Arts Accessibility for the Deaf.

    Science.gov (United States)

    Bergman, Eugene

    The booklet provides information and resources for cultural organizations and institutions interested in making the arts accessible to deaf citizens. Preliminary information includes a discussion of deafness in America and the deaf in the history of the arts and notes that the era of silent films was the golden age of cinema. Listed are 36…

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

    International Nuclear Information System (INIS)

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

    2008-01-01

    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

  6. Study of Deafness Associated with DFNB59 Gene (pejvakin Mutation in Fars Province

    Directory of Open Access Journals (Sweden)

    S Raeisi

    2012-05-01

    Full Text Available

    Background and Objectives: Hearing loss is the most frequent sensory disorder affecting 1 in 500 neonates with more than 50% of inherited cases. This trait is a very heterogeneous disorder and happens due to genetic or environmental causes or both. More than 46 genes may be involved in non-syndromic hearing loss. Recently, DFNB59 gene has been shown to cause deafness in some Iranian populations. The aim of this study was to determine the role of DFNB59 gene mutations causing deafness in a group of 130 deaf pupils in Fars province. Methods: This descriptive-laboratory based study investigated the frequency of DFNB59 gene mutations using PCR-SSCP/HA strategy. Results: Two different DFNB59 polymorphism including 874G>A and 793C>G were found in 1 and 9 of 130 patients studied respectively. However, no DFNB59 mutation was identified. Conclusion: The results of this study shows that the association of DFNB59 mutations with deafness in Fars province is very low.

  7. Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.

    Directory of Open Access Journals (Sweden)

    Aparna Ganapathy

    Full Text Available Mutations in the autosomal genes TMPRSS3, TMC1, USHIC, CDH23 and TMIE are known to cause hereditary hearing loss. To study the contribution of these genes to autosomal recessive, non-syndromic hearing loss (ARNSHL in India, we examined 374 families with the disorder to identify potential mutations. We found four mutations in TMPRSS3, eight in TMC1, ten in USHIC, eight in CDH23 and three in TMIE. Of the 33 potentially pathogenic variants identified in these genes, 23 were new and the remaining have been previously reported. Collectively, mutations in these five genes contribute to about one-tenth of ARNSHL among the families examined. New mutations detected in this study extend the allelic heterogeneity of the genes and provide several additional variants for structure-function correlation studies. These findings have implications for early DNA-based detection of deafness and genetic counseling of affected families in the Indian subcontinent.

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

    Energy Technology Data Exchange (ETDEWEB)

    Lalwani, A.K.; Brister, J.R.; Fex, J.; Grundfast, K.M.; Pikus, A.T.; Ploplis, B.; San Agustin, T.; Skarka, H.; Wilcox, E.R. [National Institutes of Health, Bethesda, MD (United States)

    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.

  9. [Deafness and sarcoidosis].

    Science.gov (United States)

    Moine, A; Frachet, B; Van Den Abbeele, T; Tison, P; Battesti, J P

    1990-01-01

    The cochleovestibular tract is seldom involved by sarcoidosis (about 50 cases have been described since 1948). As a clinical expression of sarcoidosis, deafness is fluctuant in 50% of all cases, bilateral, and most often associated with facial palsy and uveitis, the vestibular reflexes being reduced. The histological studies demonstrate lesions at all levels from the cochlea to be brain stem, but the main mechanism is an infiltration of the arachnoid vessels. The prognosis of sarcoidosis deafness is usually poor in spite of corticosteroid therapy. This paper is illustrated by 3 cases observed in Avicenne Hospital.

  10. Supporting Deaf Students--and All Students

    Science.gov (United States)

    Yuknis, Christina; Santini, Joseph; Appanah, Thangi

    2017-01-01

    Two faculty members and a Ph.D. student at Gallaudet University, the world's only university for the deaf, explain the concept of Deaf-Gain, which reframes the idea of hearing loss into one of gaining deafness and recognizes the contributions that deaf people make to society. This narrative assumes that deaf students and all students bring…

  11. Psychodrama with Deaf People

    Science.gov (United States)

    Clayton, Lynette; Robinson, Luther D.

    1971-01-01

    Observations based on psychodrama with deaf people, relating to interaction between people and the communication process, are made. How role training skills, which involve some of the skills of psychodrama, can be applied by professionals in vocational and social learning situations is illustrated. (KW)

  12. Children of Deaf Adults

    NARCIS (Netherlands)

    van den Bogaerde, B.; Baker, A.E.; Gertz, G.; Boudreault, P.

    2016-01-01

    The hearing children of Deaf parents grow up in two cultures with two languages. They are similar to other bilingual, bicultural children in many ways but are special also. They can be in conflict between two worlds and often carry an extra burden of responsibility in functioning as a bridge between

  13. Sampling the Deaf Experience.

    Science.gov (United States)

    Teller, Henry E.; And Others

    1993-01-01

    Two graduate students in deaf education wore ear plugs for two months to simulate hearing loss, and recorded their experiences and feelings. Excerpts from their journals are presented, commenting on such daily activities as shopping at a mall, watching television, driving, babysitting, and attending a football game. (JDD)

  14. Pedophilia and Deafness.

    Science.gov (United States)

    Vernon, McCay; Rich, Steve

    1997-01-01

    Data from 22 cases of individuals with deafness suffering from pedophilia indicate a number of factors that distinguish them from hearing pedophiles. Differences include a prevalence of Primitive Personality Disorder, a high rate of brain damage, illiteracy, poorer communication skills, and psychiatric illnesses. Legal issues, prevention, and…

  15. A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

    Science.gov (United States)

    Lenassi, Eva; Vincent, Ajoy; Li, Zheng; Saihan, Zubin; Coffey, Alison J; Steele-Stallard, Heather B; Moore, Anthony T; Steel, Karen P; Luxon, Linda M; Héon, Elise; Bitner-Glindzicz, Maria; Webster, Andrew R

    2015-01-01

    Defects in USH2A cause both isolated retinal disease and Usher syndrome (ie, retinal disease and deafness). To gain insights into isolated/nonsyndromic USH2A retinopathy, we screened USH2A in 186 probands with recessive retinal disease and no hearing complaint in childhood (discovery cohort) and in 84 probands with recessive retinal disease (replication cohort). Detailed phenotyping, including retinal imaging and audiological assessment, was performed in individuals with two likely disease-causing USH2A variants. Further genetic testing, including screening for a deep-intronic disease-causing variant and large deletions/duplications, was performed in those with one likely disease-causing change. Overall, 23 of 186 probands (discovery cohort) were found to harbour two likely disease-causing variants in USH2A. Some of these variants were predominantly associated with nonsyndromic retinal degeneration (‘retinal disease-specific'); these included the common c.2276 G>T, p.(Cys759Phe) mutation and five additional variants: c.2802 T>G, p.(Cys934Trp); c.10073 G>A, p.(Cys3358Tyr); c.11156 G>A, p.(Arg3719His); c.12295-3 T>A; and c.12575 G>A, p.(Arg4192His). An allelic hierarchy was observed in the discovery cohort and confirmed in the replication cohort. In nonsyndromic USH2A disease, retinopathy was consistent with retinitis pigmentosa and the audiological phenotype was variable. USH2A retinopathy is a common cause of nonsyndromic recessive retinal degeneration and has a different mutational spectrum to that observed in Usher syndrome. The following model is proposed: the presence of at least one ‘retinal disease-specific' USH2A allele in a patient with USH2A-related disease results in the preservation of normal hearing. Careful genotype–phenotype studies such as this will become increasingly important, especially now that high-throughput sequencing is widely used in the clinical setting. PMID:25649381

  16. Genetics of syndromic and non-syndromic mitral valve prolapse.

    Science.gov (United States)

    Le Tourneau, Thierry; Mérot, Jean; Rimbert, Antoine; Le Scouarnec, Solena; Probst, Vincent; Le Marec, Hervé; Levine, Robert A; Schott, Jean-Jacques

    2018-01-19

    Mitral valve prolapse (MVP) is a common condition that affects 2%-3% of the general population. MVP is thought to include syndromic forms such as Marfan syndrome and non-syndromic MVP, which is the most frequent form. Myxomatous degeneration and fibroelastic deficiency (FED) are regarded as two different forms of non-syndromic MVP. While FED is still considered a degenerative disease associated with ageing, frequent familial clustering has been demonstrated for myxomatous MVP. Familial and genetic studies led to the recognition of reduced penetrance and large phenotypic variability, and to the identification of prodromal or atypical forms as a part of the complex spectrum of the disease. Whereas autosomal dominant mode is the common inheritance pattern, an X linked form of non-syndromic MVP was recognised initially, related to Filamin-A gene, encoding for a cytoskeleton protein involved in mechanotransduction. This identification allowed a comprehensive description of a new subtype of MVP with a unique association of leaflet prolapse and paradoxical restricted motion in diastole. In autosomal dominant forms, three loci have been mapped to chromosomes 16p11-p12, 11p15.4 and 13q31-32. Although deciphering the underlying genetic defects is still a work in progress, DCHS1 mutations have been identified (11p15.4) in typical myxomatous disease, highlighting new molecular pathways and pathophysiological mechanisms leading to the development of MVP. Finally, a large international genome-wide association study demonstrated the implication of frequent variants in MVP development and opened new directions for future research. Hence, this review focuses on phenotypic, genetic and pathophysiological aspects of MVP. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  17. DEAFNESS, RETELLING AND READER FOMATION

    Directory of Open Access Journals (Sweden)

    José Marcos Rosendo de Souza

    2016-07-01

    Full Text Available Research on formation of readers has raised some discussions and change of atitudes, to the development of full readers. But, the methodologies that strive for proficiency of Deaf readers there are scarse. We intend to discuss in this article the formation of a reader Deaf through from an interventional research, with cognitive approach. The reader formation of Deaf will be possible with appropriate method to their peculiarities.

  18. Identification of a novel homozygous mutation in MYO3A in a Chinese family with DFNB30 non-syndromic hearing impairment.

    Science.gov (United States)

    Qu, Ronggui; Sang, Qing; Xu, Yao; Feng, Ruizhi; Jin, Li; He, Lin; Wang, Lei

    2016-05-01

    Hearing loss is a common sensory impairment. Several genetic loci or genes responsible for non-syndrome hearing loss have been identified, including the well-known deafness genes GJB2, MT-RNR1 and SLC26A4. MYO3A belongs to the myosin superfamily. Previously only three mutations in this gene have been found in an Isreali family with DFNB30, in which patients demonstrated progressive hearing loss. In this study, we characterized a consanguineous Kazakh family with congenital hearing loss. By targeted sequence capture and next-generation sequencing, we identified a homozygous mutation and did bioinformatics analysis to this mutation. A homozygous mutation, MYO3A:c.1841C>T (p.S614F), was identified to be responsible for the disease. Ser614 is located in the motor domain of MYO3A that is highly conserved among different species. Molecular modeling predicts that the conserved Ser614 may play an important role in maintaining the stability of β-sheet and the interaction between neighboring β-strand. This is the second report on MYO3A mutations in deafness and the first report in China. The finding help facilitate establishing a better relationship between MYO3A mutation and hearing phenotypes. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  19. Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform

    Directory of Open Access Journals (Sweden)

    De Keulenaer Sarah

    2012-05-01

    Full Text Available Abstract Background Hereditary hearing loss (HL can originate from mutations in one of many genes involved in the complex process of hearing. Identification of the genetic defects in patients is currently labor intensive and expensive. While screening with Sanger sequencing for GJB2 mutations is common, this is not the case for the other known deafness genes (> 60. Next generation sequencing technology (NGS has the potential to be much more cost efficient. Published methods mainly use hybridization based target enrichment procedures that are time saving and efficient, but lead to loss in sensitivity. In this study we used a semi-automated PCR amplification and NGS in order to combine high sensitivity, speed and cost efficiency. Results In this proof of concept study, we screened 15 autosomal recessive deafness genes in 5 patients with congenital genetic deafness. 646 specific primer pairs for all exons and most of the UTR of the 15 selected genes were designed using primerXL. Using patient specific identifiers, all amplicons were pooled and analyzed using the Roche 454 NGS technology. Three of these patients are members of families in which a region of interest has previously been characterized by linkage studies. In these, we were able to identify two new mutations in CDH23 and OTOF. For another patient, the etiology of deafness was unclear, and no causal mutation was found. In a fifth patient, included as a positive control, we could confirm a known mutation in TMC1. Conclusions We have developed an assay that holds great promise as a tool for screening patients with familial autosomal recessive nonsyndromal hearing loss (ARNSHL. For the first time, an efficient, reliable and cost effective genetic test, based on PCR enrichment, for newborns with undiagnosed deafness is available.

  20. Is Celiac Disease an Etiological Factor in Children with Nonsyndromic Intellectual Disability?

    Science.gov (United States)

    Sezer, Taner; Balcı, Oya; Özçay, Figen; Bayraktar, Nilufer; Alehan, Füsun

    2016-03-01

    To determine the prevalence of celiac disease in children and adolescents with nonsyndromic intellectual disability, we investigated serum levels of tissue transglutaminase antibody and total IgA from 232 children with nonsyndromic intellectual disability and in a healthy control group of 239 children. Study participants who were positive for tissue transglutaminase antibody underwent a duodenal biopsy. A total of 3 patients in the nonsyndromic intellectual disability group (5.45%) and 1 in the control group (0.41%) had positive serum tissue transglutaminase antibody (P > .05). Duodenal biopsy confirmed celiac disease in only 1 patient who had nonsyndromic intellectual disability. In this present study, children with nonsyndromic intellectual disability did not exhibit a higher celiac disease prevalence rate compared with healthy controls. Therefore, we suggest that screening test for celiac disease should not be necessary as a part of the management of mild and moderate nonsyndromic intellectual disability. However, cases of severe nonsyndromic intellectual disability could be examined for celiac disease. © The Author(s) 2015.

  1. Retinitis pigmentosa and deafness.

    OpenAIRE

    Mills, R P; Calver, D M

    1987-01-01

    Seventeen patients with retinitis pigmentosa (RP) have been investigated audiologically. Of 9 found to have a significant hearing loss, 6 were examples of Usher's syndrome; these patients had a cochlear pattern of hearing loss. The other 3 were examples of Senior's syndrome, Kearne-Sayre syndrome and Lawrence-Moon-Biedle syndrome respectively. Two of these patients had absent stapedius reflexes. It is suggested that patients with different RP-deafness syndromes may have lesions in different p...

  2. Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F.

    Science.gov (United States)

    Ammar-Khodja, Fatima; Faugère, Valérie; Baux, David; Giannesini, Claire; Léonard, Susana; Makrelouf, Mohamed; Malek, Rahia; Djennaoui, Djamel; Zenati, Akila; Claustres, Mireille; Roux, Anne-Françoise

    2009-01-01

    A systematic approach, involving haplotyping and genotyping, to the molecular diagnosis of non-syndromic deafness within 50 families and 9 sporadic cases from Algeria is described. Mutations at the DFNB1 locus (encompassing the GJB2 and GJB6 genes) are responsible for more than half of autosomal recessive prelingual non-syndromic deafness in various populations. A c.35delG mutation can account for up to 85% of GJB2 mutations and two large deletions del(GJB6-D13S1830) and del(GJB6-D13S1854) have also been reported in several population groups. In view of the genetic heterogeneity a strategy was developed which involved direct analysis of DFNB1. In negative familial cases, haplotype analysis was carried out, where possible, to exclude DFNB1 mutations. Following this, haplotype analysis of five Usher syndrome loci, sometimes involved in autosomal non-syndromic hearing loss, was carried out to identify cases in which Usher gene sequencing was indicated. When homozygosity was observed at a locus in a consanguineous family, the corresponding gene was exhaustively sequenced. Pathogenic DFNB1 genotypes were identified in 40% of the cases. Of the 21 cases identified with 2 pathogenic mutations, c.35delG represented 76% of the mutated alleles. The additional mutations were one nonsense, two missense and one splicing mutation. Four additional patients were identified with a single DFNB1 mutation. None carried the large deletions. Three families with non-syndromic deafness carried novel unclassified variants (UVs) in MYO7A (1 family) and CDH23 (2 families) of unknown pathogenic effect. Additionally, molecular diagnosis was carried out on two Usher type I families and pathogenic mutations in MYO7A and PCDH15 were found.

  3. Molecular and Clinical Studies of X-linked Deafness Among Pakistani Families

    Science.gov (United States)

    Waryah, Ali M.; Ahmed, Zubair M.; Choo, Daniel I.; Sisk, Robert A.; Binder, Munir A.; Shahzad, Mohsin; Khan, Shaheen N.; Friedman, Thomas B.; Riazuddin, Sheikh; Riazuddin, Saima

    2011-01-01

    There are 68 sex-linked syndromes that include hearing loss as one feature and five sex-linked nonsyndromic deafness loci listed in the OMIM database. The possibility of additional such sex-linked loci was explored by ascertaining three unrelated Pakistani families (PKDF536, PKDF1132, PKDF740) segregating X-linked recessive deafness. Sequence analysis of POU3F4 (DFN3) in affected members of families PKDF536 and PKDF1132 revealed two novel nonsense mutations, p.Q136X and p.W114X, respectively. Family PKDF740 is segregating congenital blindness, mild to profound progressive hearing loss that is characteristic of Norrie disease (MIM#310600). Sequence analysis of NDP among affected members of this family revealed a novel single nucleotide deletion c.49delG causing a frameshift and premature truncation (p.V17fsX1) of the encoded protein. These mutations were not found in 150 normal DNA samples. Identification of pathogenic alleles causing X-linked recessive deafness will improve molecular diagnosis, genetic counseling, and molecular epidemiology of hearing loss among Pakistanis. PMID:21633365

  4. Molecular and clinical studies of X-linked deafness among Pakistani families.

    Science.gov (United States)

    Waryah, Ali M; Ahmed, Zubair M; Bhinder, Munir A; Binder, Munir A; Choo, Daniel I; Sisk, Robert A; Shahzad, Mohsin; Khan, Shaheen N; Friedman, Thomas B; Riazuddin, Sheikh; Riazuddin, Saima

    2011-07-01

    There are 68 sex-linked syndromes that include hearing loss as one feature and five sex-linked nonsyndromic deafness loci listed in the OMIM database. The possibility of additional such sex-linked loci was explored by ascertaining three unrelated Pakistani families (PKDF536, PKDF1132 and PKDF740) segregating X-linked recessive deafness. Sequence analysis of POU3F4 (DFN3) in affected members of families PKDF536 and PKDF1132 revealed two novel nonsense mutations, p.Q136X and p.W114X, respectively. Family PKDF740 is segregating congenital blindness, mild-to-profound progressive hearing loss that is characteristic of Norrie disease (MIM#310600). Sequence analysis of NDP among affected members of this family revealed a novel single nucleotide deletion c.49delG causing a frameshift and premature truncation (p.V17fsX1) of the encoded protein. These mutations were not found in 150 normal DNA samples. Identification of pathogenic alleles causing X-linked recessive deafness will improve molecular diagnosis, genetic counseling and molecular epidemiology of hearing loss among Pakistanis.

  5. Anger communication in deaf children

    NARCIS (Netherlands)

    Rieffe, C.J.; Meerum Terwogt, M.

    2006-01-01

    In this study, we investigated how deaf children express their anger towards peers and with what intentions. Eleven-year-old deaf children (n = 21) and a hearing control group (n = 36) were offered four vignettes describing anger-evoking conflict situations with peers. Children were asked how they

  6. Identity development in deaf adolescents

    NARCIS (Netherlands)

    Kunnen, E. Saskia

    2014-01-01

    We studied identity development during 5 years in 11 deaf adolescents who attend a school for deaf children in the highest level of regular secondary education (age between 14 and 19 years). Identity development is conceptualized by the processes of exploration and commitment formation, as

  7. Identity Development in Deaf Adolescents

    Science.gov (United States)

    Kunnen, E. Saskia

    2014-01-01

    We studied identity development during 5 years in seven deaf adolescents who attended a school for deaf children in the highest level of regular secondary education (age between 14 and 18 years), administering identity interviews every year. Identity development is conceptualized as the processes of exploration and commitment formation (Bosma,…

  8. Rhythm Deficits in "Tone Deafness"

    Science.gov (United States)

    Foxton, Jessica M.; Nandy, Rachel K.; Griffiths, Timothy D.

    2006-01-01

    It is commonly observed that "tone deaf" individuals are unable to hear the beat of a tune, yet deficits on simple timing tests have not been found. In this study, we investigated rhythm processing in nine individuals with congenital amusia ("tone deafness") and nine controls. Participants were presented with pairs of 5-note sequences, and were…

  9. Hypothesis of K+-Recycling Defect Is Not a Primary Deafness Mechanism for Cx26 (GJB2 Deficiency

    Directory of Open Access Journals (Sweden)

    Hong-Bo Zhao

    2017-05-01

    Full Text Available K+-recycling defect is a long-standing hypothesis for deafness mechanism of Connexin26 (Cx26, GJB2 mutations, which cause the most common hereditary deafness and are responsible for >50% of nonsyndromic hearing loss. The hypothesis states that Cx26 deficiency may disrupt inner ear gap junctions and compromise sinking and recycling of expelled K+ ions after hair cell excitation, causing accumulation of K+-ions in the extracellular space around hair cells producing K+-toxicity, which eventually induces hair cell degeneration and hearing loss. However, this hypothesis has never been directly evidenced, even though it has been widely referred to. Recently, more and more experiments demonstrate that this hypothesis may not be a deafness mechanism underlying Cx26 deficiency. In this review article, we summarized recent advances on the K+-recycling and mechanisms underlying Cx26 deficiency induced hearing loss. The mechanisms underlying K+-sinking, which is the first step for K+-recycling in the cochlea, and Cx26 deficiency induced cochlear developmental disorders, which are responsible for Cx26 deficiency induced congenital deafness and associated with disruption of permeability of inner ear gap junctional channels to miRNAs, are also summarized and discussed.

  10. The Deaf Child as a Linguistic Minority.

    Science.gov (United States)

    Charrow, Veda R.; Wilbur, Ronnie B.

    The author offers support for viewing the deaf child as a member of a linguistic minority and considers how this situation affects education of the deaf. Deaf persons are discussed in terms of their intellectual abilities, educational achievement, English competence, and the sociolinguistic factors which point to the existence of a deaf community.…

  11. Characteristics of children and adolescents in the Dutch national in- and outpatient mental health service for deaf and hard of hearing youth over a period of 15 years.

    Science.gov (United States)

    van Gent, Tiejo; Goedhart, Arnold W; Treffers, Philip D A

    2012-01-01

    In this study socio-demographic, deafness-related and diagnostic characteristics of hearing impaired children and adolescents referred to a national mental health service for deaf and hard of hearing children and adolescents were examined. Socio-demographic and diagnostic characteristics were compared to corresponding characteristics of hearing referred peers with identified mental health problems. The difference in characteristics between them and hearing referred peers with identified mental health problems was analyzed. A total of 389 deaf and hard of hearing and 3361 hearing children and adolescents was extracted from a database, all first referrals of patients of a center for child and adolescent psychiatry over a 15-year period. With deaf and hard of hearing patients we found higher rates of environmental stress, as indicated by conditions such as more one parent families (38.6% versus 25.8%), and more parents with a low educational level (44.2% versus 31.1%). Moreover, deaf and hard of hearing patients were older at their first referral (10.8 versus 9.4 years) and had higher rates of pervasive developmental disorders (23.7% versus 12.3%) and mental retardation (20.3% versus 3.9%). Within the target group of deaf and hard of hearing patients, most patients were deaf (68.9%; 22.3% was severely hard of hearing), relatively few (13.7%) had a non-syndromal hereditary hearing impairment, and more (21.3%) had a disabling physical health condition, especially those with a pervasive developmental disorder (42.6%). These findings illustrate both the complexity of the problems of deaf and hard of hearing children and adolescents referred to specialist mental health services, and the need for preventive interventions aimed at early recognition. Copyright © 2012 Elsevier Ltd. All rights reserved.

  12. Studies on deaf mobile application

    Science.gov (United States)

    Nathan, Shelena Soosay; Hussain, Azham; Hashim, Nor Laily

    2016-08-01

    The deaf normally considered to be disabled that do not need any mobile technology due to the inabilities of hearing and talking. However, many deaf are using mobile phone in their daily life for various purposes such as communication and learning. Many studies have attempted to identify the need of deaf people in mobile application and level of usage of the applications. This study aims in studying the recent research conducted on deaf mobile application to understand the level of importance of mobile technology for this disabled community. This paper enable identification of studies conducted are limited and the need of more research done of this disabled people to ensure their privilege of using mobile technology and its application, which leads to the identification of deaf user requirement for mobile application as future study.

  13. Testing the face shape hypothesis in twins discordant for nonsyndromic orofacial clefting

    DEFF Research Database (Denmark)

    Roosenboom, Jasmien; Indencleef, Karlijne; Hens, Greet

    2017-01-01

    Nonsyndromic orofacial clefts (OFCs) are complex traits characterized by multifactorial inheritance and wide phenotypic variability. Numerous studies have shown subtle differences in the faces of unaffected relatives from cleft families compared to controls, the implication being that such outwar...

  14. The Identity of Czech Deaf Roma

    OpenAIRE

    Kalousová, Josefina

    2012-01-01

    With the definition of Deaf people as a cultural and linguistic minority the research of Deaf identity became possible. Following this, questions of identity of minority deaf persons emerged. Do these persons affiliate to the Deaf community or to their ethnic minority? This bachelor thesis focuses on the topic of Czech deaf Roma identity. The underlying assumption of the paper is that identity is a continuing process dependent on the interaction of an individual and society and that it consti...

  15. The First Survey of Distribution of Inherited Deafness Patterns in Individuals Referred to Genetic Center of Ahvaz Welfare Organization, Southern Iran

    Directory of Open Access Journals (Sweden)

    Gholamreza Mohammadian

    2011-09-01

    Full Text Available Background and Aim: Deafness is a heterogeneous disorder induced by genetic and environmental factors. It is the most common hereditary sensory-neural disorder that affects 1/1000 to 1/2000 of the newborns. More than 70% of hearing loss cases are caused by genetic disorders, 85% of which result from nonsyndromic autosomal recessive sensory-neural hearing loss. Up to now, more than 100 genes contributing in hearing loss have been determined. Alteration of these genes may result in hearing loss.This study was performed to identify the inheritance patterns of deafness and its relation with ethnicity, gender and consanguineous marriages.Methods: In this survey, data from 356 families affected by hearing loss and referred to welfare organization of Ahvaz during the time were collected based on sex, ethnic groups and relativeness.Results: The results state a high frequency of autosomal recessive deafness caused by consanguineous marriages within Arab and non-Arab ethnic groups (p<0.05. But no significant difference in gender."nConclusion: In conclusion, the high frequency of autosomal recessive deafness among the population with a high frequency of consanguineous marriages is considerable. The dominant pattern of deafness observed in this population was autosomal recessive.

  16. Fostering Positive Deaf Identity Development in a K-2 Deaf Classroom /

    OpenAIRE

    Hipskind, Courtney

    2014-01-01

    All Deaf children deserve to have opportunities to openly explore, examine, and affirm their own Deaf identities at school, yet there is a shortage of curricula and resources dedicated to this basic need. The aim of this thesis is to provide Deaf children with such opportunities. The curriculum within- Fostering Deaf Identity Development in a K-2 Deaf Classroom- consists of two units that address positive Deaf identity formation. The first unit focuses on the characterization and affirmation ...

  17. Goiter and deaf mutism.

    Science.gov (United States)

    Thieme, E T

    1975-08-01

    The occurrence of deaf-mutism and goiter unassocaited with creatinism or mental retardation in euthyroid patients is known as Pendred's Syndrome. It is considered due to a single mutant recessive gene responsible for both the goiter and deafness. The penetrance is high, the intenseness of expressivity may vary within the same family and only one generation is affected. The extremely atypical hyperplasia seen in such goiters has been considered malignant. In 1956 the author reported a family in which 4 of 6 sibilings demonstrated Pendred's Syndrome. Three of the 4 had undergone thyroidectomy, two were considered to have carcinoma. Nineteen years later the family is again reported. The fourth sibling has recently undergone thyroidectomy. This thyroid demonstrated the same atypical hyperplasia as seen in the elder two siblings. The 19 year followup of this family has shown no evidence of recurrence or metastases, indicating that the atypical hyperplasia is probably not malignant. Pendred's Syndrome is described and certain suggestions are made for the counseling of the parents and the treatment and counseling of those children so afflicted.

  18. Deaf not Daft: The Deaf in Mental Subnormality Hospitals.

    Science.gov (United States)

    Williams, Chris

    1982-01-01

    Case studies of deaf or hearing impaired persons in institutions for the mentally retarded illustrate the ways in which the "invisible handicap" can mask cognitive ability, causing unnecessary institutionalization. (CL)

  19. Overview on Deaf-Blindness

    Science.gov (United States)

    ... of Deaf-Blind Education Transition to Adulthood > Transition Self Determination Person Centered Planning Postsecondary Education Independent Living Employment Customized Employment Sex Education Adult Services Technology Personnel > Intervener Services Support ...

  20. Psychodramatic Treatment for Deaf People.

    Science.gov (United States)

    Swink, David F.

    1985-01-01

    The article describes how psychodrama is used in group psychotherapy and in social skills groups with deaf persons. In addition, videotape replay is described as an adjunct to psychodramatic treatment. (Author/CL)

  1. Epistemologies, deafness, learning, and teaching.

    Science.gov (United States)

    Moores, Donald F

    2010-01-01

    The study of Deaf epistemologies is in a nascent stage relative to, e.g., the study of feminist or African American epistemologies. It has only recently begun attracting the widespread attention it deserves. The present article addresses Deaf epistemologies as they relate to the sometimes conflicting trends in American society and education. In a relatively short period, the education of deaf students has gone from an independent enterprise under the aegis of special education to heavy influence by No Child Left Behind legislation that applies to virtually all American students. American education at one and the same time embraces and celebrates diversity, imposes uniform, rigid learning standards for all children, and mandates that all children be tested in the same way. An oxymoron exists of individualized educational planning and one-size-fits-all curricula and assessment of academic achievement. Implications for teaching and learning of deaf students are explored.

  2. 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

    International Nuclear Information System (INIS)

    Wang Qiuju; Li Qingzhong; Han Dongyi; Zhao Yali; Zhao Lidong; Qian Yaping; Yuan Hu; Li Ronghua; Zhai Suoqiang; Young Wieyen; Guan Minxin

    2006-01-01

    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

  3. Examining a Sample of Black Deaf Individuals on the Deaf Acculturation Scale

    Science.gov (United States)

    Nelson Schmitt, Shawn S.; Leigh, Irene W.

    2015-01-01

    The current study sought to identify and analyze how Black deaf and hard-of-hearing people conceptualize their deaf and hard-of-hearing identities. That is, what cultural and linguistic factors are involved and how do they interact? An existing measure of Deaf cultural identity, the Deaf Acculturation Scale (DAS), was used to evaluate these…

  4. Joining the Diaspora of Deaf Memoirists: A Personal Account of Writing Deafness

    Science.gov (United States)

    McDonald, Donna

    2014-01-01

    In this essay, the author describes how, and why, she tackled a lifetime of questions about her deafness and experiences of being deaf by writing a memoir called The Art of Being Deaf. While researching her memoir, the author discovered that the questions about her deafness that she most needed to answer were her own. Having first read many…

  5. Joining the diaspora of deaf memoirists: a personal account of writing deafness.

    Science.gov (United States)

    McDONALD, Donna

    2014-01-01

    In this essay, the author describes how, and why, she tackled a lifetime of questions about her deafness and experiences of being deaf by writing a memoir called The Art of Being Deaf. While researching her memoir, the author discovered that the questions about her deafness that she most needed to answer were her own. Having first read many memoirs by other deaf writers and novels with deaf characters, the author set about composing her own narrative of deafness in a fresh way. She not only came to an improved understanding of her deaf self, but grew into a more authentic understanding of her whole self, reconciling her memories of the deaf girl she once was with the adult deaf woman she is now. The author illustrates how the act of writing a memoir can be an important tool in resolving questions of identity.

  6. Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?

    Directory of Open Access Journals (Sweden)

    Manuel Schiff

    Full Text Available BACKGROUND: In the investigation of autism spectrum disorders (ASD, a genetic cause is found in approximately 10-20%. Among these cases, the prevalence of the rare inherited metabolic disorders (IMD is unknown and poorly evaluated. An IMD responsible for ASD is usually identified by the associated clinical phenotype such as dysmorphic features, ataxia, microcephaly, epilepsy, and severe intellectual disability (ID. In rare cases, however, ASD may be considered as nonsyndromic at the onset of a related IMD. OBJECTIVES: To evaluate the utility of routine metabolic investigations in nonsyndromic ASD. PATIENTS AND METHODS: We retrospectively analyzed the results of a metabolic workup (urinary mucopolysaccharides, urinary purines and pyrimidines, urinary creatine and guanidinoacetate, urinary organic acids, plasma and urinary amino acids routinely performed in 274 nonsyndromic ASD children. RESULTS: The metabolic parameters were in the normal range for all but 2 patients: one with unspecific creatine urinary excretion and the other with persistent 3-methylglutaconic aciduria. CONCLUSIONS: These data provide the largest ever reported cohort of ASD patients for whom a systematic metabolic workup has been performed; they suggest that such a routine metabolic screening does not contribute to the causative diagnosis of nonsyndromic ASD. They also emphasize that the prevalence of screened IMD in nonsyndromic ASD is probably not higher than in the general population (<0.5%. A careful clinical evaluation is probably more reasonable and of better medical practice than a costly systematic workup.

  7. Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism.

    Science.gov (United States)

    Schulze, Andreas; Bauman, Margaret; Tsai, Anne Chun-Hui; Reynolds, Ann; Roberts, Wendy; Anagnostou, Evdokia; Cameron, Jessie; Nozzolillo, Alixandra A; Chen, Shiyi; Kyriakopoulou, Lianna; Scherer, Stephen W; Loh, Alvin

    2016-01-01

    Creatine deficiency may play a role in the neurobiology of autism and may represent a treatable cause of autism. The goal of the study was to ascertain the prevalence of creatine deficiency syndromes (CDSs) in children with autism spectrum disorder (ASD). In a prospective multicenter study, 443 children were investigated after a confirmed diagnosis of ASD. Random spot urine screening for creatine metabolites (creatine, guanidinoacetate, creatinine, and arginine) with liquid chromatography-tandem mass spectrometry and second-tier testing with high-performance liquid chromatography methodology was followed by recall testing in 24-hour urines and confirmatory testing by Sanger-based DNA sequencing of GAMT, GATM, and SLC6A8 genes. Additional diagnostic tests included plasma creatine metabolites and in vivo brain proton magnetic resonance spectroscopy. The creatine metabolites in spot urine in the autism group were compared with 128 healthy controls controlled for age. In 443 subjects with ASD investigated for CDS, we had 0 events (event: 0, 95% confidence interval 0-0.0068), therefore with 95% confidence the prevalence of CDS is creatine metabolites (P > .0125) in urine. Our study revealed a very low prevalence of CDS in children with nonsyndromic ASD and no obvious association between creatine metabolites and autism. Unlike our study population, we expect more frequent CDS among children with severe developmental delay, speech impairment, seizures, and movement disorders in addition to impairments in social communication, restricted interests, and repetitive behaviors. Copyright © 2016 by the American Academy of Pediatrics.

  8. Apartheid in Deaf Education: Examining Workforce Diversity

    Science.gov (United States)

    Simms, Laurene; Rusher, Melissa; Andrews, Jean F.; Coryell, Judy

    2008-01-01

    A survey of 3,227 professionals in 313 deaf education programs found that 22.0% of teachers and 14.5% of administrators were deaf--a less than 10% increase in deaf professionals since 1993. Additionally, 21.7% of teachers and 6.1% of administrators were professionals of color. Of these minority teachers, only 2.5% were deaf persons of color. Only…

  9. Deaf on the Lifeline of Mumbai

    Science.gov (United States)

    Kusters, Annelies

    2009-01-01

    This article is a result of my MSc Deaf Studies dissertation that is situated on an intersection between Deaf geography, anthropology and Deafhood theory. During five weeks of participatory observation and interviews in Mumbai, my attention was drawn to the city's lifeline: the suburban train system. It appeared that Deaf people tend to travel in…

  10. A Psycholinguistic Analysis of "Deaf English."

    Science.gov (United States)

    Charrow, Veda R.

    The purpose of this study was to identify and provide normative data for weighting of those nonstandard linguistic features that make up deaf English. Subjects were prelingually or congenitally deaf high school students from the California School for the Deaf and a control group of normal-hearing fourth graders from a California public school.…

  11. Deafness and the Riddle of Identity

    Science.gov (United States)

    Davis, Lennard J.

    2007-01-01

    In the past, much discrimination against deaf people was based on the assumption that they were in fact people without language--that is, dumb. "Dumb" carried the sense of being not only mute but also stupid, as in a "dumb" animal. The status of deaf people has changed in important ways, as deaf activists and scholars have reshaped the idea of…

  12. Understanding Deaf Readers: An Interpretative Phenomenological Analysis

    Science.gov (United States)

    Kelstone, Aaron Weir

    2013-01-01

    The development of reading skills, beyond a functional level, is difficult for most deaf readers. Standardized testing demonstrates a median 4th grade reading level that remains consistent even after national norming of the Stanford Achievement test on the population of deaf school children. Deaf education continues to generate various educational…

  13. Development of Deaf Identity: An Ethnographic Study

    Science.gov (United States)

    McIlroy, Guy; Storbeck, Claudine

    2011-01-01

    This ethnographic study explores the identity development of 9 deaf participants through the narratives of their educational experiences in either mainstream or special schools for the Deaf. This exploration goes beyond a binary conceptualization of deaf identity that allows for only the medical and social models and proposes a bicultural…

  14. Ethics, Deafness, and New Medical Technologies

    Science.gov (United States)

    Hintermair, Manfred; Albertini, John A.

    2005-01-01

    In the last 50 years, several new technologies have become enormously important within the Deaf community and have helped significantly to improve deaf people's lives in a hearing world. Current public attention and admiration, however, seems unduly focused on medical technologies that promise to solve "the problem" of being deaf. One reason for…

  15. Deaf child sexual education and family leadership

    Directory of Open Access Journals (Sweden)

    García, Mirna Maura

    2010-07-01

    Full Text Available This paper is an approach to the study of the role of the family in sexual education of deaf children and adolescents. The difference between hearing and deaf families is taken into consideration. Likewise, hints that favor communication between deaf children and hearing parents are given.

  16. The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans

    Directory of Open Access Journals (Sweden)

    Ah Reum Kim

    2017-10-01

    Full Text Available We performed targeted re-sequencing to identify the genetic etiology of early-onset postlingual deafness and encountered a frequent TMPRSS3 allele harboring two variants in a cis configuration. We aimed to evaluate the pathogenicity of the allele. Among 88 cochlear implantees with autosomal recessive non-syndromic hearing loss, subjects with GJB2 and SLC26A4 mutations were excluded. Thirty-one probands manifesting early-onset postlingual deafness were sorted. Through targeted re-sequencing, we detected two families with a TMPRSS3 mutant allele containing p.V116M and p.V291L in a cis configuration, p.[p.V116M; p.V291L]. A minor allele frequency was calculated and proteolytic activity was measured. A p.[p.V116M; p.V291L] allele demonstrated a significantly higher frequency compared to normal controls and merited attention due to its high frequency (4.84%, 3/62. The first family showed a novel deleterious splice site variant—c.783-1G>A—in a trans allele, while the other showed homozygosity. The progression to deafness was noted within the first decade, suggesting DFNB10. The proteolytic activity was significantly reduced, confirming the severe pathogenicity. This frequent mutant allele significantly contributes to early-onset postlingual deafness in Koreans. For clinical implication and proper auditory rehabilitation, it is important to pay attention to this allele with a severe pathogenic potential.

  17. A rare nonsyndromic presentation of bilateral doughnut shaped lip pits in an Indian child

    Directory of Open Access Journals (Sweden)

    Senthil Balasubramani

    2016-01-01

    Full Text Available Lip pits are a rare congenital anomaly that presents on the upper or lower lip or the commissure of the lips. Lip pits are an autosomal dominant trait occurring almost always in association with cleft lip or palate. They most commonly occur in association with developmental disturbances such as Van der Woude's syndrome, popliteal pterygium syndrome, oro-facial-digital syndrome, Marres-Cremers syndrome, and Hirschsprung disease. Its occurrence in nonsyndromic individuals is extremely rare with only a handful of cases reported. The identification of lip pits with other associated anomalies is crucial for genetic counseling; we report a case of nonsyndromic presentation of bilateral lip pits.

  18. Deaf Education in a Planetarium

    Science.gov (United States)

    Liu, Muxue; Hintz, E. G.; Jones, M.; Lawler, J.; Fisler, A.; Mumford, H.

    2013-01-01

    Over the years we have struggled with the difficulty of giving a planetarium show to a deaf audience. This is especially true for a younger audience with limited reading abilities. You must illuminate the ASL signer which causes light splash onto the dome. You must slow the presentation down to allow for time to interpret and then point. A slower presentation can have an adverse impact on the learning of the hearing students if the presentation is made to a mixed audience. To address these issues, we are currently working on methods to improve deaf education in a planetarium environment. We will present an overview of the current project along with efforts to establish baselines comprehension levels for both deaf and hearing children. This work is partially funded by an NSF IIS-1124548 grant and funding from the Sorenson Foundation.

  19. Deafness and motor abilities level

    Directory of Open Access Journals (Sweden)

    A Zwierzchowska

    2008-09-01

    Full Text Available The audition injury hinders some motor motions and the organised coordination at the higher level and may be a cause of disturbances and disorder in some motor abilities adoption. It was assumed that deafness including its aetiology and injury mechanism may significantly influence the motor development of human being. The study aimed in checking if the deafness, as a result of various unfavourable factors, determines the motor development of children and youngsters. Consequently the dependency between qualitative features i.e.: signed motor level and aetiology, audition injury mechanism and the deafness degree was examined. The mechanism and aetiology of hearing correlated with the motor abilities displayed statistically significant dependencies in few motor trials only. Revealed correlations regarded mostly the coordination trials excluding the flexibility one. Statistically significant dependencies between the audition diminution and the motor abilities level were not found.

  20. A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.

    Directory of Open Access Journals (Sweden)

    Zhijie Niu

    Full Text Available X-linked hearing impairment is the rarest form of genetic hearing loss (HL and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked inherited sensorineural HL in a four-generation Chinese family. A novel duplication variant (c.217dupA, p.Ile73Asnfs*5 in SMPX was identified by whole-exome sequencing. The frameshift mutation predicted to result in the premature truncation of the SMPX protein was co-segregated with the HL phenotype and was absent in 295 normal controls. Subpopulation screening of the coding exons and flanking introns of SMPX was further performed for 338 Chinese patients with nonsydromic HL by Sanger sequencing, and another two potential causative substitutions (c.238C>A and c.55A>G in SMPX were identified in additional sporadic cases of congenital deafness. Collectively, this study is the first to report the role of SMPX in Chinese population and identify a novel frameshift mutation in SMPX that causes not only nonsyndromic late-onset progressive HL, but also congenital hearing impairment. Our findings extend the mutation and phenotypic spectrum of the SMPX gene.

  1. Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting.

    Science.gov (United States)

    Howe, B J; Cooper, M E; Vieira, A R; Weinberg, S M; Resick, J M; Nidey, N L; Wehby, G L; Marazita, M L; Moreno Uribe, L M

    2015-07-01

    Children with oral clefts show a wide range of dental anomalies, adding complexity to understanding the phenotypic spectrum of orofacial clefting. The evidence is mixed, however, on whether the prevalence of dental anomalies is elevated in unaffected relatives and is mostly based on small samples. In the largest international cohort to date of children with nonsyndromic clefts, their relatives, and controls, this study characterizes the spectrum of cleft-related dental anomalies and evaluates whether families with clefting have a significantly higher risk for such anomalies compared with the general population. A total of 3,811 individuals were included: 660 cases with clefts, 1,922 unaffected relatives, and 1,229 controls. Dental anomalies were identified from in-person dental exams or intraoral photographs, and case-control differences were tested using χ(2) statistics. Cases had higher rates of dental anomalies in the maxillary arch than did controls for primary (21% vs. 4%, P = 3 × 10(-8)) and permanent dentitions (51% vs. 8%, P = 4 × 10(-62)) but not in the mandible. Dental anomalies were more prevalent in cleft lip with cleft palate than other cleft types. More anomalies were seen in the ipsilateral side of the cleft. Agenesis and tooth displacements were the most common dental anomalies found in case probands for primary and permanent dentitions. Compared with controls, unaffected siblings (10% vs. 2%, P = 0.003) and parents (13% vs. 7%, P = 0.001) showed a trend for increased anomalies of the maxillary permanent dentition. Yet, these differences were nonsignificant after multiple-testing correction, suggesting genetic heterogeneity in some families carrying susceptibility to both overt clefts and dental anomalies. Collectively, the findings suggest that most affected families do not have higher genetic risk for dental anomalies than the general population and that the higher prevalence of anomalies in cases is primarily a physical consequence of the

  2. "Quality of Life in Adults with Non-Syndromic Craniosynostosis".

    Science.gov (United States)

    Mazzaferro, Daniel M; Naran, Sanjay; Wes, Ari M; Magee, Leanne; Taylor, Jesse A; Bartlett, Scott P

    2018-03-19

    While studies have analyzed quality of life (QOL) in children with non-syndromic craniosynostosis (NSC), to date nobody has investigated long-term QOL in adults with NSC. The purpose of this study is to compare QOL in adult NSC patients with a cohort of unaffected controls. We queried our institution's prospectively maintained craniofacial registry for NSC patients 18 years and older, and administered the validated World Health Organization Quality of Life (WHOQOL-BREF) questionnaire. Responses were compared, using a two-sample t-test, to an age-matched, United States, normative database provided by the World Health Organization (WHO). 151 adults met inclusion criteria: 52 were successfully contacted and 32 completed the WHOQOL-BREF. Average age of respondents was 23.0±6.1 years old (range, 18.1 to 42.1). 12 subjects had metopic synostosis, 15 had unicoronal, and 5 had sagittal. NSC patients had a superior quality of life compared to comparative norms in all domains: physical health (17.8±2.7 vs. 15.5±3.2, p0.05), while all individual subtypes maintained superior or equivalent QOL relative to controls. Demographic variables, Whitaker score, and number of surgical interventions did not correlate with differences in QOL. Adult patients previously treated for NSC perceive their quality of life to be high, superior to that of a normative United States sample. Future work will seek to analyze additional patients and better understand the reasons behind these findings.

  3. Antenatal diagnosis of congenital deafness.

    Science.gov (United States)

    Isaacson, G

    1988-01-01

    Advances in the field of antenatal diagnosis have made possible the detection of profound sensorineural hearing loss prior to birth. Fetal motion in response to sound and auditory evoked potential testing can determine the presence of fetal hearing in the third trimester of pregnancy. Imaging modalities including ultrasound, computed tomography, and magnetic resonance imaging hold promise for the diagnosis of some forms of congenital deafness in the second trimester fetus. The methods by which congenital deafness soon may be diagnosed and the implications for the otologist are discussed.

  4. Reflections on Deaf Education: Perspectives of Deaf Senior Citizens

    Science.gov (United States)

    Roberson, Len; Shaw, Sherry

    2015-01-01

    Parents with deaf children face many challenges in making educational choices, developing language and a sense of belonging. Other key aspects of life including concept development and social competency are also critical decision points faced by parents. Developing language, whether it is through spoken or signed modalities, is of utmost…

  5. Outcomes of cochlear implantation in deaf children of deaf parents: comparative study.

    Science.gov (United States)

    Hassanzadeh, S

    2012-10-01

    This retrospective study compared the cochlear implantation outcomes of first- and second-generation deaf children. The study group consisted of seven deaf, cochlear-implanted children with deaf parents. An equal number of deaf children with normal-hearing parents were selected by matched sampling as a reference group. Participants were matched based on onset and severity of deafness, duration of deafness, age at cochlear implantation, duration of cochlear implantation, gender, and cochlear implant model. We used the Persian Auditory Perception Test for the Hearing Impaired, the Speech Intelligibility Rating scale, and the Sentence Imitation Test, in order to measure participants' speech perception, speech production and language development, respectively. Both groups of children showed auditory and speech development. However, the second-generation deaf children (i.e. deaf children of deaf parents) exceeded the cochlear implantation performance of the deaf children with hearing parents. This study confirms that second-generation deaf children exceed deaf children of hearing parents in terms of cochlear implantation performance. Encouraging deaf children to communicate in sign language from a very early age, before cochlear implantation, appears to improve their ability to learn spoken language after cochlear implantation.

  6. Word deafness in Wernicke's aphasia.

    OpenAIRE

    Kirshner, H S; Webb, W G; Duncan, G W

    1981-01-01

    Three patients with otherwise typical Wernicke's aphasia showed consistent superiority of visual over auditory comprehension. The precedents for and anatomical basis of a selective auditory deficit in Wernicke's aphasia are discussed, including the relationship to pure word deafness. One implication of spared visual language function may be the use of gesture in language therapy for such patients.

  7. Lentiginosis, Deafness and Cardiac Abnormalities*

    African Journals Online (AJOL)

    1973-01-06

    Jan 6, 1973 ... His height. mass. intelligence and genitalia were normal. The aSSOCiatIOn between deafness and disturbance of cardiac conduction and between pigmented skin lesions and cardiac abnormalities, has been well described. Should. ~I patient present with multiple lentigines and/or familial sensineural ...

  8. Deafness and Autistic Spectrum Disorders

    Science.gov (United States)

    Vernon, McCay; Rhodes, Anthony

    2009-01-01

    An orientation to autistic spectrum disorders (ASD), also known as autism, is provided, and the specific syndrome of autism and deafness is addressed. The two conditions have in common a major problem: communication. Case histories are provided, the development of treatment for autism is discussed, and the separate disorders that make up ASD are…

  9. The need for orthognathic surgery in nonsyndromic patients with repaired isolated cleft palate.

    Science.gov (United States)

    Antonarakis, Gregory S; Watts, Guy; Daskalogiannakis, John

    2015-01-01

    To determine the frequency of need for orthognathic surgery among nonsyndromic patients with isolated cleft palate repaired during infancy at The Hospital for Sick Children in Toronto, Canada. Retrospective cohort study. PATIENTS with nonsyndromic isolated cleft palate born between 1970 and 1997 with available records including a lateral cephalometric radiograph taken at ≥15 years of age. PATIENTS who had undergone or were being prepared for orthognathic surgery were automatically counted as requiring surgery. For the remaining patients, lateral cephalometric radiographs were traced and analyzed. Arbitrarily set cephalometric criteria were used to identify the "objective" need for orthognathic surgery. Of the 189 patients identified with nonsyndromic isolated cleft palate and for whom records were available, 25 (13.2%) were deemed to require orthognathic surgery. Of the surgical cohort, 92% required surgical correction for a Class III malocclusion. Similar percentages of males and females required orthognathic surgery. An apparently greater proportion of patients of Asian background (18.5%) than of white background (10.6%) required surgery, but this difference was not significant (P = .205). The current results suggest that approximately one in eight patients at our institution with nonsyndromic isolated cleft palate requires orthognathic surgery. There is a tendency for this to be higher in patients of Asian descent and lower in patients of white descent. Variability in extent, severity, and phenotype of the cleft, which may be attributed largely to genetics, may play an important role in dictating the need for orthognathic surgery.

  10. GJB2 and mitochondrial A1555G gene mutations in nonsyndromic ...

    Indian Academy of Sciences (India)

    GJB2 mutations in 21.4% of the families in this country. (Bayazit et al. 2003). In this study, GJB2 gene mutations were responsible for 14.7% of genetic nonsyndromic hear- ing losses and 12.5% of the familial cases. These results are lower than in the previous reports where the patient selec- tion criteria may play a role.

  11. Nonsyndromic Hearing Loss Caused by USH1G Mutations: Widening the USH1G Disease Spectrum

    NARCIS (Netherlands)

    Oonk, A.M.M.; Huet, R.A.C. van; Leijendeckers, J.M.; Oostrik, J.; Venselaar, H.; WIjk, E. van; Beynon, A.J.; Kunst, H.P.M.; Hoyng, C.B.; Kremer, H.; Schraders, M.; Pennings, R.J.E.

    2015-01-01

    OBJECTIVE: Currently, six genes are known to be associated with Usher syndrome type I, and mutations in most of these genes can also cause nonsyndromic hearing loss. The one exception is USH1G, which is currently only known to be involved in Usher syndrome type I and atypical Usher syndrome. DESIGN:

  12. Lower incidence of nonsyndromic cleft lip with or without cleft palate ...

    Indian Academy of Sciences (India)

    2016-08-26

    Aug 26, 2016 ... In India, as in other parts of the world, nonsyndromic cleft lip with or without cleft palate (NSCL±P) is a highly prevalent birth defect, its incidence in males being twice that in females. A case–control association study has been carried out with respect to homocysteine level and MTHFR C677T, A1298C and ...

  13. Association of MEOX2 polymorphism with nonsyndromic cleft palate only in a Vietnamese population.

    Science.gov (United States)

    Tran, Duy L; Imura, Hideto; Mori, Akihiro; Suzuki, Satoshi; Niimi, Teruyuki; Ono, Maya; Sakuma, Chisato; Nakahara, Shinichi; Nguyen, Tham T H; Pham, Phuong T; Hoang, Viet; Tran, Van T T; Nguyen, Minh D; Natsume, Nagato

    2017-10-14

    To evaluate the association between the single nucleotide polymorphism (SNP) rs227493 in the MEOX2 gene and nonsyndromic cleft palate only, this research was conducted as a case-control study by comparing a nonsyndromic cleft palate only group with an independent, healthy, and unaffected control group who were both examined by specialists. Based on clinical examination and medical records, we analyzed a total of 570 DNA samples, including 277 cases and 293 controls, which were extracted from dry blood spot samples collected from both the Odonto and Maxillofacial Hospital in Ho Chi Minh City and Nguyen Dinh Chieu Hospital in Ben Tre province, respectively. The standard procedures of genotyping the specific SNP (rs2237493) for MEOX2 were performed on a StepOne Realtime PCR system with TaqMan SNP Genotyping Assays. Significant statistical differences were observed in allelic frequencies (allele T and allele G) between the non-syndromic cleft palate only and control groups in female subjects, with an allelic odds ratio of 1.455 (95% confidence interval: 1.026-2.064) and P < 0.05. These study findings suggest that nonsyndromic isolated cleft palate might be influenced by variation of MEOX2, especially SNP rs2237493 in Vietnamese females. © 2017 Japanese Teratology Society.

  14. The Consequence Deafness has on the Psychological and ...

    African Journals Online (AJOL)

    The Consequence Deafness has on the Psychological and Academic Development of deaf students. The case of Alpha special school for the deaf in Addis Ababa, Hermata and Mendera Junior School at Jimma Town.

  15. Genetics Home Reference: sensorineural deafness and male infertility

    Science.gov (United States)

    ... deafness and male infertility Sensorineural deafness and male infertility Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description Sensorineural deafness and male infertility is a condition characterized by hearing loss and ...

  16. Nurses experiences with deaf patient and recommendations for an effective communication with deaf in medical facility

    OpenAIRE

    Boukalová, Naděžda

    2010-01-01

    This bachelor thesis whose name is Nurses experiences with deaf patient and recommendations for an effective communication with deaf in medical facility was conceived as pilot research. This thesis consists of two parts, theoretical and experimental. Theoretical part has several chapters, which deal with anatomy of ear, physiology of hearing, deaf in Czech Republic and communication. The last part of this chapter describes certain situations, where is possible to meet the deaf at medical faci...

  17. Suicide in deaf populations: a literature review.

    Science.gov (United States)

    Turner, Oliver; Windfuhr, Kirsten; Kapur, Navneet

    2007-10-08

    Studies have found that deaf individuals have higher rates of psychiatric disorder than those who are hearing, while at the same time encountering difficulties in accessing mental health services. These factors might increase the risk of suicide. However, the burden of suicidal behaviour in deaf people is currently unknown. The aim of the present review was to provide a summary of literature on suicidal behaviour with specific reference to deaf individuals. The objectives of the review were to establish the incidence and prevalence of suicidal behaviour in deaf populations; describe risk factors for suicidal behaviour in deaf populations; describe approaches to intervention and suicide prevention that have been used in deaf populations. A number of electronic databases (e.g. Medline, PsycINFO, CINAHL, EMBASE, Dissertation Abstracts International, Web of Science, ComDisDome, ASSIA, Education Sage Full Text, Google Scholar, and the grey literature databases FADE and SIGLE) were explored using a combination of key words and medical subject headings as search terms. Reference lists of papers were also searched. The Science and Social Sciences Citation Index electronic databases were used to identify studies that had cited key papers. We also contacted experts and organisations with an interest in the field. Very few studies focussed specifically on suicide in deaf populations. Those studies that were included (n = 13) generally involved small and unrepresentative samples. There were limited data on the rate of suicidal behaviour in deaf people. One study reported evidence of hearing impairment in 0.2% of all suicide deaths. Another found that individuals with tinnitus seen in specialist clinics had an elevated rate of suicide compared to the general population. The rates of attempted suicide in deaf school and college students during the previous year ranged from 1.7% to 18%, with lifetime rates as high as 30%. Little evidence was found to suggest that risk factors for

  18. The Impact of Maternal Deafness on Cradling Laterality with Deaf and Hearing Infants

    Science.gov (United States)

    Sieratzki, Jechil S.; Woll, Bencie

    2004-01-01

    A recent article in the "Journal of Deaf Studies and Deaf Education" (Leigh, Brice, & Meadow-Orlans, 2004) explored attachment between deaf mothers and their 18-month-old children and reported relationship patterns similar to those for hearing dyads. The study reported here explores a marker of early mother-child relationships: cradling…

  19. Debating Futures in Flemish Deaf Parliament: Deaf Epistemologies, Participatory Citizenship, and Sustainable Development

    Science.gov (United States)

    De Clerck, Goedele A.M.

    2017-01-01

    More than 350 deaf/sign language community members gathered at six local deaf clubs in Flanders in 2014 to share perspectives about the future and formulate proposals for policymaking. This initiative, Flemish Deaf Parliament, serves as a platform of deliberative democracy developed through cooperation between Ghent University and the Flemish…

  20. The Church of Deaf Sociality: Deaf Churchgoing Practices and "Sign Bread and Butter" in Bangalore, India

    Science.gov (United States)

    Friedner, Michele

    2014-01-01

    This article ethnographically analyzes the practices of deaf young adults in Bangalore, India. As sign language is not used by families, schools, or other institutions, the church is a crucial educational space. Churchgoing provides deaf young adults with opportunities to orient themselves toward other deaf young adults, to develop new ideas of…

  1. A Phenomenological Study of Online Learning for Deaf Students in Postsecondary Education: A Deaf Perspective

    Science.gov (United States)

    Wooten, Patricia Michelle

    2014-01-01

    This qualitative phenomenological study investigated the effects of online learning for deaf college students as opposed to the mainstream classroom setting. This study specifically analyzed the writing and reading skills of deaf students in general and the development of English literacy of prelingually deaf students and those from non-English…

  2. Accessibility and diversity: Deaf space in action

    OpenAIRE

    Solvang, Per Koren; Haualand, Hilde

    2013-01-01

    How disabled people gather and share common experiences is empirically not a well-addressed issue in discussions about disability identity and unity. Among Deaf people, there is a long tradition for meeting in transnational contexts. Based on an intensive multi sited fieldwork at several transnational events, the article presents some examples of how deaf people negotiate social positions as Deaf that value difference. They gather as a community of communicators, marked by an identification f...

  3. Deaf Culture in Republic of Korea

    OpenAIRE

    Šlamborová, Zdeňka

    2017-01-01

    The aim is to focus on development of Deaf culture in the Republic of Korea. The thesis focuses not only on hearing impairment and the distribution of hearing loss categories from a medical point of view, but also the Deaf community and the importance of their own identities, which played a major role in the Deaf culture. It will also point to changes in Korean majority society's view on the Deaf community, and what caused Korean society's view to change. The part of this thesis is also focus...

  4. Deaf mobile application accessibility requirements

    Science.gov (United States)

    Nathan, Shelena Soosay; Hussain, Azham; Hashim, Nor Laily

    2016-08-01

    Requirement for deaf mobile applications need to be analysed to ensure the disabilities need are instilled into the mobile applications developed for them. Universal design is understandable to comply every user needs, however specific disability is argued by the authors to have different need and requirements. These differences are among the reasons for these applications being developed to target for a specific group of people, however they are less usable and later abandoned. This study focuses on deriving requirements that are needed by the deaf in their mobile applications that are meant specifically for them. Studies on previous literature was conducted it can be concluded that graphic, text, multimedia and sign language interpreter are among mostly required features to be included in their mobile application to ensure the applications are usable for this community.

  5. PERSONAL IDENTITY IN DEAF ADOLESCENTS

    Directory of Open Access Journals (Sweden)

    Joanna KOSSEWSKA

    2008-06-01

    Full Text Available The purpose of this study was to investigate the factors influencing the identity deaf adolescents. The study involved 67 deaf adolescents (38 boys and 29 girls aged 16 to 19 students of secondary school. Ninety-three hearing children constituted a comparison group. The structure of identity was explored on the basis of identification references given by the subjects who were to reply in writing, 20 times running, to the question: „Who Am I?” the test, adapted from M. H. Kuhn and T. S. McPartland by Martines and Silvestre (1995 given in written and signed mode.Results showed that the hearing status as well as mode of communication influence the description of personal identity. It was found that deaf adoles­cents used more descriptions especially in the fol­lowing categories: Civil Status, Body and Physical Appearance, Tastes and Activities, Friendship and Relationships, Personal and Social Situation, Negative Personal Traits, and Neutral Personality Traits. Although this study could demonstrate im­pact independent variables on identity, the data raise the need for further, preferably longitudinal, research. This complex phenomenon has to be examined more closely.Combined self-descriptive processes lead to the development of an organized, learned and dynamic identity, and subjective description of an individ­ual has strong emotional consequences for the in­dividual in question.

  6. Metaphor Comprehension by Deaf Young Adults

    Science.gov (United States)

    Gold, Rinat; Segal, Osnat

    2017-01-01

    In the present study, we compared the processing of both conventional and novel metaphors by deaf versus hearing young adults. Eighteen deaf participants with severe-to-profound hearing loss and 18 controls matched for age, sex, and years of education were presented with word pairs of 4 types (literal, conventional metaphors, novel metaphors, and…

  7. Social Information Processing in Deaf Adolescents

    Science.gov (United States)

    Torres, Jesús; Saldaña, David; Rodríguez-Ortiz, Isabel R.

    2016-01-01

    The goal of this study was to compare the processing of social information in deaf and hearing adolescents. A task was developed to assess social information processing (SIP) skills of deaf adolescents based on Crick and Dodge's (1994; A review and reformulation of social information-processing mechanisms in children's social adjustment.…

  8. Ophthalmologic abnormalities among deaf students in Kaduna ...

    African Journals Online (AJOL)

    ... syndrome (0.6%) and Ushers syndrome (0.6%). Refractive error was the most common (7.9%). Conclusion: Since these deaf students use their sight to compensate for the deafness, routine ophthalmologic examination should be carried out on them so that ophthalmologic abnormalities are detected early and treatment ...

  9. Communities of Practice: Literacy and Deaf Children

    Science.gov (United States)

    Kristoffersen, Ann-Elise; Simonsen, Eva

    2016-01-01

    This article aims to discuss young deaf children's access to literacy within a sociocultural perspective. We introduce the concept of communities of practice as an aspect in early literacy development for young deaf children. Preschools are learning communities and thus constitute communities of practice. Our discussion on the use of communities…

  10. Translanguaging, Learning and Teaching in Deaf Education

    Science.gov (United States)

    Swanwick, Ruth

    2017-01-01

    This paper critiques the role of translanguaging in deaf education by examining how, and under what conditions, translanguaging practices can enhance learning and teaching. The paper explores the premise that translanguaging represents an additive view of bilingualism and multilingualism for deaf learners and offers an innovative departure from,…

  11. BIBLIOGRAPHY ON DEAFNESS, A SELECTED INDEX.

    Science.gov (United States)

    FELLENDORF, GEORGE W.; AND OTHERS

    APPROXIMATELY 3,200 REFERENCES ARE LISTED BY AUTHOR AND GROUPED ACCORDING TO SUBJECT. ALL REFERENCES ARE ARTICLES FROM "THE VOLTA REVIEW," 1899 TO 1965, OR "THE AMERICAN ANNALS OF THE DEAF," 1847 TO 1965. AN AUTHOR INDEX IS INCLUDED. THIS DOCUMENT WAS PUBLISHED BY THE ALEXANDER GRAHAM BELL ASSOCIATION FOR THE DEAF, INC., THE…

  12. Deaf-Blind Perspectives, 2000-2001.

    Science.gov (United States)

    Malloy, Peggy, Ed.

    2001-01-01

    These three issues of "Deaf-Blind Perspectives" feature the following articles: (1) "A Group for Students with Usher Syndrome in South Louisiana" (Faye Melancon); (2) "Simply Emily," which discusses a budding friendship between a girl with deaf-blindness and a peer; (3) "Intervener Update" (Peggy Malloy and…

  13. Nonsyndromic cleft lip and palate: No evidence of linkage to HLA or factor 13A

    Energy Technology Data Exchange (ETDEWEB)

    Hecht, J.T.; Yaping Wang; Connor, B.; Daiger, S.P. (Univ. of Texas, Houston (United States)); Blanton, S.H. (Univ. of Texas, Houston (United States) Univ. of Virginia, Charlottesville (United States))

    1993-06-01

    Nonsyndromic cleft lip with or without cleft palate (CLP) is a common craniofacial anomaly, the etiology of which is not known. Population studies have shown that a large proportion of cases occur sporadically. Recently, segregation analyses applied to CLP families have demonstrated that an autosomal dominant/codominant gene(s) may cause clefting in cases. Associations of autosomal dominant CLP and nonsyndromic cleft palate (CP) with HLA and F13A genes on chromosome 6p have been suggested previously. Linkage to these two areas on chromosome 6p were tested in 12 autosomal dominant families with CLP. With a LOD score of [minus]2 or less for exclusion, no evidence of linkage was found to four chromosome 6p markers. Multipoint analysis showed no evidence of a clefting locus in this region spanning 54 cM on chromosome 6p in these CLP families. 30 refs., 2 figs., 1 tab.

  14. Signposts to Development: Theory of Mind in Deaf Children.

    Science.gov (United States)

    Woolfe, Tyron; Want, Stephen C.; Siegal, Michael

    2002-01-01

    Two studies investigated the effect of language input on theory of mind by comparing the performance of deaf native-signing children (ages 4 to 8) raised by deaf signing parents and deaf late-signing children raised by hearing parents on "thought picture" measures of theory of mind. Findings indicated that deaf late signers showed…

  15. Violence against Deaf Women: Effect of Partner Hearing Status

    Science.gov (United States)

    Anderson, Melissa L.; Kobek Pezzarossi, Caroline M.

    2014-01-01

    Using a sample of Deaf female undergraduate students, the current study sought to investigate the prevalence, correlates, and characteristics of intimate partner violence victimization in hearing-Deaf and Deaf-Deaf relationships. Initial results suggest that similarities in hearing status and communication preference are associated with increased…

  16. Emotional Availability and Touch in Deaf and Hearing Dyads

    Science.gov (United States)

    Paradis, Grace; Koester, Lynne Sanford

    2015-01-01

    In recent years, increasing attention has been given to the development of deaf children, though few studies have included Deaf parents. The present study examined emotional availability (EA) and functions of touch used by Deaf or hearing parents with hearing or deaf infants during free play. Sixty dyads representing four hearing status groups…

  17. Association of single nucleotide polymorphisms in WNT genes with the risk of nonsyndromic cleft lip with or without cleft palate.

    Science.gov (United States)

    Rafighdoost, Houshang; Hashemi, Mohammad; Asadi, Hossein; Bahari, Gholamreza

    2018-01-22

    Nonsyndromic cleft lip with or without cleft palate is a common congenital deformity worldwide with multifaceted etiology. Interaction of genes and environmental factors has been indicated to be related with susceptibility to nonsyndromic cleft lip with or without cleft palate. Some WNT genes which are involved in craniofacial embryogenesis may play a key role in the pathogenesis of nonsyndromic cleft lip with or without cleft palate. In the present study, we aimed to inspect the relationship between WNT3 (rs3809857 and rs9890413), WNT3A (rs752107 and rs3121310), and WNT10a rs201002930 (c.392 C>T) polymorphisms and nonsyndromic cleft lip with or without cleft palate in an Iranian population. The present case-control study was carried out on 120 unrelated nonsyndromic cleft lip with or without cleft palate patients and 112 healthy subjects. The variants were genotyped by polymerase chain reaction-restriction fragment length polymorphism method. The findings suggest that the rs3809857 polymorphism significantly decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.16, 95% confidence interval = 0.03-0.75, P = 0.020, TT vs GG), recessive (odds ratio = 0.16, 95% confidence interval = 0.03-0.72, P = 0.009, TT vs GG + GT) inheritance models. The rs9890413 variant marginally decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.41, 95% confidence interval = 0.17-0.99, P = 0.047, AG vs AA) model. Regarding C392T variant, the findings revealed that this variant significantly decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.24, 95% confidence interval = 0.10-0.58, P = 0.002, CT vs CC) and allele (odds ratio = 0.26, 95% confidence interval = 0.11-0.62, P = 0.002, T vs C) models. No significant association was observed between the rs752107 and rs3121310 variants

  18. Phenotypic discordance in a family with monozygotic twins and non-syndromic cleft lip and palate

    Energy Technology Data Exchange (ETDEWEB)

    Wyszynski, D.F. [Johns Hopkins Univ., Baltimore, MD (United States)]|[National Center for Human Genome Research, Bethesda, MD (United States); Lewanda, A.F. [Johnson Hopkins Hospital, Baltimore, MD (United States)]|[Children`s National Medical Center, Washington, DC (United States); Beaty, T.H. [Johns Hopkins Univ., Balitomre, MD (United States)

    1996-12-30

    Despite considerable research, the cause of non-syndromic cleft lip with or without cleft palate (NSCLP) is still an enigma. Case-control and cohort studies have searched for environmental factors that might influence the development of this common malformation, such as maternal cigarette smoking, periconceptional supplementation of folic acid and multivitamins, agricultural chemical use, and place of residence, among others. However, these studies are subject to numerous biases, and their results have often been contradictory and inconclusive. 41 refs., 1 fig.

  19. Beethoven's deafness, the defiance of a genius

    Directory of Open Access Journals (Sweden)

    Bento, Ricardo Ferreira

    2009-09-01

    Full Text Available Introduction: Ludwig van Beethoven, one of the greatest composers in History, was tormented for his whole life by a progressive deafness without definitive diagnosis. Many authors published studies about the etiologic possibilities of the deafness of the music genius with different explanations about his auditory loss. In this work, the author discusses the implications of Beethoven's progressive deafness to the creation of his word, as well as etiologic assumptions of his disease. Would Beethoven have had the same ingeniousness he showed in his symphonies if he did not have hypacusis and tinnitus? What is the influence of his deafness on his work and life? Could he have had a more precise diagnosis and specially a treatment nowadays? Would we have the brilliant composer if he had deafness today? We surely could not have!

  20. Environmental assessment: Deaf Smith County site, Texas

    International Nuclear Information System (INIS)

    1986-05-01

    In February 1983, the US Department of Energy (DOE) identified a location in Deaf Smith County, Texas, as one of nine potentially acceptable sites for a mined geologic repository for spent nuclear fuel and high-level radioactive waste. To determine their suitability, the Deaf Smith County site and the eight other potentially sites have been evaluated in accordance with the DOE's General Guidelines for the Recommendation of Sites for the Nuclear Waste Repositories. The Deaf Smith County site is in the Permian Basin, which is one of five distinct geohydrologic settings considered for the first repository. On the basis of the evaluations reported in this EA, the DOE has found that the Deaf Smith County site is not disqualified under the guidelines. On the basis of these findings, the DOE is nominating the Deaf Smith County site as one of the five sites suitable for characterization. 591 refs., 147 figs., 173 tabs

  1. Environmental assessment: Deaf Smith County site, Texas

    Energy Technology Data Exchange (ETDEWEB)

    1986-05-01

    In February 1983, the US Department of Energy (DOE) identified a location in Deaf Smith County, Texas, as one of nine potentially acceptable sites for a mined geologic repository for spent nuclear fuel and high-level radioactive waste. To determine their suitability, the Deaf Smith County site and the eight other potentially sites have been evaluated in accordance with the DOE's General Guidelines for the Recommendation of Sites for the Nuclear Waste Repositories. The Deaf Smith County site is in the Permian Basin, which is one of five distinct geohydrologic settings considered for the first repository. On the basis of the evaluations reported in this EA, the DOE has found that the Deaf Smith County site is not disqualified under the guidelines. On the basis of these findings, the DOE is nominating the Deaf Smith County site as one of the five sites suitable for characterization. 591 refs., 147 figs., 173 tabs.

  2. Modeling the autistic cell: iPSCs recapitulate developmental principles of syndromic and nonsyndromic ASD.

    Science.gov (United States)

    Ben-Reuven, Lihi; Reiner, Orly

    2016-06-01

    The opportunity to model autism spectrum disorders (ASD) through generation of patient-derived induced pluripotent stem cells (iPSCs) is currently an emerging topic. Wide-scale research of altered brain circuits in syndromic ASD, including Rett Syndrome, Fragile X Syndrome, Angelman's Syndrome and sporadic Schizophrenia, was made possible through animal models. However, possibly due to species differences, and to the possible contribution of epigenetics in the pathophysiology of these diseases, animal models fail to recapitulate many aspects of ASD. With the advent of iPSCs technology, 3D cultures of patient-derived cells are being used to study complex neuronal phenotypes, including both syndromic and nonsyndromic ASD. Here, we review recent advances in using iPSCs to study various aspects of the ASD neuropathology, with emphasis on the efforts to create in vitro model systems for syndromic and nonsyndromic ASD. We summarize the main cellular activity phenotypes and aberrant genetic interaction networks that were found in iPSC-derived neurons of syndromic and nonsyndromic autistic patients. © 2016 Japanese Society of Developmental Biologists.

  3. BILINGUALISM: MULTICULTURALISM HOLOPRAXIOLOGY OF THE VENEZUELAN DEAF

    Directory of Open Access Journals (Sweden)

    Héctor Florencio Martínez Pérez

    2014-04-01

    Full Text Available The formation of the child has been made regularly and without many prejudices or tbacks,  until this had some physical characteristic or perceptual, who twisted his attention.  To those who were born with the inability to listen or hear properly, excluded in all respects. At the end of the 20th century, the deaf began to defend their identity and differed between Deafness (lack of hearing of deafness, with "S", which is a socio-anthropological perspective, which includes the use of sign language and the learning of reading and writing of the Spanish (bilingualism in their training. This research had as general objective to unveil bilingualism from an intercultural intersubjectivity of the deaf in Venezuela by applying a qualitative related paradigm with methodology fenomenologica-hermeneutica of Max Van Manen. The information collected observing and interviewing in depth (12 deaf students, parents or representatives (6, (3 researchers and educational specialists deaf and listeners (12. To analyze and triangulate information, obtained the following conclusions about the bilingual deaf: their physical and intellectual abilities are exactly the same to the listeners;  they can achieve the necessary qualification for any job; is required the language of signs so that you can put into practice the language; those who have the organizational capacity to develop oral language, it should not hinder him this opportunity, without detriment to the learning of the language of signs and the systematic training of the deaf teachers and deaf family, educational managers, political and employer of the deaf is essentially required.

  4. Deaf English--An Investigation of the Written English Competence of Deaf Adolescents. Technical Report No. 236.

    Science.gov (United States)

    Charrow, Veda R.

    Presented is support for the existence of "Deaf English," a non-standard dialect common to the prelingually deaf; and reported is an investigation of the written English competence of deaf adolescents. In the first half of the document the author discusses the historical background of deaf education and the linguistic and cognitive abilities of…

  5. RELATION OF DEAF PERSONS TOWARDS BILINGUALISM AS COMMUNICATION MODE

    OpenAIRE

    Naim Salkić

    2013-01-01

    Bilingualism of a deaf child implies concurrent cognition and usage of sign language, as community language and oral-voice language as language of greater community in which deaf persons live. Today, most authors consider that deaf persons should know both of these languages and that deaf persons need to be educated in both languages, because of their general communication and complete psycho-social development. Through research on sample of 80 deaf examinees, we affirmed the kind...

  6. Computational solution for the auxiliary in the literacy of deaf

    Directory of Open Access Journals (Sweden)

    João Carlos Lopes Fernandes

    2016-11-01

    Full Text Available The learning of the deaf is a great challenge for educators, especially in Portuguese-speaking course. Brazilian schools are not prepared for suits with deaf, because they lack trained professionals. Current Brazilian educational policies, seeking socialize all deaf and not deaf students. The Brazilian deaf community uses LIBRAS, Brazilian sign language as their main form of communication between them. Integrating LBS and Portuguese is one of the main current challenges and the use of computers has helped a lot.

  7. On the possibilities and limits of "DEAF DEAF SAME": Tourism and empowerment camps in Adamorobe (Ghana, Bangalore and Mumbai (India.

    Directory of Open Access Journals (Sweden)

    Michele Ilana Friedner

    2014-06-01

    Full Text Available This article qualitatively analyzes the ways that the discourse of "deaf universalism" circulates within two common deaf practices: tourism and engaging in interventions. Arguing that the largely Northern-situated discipline of Deaf Studies does not adequately examine how deaf bodies and discourses travel, ethnographic data compiled in India and Ghana during transnational encounters is employed to examine how claims of "sameness" and "difference" are enacted and negotiated. Similarly, this article examines how deaf individuals and groups deploy the concepts of deaf "heavens" and "hells" to analyze their travel experiences and justify interventions. We argue that deaf travelers and those engaging in interventions, mostly from Northern countries, employ teleological concepts that they attempt to impose on deaf "others." Adopting a critical approach, this article argues for the importance of carving out a space within Deaf Studies for allowing non-Northern concepts to come to the fore. Keywords: Deaf, Development, Universalism, Discourse, India, Ghana

  8. Inner ear morphology is perturbed in two novel mouse models of recessive deafness.

    Directory of Open Access Journals (Sweden)

    Kerry A Miller

    Full Text Available Human MYO7A mutations can cause a variety of conditions involving the inner ear. These include dominant and recessive non-syndromic hearing loss and syndromic conditions such as Usher syndrome. Mouse models of deafness allow us to investigate functional pathways involved in normal and abnormal hearing processes. We present two novel mouse models with mutations in the Myo7a gene with distinct phenotypes. The mutation in Myo7a(I487N/I487N ewaso is located within the head motor domain of Myo7a. Mice exhibit a profound hearing loss and manifest behaviour associated with a vestibular defect. A mutation located in the linker region between the coiled-coil and the first MyTH4 domains of the protein is responsible in Myo7a(F947I/F947I dumbo. These mice show a less severe hearing loss than in Myo7a(I487N/I487N ewaso; their hearing loss threshold is elevated at 4 weeks old, and progressively worsens with age. These mice show no obvious signs of vestibular dysfunction, although scanning electron microscopy reveals a mild phenotype in vestibular stereocilia bundles. The Myo7a(F947I/F947I dumbo strain is therefore the first reported Myo7a mouse model without an overt vestibular phenotype; a possible model for human DFNB2 deafness. Understanding the molecular basis of these newly identified mutations will provide knowledge into the complex genetic pathways involved in the maintenance of hearing, and will provide insight into recessively inherited sensorineural hearing loss in humans.

  9. Literatura Surda/Deaf Literature

    Directory of Open Access Journals (Sweden)

    Lodenir Becker Karnopp

    2006-01-01

    Full Text Available O objetivo do presente artigo é proceder a uma análise dos livros de literatura infantil Cinderela Surda e Rapunzel Surda, focalizando os sentidos produzidos sobre identidades e diferenças. As análises desses livros pretendem contribuir para a discussão da produção de uma literatura surda, que está vinculada às discussões sobre cultura e identidade. Na investigação desses materiais, os textos e as imagens produzidas evidenciam que os autores buscam o caminho da auto-representação do grupo de surdos, através da luta pelo estabelecimento do que reconhecem como suas identidades e suas diferenças. Tais evidências estão no uso da língua de sinais, em suas formas de narrar as histórias e/ou de adaptar histórias clássicas, tendo como base suas formas de existência, suas formas de ler, traduzir, conceber e julgar os produtos culturais que consomem e que produzem. This article aims to present an analysis of the fairy tales, Deaf Cinderella and Deaf Rapunzel, focusing on the meanings produced from identities and differences. The analyses of these two books intend to give a contribution to the discussion on the production of deaf literature, which is linked to the discussions on culture and identity. In the investigation of these books, the texts and the images produced show that the authors seek the path to self- representation of the deaf community, through the struggle for the establishment of what they recognize as their identities and differences. Such evidences are in the use of sign language, in their ways of narrating their stories and/or of adapting classic fairy tales, having as a basis their existential ways of being, their ways of reading, translating, conceiving and judging the cultural products which they consume and produce.

  10. Making public mental-health services accessible to deaf consumers: Illinois Deaf Services 2000.

    Science.gov (United States)

    Munro-Ludders, Bruce; Simpatico, Thomas; Zvetina, Daria

    2004-01-01

    Illinois Deaf Services 2000 (IDS2000), a public/private partnership, promotes the creation and implementation of strategies to develop and increase access to mental health services for deaf, hard of hearing, late-deafened, and deaf-blind consumers. IDS2000 has resulted in the establishment of service accessibility standards, a technical support and adherence monitoring system, and the beginnings of a statewide telepsychiatry service. These system modifications have resulted in increase by 60% from baseline survey data in the number of deaf, hard of hearing, late-deafened, and deaf-blind consumers identified in community mental-health agencies in Illinois. Depending on the situation of deaf services staff and infrastructure, much of IDS2000 could be replicated in other states in a mostly budget-neutral manner.

  11. Music and Deaf Culture: Images from the Media and Their Interpretation by Deaf and Hearing Students.

    Science.gov (United States)

    Darrow; Loomis

    1999-01-01

    The purpose of the study was threefold: (a) to examine how the visual media have portrayed the subject of music and the deaf, (b) to verify the validity of these portrayals with members of the deaf community, and (c) to compare and contrast deaf and hearing audiences' impressions of these portrayals. An additional purpose of the research was to examine the results in light of possible misconceptions that may be construed by music therapists and music educators based upon the media's representation of the relationship between music and deaf culture. Since music therapists and music educators are the primary persons responsible for the music instruction of students in school programs for deaf and hard-of-hearing students, it is particularly important that they receive accurate messages about the relationship of music to deaf culture. Fifty deaf (n = 25) and hearing (n = 25) undergraduate college students individually viewed motion picture and television excerpts related to music and the deaf. Subjects were instructed to take notes as needed regarding the content of each excerpt and their impressions. Students were then interviewed in their native language, English or American Sign Language, as to their interpretations and perceptions regarding these excerpts and their accuracy. Interviews of the deaf students were translated into English from American Sign Language by trained interpreters. Written transcriptions were then made of the interpreters' English translations of the interviews with deaf students and of the verbal interviews with hearing students. Interview transcripts from both groups were coded and analyzed for recurring themes and patterns using content analysis. Data analysis revealed cultural patterns for the two groups, impressions specific to individual subjects, and trends in communication style and content for the two groups. Implications for music therapists and music educators are given regarding the influence of the media, characteristics of deaf

  12. Stigma in Mothers of Deaf Children

    Directory of Open Access Journals (Sweden)

    Hossein Ebrahimi

    2015-03-01

     Results: Results showed that most mothers suffer from stigma due to having a deaf child. The mean stigma score was 96.48 ±27.72. In total, 24.4% of mothers reported that they had received strange and mocking looks; 72.2% regarded child deafness as a sign of divine retribution; and 33.3% felt ashamed of their child’s deafness. There was an inverse relationship between the mother’s level of education and mean stigma scores (P

  13. Suicide in deaf populations: a literature review

    Directory of Open Access Journals (Sweden)

    Kapur Navneet

    2007-10-01

    Full Text Available Abstract Background Studies have found that deaf individuals have higher rates of psychiatric disorder than those who are hearing, while at the same time encountering difficulties in accessing mental health services. These factors might increase the risk of suicide. However, the burden of suicidal behaviour in deaf people is currently unknown. The aim of the present review was to provide a summary of literature on suicidal behaviour with specific reference to deaf individuals. The objectives of the review were to establish the incidence and prevalence of suicidal behaviour in deaf populations; describe risk factors for suicidal behaviour in deaf populations; describe approaches to intervention and suicide prevention that have been used in deaf populations. Methods A number of electronic databases (e.g. Medline, PsycINFO, CINAHL, EMBASE, Dissertation Abstracts International, Web of Science, ComDisDome, ASSIA, Education Sage Full Text, Google Scholar, and the grey literature databases FADE and SIGLE were explored using a combination of key words and medical subject headings as search terms. Reference lists of papers were also searched. The Science and Social Sciences Citation Index electronic databases were used to identify studies that had cited key papers. We also contacted experts and organisations with an interest in the field. Results Very few studies focussed specifically on suicide in deaf populations. Those studies that were included (n = 13 generally involved small and unrepresentative samples. There were limited data on the rate of suicidal behaviour in deaf people. One study reported evidence of hearing impairment in 0.2% of all suicide deaths. Another found that individuals with tinnitus seen in specialist clinics had an elevated rate of suicide compared to the general population. The rates of attempted suicide in deaf school and college students during the previous year ranged from 1.7% to 18%, with lifetime rates as high as 30

  14. A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Liu, Huan; Carlson, Jenna C

    2016-01-01

    Cleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately half of infants with CP have a syndromic form, exhibiting other physical and cognitive disabilities. The other half have nonsyndromic CP, and to date, few genes associated with risk for nonsyndromic CP h...

  15. Silencing Deafness: Displacing Disability in the Nineteenth Century

    Directory of Open Access Journals (Sweden)

    Esme Cleall

    2015-03-01

    Full Text Available This article traces the way in which the language of displacement and silence were used in nineteenth-century discussions of deafness and connects this tendency to the marginalised place deaf experience occupies historically. Throughout the nineteenth century, a period which saw the consolidation of ‘the deaf and dumb’ as a social category, the word ‘forgetting’ crept into numerous discussions of deafness by both deaf and hearing commentators. Some, such as the educationalist Alexander Graeme Bell, were overt in their desire to forget deafness, demanding disability was ‘bred out’ and deaf culture condemned to the forgotten past. Others used the term ambivalently and sometimes metaphorically discussing the deaf as ‘forgotten’ by society, and ‘children of silence’. Some even pleaded that people who were deaf were not forgotten. But, though varied, the use of the imagery of forgetting and silence to evoke deafness is recurrent, and may, therefore, be seen to reveal something about how deaf experience can be approached as a displacement where deafness was spatially and imaginatively marginalised. I argue that one of the consequences of the conceptual framing of deafness through the language of forgetting was actively to silence deafness and to neutralise the idea that disability should be marginal and could be forgotten.

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

    International Nuclear Information System (INIS)

    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

    2007-01-01

    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 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 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

  17. Black Deaf Individuals' Reading Skills: Influence of ASL, Culture, Family Characteristics, Reading Experience, and Education

    Science.gov (United States)

    Myers, Candace; Clark, M. Diane; Musyoka, Millicent M.; Anderson, Melissa L.; Gilbert, Gizelle L.; Agyen, Selina; Hauser, Peter C.

    2010-01-01

    Previous research on the reading abilities of Deaf individuals from various cultural groups suggests that Black Deaf and Hispanic Deaf individuals lag behind their White Deaf peers. The present study compared the reading skills of Black Deaf and White Deaf individuals, investigating the influence of American Sign Language (ASL), culture, family…

  18. When Being Deaf Is Centered: d/Deaf Women of Color's Experiences with Racial/Ethnic and d/Deaf Identities in College

    Science.gov (United States)

    Stapleton, Lissa

    2015-01-01

    Approximately 30% of d/Deaf students are successfully completing college; the reasons for such a low graduation rate is unknown (Destler & Buckly, 2011). Most research on d/Deaf college students lack racial/ethnic diversity within the study; thus, it is unclear how d/Deaf Students of Color are faring in higher education or what experiences…

  19. Steroid Treatments Equally Effective Against Sudden Deafness

    Science.gov (United States)

    ... NIGMS NIMH NIMHD NINDS NINR NLM CC CIT CSR FIC NCATS NCCIH OD About NIH Who We ... with sudden deafness should discuss the risks and benefits of both treatments with their doctor.” Related Links ...

  20. [Congenital sensorineural deafness and associated syndromes].

    Science.gov (United States)

    Moatti, L; Garabedian, E N; Lacombe, H; Spir-Jacob, C

    1990-01-01

    The etiology of perceptive deafness, especially the congenital variety, requires investigation. The presence of a variety of signs associated with deafness constitutes an "associated syndrome" and helps to define a possible genetic origin. These syndromes only represent a small percentage of overall causes of deafness in children, since at most they account for only 10% of cases. Certain syndromes are encountered more often or are well known, others are extremely rare or have only been described recently. The authors report six of these very rare syndromes discovered among their patients: a KID syndrome, a Leopard syndrome, a Norrie syndrome, a Jervell and Lange Nielsen syndrome, a recently described entity called CEE with deafness and an External Neuro-Cochleo-Pancreatic syndrome which would not appear to have been previously described.

  1. The Status of Interpreters for Deaf Canadians.

    Science.gov (United States)

    Schein, Jerome D.; Yarwood, Sara

    1990-01-01

    A national survey of 170 interpreters for deaf Canadians examined demographic characteristics; knowledge of sign; education; experience; employment; voluntary service; clients served; settings; earnings and fees; and opinions regarding their work, compensation, working conditions, ethics, and education. (JDD)

  2. Acoustics outreach program for the deaf

    Science.gov (United States)

    Vongsawad, Cameron T.; Berardi, Mark L.; Whiting, Jennifer K.; Lawler, M. Jeannette; Gee, Kent L.; Neilsen, Tracianne B.

    2016-03-01

    The Hear and See methodology has often been used as a means of enhancing pedagogy by focusing on the two strongest learning senses, but this naturally does not apply to deaf or hard of hearing students. Because deaf students' prior nonaural experiences with sound will vary significantly from those of students with typical hearing, different methods must be used to build understanding. However, the sensory-focused pedagogical principle can be applied in a different way for the Deaf by utilizing the senses of touch and sight, called here the ``See and Feel'' method. This presentation will provide several examples of how acoustics demonstrations have been adapted to create an outreach program for a group of junior high students from a school for the Deaf and discuss challenges encountered.

  3. Environmental assessment, Deaf Smith County site, Texas

    Energy Technology Data Exchange (ETDEWEB)

    1986-05-01

    The Nuclear Waste Policy Act of 1982 (42 USC sections 10101-10226) requires the environmental assessment of a proposed site to include a statement of the basis for nominating a site as suitable for characterization. Volume 2 provides a detailed statement evaluating the site suitability of the Deaf Smith County Site under DOE siting guidelines, as well as a comparison of the Deaf Smith County Site to the other sites under consideration. The evaluation of the Deaf Smith County Site is based on the impacts associated with the reference repository design, but the evaluation will not change if based on the Mission Plan repository concept. The second part of this document compares the Deaf Smith County Site to Davis Canyon, Hanford, Richton Dome and Yucca Mountain. This comparison is required under DOE guidelines and is not intended to directly support subsequent recommendation of three sites for characterization as candidate sites. 259 refs., 29 figs., 66 refs. (MHB)

  4. Environmental assessment: Deaf Smith County site, Texas

    Energy Technology Data Exchange (ETDEWEB)

    1986-05-01

    In February 1983, the US Department of Energy (DOE) identified a location in Deaf Smith County, Texas, as one of the nine potentially acceptable sites for mined geologic repository for spent nuclear fuel and high-level radioactive waste. To determine their suitability, the Deaf Smith County site and eight other potentially acceptable sites have been evaluated in accordance with the DOE's General Guidelines for the Recommendation of Sites for the Nuclear Waste Repositories. The Deaf Smith County site is in the Permian Basin, which is one of five distinct geohydrologic settings considered for the first repository. On the basis of the evaluations reported in this EA, the DOE has found that the Deaf Smith County site is not disqualified under the guidelines.

  5. Environmental assessment: Deaf Smith County site, Texas

    International Nuclear Information System (INIS)

    1986-05-01

    In February 1983, the US Department of Energy (DOE) identified a location in Deaf Smith County, Texas, as one of the nine potentially acceptable sites for mined geologic repository for spent nuclear fuel and high-level radioactive waste. To determine their suitability, the Deaf Smith County site and eight other potentially acceptable sites have been evaluated in accordance with the DOE's General Guidelines for the Recommendation of Sites for the Nuclear Waste Repositories. The Deaf Smith County site is in the Permian Basin, which is one of five distinct geohydrologic settings considered for the first repository. On the basis of the evaluations reported in this EA, the DOE has found that the Deaf Smith County site is not disqualified under the guidelines

  6. Environmental assessment, Deaf Smith County site, Texas

    International Nuclear Information System (INIS)

    1986-05-01

    The Nuclear Waste Policy Act of 1982 (42 USC sections 10101-10226) requires the environmental assessment of a proposed site to include a statement of the basis for nominating a site as suitable for characterization. Volume 2 provides a detailed statement evaluating the site suitability of the Deaf Smith County Site under DOE siting guidelines, as well as a comparison of the Deaf Smith County Site to the other sites under consideration. The evaluation of the Deaf Smith County Site is based on the impacts associated with the reference repository design, but the evaluation will not change if based on the Mission Plan repository concept. The second part of this document compares the Deaf Smith County Site to Davis Canyon, Hanford, Richton Dome and Yucca Mountain. This comparison is required under DOE guidelines and is not intended to directly support subsequent recommendation of three sites for characterization as candidate sites. 259 refs., 29 figs., 66 refs

  7. Vocational Orientation of the Deaf Pupils

    OpenAIRE

    Sobolevská, Šárka

    2017-01-01

    The main goal of the bachelor thesis is to learn about vocational orientation of deaf pupils in their last years of study at selected elementary schools for the Deaf and to compare the results to results of similar studies done with pupils without hearing impairment. Based on relevant scientific sources, the paper introduces general aspects that shape vocational orientation, also describes vocational development on D. E. Super's Career Development Theory. The thesis continues with characteriz...

  8. Familial recurrence-pattern analysis of nonsyndromic isolated cleft palate - A Danish registry study

    Energy Technology Data Exchange (ETDEWEB)

    Christensen, K. [Aarhus Univ. (Denmark)]|[Odense Univ. Medical School (Denmark); Mitchell, L.E. [Aarhus Univ. (Denmark)]|[St. Louis Univ. School of Public Health, MO (United States)

    1996-01-01

    The finding of an association between genetic variation at the transforming growth-factor alpha (TGFA) locus and nonsyndromic isolated cleft palate (CP) represents a potentially important breakthrough in our understanding of this condition. The present study was undertaken to assess the feasibility of detecting linkage to putative CP-susceptibility loci, such as TGFA. To this end, the familial recurrence pattern for CP was evaluated to determine the most likely mode of inheritance for this condition. The study took advantage of the high ascertainment and uniform registration of CP in Denmark. In addition, the study utilized estimates of familial recurrence that were obtained by register linkage and, hence, were not subject to either recall bias or the potentially biasing influence of nonresponders. The recurrence risks for first-, second-, and third-degree relatives of 1,364 nonsyndromic CP probands were estimated to be 2.74% (72/2,628), 0.28% (3/1,068), and 0.00% (0/360), respectively. These estimates are close to published estimates based on questionnaire and interview data. The population prevalence for nonsyndromic CP was, however, found to be considerable higher than usually reported (0.058% [1,456/2,523,023]). Analyses of these and previously published data, using the method presented by Risch, indicated that major-locus or additive multilocus inheritance of CP is unlikely. The familial recurrence pattern was, however, consistent with CP being determined by several interacting loci. Under such a model, a single locus accounting for more than a sixfold increase in the risk to first-degree relatives of CP probands is unlikely, whereas a single locus accounting for a threefold increase provided a good fit to the data. Such a locus could be detected in a realistic sample of affected sib pairs. 26 refs., 3 tabs.

  9. Stigma in Mothers of Deaf Children

    Directory of Open Access Journals (Sweden)

    Hossein Ebrahimi

    2015-03-01

    Full Text Available Introduction: A deaf child creates a feeling of stigma in many hearing parents. Stigma in mothers can have a negative impact on a child’s treatment and rehabilitation process. Therefore, this study was conducted to evaluate the extent of stigma in mothers with deaf children.  Materials and Methods: This descriptive, cross-sectional study was conducted in 2013 among 90 mothers with deaf children. The data-collection instrument included the stigma scale in the mothers of children with disabilities. The reliability and validity of the instrument were confirmed through content validity and Cronbach’s alpha coefficient (α=86%, respectively. Data were analyzed using SPSS-15 software.   Results: Results showed that most mothers suffer from stigma due to having a deaf child. The mean stigma score was 96.48 ±27.72. In total, 24.4% of mothers reported that they had received strange and mocking looks; 72.2% regarded child deafness as a sign of divine retribution; and 33.3% felt ashamed of their child’s deafness. There was an inverse relationship between the mother’s level of education and mean stigma scores (P

  10. Multiple keratocystic odontogenic tumors in a non-syndromic minor patient: Report of an unusual case

    Directory of Open Access Journals (Sweden)

    Shalu Rai

    2013-01-01

    Full Text Available Keratocystic odontogenic tumor (KCOT is developmental odontogenic cysts of epithelial origin known for their potentially aggressive behavior and significant rate of recurrences. Single odontogenic cysts are very well documented in the literature. Multiple (KCOT are principle features of nevoid basal cell carcinoma syndrome (naevoid basal cell carcinoma syndrome; Gorlin-Goltz syndrome. We report an intriguing case of multiple KCOT in a non-syndromic patient simultaneously occurring in maxilla as well as in mandible with brief highlight on molecular data and the treatment modality.

  11. Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes in two Chinese families

    International Nuclear Information System (INIS)

    Zhu Yi; Qian Yaping; Tang Xiaowen; Wang Jindan; Yang Li; Liao Zhisu; Li Ronghua; Ji Jinzhang; Li Zhiyuan; Chen Jianfu; Choo, Daniel I.; Lu Jianxin; Guan Minxin

    2006-01-01

    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 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

  12. Whose Deaf Genes Are They Anyway?: The Deaf Community's Challenge to Legislation on Embryo Selection

    Science.gov (United States)

    Emery, Steven D.; Middleton, Anna; Turner, Graham H.

    2010-01-01

    This article centers on the implications of genetic developments (as a scientific and technological discipline) for those Deaf people who identify as a cultural and linguistic minority group and are concerned with the preservation and development of sign language and Deaf culture. We explore the impact of one particular legislative initiative that…

  13. Access to English Language Acquisition in Ghana Schools for the Deaf: Are the Deaf Students Handicapped?

    Science.gov (United States)

    Obosu, Gideon Kwesi; Opoku-Asare, Nana Afia; Deku, Prosper

    2016-01-01

    This paper primarily discusses the challenges deaf students in Ghana are likely to grapple with as they access education provided for them in English language. The arguments discussed in this paper are supported by findings from a multiple site case study of five Schools for the Deaf purposively sampled from four regions of Ghana. Observations…

  14. 34 CFR 396.1 - What is the Training of Interpreters for Individuals Who Are Deaf and Individuals Who Are Deaf...

    Science.gov (United States)

    2010-07-01

    ... Who Are Deaf and Individuals Who Are Deaf-Blind program? 396.1 Section 396.1 Education Regulations of... SERVICES, DEPARTMENT OF EDUCATION TRAINING OF INTERPRETERS FOR INDIVIDUALS WHO ARE DEAF AND INDIVIDUALS WHO ARE DEAF-BLIND General § 396.1 What is the Training of Interpreters for Individuals Who Are Deaf and...

  15. Candidate gene association studies in syndromic and non-syndromic cleft lip and palate

    Energy Technology Data Exchange (ETDEWEB)

    Daack-Hirsch, S.; Basart, A.; Frischmeyer, P. [Univ. of Iowa, IA (United States)] [and others

    1994-09-01

    Using ongoing case ascertainment through a birth defects registry, we have collected 219 nuclear families with non-syndromic cleft lip and/or palate and 111 families with a collection of syndromic forms. Syndromic cases include 24 with recognized forms and 72 with unrecognized syndromes. Candidate gene studies as well as genome-wide searches for evidence of microdeletions and isodisomy are currently being carried out. Candidate gene association studies, to date, have made use of PCR-based polymorphisms for TGFA, MSX1, CLPG13 (a CA repeat associated with a human homologue of a locus that results in craniofacial dysmorphogenesis in the mouse) and an STRP found in a Van der Woude syndrome microdeletion. Control tetranucleotide repeats, which insure that population-based differences are not responsible for any observed associations, are also tested. Studies of the syndromic cases have included the same list of candidate genes searching for evidence of microdeletions and a genome-wide search using tri- and tetranucleotide polymorphic markers to search for isodisomy or structural rearrangements. Significant associations have previously been identified for TGFA, and, in this report, identified for MSX1 and nonsyndromic cleft palate only (p = 0.04, uncorrected). Preliminary results of the genome-wide scan for isodisomy has returned no true positives and there has been no evidence for microdeletion cases.

  16. Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO)

    Energy Technology Data Exchange (ETDEWEB)

    Shiang, R. (Univ. of California, Irvine, CA (United States)); Lidral, A.C.; Ardinger, H.H.; Murray, J.C.; Romitti, P.A.; Munger, R.G.; Buetow, K.H.

    1993-10-01

    Genetic analysis and tissue-specific expression studies support a role for transforming growth-factor alpha (TGFA) in craniofacial development. Previous studies have confirmed an association of alleles for TGFA with nonsyndromic cleft lip with or without cleft palate (CL/P) in humans. The authors carried out a retrospective association study to determine whether specific allelic variants of the TGFA gene are also associated with cleft palate only (CPO). The PCR products from 12 overlapping sets of primers to the TGFA cDNA were examined by using single-strand conformational polymorphism analysis. Four DNA polymorphic sites for TGFA were identified in the 3[prime] untranslated region of the TGFA gene. These variants, as well as previously identified RFLPs for TGFA, were characterized in case and control populations for CPO by using X[sup 2] analysis. A significant association between alleles of TGFA and CPO was identified which further supports a role for this gene as one of the genetic determinants of craniofacial development. Sequence analysis of the variants disclosed a cluster of three variable sites within 30 bp of each other in the 3[prime] untranslated region previously associated with an antisense transcript. These studies extend the role for TGFA in craniofacial morphogenesis and support an interrelated mechanism underlying nonsyndromic forms of CL/P. 46 refs., 3 figs., 3 tabs.

  17. Genetic Defects Underlie the Non-syndromic Autosomal Recessive Intellectual Disability (NS-ARID

    Directory of Open Access Journals (Sweden)

    Saleha Shamim

    2017-05-01

    Full Text Available Intellectual disability (ID is a neurodevelopmental disorder which appears frequently as the result of genetic mutations and may be syndromic (S-ID or non-syndromic (NS-ID. ID causes an important economic burden, for patient's family, health systems, and society. Identifying genes that cause S-ID can easily be evaluated due to the clinical symptoms or physical anomalies. However, in the case of NS-ID due to the absence of co-morbid features, the latest molecular genetic techniques can be used to understand the genetic defects that underlie it. Recent studies have shown that non-syndromic autosomal recessive (NS-ARID is extremely heterogeneous and contributes much more than X-linked ID. However, very little is known about the genes and loci involved in NS-ARID relative to X-linked ID, and whose complete genetic etiology remains obscure. In this review article, the known genetic etiology of NS-ARID and possible relationships between genes and the associated molecular pathways of their encoded proteins has been reviewed which will enhance our understanding about the underlying genes and mechanisms in NS-ARID.

  18. Unusual bilateral dentigerous cysts in a nonsyndromic patient assessed by cone beam computed tomography

    Directory of Open Access Journals (Sweden)

    Thais Sumie Imada

    2014-01-01

    Full Text Available In the absence of syndromes, bilateral dentigerous cysts (DC located on the jaws are unusual. In English based language literature review, we only found eight reports of nonsyndromic bilateral dentigerous cyst associated with mandibular third molars. Therefore, we report the unusual occurrence of sizable nonsyndromic bilateral DC associated with mandibular impacted third molars in a 42-year-old Caucasian woman. The lesions were assessed by cone beam computed tomography (CBCT the right lesion showed approximately 23.64 mm and the left one, 16.57 mm diameter, both located intimately next to the mandibular canal. Bilateral surgical enucleation, related teeth excision of both third molars and plate for fixation placement on the right and bigger lesion, under general anesthesia was the final treatment choice. Clinical, radiographic and histopathological features confirmed diagnose of bilateral dentigerous cyst. Now-a-days, the patient is on 18 months radiograph follow-up with favorable osseous formation with no evidence of recurrence of the cysts.

  19. Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons

    Science.gov (United States)

    Griesi-Oliveira, Karina; Acab, Allan; Gupta, Abha R.; Sunaga, Daniele Yumi; Chailangkarn, Thanathom; Nicol, Xavier; Nunez, Yanelli; Walker, Michael F.; Murdoch, John D.; Sanders, Stephan J.; Fernandez, Thomas V.; Ji, Weizhen; Lifton, Richard P.; Vadasz, Estevão; Dietrich, Alexander; Pradhan, Dennis; Song, Hongjun; Ming, Guo-li; Guoe, Xiang; Haddad, Gabriel; Marchetto, Maria C. N.; Spitzer, Nicholas; Passos-Bueno, Maria Rita; State, Matthew W.; Muotri, Alysson R.

    2014-01-01

    An increasing number of genetic variants have been implicated in autism spectrum disorders (ASD), and the functional study of such variants will be critical for the elucidation of autism pathophysiology. Here, we report a de novo balanced translocation disruption of TRPC6, a cation channel, in a non-syndromic autistic individual. Using multiple models, such as dental pulp cells, iPSC-derived neuronal cells and mouse models, we demonstrate that TRPC6 reduction or haploinsufficiency leads to altered neuronal development, morphology, and function. The observed neuronal phenotypes could then be rescued by TRPC6 complementation and by treatment with IGF1 or hyperforin, a TRPC6-specific agonist, suggesting that ASD individuals with alterations in this pathway might benefit from these drugs. We also demonstrate that MeCP2 levels affect TRPC6 expression. Mutations in MeCP2 cause Rett syndrome, revealing common pathways among ASDs. Genetic sequencing of TRPC6 in 1041 ASD individuals and 2872 controls revealed significantly more nonsynonymous mutations in the ASD population, and identified loss-of-function mutations with incomplete penetrance in two patients. Taken together, these findings suggest that TRPC6 is a novel predisposing gene for ASD that may act in a multiple-hit model. This is the first study to use iPSC-derived human neurons to model non-syndromic ASD and illustrate the potential of modeling genetically complex sporadic diseases using such cells. PMID:25385366

  20. Characteristics of Individuals with Congenital and Acquired Deaf-Blindness

    Science.gov (United States)

    Dalby, Dawn M.; Hirdes, John P.; Stolee, Paul; Strong, J. Graham; Poss, Jeff; Tjam, Erin Y.; Bowman, Lindsay; Ashworth, Melody

    2009-01-01

    Using a standardized assessment instrument, the authors compared 182 adults with congenital deaf-blindness and those with acquired deaf-blindness. They found that those with congenital deaf-blindness were more likely to have impairments in cognition, activities of daily living, and social interactions and were less likely to use speech for…

  1. "The Real World": Workplace Literacy for Deaf Adults.

    Science.gov (United States)

    Rach, Leslie; Dreher, Mariam Jean

    1998-01-01

    Examines three work sites employing deaf individuals (graduates of Gallaudet University), investigating how much time deaf adults spend reading and writing on the job; what types of reading and writing activities they engage in; how deaf employees communicate with their hearing supervisors/co-workers; and what their perceptions are of literacy…

  2. Influences on Facial Emotion Recognition in Deaf Children

    Science.gov (United States)

    Sidera, Francesc; Amadó, Anna; Martínez, Laura

    2017-01-01

    This exploratory research is aimed at studying facial emotion recognition abilities in deaf children and how they relate to linguistic skills and the characteristics of deafness. A total of 166 participants (75 deaf) aged 3-8 years were administered the following tasks: facial emotion recognition, naming vocabulary and cognitive ability. The…

  3. Reading Efficiency of Deaf and Hearing People in Spanish

    Science.gov (United States)

    Moreno-Pérez, Francisco J.; Saldaña, David; Rodríguez-Ortiz, Isabel R.

    2015-01-01

    Different studies have showed poor reading performance in the deaf compared to the hearing population. This has overshadowed the fact that a minority of deaf children learns to read successfully and reaches levels similar to their hearing peers. We analyze whether deaf people deploy the same cognitive and learning processes in reading as their…

  4. Reaching the Summit: Deaf Adults as Essential Partners in Education

    Science.gov (United States)

    Bourne-Firl, Bridgetta

    2016-01-01

    How do we reach the summit in terms of supporting the best transition possible for each young deaf or hard of hearing individual in the United States? Should professionals who are hearing work alone to succeed with deaf and hard of hearing students? No matter how good the intention, if we want deaf and hard of hearing students to transition from…

  5. 77 FR 20553 - Relay Services for Deaf-Blind Individuals

    Science.gov (United States)

    2012-04-05

    ... for Deaf-Blind Individuals AGENCY: Federal Communications Commission. ACTION: Final rule; waiver of requirement. SUMMARY: In this document, the Commission conditionally waives the requirement for National Deaf... participants to fully meet the needs of eligible low- income, deaf-blind individuals in a timely manner. DATES...

  6. Effects on Deaf Patients of Medication Education by Pharmacists

    Science.gov (United States)

    Hyoguchi, Naomi; Kobayashi, Daisuke; Kubota, Toshio; Shimazoe, Takao

    2016-01-01

    Deaf people often experience difficulty in understanding medication information provided by pharmacists due to communication barriers. We held medication education lectures for deaf and hard of hearing (HH) individuals and examined the extent to which deaf participants understood medication-related information as well as their attitude about…

  7. The Relationship Between Cochlear Implants and Deaf Identity

    DEFF Research Database (Denmark)

    Chapman, Madeleine; Dammeyer, Jesper

    2017-01-01

    from a Danish national survey of deaf adults, the authors examined the significance of having (or not having) a CI in regard to identity (categorized as deaf, hearing, bicultural, and marginal) and various related factors concerning social participation and experiences of being deaf. Cochlear...

  8. The Importance of Early Sign Language Acquisition for Deaf Readers

    Science.gov (United States)

    Clark, M. Diane; Hauser, Peter C.; Miller, Paul; Kargin, Tevhide; Rathmann, Christian; Guldenoglu, Birkan; Kubus, Okan; Spurgeon, Erin; Israel, Erica

    2016-01-01

    Researchers have used various theories to explain deaf individuals' reading skills, including the dual route reading theory, the orthographic depth theory, and the early language access theory. This study tested 4 groups of children--hearing with dyslexia, hearing without dyslexia, deaf early signers, and deaf late signers (N = 857)--from 4…

  9. Deaf and Hearing Children: A Comparison of Peripheral Vision Development

    Science.gov (United States)

    Codina, Charlotte; Buckley, David; Port, Michael; Pascalis, Olivier

    2011-01-01

    This study investigated peripheral vision (at least 30[degrees] eccentric to fixation) development in profoundly deaf children without cochlear implantation, and compared this to age-matched hearing controls as well as to deaf and hearing adult data. Deaf and hearing children between the ages of 5 and 15 years were assessed using a new,…

  10. Sensitivity to Conversational Maxims in Deaf and Hearing Children

    Science.gov (United States)

    Surian, Luca; Tedoldi, Mariantonia; Siegel, Michael

    2010-01-01

    We investigated whether access to a sign language affects the development of pragmatic competence in three groups of deaf children aged 6 to 11 years: native signers from deaf families receiving bimodal/bilingual instruction, native signers from deaf families receiving oralist instruction and late signers from hearing families receiving oralist…

  11. Self-Esteem and Coping Strategies among Deaf Students

    Science.gov (United States)

    Jambor, Edina; Elliott, Marta

    2005-01-01

    Research studies on the determinants of self-esteem of deaf individuals often yield inconsistent findings. The current study assessed the effects on self-esteem of factors related to deafness, such as the means of communication at home and severity of hearing loss with hearing aid, as well as the coping styles that deaf people adopt to cope with…

  12. Issues in the Sexual Molestation of Deaf Youth.

    Science.gov (United States)

    Vernon, McCay; Miller, Katrina R.

    2002-01-01

    Discussion of issues involved in sexual abuse of deaf youth in schools considers characteristics of pedophiles and hebephiles and how sexual offenders are dealt with in the criminal justice system. It suggests ways to prevent sexual abuse of children who are deaf and what to look for in identifying deaf children who are being victimized. (Contains…

  13. Teachers' Perceptions of Communication Needs of Deaf Children in ...

    African Journals Online (AJOL)

    Communication has been identified as one of the greatest areas of difficulty for the deaf. Both the receptive and expressive communication pose barriers in almost all aspects of life of the deaf. This study endeavors to examine teachers' perceptions of communication needs of deaf children in Kenyan school system.

  14. Rubella Deaf-Blind Child: Implications of Psychological Assessment. Proceedings.

    Science.gov (United States)

    Rouin, Carole

    Presented are proceedings of a conference involving authorities in testing and evaluating the blind, deaf, and deaf-blind. In a paper titled "Psychological Implications of Assessing the Deaf", C. Goetzinger discusses references used in audiology, anatomy and physiology of the ear, degrees of hearing impairment, and implications of the various…

  15. Deaf Employees' Empowerment in Two Different Communication Environments.

    Science.gov (United States)

    Backenroth, G. A. M.

    1997-01-01

    This study with 64 deaf employees working in either signing work groups or nonsigning workgroups found that employees' perceived empowerment was significantly higher in the signing work groups. Deaf associates in signing work groups experienced greater psychological stress and role conflicts, whereas deaf associates in nonsigning groups…

  16. [History of the rehabilitation of the deaf child].

    Science.gov (United States)

    Noyon, P

    1995-01-01

    As a deaf mute, because mute and more often than not deaf, and then deaf and dumb, because deaf and therefore dumb, the deaf child inevitably deprived of spontaneous speech was considered up to the end of the middle ages as having no possibility of language or of thought, left to the sorry fate of being part of a sporadic population expressing themselves by gestures, a language bereft of past and future, understood only by a few members of the family or occasionally deaf neighbours. During the Renaissance, it appeared that with specific education the deaf child could talk, have a language, and therefore thought. Due merit must be given to 16th century Spain. In the 18th century, France discovered that gestures can also be a language, collated and constructed thanks to the collaboration of the partially deaf. From then on, gestual language flourished in America whilst the rest of Europe continued to prefer oral rehabilitation. With current medical progress, the deaf are no longer deaf. Deafness in the child still exists, however, but there are no longer any mutes. The deaf child can achieve access to language, which may be oral or gestual. The choice between these two modes of expression is still very tropical.

  17. X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate

    DEFF Research Database (Denmark)

    Kimani, Jane W; Shi, Min; Daack-Hirsch, Sandra

    2007-01-01

    Nonsyndromic clefts of the lip and/or palate are common birth defects with a strong genetic component. Based on unequal gender ratios for clefting phenotypes, evidence for linkage to the X chromosome and the occurrence of several X-linked clefting syndromes, we investigated the role of skewed X c...

  18. Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Carlson, Jenna C; Shaffer, John R

    2017-01-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a group of common human birth defects with complex etiology. Although genome-wide association studies have successfully identified a number of risk loci, these loci only account for about 20% of the heritability of orofacial clefts. ...

  19. Symptoms of Autism in Males with Fragile X Syndrome: A Comparison to Nonsyndromic ASD Using Current ADI-R Scores

    Science.gov (United States)

    McDuffie, Andrea; Thurman, Angela John; Hagerman, Randi J.; Abbeduto, Leonard

    2015-01-01

    Symptoms of autism are frequent in males with fragile X syndrome (FXS), but it is not clear whether symptom profiles differ from those of nonsyndromic ASD. Using individual item scores from the Autism Diagnostic Inventory-Revised, we examined which current symptoms of autism differed in boys with FXS relative to same-aged boys diagnosed with…

  20. On the possibilities and limits of "DEAF DEAF SAME": Tourism and empowerment camps in Adamorobe (Ghana), Bangalore and Mumbai (India).

    OpenAIRE

    Michele Ilana Friedner; Annelies Kusters

    2014-01-01

    This article qualitatively analyzes the ways that the discourse of "deaf universalism" circulates within two common deaf practices: tourism and engaging in interventions. Arguing that the largely Northern-situated discipline of Deaf Studies does not adequately examine how deaf bodies and discourses travel, ethnographic data compiled in India and Ghana during transnational encounters is employed to examine how claims of "sameness" and "difference" are enacted and negotiated. Similarly, this ar...

  1. Stigma in mothers of deaf children.

    Science.gov (United States)

    Ebrahimi, Hossein; Mohammadi, Eissa; Mohammadi, Mohammad Ali; Pirzadeh, Akbar; Mahmoudi, Hamzeh; Ansari, Ismail

    2015-03-01

    A deaf child creates a feeling of stigma in many hearing parents. Stigma in mothers can have a negative impact on a child's treatment and rehabilitation process. Therefore, this study was conducted to evaluate the extent of stigma in mothers with deaf children. This descriptive, cross-sectional study was conducted in 2013 among 90 mothers with deaf children. The data-collection instrument included the stigma scale in the mothers of children with disabilities. The reliability and validity of the instrument were confirmed through content validity and Cronbach's alpha coefficient (α=86%), respectively. Data were analyzed using SPSS-15 software. Results showed that most mothers suffer from stigma due to having a deaf child. The mean stigma score was 96.48 ±27.72. In total, 24.4% of mothers reported that they had received strange and mocking looks; 72.2% regarded child deafness as a sign of divine retribution; and 33.3% felt ashamed of their child's deafness. There was an inverse relationship between the mother's level of education and mean stigma scores (P<0.033). The stigma score was higher in mothers who were living independently of their relatives (P<0.029). The mean stigma score in mothers of children with a cochlear implant was lower than that of mothers of children with earphones (86.70 vs. 99.64), and this difference tended towards significance (P=0.057). This study showed that half of all mothers with deaf children were scorned and felt ashamed of having a deaf child in the family because of the stigma. The majority of mothers with deaf children felt stigmatized, and only their education and residency status affected this issue. The mothers of cochlear-implanted children perceived less stigma. Due to the various social and psychological problems caused by hearing impairment, it is necessary to consider the emotional health and psychological state of the mothers in addition to rehabilitation programs and standard services for the children themselves.

  2. Gênero e surdez / Gender and deafness

    Directory of Open Access Journals (Sweden)

    Madalena Klein

    2007-01-01

    Full Text Available Este artigo propõe-se discutir a temática da surdez, articulando-a com discussões referentes a gênero e sexualidade, tomando por referência autores da perspectiva dosEstudos Culturais em Educação e dos Estudos Surdos. A surdez e os surdos, assim como o gênero, são entendidos a partir da diferença cultural. No mercado de trabalho em geral, as surdas são discriminadas, porém são a maioria no professorado, o que é uma conseqüência da feminização do trabalho docente. A crescente presença feminina na liderança dos movimentos surdos pode estar relacionada a essa maioria de professoras, que carregam para os movimentos características da organização escolar. Analisamos dois artigos sobre o tema, além de um encontro sobre mulheres surdas ocorrido em Pelotas – RS, onde as participantes destacaram seu papel na luta política da associação dos surdos, enquanto aos homens cabe o papel de organizar as atividades de lazer e esportes. A luta pelos direitos das mulheres surdas vem crescendo no Brasil e há necessidade de haver mais estudos sobre essa temática.Abstract This paper discusses the topic of deafness, articulating it with discussions referring to gender and sexuality, based on authors from the perspectives of Cultural Studies in Education and Deaf Studies. Deafness and deaf people, as the gender issue, are understood through a cultural difference perspective. Deaf women are discriminated inthe workplace in general, but they are the majority in the teaching profession, a consequence of the feminization of the teaching work. The increasing female presence as leaders of deaf movements may be related to this greater rate of women as teachers, who carry the features of the school organization onto the movements. Two papers onthe topic were examined, as well as a meeting on deaf women occurring in Pelotas – RS, whose participants highlighted their role in the political struggle by the deaf people’s association, while men take

  3. Health Care Access Among Deaf People.

    Science.gov (United States)

    Kuenburg, Alexa; Fellinger, Paul; Fellinger, Johannes

    2016-01-01

    Access to health care without barriers is a clearly defined right of people with disabilities as stated by the UN Convention on the Rights of People with Disabilities. The present study reviews literature from 2000 to 2015 on access to health care for deaf people and reveals significant challenges in communication with health providers and gaps in global health knowledge for deaf people including those with even higher risk of marginalization. Examples of approaches to improve access to health care, such as providing powerful and visually accessible communication through the use of sign language, the implementation of important communication technologies, and cultural awareness trainings for health professionals are discussed. Programs that raise health knowledge in Deaf communities and models of primary health care centers for deaf people are also presented. Published documents can empower deaf people to realize their right to enjoy the highest attainable standard of health. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  4. Health promotion of families of deaf children

    Directory of Open Access Journals (Sweden)

    Mirna Albuquerque Frota

    2012-06-01

    Full Text Available Objective: To investigate the impact of hearing loss in the family dynamics of the deaf child; identify the family’s knowledge about deafness, understand how parents experience the diagnosis and treatment of child with hearing impairment. Methods: The study has aqualitative approach developed at the Center for Integrated Medical Care - NAMI, attached to the University of Fortaleza - UNIFOR located in Fortaleza - CE, Brazil. The participants were six mothers of children with hearing impairment. Data collection was carried outthrough participant observation and semi-structured interview. The Thematic Analysis of Bardin was used for processing the data. Results: After coding, some categories emerged from the discourse: Misinformation of Hearing Loss; impact of the discovery of hearingloss, caregivers and facilitators of the development of the deaf children. Conclusion: The birth of a deaf child alters the previous family balance, causing specific problems, such as the communication barrier, whose solution is related to how to handle the situation. Itis necessary to promote changes, emphasizing the involvement of caregivers and loved as facilitators of deaf child’s development. In Phonoaudiology, this attitude represents discovering new ways to identify the need for the subject, which requires strategies thatvalue their opinion, allowing the expression of expectations, perceptions, representations and feelings.

  5. Rehabilitation of deaf persons with cochlear implants

    International Nuclear Information System (INIS)

    Gstoettner, W.; Hamzavi, J.; Czerny, C.

    1997-01-01

    In the last decade, the rehabilitation of postlingually deaf adults and prelingually deaf children with cochlear implants has been established as a treatment of deafness. The technological development of the implant devices and improvement of the surgical technique have led to a considerable increase of hearing performance during the last years. The postlingually deaf adults are able to use the telephone and may be integrated in their original job. Prelingually deaf children can even visit normal schools after cochlear implantation and hearing rehabilitation training. In order to preoperatively establish the state of the cochlear, radiological diagnosis of the temporal bone is necessary. High resolution computerized tomography imaging of the temporal bone with coronar and axial 1 mm slices and MRI with thin slice technique (three dimensional, T2 weighted turbo-spinecho sequence with 0.7 mm slices) have proved to be valuable according to our experience. Furthermore a postoperative synoptical X-ray, in a modified Chausse III projection, offers good information about the position of the implant and insertion of the stimulating electrode into the cochlea. (orig.) [de

  6. Deaf murderers: clinical and forensic issues.

    Science.gov (United States)

    Vernon, M; Steinberg, A G; Montoya, L A

    1999-01-01

    Data are reported on 28 deaf individuals who were convicted, pled guilty, or have been charged and awaiting trial for murder. The unique forensic issues raised by these cases are discussed, and their clinical picture presented. A significant percentage of these deaf murderers and defendants had such severely limited communication skills in both English and American Sign Language that they lacked the linguistic ability to understand the charges against them and/or to participate in their own defense. As such, they were incompetent to stand trial, due not to mental illness or mental retardation, but to linguistic deficits. This form of incompetence poses a dilemma to the courts that remains unresolved. This same linguistic disability makes it impossible for some deaf suspects to be administered Miranda Warnings in a way comprehensible to them. This paper identifies the reasons for the communication problems many deaf persons face in court and offers remedial steps to help assure fair trials and police interrogations for deaf defendants. The roles and responsibilities of psychiatric and psychological experts in these cases are discussed. Data are provided on the etiology of the 28 individuals' hearing losses, psychiatric/psychological histories, IQs, communication characteristics, educational levels, and victim characteristics. Copyright 1999 John Wiley & Sons, Ltd.

  7. The Attitudes of the Holy Land Institute for the Deaf-Salt, Jordan towards Deaf Socially and Educationally

    Science.gov (United States)

    Ziadat, Ayed H.; Atiyat, Fatima A.

    2018-01-01

    The study aimed to recognize the attitudes of the Holy Land Institute for the Deaf-Salt, Jordan towards Deaf Socially and Educationally in the academic year 2016-2017, which consists of instructional and vocational staff towards deaf socially and educationally according to some variables (gender, age, the level of education). The sample of the…

  8. Deaf Culture and Competing Discourses in a Residential School for the Deaf: "Can Do" versus "Can't Do"

    Science.gov (United States)

    O'Brien, Catherine A.; Placier, Peggy

    2015-01-01

    From an ethnographic case study of a state-funded residential school for the Deaf, the authors employed Critical Discourse Analysis to identify competing discourses in the talk of educators. These discourses are embedded in the historical oppression and labeling of deaf people as disabled and the development of Deaf culture as a counter-discourse.…

  9. Prevalence of Dental Anomalies in Patients With Nonsyndromic Cleft Lip and/or Palate in a Brazilian Population.

    Science.gov (United States)

    Paranaiba, Lívia Máris Ribeiro; Coletta, Ricardo D; Swerts, Mário Sérgio Oliveira; Quintino, Rafaela Pacífico; de Barros, Letízia Monteiro; Martelli-Júnior, Hercílio

    2013-07-01

    Objective : Many studies have demonstrated a high frequency of dental anomalies in patients with cleft lip and/or palate. Because dental anomalies may complicate dental treatment, we investigated the prevalence of dental anomalies in a group of Brazilian patients with nonsyndromic cleft lip and/or palate. Design, Participants, Setting : Retrospective analysis was performed using clinical records of 296 patients aged between 12 and 30 years with repaired nonsyndromic cleft lip and/or palate without history of tooth extraction and orthodontic treatment. Associations between oral clefts and presence of dental anomalies outside the cleft area were investigated. Results : Dental anomalies were identified in 39.9% of the nonsyndromic cleft lip and/or palate patients, and tooth agenesis (47.5%), impacted tooth (13.1%), and microdontia (12.7%) were the most common anomalies. Cleft lip patients were less affected by dental anomalies compared with cleft palate or cleft lip and palate patients (p  =  .057). Specifically, patients with unilateral cleft lip and palate were significantly more affected by dental anomalies than those with bilateral cleft lip and palate (p  =  .00002), and individuals with unilateral complete cleft lip and palate (p  =  .002) and complete cleft palate (p  =  .01) were significantly more affected by tooth agenesis than other cleft types. Agenesis of the premolars (p  =  .043) and maxillary lateral incisors (p  =  .03) were significantly more frequent in patients with unilateral complete cleft lip and palate. Conclusions : The present study revealed a high frequency of dental anomalies in nonsyndromic cleft lip and/or palate patients and further demonstrated that patients with unilateral cleft lip and palate were frequently more affected by dental anomalies than those with bilateral cleft lip and palate. Moreover, our results demonstrate that dental anomalies should be considered during dental treatment planning for

  10. Aetiological diagnosis of child deafness: CODEPEH recommendations.

    Science.gov (United States)

    Núñez-Batalla, Faustino; Jáudenes-Casaubón, Carmen; Sequí-Canet, Jose Miguel; Vivanco-Allende, Ana; Zubicaray-Ugarteche, Jose; Cabanillas-Farpón, Rubén

    Important progress in the fields of molecular genetics (principally) and diagnostic imaging, together with the lack of a consensus protocol for guiding the diagnostic process after confirming deafness by neonatal screening, have led to this new work document drafted by the Spanish Commission for the Early Detection of Child Deafness (Spanish acronym: CODEPEH). This 2015 Recommendations Document, which is based on the most recent scientific evidence, provides guidance to professionals to support them in making decisions regarding aetiological diagnosis. Such diagnosis should be performed without delay and without impeding early intervention. Early identification of the causes of deafness offers many advantages: it prevents unnecessary trouble for the families, reduces health system expenses caused by performing different tests, and provides prognostic information that may guide therapeutic actions. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. All rights reserved.

  11. Deafness, a Social Stigma: Physician Perspective.

    Science.gov (United States)

    Taneja, M K

    2014-12-01

    Hearing is an essential sensory sense of an individual for development of speech which is crucial for verbal communication and personality development. It is the second most common form of disability after loco motor disability in India. Disabling hearing loss is more than 40 dB hearing loss in better ear in a person more than 15 years of age and greater than 30 dB hearing loss in better hearing ear below 14 years of age. WHO estimated 360 million individuals in the world with disabling hearing loss, out of which 91 % are adults and only 9 % are children. Early and accurate identification of birth asphyxia, hyperbilirubinemia, auditory neuropathy Presbyacusis and avoiding noise pollution and discouraging use of mobile phone, tobacco chewing/smoking, in those who are prone to deafness, an intervention is a must to decrease deafness from our society. Deafness prevention can only be possible with mutual cooperation with dedication of different medical and non-medical personnel and also by helping the persons with deafness. We have to focus not only on the children but also on senior citizens as most alarming, up to 40 %, incidence of deafness is in senior citizens above the age of 75 years. Timely cure and preventive measures are essential for better socio-economic state of the country. By helping the persons with deafness, we will not only be doing a great service to the Nation but also to the society at large.

  12. Dementia and the Deaf community: knowledge and service access.

    Science.gov (United States)

    Ferguson-Coleman, Emma; Keady, John; Young, Alys

    2014-01-01

    This study concerns culturally Deaf people in the United Kingdom who use British Sign Language (BSL). Its objective was to explore how Deaf people's knowledge about dementia and access to services is mediated by their minoritised cultural-linguistic status. Twenty-six members of the Deaf community participated in one of three Deaf-led focus groups in BSL corresponding with the sample of: Deaf people over the age of 60 without dementia; Deaf people aged 18-60 working professional roles unconnected with dementia services; ordinary members of the Deaf community aged 18-60. Data were subjected to a thematic content analysis. Participants' concerns about their poor levels of knowledge and understanding of dementia were augmented by their awareness that without sustained social contact in BSL opportunities for earlier recognition of dementia would be lost. Although primary care services were identified as the first port of call for dementia-related concerns, there was widespread mistrust of their effectiveness because of failures in communication and cultural competence. Confirmed diagnosis of dementia was not viewed as a gateway to services and support because Deaf organisations, dementia-related organisations and mainstream adult services were perceived to be ill-equipped to respond to the needs of Deaf people with dementia. Locating problems of late diagnosis within the Deaf community's poor awareness and knowledge of dementia fails to recognise the structural barriers Deaf people face in timely access to services and accurate recognition of dementia-related changes.

  13. MRI Findings in 77 Children with Non-Syndromic Autistic Disorder

    Science.gov (United States)

    Boddaert, Nathalie; Zilbovicius, Mônica; Philipe, Anne; Robel, Laurence; Bourgeois, Marie; Barthélemy, Catherine; Seidenwurm, David; Meresse, Isabelle; Laurier, Laurence; Desguerre, Isabelle; Bahi-Buisson, Nadia; Brunelle, Francis; Munnich, Arnold; Samson, Yves; Mouren, Marie-Christine; Chabane, Nadia

    2009-01-01

    Background The clinical relevance of MR scanning in children with autism is still an open question and must be considered in light of the evolution of this technology. MRI was judged to be of insufficient value to be included in the standard clinical evaluation of autism according to the guidelines of the American Academy of Neurology and Child Neurology Society in 2000 [1]. However, this statement was based on results obtained from small samples of patients and, more importantly, included mostly insufficient MRI sequences. Our main objective was to evaluate the prevalence of brain abnormalities in a large group of children with a non-syndromic autistic disorder (AD) using T1, T2 and FLAIR MRI sequences. Methodology MRI inspection of 77 children and adolescents with non-syndromic AD (mean age 7.4±3.6) was performed. All met the DSM-IV and ADI –R criteria for autism. Based on recommended clinical and biological screenings, we excluded patients with infectious, metabolic or genetic diseases, seizures or any other neurological symptoms. Identical MRI inspections of 77 children (mean age 7.0±4.2) without AD, developmental or neurological disorders were also performed. All MRIs were acquired with a 1.5-T Signa GE (3-D T1-FSPGR, T2, FLAIR coronal and axial sequences). Two neuroradiologists independently inspected cortical and sub-cortical regions. MRIs were reported to be normal, abnormal or uninterpretable. Principal Findings MRIs were judged as uninterpretable in 10% (8/77) of the cases. In 48% of the children (33/69 patients), abnormalities were reported. Three predominant abnormalities were observed, including white matter signal abnormalities (19/69), major dilated Virchow–Robin spaces (12/69) and temporal lobe abnormalities (20/69). In all, 52% of the MRIs were interpreted as normal (36/69 patients). Conclusions An unexpectedly high rate of MRI abnormalities was found in the first large series of clinical MRI investigations in non-syndromic autism. These

  14. Monitoring the Achievement of Deaf Pupils in Sweden and Scotland

    DEFF Research Database (Denmark)

    Hendar, Nils Ola Ebbe; O'Neill, Rachel

    2016-01-01

    Over the past two decades there have been major developments in deaf education in many countries. Medical and technical advances have made it possible for more deaf children to hear and speak successfully. Most deaf pupils learn in ordinary classes in mainstream schools. In this article we explore...... patterns of achievements of deaf pupils to see if these reforms had improved attainment outcomes. International surveys such as PISA do not include deaf pupils. This article describes two independent large-scale surveys about deaf pupils in Sweden and Scotland. The similar results from both countries show...... that deaf children, after two decades of social reform and technical advances, still lag behind their hearing peers. The results also show how large-scale surveys can contribute to a greater understanding of educational outcomes in a small, vulnerable group and make it possible to continue to reform...

  15. Ethical Issues in Conducting Research With Deaf Populations

    Science.gov (United States)

    Schlehofer, Deirdre; Thew, Denise

    2013-01-01

    Deaf American Sign Language (ASL) users represent a small population at risk for marginalization from research and surveillance activities resulting from cultural, language, and ethical challenges. The Deaf community’s view of deafness as a cultural identity, rather than a disability, contradicts the medical community’s perception of deafness as a disease or deficiency in need of correction or elimination. These differences continue to have significant cultural and social implications within the Deaf community, resulting in mistrust of research opportunities. Two particularly contentious ethical topics for the Deaf community are the absence of community representation in genetic research and the lack of accessible informed consents and research materials. This article outlines a series of innovative strategies and solutions to these issues, including the importance of community representation and collaboration with researchers studying deaf populations. PMID:24134363

  16. RELATION OF DEAF PERSONS TOWARDS BILINGUALISM AS COMMUNICATION MODE

    Directory of Open Access Journals (Sweden)

    Naim Salkić

    2013-02-01

    Full Text Available Bilingualism of a deaf child implies concurrent cognition and usage of sign language, as community language and oral-voice language as language of greater community in which deaf persons live. Today, most authors consider that deaf persons should know both of these languages and that deaf persons need to be educated in both languages, because of their general communication and complete psycho-social development. Through research on sample of 80 deaf examinees, we affirmed the kind of relation that deaf persons have towards bilingualism, bilingual way of education and communication. The research results have shown that bilingualism and bilingual way of education and communication is acceptable to deaf persons and that there is no statistically significant difference between the sub-samples of examinees.

  17. [Megadolichobasilar anomaly causing acute deafness with vertigo].

    Science.gov (United States)

    Unkelbach, M H; Radeloff, A; Bink, A; Gstöttner, W; Ziemann, U

    2008-01-01

    Megadolichobasilar anomaly, a dilatant arteriopathy of the basilar artery attributable to chronic arterial hypertension, can cause cranial nerve compression syndromes of the cerebellopontine angle or infarcts of the vertebrobasilar circulation. In this paper, we report on a patient with known megadolichobasilar anomaly and a partially thrombosed fusiform aneurysm of the basilar artery, who presented with acute-onset vertigo and subsequent deafness due to thromboembolic occlusion of the labyrinthine artery. Because of the vascular origin of the patient's symptoms, his vertigo disappeared over time while the deafness persisted.

  18. [The daily life of deaf children].

    Science.gov (United States)

    Busquet, D

    1990-09-01

    The loss of hearing modifies in every respect the relations between a child and his environment and results in serious communication problems. An early diagnosis and a coherent management using all the techniques that facilitate communication can thoroughly alter the consequences of deafness. The therapeutic and educative planning must be done by a competent, multidisciplinary team working in close cooperation with the child's parents. The plan must be adjusted to each individual child and constantly readjusted, the target being the social integration of deaf children when they reach adulthood.

  19. Extended visual regions among the deaf

    International Nuclear Information System (INIS)

    Neville, H.; Bavelier, D.

    1996-01-01

    Whatever is the source of the deafness (genetic or acquired in the childhood) it leads to a partial re-arrangement of brain. It has been shown at animals that nerve cells of the auditive cortex acquire some characteristics of the visual nerve cells. At men, the NMR imaging confirms it: it seems that a part of the visual cortex appropriates some cortex zones which are normally intended to audition. It has been verified too that the deaf language solicit more the right hemisphere than the spoken language. (O.M.)

  20. The Development of Analogical Reasoning in Deaf Children and Their Parents' Communication Mode

    Science.gov (United States)

    Bandurski, Marcin; Galkowski, Tadeusz

    2004-01-01

    The purpose of this article is to analyze the results of a study of the development of analogical reasoning in deaf children coming from two different linguistic environments (deaf children of deaf parents--sign language, deaf children of hearing parents--spoken language) and in hearing children, as well as to compare two groups of deaf children…

  1. More on the Effects of Early Manual Communication on the Cognitive Development of Deaf Children.

    Science.gov (United States)

    Zwiebel, Abraham

    1987-01-01

    A study compared intelligence scores of three groups of Israeli deaf children--23 with deaf parents/deaf siblings and manual communication (DpDs), 76 with hearing parents/deaf siblings, and 144 with hearing parents and siblings. The DpDs children were superior to other deaf children and comparable to hearing children on most intelligence measures.…

  2. STATEMENT OF VIEWS RELATING TO THE EDUCATION OF THE DEAF IN THE UNITED STATES--1964.

    Science.gov (United States)

    FELLENDORF, GEORGE W.

    REPRESENTATIVE OF THE VIEWS OF THE ALEXANDER GRAHAM BELL ASSOCIATION FOR THE DEAF, THIS STATEMENT SETS FORTH THE PURPOSES OF THE BELL ASSOCIATION AND DISCUSSES THE FOLLOWING TOPICS ABOUT DEAF EDUCATION--(1) THEIR AMBITIONS FOR ALL DEAF CHILDREN, (2) A CRITIQUE ON THE EDUCATION OF THE DEAF IN THE UNITED STATES, (3) CONCERN FOR DEAF CHILDREN WHO ARE…

  3. Widespread auditory deficits in tune deafness.

    Science.gov (United States)

    Jones, Jennifer L; Zalewski, Christopher; Brewer, Carmen; Lucker, Jay; Drayna, Dennis

    2009-02-01

    The goal of this study was to investigate auditory function in individuals with deficits in musical pitch perception. We hypothesized that such individuals have deficits in nonspeech areas of auditory processing. We screened 865 randomly selected individuals to identify those who scored poorly on the Distorted Tunes test (DTT), a measure of musical pitch recognition ability. Those who scored poorly were given a comprehensive audiologic examination, and those with hearing loss or other confounding audiologic factors were excluded from further testing. Thirty-five individuals with tune deafness constituted the experimental group. Thirty-four individuals with normal hearing and normal DTT scores, matched for age, gender, handedness, and education, and without overt or reported psychiatric disorders made up the normal control group. Individual and group performance for pure-tone frequency discrimination at 1000 Hz was determined by measuring the difference limen for frequency (DLF). Auditory processing abilities were assessed using tests of pitch pattern recognition, duration pattern recognition, and auditory gap detection. In addition, we evaluated both attention and short- and long-term memory as variables that might influence performance on our experimental measures. Differences between groups were evaluated statistically using Wilcoxon nonparametric tests and t-tests as appropriate. The DLF at 1000 Hz in the group with tune deafness was significantly larger than that of the normal control group. However, approximately one-third of participants with tune deafness had DLFs within the range of performance observed in the control group. Many individuals with tune deafness also displayed a high degree of variability in their intertrial frequency discrimination performance that could not be explained by deficits in memory or attention. Pitch and duration pattern discrimination and auditory gap-detection ability were significantly poorer in the group with tune deafness

  4. Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate

    DEFF Research Database (Denmark)

    Beaty, Terri H; Ruczinski, Ingo; Murray, Jeffrey C

    2011-01-01

    Nonsyndromic cleft palate (CP) is a common birth defect with a complex and heterogeneous etiology involving both genetic and environmental risk factors. We conducted a genome-wide association study (GWAS) using 550 case-parent trios, ascertained through a CP case collected in an international...... consortium. Family-based association tests of single nucleotide polymorphisms (SNP) and three common maternal exposures (maternal smoking, alcohol consumption, and multivitamin supplementation) were used in a combined 2 df test for gene (G) and gene-environment (G × E) interaction simultaneously, plus...... multiple SNPs associated with higher risk of CP in the presence of maternal smoking. Additional evidence of reduced risk due to G × E interaction in the presence of multivitamin supplementation was observed for SNPs in BAALC on chr. 8. These results emphasize the need to consider G × E interaction when...

  5. Nonsyndromic Synchronous Multifocal Central Giant Cell Granulomas of the Maxillofacial Region: Report of a Case.

    Directory of Open Access Journals (Sweden)

    Anita Munde

    2015-04-01

    Full Text Available Central giant cell granuloma (CGCG is a benign proliferation of fibroblasts and multinucleated giant cells that almost exclusively occurs in the jaws. It commonly occurs in young adults showing a female predilection in the anterior mandible. Multifocal CGCGs in maxillofacial region are very rare and suggestive of systemic diseases such as hyperparathyroidism, an inherited syndrome such as Noonan-like multiple giant cell lesion syndrome or other disorders. Only 10 cases of multifocal CGCGs in the maxillofacial region without any concomitant systemic disease have been reported in the English literature. Here, we report an unusual case of 36 year-old female presented with non-syndromic synchronous, multifocal CGCGs in the left posterior mandible and left posterior maxilla without any concomitant systemic disease. Relevant literature is reviewed and the incidence, clinical features, radiological features, differential diagnosis and management of CGCGs are discussed.

  6. Non-syndromic multiple keratocyst odontogenic tumor: A rare case report

    Directory of Open Access Journals (Sweden)

    Abhijeet Alok

    2015-01-01

    Full Text Available Keratocystic odontogenic tumors (KCOTs are one of the most frequent features of nevoid basal cell carcinoma syndrome (NBCCS. The condition is linked with mutation in the PTCH gene. Partial expression of the gene may result in occurrence of multiple recurring odontogenic keratocysts (OKCs. Although KCOTs are common in clinical practice, simultaneous occurrence of multiple cysts in both the maxilla and mandible of a patient is rare. These patients have early propensity to develop multiple neoplasms like basal cell carcinoma and medulloblastoma. Hence, early diagnosis and treatment is of utmost importance in reducing the severity of the long-term sequelae of NBCCS. We report a rare case of multiple KCOTs in a non-syndromic male patient, with emphasis on its diagnosis, radiographic features, and treatment.

  7. Risk of leukemia in first degree relatives of patients with nonsyndromic cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Eduardo GONÇALVES

    2014-01-01

    Full Text Available The aim of this study was to determine the frequency of leukemia in parents of patients with nonsyndromic cleft lip and/or cleft palate (NSCL/P. This case-control study evaluated first-degree family members of 358 patients with NSCL/P and 1,432 subjects without craniofacial alterations or syndromes. Statistical analysis was carried out using Fisher’s test. From the 358 subjects with NSCL/P, 3 first-degree parents had history of leukemia, while 2 out of 1,432 subjects from the unaffected group had a family history of leukemia. The frequency of positive family history of leukemia was not significantly increased in first-degree relatives of patients with NSCL/P.

  8. Multiple Supernumerary Teeth in a Non-Syndromic Patient: A Case Report

    Directory of Open Access Journals (Sweden)

    Majid Eshgh Pour

    2013-01-01

    Full Text Available Introduction: Multiple supernumerary teeth are a rare phenomenon. It occurs more often in patients with syndromes such as Gardner's syndrome, cleidocranial dysplasia and so on. This phenomenon in absence of such syndromes is rare. The purpose of this report was to introduce a case of non-syndromic multiple supernumerary impacted teeth.Case Report: A 29-year-old woman with no skeletal, metabolic, systemic and mental disorder was referred to oral and maxillofacial department of Mashhad dental school. In clinical evaluation, seven Permanent teeth were missing. In radiographic evaluation, there were a total of 15 impacted teeth which 7 of them were supernumerary.Conclusion: Missing or Excess of one or more teeth usually leads to occlusal and functional problems. In these cases, a complete clinical and radiographic examination accompanieal by a precise history should be performed to plan a suitable surgical-orthodontic-prosthetic treatment.

  9. Localization of A Novel Autosomal Recessive Non-Syndromic Hearing Impairment Locus (DFNB38) to 6q26–q27 in a Consanguineous Kindred from Pakistan

    OpenAIRE

    Ansar, Muhammad; Ramzan, Mohammad; Pham, Thanh L.; Yan, Kai; Jamal, Syed Muhammad; Haque, Sayedul; Ahmad, Wasim; Leal, Suzanne M.

    2003-01-01

    For autosomal recessive nonsyndromic hearing impairment over 30 loci have been mapped and 19 genes have been identified. DFNB38, a novel locus for autosomal recessive nonsyndromic hearing impairment, was localized in a consanguineous Pakistani kindred to 6q26–q27. The affected family members present with profound prelingual sensorineural hearing impairment and use sign language for communications. Linkage was established to microsatellite markers located on chromosome 6q26–q27 (Multipoint lod...

  10. The role of music in deaf culture: deaf students' perception of emotion in music.

    Science.gov (United States)

    Darrow, Alice-Ann

    2006-01-01

    Although emotional interpretation of music is an individual and variable experience, researchers have found that typical listeners are quite consistent in associating basic or primary emotions such as happiness, sadness, fear, and anger to musical compositions. It has been suggested that an individual with a sensorineural hearing loss, or any lesion in auditory perceptors in the brain may have trouble perceiving music emotionally. The purpose of the present study was to investigate whether students with a hearing loss who associate with the deaf culture, assign the same emotions to music as students without a hearing loss. Sixty-two elementary and junior high students at a Midwestern state school for the deaf and students at neighboring elementary and junior high schools served as participants. Participants at the state school for the deaf had hearing losses ranging from moderate to severe. Twelve film score excerpts, composed to depict the primary emotions-happiness, sadness, and fear, were used as the musical stimuli. Participants were asked to assign an emotion to each excerpt. Results indicated a significant difference between the Deaf and typical hearing participants' responses, with hearing participants' responses more in agreement with the composers' intent. No significant differences were found for age or gender. Analyses of the Deaf participants' responses indicate that timbre, texture, and rhythm are perhaps the musical elements most influential in transmitting emotion to persons with a hearing loss. Adaptive strategies are suggested for assisting children who are deaf in accessing the elements of music intended to portray emotion.

  11. Initial Treatment for Nonsyndromic Early-Life Epilepsy: An Unexpected Consensus.

    Science.gov (United States)

    Shellhaas, Renée A; Berg, Anne T; Grinspan, Zachary M; Wusthoff, Courtney J; Millichap, John J; Loddenkemper, Tobias; Coryell, Jason; Saneto, Russell P; Chu, Catherine J; Joshi, Sucheta M; Sullivan, Joseph E; Knupp, Kelly G; Kossoff, Eric H; Keator, Cynthia; Wirrell, Elaine C; Mytinger, John R; Valencia, Ignacio; Massey, Shavonne; Gaillard, William D

    2017-10-01

    There are no evidence-based guidelines on the preferred approach to treating early-life epilepsy. We examined initial therapy selection in a contemporary US cohort of children with newly diagnosed, nonsyndromic, early-life epilepsy (onset before age three years). Seventeen pediatric epilepsy centers participated in a prospective cohort study of children with newly diagnosed epilepsy with onset under 36 months of age. Details regarding demographics, seizure types, and initial medication selections were obtained from medical records. About half of the 495 enrolled children with new-onset, nonsyndromic epilepsy were less than 12 months old at the time of diagnosis (n = 263, 53%) and about half (n = 260, 52%) had epilepsy with focal features. Of 464 who were treated with monotherapy, 95% received one of five drugs: levetiracetam (n = 291, 63%), oxcarbazepine (n = 67, 14%), phenobarbital (n = 57, 12%), topiramate (n = 16, 3.4%), and zonisamide (n = 13, 2.8%). Phenobarbital was prescribed first for 50 of 163 (31%) infants less than six months old versus seven of 300 (2.3%) of children six months or older (P epilepsy presentation (focal, generalized, mixed/uncertain). Between the first and second treatment choices, 367 (74%) of children received levetiracetam within the first year after diagnosis. Without any specific effort, the pediatric epilepsy community has developed an unexpectedly consistent approach to initial treatment selection for early-life epilepsy. This suggests that a standard practice is emerging and could be utilized as a widely acceptable basis of comparison in future drug studies. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.

    Science.gov (United States)

    Nguyen, Thanh-Minh T; Hull, Sarah; Roepman, Ronald; van den Born, L Ingeborgh; Oud, Machteld M; de Vrieze, Erik; Hetterschijt, Lisette; Letteboer, Stef J F; van Beersum, Sylvia E C; Blokland, Ellen A; Yntema, Helger G; Cremers, Frans P M; van der Zwaag, Paul A; Arno, Gavin; van Wijk, Erwin; Webster, Andrew R; Haer-Wigman, Lonneke

    2017-09-01

    Recent findings suggesting that Abelson helper integration site 1 ( AHI1 ) is involved in non-syndromic retinal disease have been debated, as the functional significance of identified missense variants was uncertain. We assessed whether AHI1 variants cause non-syndromic retinitis pigmentosa (RP). Exome sequencing was performed in three probands with RP. The effects of the identified missense variants in AHI1 were predicted by three-dimensional structure homology modelling. Ciliary parameters were evaluated in patient's fibroblasts, and recombinant mutant proteins were expressed in ciliated retinal pigmented epithelium cells. In the three patients with RP, three sets of compound heterozygous variants were detected in AHI1 (c.2174G>A; p.Trp725* and c.2258A>T; p.Asp753Val, c.660delC; p.Ser221Glnfs*10 and c.2090C>T; p.Pro697Leu, c.2087A>G; p.His696Arg and c.2429C>T; p.Pro810Leu). All four missense variants were present in the conserved WD40 domain of Jouberin, the ciliary protein encoded by AHI1 , with variable predicted implications for the domain structure. No significant changes in the percentage of ciliated cells, nor in cilium length or intraflagellar transport were detected. However, expression of mutant recombinant Jouberin in ciliated cells showed a significantly decreased enrichment at the ciliary base. This report confirms that mutations in AHI1 can underlie autosomal recessive RP. Moreover, it structurally and functionally validates the effect of the RP-associated AHI1 variants on protein function, thus proposing a new genotype-phenotype correlation for AHI1 mutation associated retinal ciliopathies. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  13. Protein implicated in nonsyndromic mental retardation regulates protein kinase A (PKA) activity

    KAUST Repository

    Altawashi, Azza

    2012-02-28

    Mutation of the coiled-coil and C2 domain-containing 1A (CC2D1A) gene, which encodes a C2 domain and DM14 domain-containing protein, has been linked to severe autosomal recessive nonsyndromic mental retardation. Using a mouse model that produces a truncated form of CC2D1A that lacks the C2 domain and three of the four DM14 domains, we show that CC2D1A is important for neuronal differentiation and brain development. CC2D1A mutant neurons are hypersensitive to stress and have a reduced capacitytoformdendritesandsynapsesinculture. Atthebiochemical level,CC2D1Atransduces signals to the cyclic adenosine 3?,5?-monophosphate (cAMP)-protein kinase A (PKA) pathway during neuronal cell differentiation. PKA activity is compromised, and the translocation of its catalytic subunit to the nucleus is also defective in CC2D1A mutant cells. Consistently, phosphorylation of the PKA target cAMP-responsive element-binding protein, at serine 133, is nearly abolished in CC2D1A mutant cells. The defects in cAMP/PKA signaling were observed in fibroblast, macrophage, and neuronal primary cells derived from the CC2D1A KO mice. CC2D1A associates with the cAMP-PKA complex following forskolin treatment and accumulates in vesicles or on the plasma membrane in wild-type cells, suggesting that CC2D1A may recruit the PKA complex to the membrane to facilitate signal transduction. Together, our data show that CC2D1A is an important regulator of the cAMP/PKA signaling pathway, which may be the underlying cause for impaired mental function in nonsyndromic mental retardation patients with CC2D1A mutation. 2012 by The American Society for Biochemistry and Molecular Biology, Inc.

  14. A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.

    Science.gov (United States)

    Cesca, Federica; Bettella, Elisa; Polli, Roberta; Cama, Elona; Scimemi, Pietro; Santarelli, Rosamaria; Murgia, Alessandra

    2018-01-01

    This work was aimed at establishing the molecular etiology of hearing loss in a 9-year old girl with post-lingual non-syndromic mild sensorineural hearing loss with a complex family history of clinically heterogeneous deafness. The proband's DNA was subjected to NGS analysis of a 59-targeted gene panel, with the use of the Ion Torrent PGM platform. Conventional Sanger sequencing was used for segregation analysis in all the affected relatives. The proband and all the other hearing impaired members of the family underwent a thorough clinical and audiological evaluation. A new likely pathogenic mutation in the EYA4 gene (c.1154C > T; p.Ser385Leu) was identified in the proband and in her 42-year-old father with post-lingual non-syndromic profound sensorineural hearing loss. The EYA4 mutation was also found in the proband's grandfather and uncle, both showing clinical features of Waardenburg syndrome type 1. A novel pathogenic splice-site mutation (c.321+1G > A) of the PAX3 gene was found to co-segregate with the EYA4 mutation in these two subjects. The identified novel EYA4 mutation can be considered responsible of the hearing loss observed in the proband and her father, while a dual molecular diagnosis was reached in the relatives co-segregating the EYA4 and the PAX3 mutations. In these two subjects the DFNA10 phenotype was masked by Waardenburg syndrome. The use of NGS targeted gene-panel, in combination with an extensive clinical and audiological examination led us to identify the genetic cause of the hearing loss in members of a family in which different forms of autosomal dominant deafness segregate. These results provide precise and especially important prognostic and follow-up information for the future audiologic management in the youngest affected member. Copyright © 2017 Elsevier B.V. All rights reserved.

  15. Genetics Home Reference: palmoplantar keratoderma with deafness

    Science.gov (United States)

    ... Melegh B. Phenotypic variants of the deafness-associated mitochondrial DNA A7445G mutation. Curr Med Chem. 2008;15(13):1257-62. Review. Citation on PubMed Xu J, Nicholson BJ. The role of connexins in ear and skin physiology - functional insights from disease-associated mutations. Biochim Biophys ...

  16. Visual perceptual load induces inattentional deafness.

    Science.gov (United States)

    Macdonald, James S P; Lavie, Nilli

    2011-08-01

    In this article, we establish a new phenomenon of "inattentional deafness" and highlight the level of load on visual attention as a critical determinant of this phenomenon. In three experiments, we modified an inattentional blindness paradigm to assess inattentional deafness. Participants made either a low- or high-load visual discrimination concerning a cross shape (respectively, a discrimination of line color or of line length with a subtle length difference). A brief pure tone was presented simultaneously with the visual task display on a final trial. Failures to notice the presence of this tone (i.e., inattentional deafness) reached a rate of 79% in the high-visual-load condition, significantly more than in the low-load condition. These findings establish the phenomenon of inattentional deafness under visual load, thereby extending the load theory of attention (e.g., Lavie, Journal of Experimental Psychology. Human Perception and Performance, 25, 596-616, 1995) to address the cross-modal effects of visual perceptual load.

  17. Alexander Graham Bell: Teacher of the Deaf.

    Science.gov (United States)

    Bruce, Robert V.

    The lecture on Alexander Graham Bell by Dr. Robert V. Bruce, the author of a biography of Bell, focuses on Bell's association with the Clarke School for the Deaf in Massachusetts. Noted are Bell's employment by the school at 25 years of age and the preceding period during which Bell taught elocution at a boys' school in Scotland and used his…

  18. ATM: Restructing Learning for Deaf Students.

    Science.gov (United States)

    Keefe, Barbara; Stockford, David

    Governor Baxter School for the Deaf is one of six Maine pilot sites chosen by NYNEX to showcase asynchronous transfer mode (ATM) technology. ATM is a network connection that allows high bandwidth transmission of data, voice, and video. Its high speed capability allows for high quality two-way full-motion video, which is especially beneficial to a…

  19. Health Care Access among Deaf People

    Science.gov (United States)

    Kuenburg, Alexa; Fellinger, Paul; Fellinger, Johannes

    2016-01-01

    Access to health care without barriers is a clearly defined right of people with disabilities as stated by the UN Convention on the Rights of People with Disabilities. The present study reviews literature from 2000 to 2015 on access to health care for deaf people and reveals significant challenges in communication with health providers and gaps in…

  20. Memory and Metamemory in Deaf Students.

    Science.gov (United States)

    Fung Tsui, Hing; Rodda, Michael

    1990-01-01

    Memory and metamemory abilities of 24 severely to profoundly deaf students between the ages of 9 and 20 years old were studied. Results did not suggest spatial bias in encoding. Semantic knowledge was correlated with metamemory and free recall, and rehearsal mechanisms correlated with temporal position recall and paired-associate nonprototypic…

  1. Developmental Social Cognitive Neuroscience: Insights from Deafness

    Science.gov (United States)

    Corina, David; Singleton, Jenny

    2009-01-01

    The condition of deafness presents a developmental context that provides insight into the biological, cultural, and linguistic factors underlying the development of neural systems that impact social cognition. Studies of visual attention, behavioral regulation, language development, and face and human action perception are discussed. Visually…

  2. International Deaf Education Teacher-Training Projects.

    Science.gov (United States)

    Moulton, Robert; Chinn, Kathleen

    2002-01-01

    This article discusses the need and challenges of developing nations regarding audiological and educational services for children who are deaf or hard-of-hearing. Stellar international programs are described. Availability and use of current computer technology is discussed and suggestions are made for international projects in audiology and deaf…

  3. Antenatal Bartter's syndrome with sensorineural deafness

    OpenAIRE

    Bhamkar, R. P.; Gajendragadkar, A.

    2009-01-01

    Bartter's syndrome is a group of inherited, salt-losing tubulopathies presenting as metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism. We report here the first case of a neonate with bilateral, sensorineural deafness, a variant of antenatal Bartter's syndrome from an Indian community.

  4. Deaf Children's Bimodal Bilingualism and Education

    Science.gov (United States)

    Swanwick, Ruth

    2016-01-01

    This paper provides an overview of the research into deaf children's bilingualism and bilingual education through a synthesis of studies published over the last 15 years. This review brings together the linguistic and pedagogical work on bimodal bilingualism to inform educational practice. The first section of the review provides a synthesis of…

  5. Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.

    Science.gov (United States)

    Hildebrand, Michael S; de Silva, Michelle G; Tan, Tiong Yang; Rose, Elizabeth; Nishimura, Carla; Tolmachova, Tanya; Hulett, Joanne M; White, Susan M; Silver, Jeremy; Bahlo, Melanie; Smith, Richard J H; Dahl, Hans-Henrik M

    2007-11-01

    X-linked syndromes associated with developmental delay and sensorineural hearing loss (SNHL) have been characterized at the molecular level, including Mohr-Tranebjaerg syndrome and Norrie disease. In this study we report on a novel X-linked recessive, congenital syndrome in a family with developmental delay and SNHL that maps to a locus associated with mental retardation (MR) for which no causative gene has been identified. The X-linked recessive inheritance and congenital nature of the syndrome was confirmed by detailed clinical investigation and the family history. Linkage mapping of the X-chromosome was conducted to ascertain the disease locus and candidate genes were screened by direct sequencing and STRP analysis. The recessive syndrome was mapped to Xp11.3-q21.32 and a deletion was identified in a regulatory region upstream of the POU3F4 gene in affected family members. Since mutations in POU3F4 cause deafness at the DFN3 locus, the deletion is the likely cause of the SNHL in this family. The choroideremia (CHM) gene was also screened and a novel missense change was identified. The alteration changes the serine residue at position 89 in the Rab escort 1 protein (REP-1) to a cysteine (S89C). Prenylation of Rab proteins was investigated in patients and the location of REP-1 expression in the brain determined. However, subsequent analysis revealed that this change in CHM was polymorphic having no effect on REP-1 function. Although the causative gene at the MR locus in this family has not been identified, there are a number of genes involved in syndromic and nonsyndromic forms of MR that are potential candidates. Copyright 2007 Wiley-Liss, Inc.

  6. Complex word reading in Dutch deaf children and adults.

    Science.gov (United States)

    van Hoogmoed, Anne H; Knoors, Harry; Schreuder, Robert; Verhoeven, Ludo

    2013-03-01

    Children who are deaf are often delayed in reading comprehension. This delay could be due to problems in morphological processing during word reading. In this study, we investigated whether 6th grade deaf children and adults are delayed in comparison to their hearing peers in reading complex derivational words and compounds compared to monomorphemic words. The results show that deaf children are delayed in reading both derivational words and compounds as compared to hearing children, while both deaf and hearing adults performed equally well on a lexical decision task. However, deaf adults generally showed slower reaction times than hearing adults. For both deaf and hearing children, derivational words were more difficult than compounds, as reflected in hearing children's slower reaction times and in deaf children's lower accuracy scores. This finding likely reflects deaf children's lack of familiarity with the meaning of the bound morphemes attached to the stems in derivational words. Therefore, it might be beneficial to teach deaf children the meaning of bound morphemes and to train them to use morphology in word reading. Moreover, these findings imply that it is important to focus on both monomorphemic and polymorphemic words when assessing word reading ability in deaf children. Copyright © 2012 Elsevier Ltd. All rights reserved.

  7. Neural networks mediating sentence reading in the deaf

    Directory of Open Access Journals (Sweden)

    Elizabeth Ann Hirshorn

    2014-06-01

    Full Text Available The present work addresses the neural bases of sentence reading in deaf populations. To better understand the relative role of deafness and English knowledge in shaping the neural networks that mediate sentence reading, three populations with different degrees of English knowledge and depth of hearing loss were included – deaf signers, oral deaf and hearing individuals. The three groups were matched for reading comprehension and scanned while reading sentences. A similar neural network of left perisylvian areas was observed, supporting the view of a shared network of areas for reading despite differences in hearing and English knowledge. However, differences were observed, in particular in the auditory cortex, with deaf signers and oral deaf showing greatest bilateral superior temporal gyrus (STG recruitment as compared to hearing individuals. Importantly, within deaf individuals, the same STG area in the left hemisphere showed greater recruitment as hearing loss increased. To further understand the functional role of such auditory cortex re-organization after deafness, connectivity analyses were performed from the STG regions identified above. Connectivity from the left STG toward areas typically associated with semantic processing (BA45 and thalami was greater in deaf signers and in oral deaf as compared to hearing. In contrast, connectivity from left STG toward areas identified with speech-based processing was greater in hearing and in oral deaf as compared to deaf signers. These results support the growing literature indicating recruitment of auditory areas after congenital deafness for visually-mediated language functions, and establish that both auditory deprivation and language experience shape its functional reorganization. Implications for differential reliance on semantic vs. phonological pathways during reading in the three groups is discussed.

  8. Sexual health behaviors of Deaf American Sign Language (ASL) users.

    Science.gov (United States)

    Heiman, Erica; Haynes, Sharon; McKee, Michael

    2015-10-01

    Little is known about the sexual health behaviors of Deaf American Sign Language (ASL) users. We sought to characterize the self-reported sexual behaviors of Deaf individuals. Responses from 282 Deaf participants aged 18-64 from the greater Rochester, NY area who participated in the 2008 Deaf Health were analyzed. These data were compared with weighted data from a general population comparison group (N = 1890). We looked at four sexual health-related outcomes: abstinence within the past year; number of sexual partners within the last year; condom use at last intercourse; and ever tested for HIV. We performed descriptive analyses, including stratification by gender, age, income, marital status, and educational level. Deaf respondents were more likely than the general population respondents to self-report two or more sexual partners in the past year (30.9% vs 10.1%) but self-reported higher condom use at last intercourse (28.0% vs 19.8%). HIV testing rates were similar between groups (47.5% vs 49.4%) but lower for certain Deaf groups: Deaf women (46.0% vs 58.1%), lower-income Deaf (44.4% vs 69.7%) and among less educated Deaf (31.3% vs 57.7%) than among respondents from corresponding general population groups. Deaf respondents self-reported higher numbers of sexual partners over the past year compared to the general population. Condom use was higher among Deaf participants. HIV was similar between groups, though HIV testing was significantly lower among lower income, less well-educated, and female Deaf respondents. Deaf individuals have a sexual health risk profile that is distinct from that of the general population. Copyright © 2015 Elsevier Inc. All rights reserved.

  9. Sexual Health Behaviors of Deaf American Sign Language (ASL) Users

    Science.gov (United States)

    Heiman, Erica; Haynes, Sharon; McKee, Michael

    2015-01-01

    Background Little is known about the sexual health behaviors of Deaf American Sign Language (ASL) users. Objective We sought to characterize the self-reported sexual behaviors of Deaf individuals. Methods Responses from 282 Deaf participants aged 18–64 from the greater Rochester, NY area who participated in the 2008 Deaf Health were analyzed. These data were compared with weighted data from a general population comparison group (N=1890). We looked at four sexual health-related outcomes: abstinence within the past year; number of sexual partners within the last year; condom use at last intercourse; and ever tested for HIV. We performed descriptive analyses, including stratification by gender, age, income, marital status, and educational level. Results Deaf respondents were more likely than the general population respondents to self-report two or more sexual partners in the past year (30.9% vs 10.1%) but self-reported higher condom use at last intercourse (28.0% vs 19.8%). HIV testing rates were similar between groups (47.5% vs 49.4%) but lower for certain Deaf groups: Deaf women (46.0% vs. 58.1%), lower-income Deaf (44.4% vs. 69.7%) and among less educated Deaf (31.3% vs. 57.7%) than among respondents from corresponding general population groups. Conclusion Deaf respondents self-reported higher numbers of sexual partners over the past year compared to the general population. Condom use was higher among Deaf participants. HIV was similar between groups, though HIV testing was significantly lower among lower-income, less well-educated, and female Deaf respondents. Deaf individuals have a sexual health risk profile that is distinct from that of the general population. PMID:26242551

  10. Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

    Directory of Open Access Journals (Sweden)

    Amina Bakhchane

    Full Text Available The MYO7A gene encodes a protein belonging to the unconventional myosin super family. Mutations within MYO7A can lead to either non syndromic hearing loss or to the Usher syndrome type 1B (USH1B. Here, we report the results of genetic analyses performed on Moroccan families with autosomal recessive non syndromic hearing loss that identified two families with compound heterozygous MYO7A mutations. Five mutations (c.6025delG, c.6229T>A, c.3500T>A, c.5617C>T and c.4487C>A were identified in these families, the latter presenting two differently affected branches. Multiple bioinformatics programs and molecular modelling predicted the pathogenic effect of these mutations. In conclusion, the absence of vestibular and retinal symptom in the affected patients suggests that these families have the isolated non-syndromic hearing loss DFNB2 (nonsyndromic autosomal recessive hearing loss presentation, instead of USH1B.

  11. Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family.

    Science.gov (United States)

    Niepokój, Katarzyna; Rygiel, Agnieszka M; Jurczak, Piotr; Kujko, Aleksandra A; Śniegórska, Dominika; Sawicka, Justyna; Grabarczyk, Alicja; Bal, Jerzy; Wertheim-Tysarowska, Katarzyna

    2018-02-01

    Usher syndrome is rare genetic disorder impairing two human senses, hearing and vision, with the characteristic late onset of vision loss. This syndrome is divided into three types. In all cases, the vision loss is postlingual, while loss of hearing is usually prelingual. The vestibular functions may also be disturbed in Usher type 1 and sometimes in type 3. Vestibular areflexia is helpful in making a proper diagnosis of the syndrome, but, often, the syndrome is misdiagnosed as a nonsyndromic hearing loss. Here, we present a Polish family with hearing loss, which was clinically classified as nonsyndromic. After excluding mutations in the DFNB1 locus, we implemented the next-generation sequencing method and revealed that hearing loss was syndromic and mutations in the USH2A gene indicate Usher syndrome. This research highlights the importance of molecular analysis in establishing a clinical diagnosis of congenital hearing loss.

  12. Deaf Mothers and Breastfeeding: Do Unique Features of Deaf Culture and Language Support Breastfeeding Success?

    Science.gov (United States)

    Chin, Nancy P.; Cuculick, Jess; Starr, Matthew; Panko, Tiffany; Widanka, Holly; Dozier, Ann

    2014-01-01

    Background Deaf mothers who use American Sign Language (ASL) consider themselves a linguistic minority group, with specific cultural practices. Rarely has this group been engaged in infant-feeding research. Objectives To understand how ASL-using Deaf mothers learn about infant feeding and to identify their breastfeeding challenges. Methods Using a community-based participatory research (CBPR) approach we conducted four focus groups with Deaf mothers who had at least one child 0–5 years. A script was developed using a social ecological model (SEM) to capture multiple levels of influence. All groups were conducted in ASL, filmed, and transcribed into English. Deaf and hearing researchers analyzed data by coding themes within each SEM level. Results Fifteen mothers participated. All had initiated breastfeeding with their most recent child. Breastfeeding duration for eight of the mothers was three weeks to 12 months. Seven of the mothers were still breastfeeding, the longest for 19 months. Those mothers who breastfed longer described a supportive social environment and the ability to surmount challenges. Participants described characteristics of Deaf culture such as direct communication, sharing information, use of technologies, language access through interpreters and ASL-using providers, and strong self-advocacy skills. Finally, mothers used the sign ‘struggle’ to describe their breastfeeding experience. The sign implies a sustained effort over time which leads to success. Conclusions In a setting with a large population of Deaf women and ASL-using providers, we identified several aspects of Deaf culture and language which support BF mothers across institutional, community, and interpersonal levels of the SEM. PMID:23492762

  13. Cleft characteristics and treatment outcomes in hemifacial microsomia compared to non-syndromic cleft lip/palate.

    Science.gov (United States)

    Dentino, K M; Valstar, A; Padwa, B L

    2016-06-01

    The goal of this study was to describe the clinical characteristics and treatment outcomes of patients with hemifacial microsomia (HFM) and cleft lip/palate (CL/P), and to compare them to a historic cohort of patients with non-syndromic CL/P treated at the same centre. A retrospective review of patients with HFM and CL/P was performed; the main outcome measures assessed were cleft type/side, surgical outcome, midfacial retrusion, and speech. Twenty-six patients (13 male, 13 female; mean age 22.7±14.9, range 1-52 years) with cleft lip with/without cleft palate (CL±P) were identified: three with cleft lip (12%), two with cleft lip and alveolus and an intact secondary palate (8%), and 21 with cleft lip and palate (CLP) (81%; 15 unilateral and six bilateral). Four patients (19%) had a palatal fistula after palatoplasty. Twelve of 22 patients aged >5 years (55%) had midfacial retrusion and two (9%) required a pharyngeal flap for velopharyngeal insufficiency (VPI). Fisher's exact test demonstrated a higher frequency of complete labial clefting (P=0.004), CLP (P=0.009), midfacial retrusion (P=0.0009), and postoperative palatal fistula (P=0.03) in HFM compared to non-syndromic CL±P. There was no difference in VPI prevalence. This study revealed that patients with HFM and CL±P have more severe forms of orofacial clefting than patients with non-syndromic CL±P. Patients with HFM and CL±P have more severe midfacial retrusion and a higher palatal fistula rate compared to patients with non-syndromic CL±P. Copyright © 2015 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  14. Family therapy in treatment of the deaf: a case report.

    Science.gov (United States)

    Shapiro, R J; Harris, R I

    1976-03-01

    Deaf patients with psychological problems have developmental handicaps and clinical characteristics that reduce the effectiveness of traditional modes of psychotherapy. Attempts have been made to utilize individual and group therapy, but family therapy has been largely overlooked as a method of alleviating problems of the deaf. Clinical and research writings provide us with rich insights into the family dynamics of the deaf. These data suggest to the authors that the problems of deaf individuals are largely related to family problems, and therefore merit a family orientation as the focus for treatment. This paper describes an attempt to apply family therapy with a range of deaf patients over a period of two years. From a review of their work, the authors conclude that family therapy can be effective, particularly in the treatment of deaf adolescents and children.

  15. Representations of deaf characters in children's picture books.

    Science.gov (United States)

    Golos, Debbie B; Moses, Annie M

    2011-01-01

    Picture books can influence how children perceive people of different backgrounds, including people with disabilities whose cultures differ from their own. Researchers have examined the portrayal of multicultural characters with disabilities in children's literature. However, few have specifically considered the portrayal of deaf characters, despite increased inclusion of deaf characters in children's literature over the past two decades. The present study analyzed the portrayal of deaf characters in picture books for children ages 4-8 years. A content analysis of 20 children's picture books was conducted in which the books were analyzed for messages linked to pathological and cultural categories. Results indicated that these books did not portray Deaf characters from a cultural perspective but, rather, highlighted aspects of deafness as a medical condition, one that requires fixing and that perpetuates stereotypes of deafness as a disability.

  16. Factors impacting participation of European elite deaf athletes in sport.

    Science.gov (United States)

    Kurková, Petra; Válková, Hana; Scheetz, Nanci

    2011-03-01

    This study examine 53 European elite deaf athletes for their family's hearing status, use of hearing aids, communication preference, education in integrated or segregated settings, family members' encouragement for participation in sports, coach preference (hearing or deaf), and conditions for competitive events with deaf or hearing athletes. These data were gathered through semi-structured interviews administered in the athlete's native language. Deaf athletes reported that when given the opportunity to compete with hearing athletes, it enhanced their opportunity for competition. Participating in sports with hearing athletes played an important role in the integration of deaf athletes into mainstream society. If adaptations to communication can be made in these integrated settings, the ability of deaf athletes to participate in such settings will increase.

  17. Understanding Harry Potter: parallels to the deaf world.

    Science.gov (United States)

    Czubek, Todd A; Greenwald, Janey

    2005-01-01

    Every so often there are stories that take the world by storm and make such an impact that they become part of our everyday world. These stories, characters, and themes become established elements of cultural literacy. This is exactly what has happened with J. K. Rowling's Harry Potter series. Harry and his cohort of wizards, witches, and their adventures have become an indispensable part of popular literature and popular culture. We have developed an innovative way to ensure that Deaf children, their families, and anyone studying literature (Deaf or general) gain a deeper understanding of this phenomenon. In fact, we go further by demonstrating how using a Deaf Lens provides the greatest insight into the fascinating world of Harry Potter. Utilizing a Deaf Studies Template and a Deaf Lens, we capitalize on the experiences of Deaf people everywhere while celebrating the valuable role American Sign Language has in academic programming.

  18. Deaf/LGBTQ Intersectional Invisibility in Schools: The Lived Experiences of Deaf Lesbian Students of Color at a School for the Deaf

    Science.gov (United States)

    Dunne, Courtney M.

    2013-01-01

    Historically, American society has had conflicting views on the nature and nurture of Deaf people and Lesbian, Gay, Bisexual, Transgender, Queer (LGBTQ) people. In the context of majority cultures and societies in history, the reality of Deaf and LGBTQ people's lives has often been summarized in general terms such as invisibility and oppression.…

  19. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

    Science.gov (United States)

    Yu, Yongguo; Yao, RuEn; Wang, Lili; Fan, Yanjie; Huang, Xiaodong; Hirschhorn, Joel; Dauber, Andrew; Shen, Yiping

    2015-09-16

    Human height is a complex trait with a strong genetic basis. Recently, a significant association between rare copy number variations (CNVs) and short stature has been identified, and candidate genes in these rare CNVs are being explored. This study aims to evaluate the association between mutations in ARID1B gene and short stature, both the syndromic and non-syndromic form. Based on a case-control study of whole genome chromosome microarray analysis (CMA), three overlapping CNVs were identified in patients with developmental disorders who exhibited short stature. ARID1B, a causal gene for Coffin Siris syndrome, is the only gene encompassed by all three CNVs. A following retrospective genotype-phenotype analysis based on a literature review confirmed that short stature is a frequent feature in those Coffin-Siris syndrome patients with ARID1B mutations. Mutation screening of ARID1B coding regions was further conducted in a cohort of 48 non-syndromic short stature patients,andfour novel missense variants including two de novo mutations were found. These results suggest that haploinsufficient mutations of ARID1B are associated with syndromic short stature including Coffin-Siris syndrome and intellectual disability, while rare missense variants in ARID1B are associated with non-syndromic short stature. This study supports the notion that mutations in genes related to syndromic short stature may exert milder effect and contribute to short stature in the general population.

  20. Comparative study of verbal originality in deaf and hearing children.

    Science.gov (United States)

    Johnson, R A; Khatena, J

    1975-04-01

    Verbal originality scores were obtained from Onomatopoeia and Images, Form 1B, given to 181 deaf and 236 hearing Ss aged 10 to 19 yr. The hearing Ss scored significantly higher than the deaf Ss. Significant main effects for age were found but not for sex. The only significant interaction was found for hearing status and age. Deaf Ss became more productive as age increased, while performance of hearing Ss relative to age fluctuated.

  1. Calendar systems and communication of deaf-blind children

    OpenAIRE

    Jablan Branka; Stanimirov Ksenija

    2012-01-01

    The aim of this paper is to explain the calendar systems and their role in teaching deaf-blind children. Deaf-blind persons belong to a group of multiple disabled persons. This disability should not be observed as a simple composite of visual and hearing impairments, but as a combination of sensory impairments that require special assistance in the development, communication and training for independent living. In our environment, deaf-blind children are being educated in schools for children...

  2. Emergency Department utilization among Deaf American Sign Language users.

    Science.gov (United States)

    McKee, Michael M; Winters, Paul C; Sen, Ananda; Zazove, Philip; Fiscella, Kevin

    2015-10-01

    Deaf American Sign Language (ASL) users comprise a linguistic minority population with poor health care access due to communication barriers and low health literacy. Potentially, these health care barriers could increase Emergency Department (ED) use. To compare ED use between deaf and non-deaf patients. A retrospective cohort from medical records. The sample was derived from 400 randomly selected charts (200 deaf ASL users and 200 hearing English speakers) from an outpatient primary care health center with a high volume of deaf patients. Abstracted data included patient demographics, insurance, health behavior, and ED use in the past 36 months. Deaf patients were more likely to be never smokers and be insured through Medicaid. In an adjusted analysis, deaf individuals were significantly more likely to use the ED (odds ratio [OR], 1.97; 95% confidence interval [CI], 1.11-3.51) over the prior 36 months. Deaf American Sign Language users appear to be at greater odds for elevated ED utilization when compared to the general hearing population. Efforts to further understand the drivers for increased ED utilization among deaf ASL users are much needed. Copyright © 2015 Elsevier Inc. All rights reserved.

  3. Violence against Deaf women: effect of partner hearing status.

    Science.gov (United States)

    Anderson, Melissa L; Kobek Pezzarossi, Caroline M

    2014-07-01

    Using a sample of Deaf female undergraduate students, the current study sought to investigate the prevalence, correlates, and characteristics of intimate partner violence victimization in hearing-Deaf and Deaf-Deaf relationships. Initial results suggest that similarities in hearing status and communication preference are associated with increased levels of negotiation within these relationships. However, compatibility in these areas did not co-occur with significant decreases in physical, psychological, or sexual partner violence. Recommendations for future research as well as implications for clinical and educational practice are outlined. © The Author 2013. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  4. Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.

    Science.gov (United States)

    Sharon, Dror; Banin, Eyal

    2015-01-01

    Nonsyndromic retinitis pigmentosa (RP) is the most common inherited retinal degeneration, and prevalence of the disease has been reported in populations of American and European origin with a relatively low consanguinity rate. Our aim was to determine the prevalence of nonsyndromic RP in the Jerusalem region, which has a population of about 1 million individuals with a high rate of consanguinity. The patients' clinical data included eye exam findings (visual acuity, anterior segment, and funduscopy) as well as electroretinographic (ERG) testing results under scotopic and photopic conditions. Mutation analysis on a subgroup of patients was performed mainly with candidate gene analysis and homozygosity mapping. We evaluated the medical records of patients with degenerative retinal diseases residing in the Jerusalem region who were examined over the past 20 years in a large tertiary medical center. A total of 453 individuals affected with nonsyndromic RP were diagnosed at our center, according to funduscopic findings and ERG testing. Based on the estimated population size of 945,000 individuals who reside in the vicinity of Jerusalem, the prevalence of nonsyndromic RP in this region is 1:2,086. The prevalence of RP was higher among Arab Muslims (1:1,798) compared to Jews (1:2,230), mainly due to consanguineous marriages that are more common in the Arab Muslim population. To identify the genetic causes of RP in our cohort, we recruited 383 patients from 183 different families for genetic analysis: 70 with autosomal recessive (AR) inheritance, 15 with autosomal dominant, 86 isolate cases, and 12 with an X-linked inheritance pattern. In 64 (35%) of the families, we identified the genetic cause of the disease, and we revised the inheritance pattern of 20 isolate cases to the AR pattern; 49% of the families in our cohort had AR inheritance. Interestingly, in 42 (66%) of the genetically identified families, the cause of disease was a founder mutation. Previous studies

  5. A Sign Language Screen Reader for Deaf

    Science.gov (United States)

    El Ghoul, Oussama; Jemni, Mohamed

    Screen reader technology has appeared first to allow blind and people with reading difficulties to use computer and to access to the digital information. Until now, this technology is exploited mainly to help blind community. During our work with deaf people, we noticed that a screen reader can facilitate the manipulation of computers and the reading of textual information. In this paper, we propose a novel screen reader dedicated to deaf. The output of the reader is a visual translation of the text to sign language. The screen reader is composed by two essential modules: the first one is designed to capture the activities of users (mouse and keyboard events). For this purpose, we adopted Microsoft MSAA application programming interfaces. The second module, which is in classical screen readers a text to speech engine (TTS), is replaced by a novel text to sign (TTSign) engine. This module converts text into sign language animation based on avatar technology.

  6. THE DEAF PERSON INCLUSION OF HIGHER EDUCATION

    OpenAIRE

    Rose Mery Gómez Tovar

    2013-01-01

    The research that is presented in this study is based on my experience with deaf students from the Psicology and therapist faculty of human communication which is an academic unit from the Juarez University of the Durango state. This article compiles and analyzes the process of inclusive and educational settings that the institution has.  This study is executed from the adoption of the analysis model of the biographic narrative investigation seen from the cualitative paradigm. In this project...

  7. Magnetic resonance imaging in sudden deafness

    International Nuclear Information System (INIS)

    Ramos, Hugo Valter Lisboa; Barros, Flavia Alencar; Penido, Norma de Oliveira; Souza, Ana Claudia Valerio de; Yamaoka, Wellington Yugo; Yamashita, Helio

    2005-01-01

    The etiology of sudden deafness can remain undetermined despite extensive investigation. This study addresses the value of magnetic resonance imaging in the analysis of sudden deafness patients.Study Design: transversal cohort.Material And Method: In a prospective study, 49 patients attended at otolaryngology emergency room of Federal University of Sao Paulo - Escola Paulista de Medicina, from April 2001 to May 2003, were submitted to magnetic resonance imaging.Results: Magnetic Resonance abnormalities were seen in 23 (46.9%) patients and revealed two tumors suggestive of meningioma, three vestibular schwannomas, thirteen microangiopathic changes of the brain and five (21.7%) pathological conditions of the labyrinth.Conclusion: Sudden deafness should be approached as a symptom common to different diseases. The presence of cerebellopontine angle tumors in 10.2% of our cases, among other treatable causes, justifies the recommendation of gadolinium-enhanced magnetic resonance use, not only to study the auditory peripheral pathway, but to study the whole auditory pathway including the brain. (author)

  8. Signal processing for the profoundly deaf.

    Science.gov (United States)

    Boothyroyd, A

    1990-01-01

    Profound deafness, defined here as a hearing loss in excess of 90 dB, is characterized by high thresholds, reduced hearing range in the intensity and frequency domains, and poor resolution in the frequency and time domains. The high thresholds call for hearing aids with unusually high gains or remote microphones that can be placed close to the signal source. The former option creates acoustic feedback problems for which digital signal processing may yet offer solutions. The latter option calls for carrier wave technology that is already available. The reduced frequency and intensity ranges would appear to call for frequency and/or amplitude compression. It might also be argued, however, that any attempts to compress the acoustic signal into the limited hearing range of the profoundly deaf will be counterproductive because of poor frequency and time resolution, especially when the signal is present in noise. In experiments with a 2-channel compression system, only 1 of 9 subjects showed an improvement of perception with the introduction of fast-release (20 ms) compression. The other 8 experienced no benefit or a slight deterioration of performance. These results support the concept of providing the profoundly deaf with simpler, rather than more complex, patterns, perhaps through the use of feature extraction hearing aids. Data from users of cochlear implants already employing feature extraction techniques also support this concept.

  9. Finding new genes for non-syndromic hearing loss through an in silico prioritization study.

    Directory of Open Access Journals (Sweden)

    Matteo Accetturo

    Full Text Available At present, 51 genes are already known to be responsible for Non-Syndromic hereditary Hearing Loss (NSHL, but the knowledge of 121 NSHL-linked chromosomal regions brings to the hypothesis that a number of disease genes have still to be uncovered. To help scientists to find new NSHL genes, we built a gene-scoring system, integrating Gene Ontology, NCBI Gene and Map Viewer databases, which prioritizes the candidate genes according to their probability to cause NSHL. We defined a set of candidates and measured their functional similarity with respect to the disease gene set, computing a score ( S S M avg that relies on the assumption that functionally related genes might contribute to the same (disease phenotype. A Kolmogorov-Smirnov test, comparing the pair-wise distribution on the disease gene set with the distribution on the remaining human genes, provided a statistical assessment of this assumption. We found at a p-value 0.99. The twenty top-scored genes were finally examined to evaluate their possible involvement in NSHL. We found that half of them are known to be expressed in human inner ear or cochlea and are mainly involved in remodeling and organization of actin formation and maintenance of the cilia and the endocochlear potential. These findings strongly indicate that our metric was able to suggest excellent NSHL candidates to be screened in patients and controls for causative mutations.

  10. MSX ₁ gene variant and non-syndromic clefting: association or rejection?

    Science.gov (United States)

    Reddy, Naveen Admala; Gopinath, Adusumilli; Reddy, Jayaprakash Thirumala; Devanna, Raghu; Saravanan, Pichai; Rohra, Mayur G

    2014-01-01

    Non-syndromic cleft lip/palate (NSCL/P) is a congenital anomaly with significant medical, psychological and social ramifications. There is sufficient evidence to hypothesize that locus for this condition can be identified by candidate genes. The aim of this study is to amplify the chosen region (799 G >T) of MSX 1 gene, investigate the degree of association and perform a mutation research from Raichur cleft lip and palate patient sample. Case history and clinical examination of the patient were recorded to rule. Written consent was obtained from patients and controls for in vivo study. STUDY WAS DESIGNED IN FOUR STEPS AS FOLLOWS: a. Collection of a blood sample; b. Genomic deoxyribonucleic acid (DNA) extraction; c. Polymerase chain reaction (PCR); d. Restriction fragment length polymorphism (RFLP). Blood samples were collected from 50 subjects having NSCL/P and 50 controls. Genomic DNA was extracted, PCR and RFLP was performed for digestion products that were evaluated. Chi-square test with P value at 95% confidence intervals. The results showed a positive correlation between MSX 1 799 G >T gene variant and NSCL/P patients in Raichur patients. From a genetically diverse etiology MSX 1 799 G >T gene variant may be a good screening marker for NSCL/P in Raichur patients.

  11. Nonsyndromic cleft lip and palate: Evidence of linkage to a microsatellite marker on 6p23

    Energy Technology Data Exchange (ETDEWEB)

    Carinci, F.; Pezzetti, F.; Scapoli, L.; Padula, E.; Baciliero, U.; Curioni, C.; Tognon, M.

    1995-01-01

    Nonsydromic cleft lip with or without secondary clefting of the palate (CL+/{minus}P) is one of the most common birth defects. A previous linkage study concerning CL+/{minus}P and cleft palate (CP) families indicated chromosome 6p, near F13A locus, as a possible region for the presence of a clefting gene. More recently, another linkage study performed on a sample of 12 families with nonsyndromic CL+/{minus}P seemed to exclude this association. To test the hypothesis on the possible presence of a major gene on chromosome 6p, we carried out a study on a large sample (21) of CL+/{minus}P families from northeastern Italy. In conclusion, our investigation can be summarized as follows: (i) CL+/{minus}P disease appears to be heterogeneous; (ii) {approximately}66% of the pedigrees showed an autosomal dominant inheritance with incomplete penetrance; and (iii) CL+/{minus}P locus maps on 6p23 very close to or at the microsatellite marker D6S89. To verify whether the D6S89 is the closest marker to the CL+/{minus}P locus, additional examinations with new markers are underway. 19 refs., 1 fig., 1 tab.

  12. Spelling Processes of Children With Nonsyndromic Cleft Lip and/or Palate: A Preliminary Study.

    Science.gov (United States)

    Lee, Karen Shi Mei; Young, Selena Ee-Li; Liow, Susan Jane Rickard; Purcell, Alison Anne

    2015-01-01

    Objective :  To compare the cognitive-linguistic processes underlying spelling performance of children with cleft lip and/or palate with those of typically developing children. Design :  An assessment battery including tests of hearing, articulation, verbal short-term and working memory, and phonological awareness, as well as word and nonword spelling, was administered to both groups. Participants :  A total of 15 children with nonsyndromic cleft lip and/or palate were case-matched by age and sex to 15 typically developing children. The children were aged between 6 and 8 years and were bilingual, with English the dominant language. Results :  Wilcoxon signed-rank tests revealed that the performance of children with cleft lip and/or palate was significantly poorer on phoneme deletion and nonword spelling (P spelling measures for the cleft lip and/or palate and typically developing groups. Conclusions :  Children with cleft lip and/or palate underachieve in phonological awareness and spelling skills. To facilitate early intervention for literacy problems, speech-language pathologists should routinely assess the cognitive-linguistic processing of children with cleft lip and/or palate, especially phonological awareness, as part of their case management protocols.

  13. Variations in NPHP5 in Patients With Nonsyndromic Leber Congenital Amaurosis and Senior-Loken Syndrome

    Science.gov (United States)

    Stone, Edwin M.; Cideciyan, Artur V.; Aleman, Tomas S.; Scheetz, Todd E.; Sumaroka, Alexander; Ehlinger, Mary A.; Schwartz, Sharon B.; Fishman, Gerald A.; Traboulsi, Elias I.; Lam, Byron L.; Fulton, Anne B.; Mullins, Robert F.; Sheffield, Val C.; Jacobson, Samuel G.

    2014-01-01

    Objective To investigate whether mutations in NPHP5 can cause Leber congenital amaurosis (LCA) without early-onset renal disease. Methods DNA samples from 276 individuals with non-syndromic LCA were screened for variations in the NPHP5 gene. Each had been previously screened for mutations in 8 known LCA genes without identifying a disease-causing genotype. Results Nine of the 276 LCA probands (3.2%) harbored 2 plausible disease-causing mutations (7 different alleles) in NPHP5. Four of these have been previously reported in patients with Senior-Loken syndrome (F141del, R461X, H506del, and R489X) and 3 are novel (A111del, E346X, and R455X). All 9 patients had severe visual loss from early childhood but none had overt renal disease in the first decade of life. Two patients were diagnosed with nephronophthisis in the second decade. Retinal imaging studies showed retained photoreceptor nuclei and retinal pigment epithelium integrity mainly in the cone-rich central retina, a phenotype with strong similarities to that of NPHP6 disease. Conclusions Mutations in NPHP5 can cause LCA without early-onset renal disease. Abnormalities observed in the photoreceptor outer segments (a cilial structure) may explain the severe visual loss in NPHP5-associated LCA. Clinical Relevance The persistence of central photoreceptor nuclei despite severe visual loss in NPHP5 disease is encouraging for future therapeutic interventions. PMID:21220633

  14. [Progress in studies on the genetic risk factors for nonsyndromic cleft lip or palate in China].

    Science.gov (United States)

    Huang, Y Q

    2017-04-09

    Cleft lip and palate is the most common congenital defects of oral and maxillofacial region in human beings. The etiology of this malformation is complex, with both genetic and environmental causal factors are involved. To provide a better understanding in the genetic etiology of cleft lip or palate, the author summarized recent years studies based on Chinese population. Those researches included validation of some candidate genes for cleft lip or palate, using genome wide association analysis which included six independent cohorts from China to elucidate the genetic architecture of non-syndromic cleft lip with or without cleft palate in Chinese population and finally found a new susceptibility locus. This locus was on the 16p13.3 (rs8049367) between CREBBP and ADCY9. It has been mentioned common methods of genetic analysis involved in the researches on cleft lip or palate in this paper. Furthermore, we try to discuss new methods to illustrate the etiology of cleft lip and palate that could provide more inspiration on future researches.

  15. MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

    Directory of Open Access Journals (Sweden)

    L.T. Souza

    2013-08-01

    Full Text Available Nonsyndromic oral clefts (NSOC are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1 CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clínicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp, 0.169 (173 bp, 0.096 (171 bp and 0.67 (169 bp. A transmission disequilibrium test with a family-based association test (FBAT software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005. These results suggest that the CA repeat polymorphism of the MSX1 gene may play a role in risk of NSOC in populations from Southern Brazil.

  16. Investigation of the Matrix Metalloproteinase-2 Gene in Patients with Non-Syndromic Mitral Valve Prolapse

    Directory of Open Access Journals (Sweden)

    Maëlle Perrocheau

    2015-07-01

    Full Text Available Non-syndromic mitral valve prolapse (MVP is a common degenerative valvulopathy, predisposing to arrhythmia and sudden death. The etiology of MVP is suspected to be under genetic control, as supported by familial cases and its manifestation in genetic syndrome (e.g., Marfan syndrome. One candidate etiological mechanism is a perturbation of the extracellular matrix (ECM remodeling of the valve. To test this hypothesis, we assessed the role of genetic variants in the matrix metalloproteinase 2 gene (MMP2 known to regulate the ECM turnover by direct degradation of proteins and for which transgenic mice develop MVP. Direct sequencing of exons of MMP2 in 47 unrelated patients and segregation analyses in families did not reveal any causative mutation. We studied eight common single nucleotide polymorphisms (TagSNPs, which summarize the genetic information at the MMP2 locus. The association study in two case controls sets (NCases = 1073 and NControls = 1635 provided suggestive evidence for the association of rs1556888 located downstream MMP2 with the risk of MVP, especially in patients with the fibroelastic defiency form. Our study does not support the contribution of MMP2 rare variation in the etiology to MVP in humans, though further genetic and molecular investigation is required to confirm our current suggestive association of one common variant.

  17. MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

    Energy Technology Data Exchange (ETDEWEB)

    Souza, L.T. [Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS (Brazil); Programa de Pós-Graduaçãoo em Saúde da Criança e do Adolescente, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS (Brazil); Kowalski, T.W. [Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS (Brazil); Collares, M.V.M. [Universidade Federal do Rio Grande do Sul, Departamento de Cirurgia, Porto Alegre, RS, Brasil, Departamento de Cirurgia, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS (Brazil); Félix, T.M. [Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS (Brazil); Programa de Pós-Graduaçãoo em Saúde da Criança e do Adolescente, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS (Brazil); Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brasil, Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS (Brazil)

    2013-08-10

    Nonsyndromic oral clefts (NSOC) are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1 CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clínicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp), 0.169 (173 bp), 0.096 (171 bp) and 0.67 (169 bp). A transmission disequilibrium test with a family-based association test (FBAT) software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005). These results suggest that the CA repeat polymorphism of the MSX1 gene may play a role in risk of NSOC in populations from Southern Brazil.

  18. Non-syndromic supernumerary teeth: report of a case with 6 supernumerary teeth

    Directory of Open Access Journals (Sweden)

    Taghibakhsh M

    2011-02-01

    Full Text Available "nBackground and Aims: Multiple supernumerary teeth are rare and often found in association with syndromes such as Gardner, Cleidocranial dysplasia and cleft lip and palate, with a much less chance for isolated"nnon-syndromic cases. The aim of this study was to report a case with 6 supernumerary teeth without syndromic association."nCase Report: The patient was a 33 year-old female, referred to oral diseases and diagnosis department with chief complaint of sensitivity to cold and hot food in right upper premolar region. Oral examination revealed 5 erupted lingually supernumerary teeth (four in mandibular and one in maxillary premolar region, respectively. Further panoramic radiography clarified an extra impacted tooth in the palatal region of left premolar maxillary area. All extra teeth had been appeared since the age of 17 during one year, as the patient claimed. Medical history and thorough clinical and paraclinical examinations were not significant except for the hypothyroidism, since 5 years ago. No other family member noticed to be the case. Based on our findings, a diagnosis of non-syndromic multiple supernumerary teeth was established."nConclusion: A thorough examination of each patient presented with supernumerary teeth, including panoramic and intraoral radiographic images may provide valuable information regarding accompanying syndromes and unerupted teeth. Early diagnosis is an essential step for orthodontic or surgical decisions making, preventing or avoiding worsening complications such as malocclusion, adjacent normal teeth delayed eruption or rotation, diasthema, cystic lesions and resorption of contiguous teeth.

  19. MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

    International Nuclear Information System (INIS)

    Souza, L.T.; Kowalski, T.W.; Collares, M.V.M.; Félix, T.M.

    2013-01-01

    Nonsyndromic oral clefts (NSOC) are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1 CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clínicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp), 0.169 (173 bp), 0.096 (171 bp) and 0.67 (169 bp). A transmission disequilibrium test with a family-based association test (FBAT) software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005). These results suggest that the CA repeat polymorphism of the MSX1 gene may play a role in risk of NSOC in populations from Southern Brazil

  20. Susceptibility to DNA damage as a molecular mechanism for non-syndromic cleft lip and palate.

    Directory of Open Access Journals (Sweden)

    Gerson Shigeru Kobayashi

    Full Text Available Non-syndromic cleft lip/palate (NSCL/P is a complex, frequent congenital malformation, determined by the interplay between genetic and environmental factors during embryonic development. Previous findings have appointed an aetiological overlap between NSCL/P and cancer, and alterations in similar biological pathways may underpin both conditions. Here, using a combination of transcriptomic profiling and functional approaches, we report that NSCL/P dental pulp stem cells exhibit dysregulation of a co-expressed gene network mainly associated with DNA double-strand break repair and cell cycle control (p = 2.88×10(-2-5.02×10(-9. This network included important genes for these cellular processes, such as BRCA1, RAD51, and MSH2, which are predicted to be regulated by transcription factor E2F1. Functional assays support these findings, revealing that NSCL/P cells accumulate DNA double-strand breaks upon exposure to H2O2. Furthermore, we show that E2f1, Brca1 and Rad51 are co-expressed in the developing embryonic orofacial primordia, and may act as a molecular hub playing a role in lip and palate morphogenesis. In conclusion, we show for the first time that cellular defences against DNA damage may take part in determining the susceptibility to NSCL/P. These results are in accordance with the hypothesis of aetiological overlap between this malformation and cancer, and suggest a new pathogenic mechanism for the disease.

  1. Emotion Understanding in Deaf Children with a Cochlear Implant

    Science.gov (United States)

    Wiefferink, Carin H.; Rieffe, Carolien; Ketelaar, Lizet; De Raeve, Leo; Frijns, Johan H. M.

    2013-01-01

    It is still largely unknown how receiving a cochlear implant affects the emotion understanding in deaf children. We examined indices for emotion understanding and their associations with communication skills in children aged 2.5-5 years, both hearing children (n = 52) and deaf children with a cochlear implant (n = 57). 2 aspects of emotion…

  2. Deaf children's understanding of emotions: desires take precedence

    NARCIS (Netherlands)

    Rieffe, C.J.; Meerum Terwogt, M.

    2000-01-01

    Deaf children frequently have trouble understanding other people's emotions. It has been suggested that an impaired theory of mind can account for this. This research focused on the spontaneous use of mental states in explaining other people's emotions by 6- and 10-year-old deaf children as compared

  3. Monaural Congenital Deafness Affects Aural Dominance and Degrades Binaural Processing

    Science.gov (United States)

    Tillein, Jochen; Hubka, Peter; Kral, Andrej

    2016-01-01

    Cortical development extensively depends on sensory experience. Effects of congenital monaural and binaural deafness on cortical aural dominance and representation of binaural cues were investigated in the present study. We used an animal model that precisely mimics the clinical scenario of unilateral cochlear implantation in an individual with single-sided congenital deafness. Multiunit responses in cortical field A1 to cochlear implant stimulation were studied in normal-hearing cats, bilaterally congenitally deaf cats (CDCs), and unilaterally deaf cats (uCDCs). Binaural deafness reduced cortical responsiveness and decreased response thresholds and dynamic range. In contrast to CDCs, in uCDCs, cortical responsiveness was not reduced, but hemispheric-specific reorganization of aural dominance and binaural interactions were observed. Deafness led to a substantial drop in binaural facilitation in CDCs and uCDCs, demonstrating the inevitable role of experience for a binaural benefit. Sensitivity to interaural time differences was more reduced in uCDCs than in CDCs, particularly at the hemisphere ipsilateral to the hearing ear. Compared with binaural deafness, unilateral hearing prevented nonspecific reduction in cortical responsiveness, but extensively reorganized aural dominance and binaural responses. The deaf ear remained coupled with the cortex in uCDCs, demonstrating a significant difference to deprivation amblyopia in the visual system. PMID:26803166

  4. Effect of Peer Education on Deaf Secondary School Students' HIV ...

    African Journals Online (AJOL)

    This study evaluated the effect of an AIDS education program on deaf secondary school students' knowledge, attitude and perceived susceptibility to AIDS using peer education. Two secondary schools matched for ownership (government), composition (mixture of hearing and deaf) and teaching arrangement (separate ...

  5. 77 FR 42187 - Relay Services for Deaf-Blind Individuals

    Science.gov (United States)

    2012-07-18

    ... for Deaf-Blind Individuals AGENCY: Federal Communications Commission. ACTION: Final rule; announcement... the Commission's Implementation of the Twenty-First Century Communications and Video Accessibility Act of 2010, Section 105, Relay Services for Deaf-Blind Individuals, Order (Order). This document is...

  6. 76 FR 31261 - Relay Services for Deaf-Blind Individuals

    Science.gov (United States)

    2011-05-31

    ... for Deaf-Blind Individuals AGENCY: Federal Communications Commission. ACTION: Final rule; correction... Federal Register of May 9, 2011, 76 FR 26641. The document adopts rules to establish the National Deaf... Communications and Video Accessibility Act (CVAA). DATES: Effective June 8, 2011. FOR FURTHER INFORMATION CONTACT...

  7. Inclusive education for Deaf students: Literacy practices and South ...

    African Journals Online (AJOL)

    Inclusive education for Deaf students: Literacy practices and South African Sign Language. ... Southern African Linguistics and Applied Language Studies ... of inclusive education for Deaf students in a mainstream Further Education and Training (FET) classroom through the use of a South African Sign Language interpreter.

  8. The Implications of Congenital Deafness for Working Memory.

    Science.gov (United States)

    Chalifoux, Lisa M.

    1991-01-01

    A. Baddeley's model of the working memory of congenitally deaf persons is examined in light of research on encoding by this population. It is concluded that a model of the working memory of the deaf must include subsystems for articulatory, sign, and visual encoding. (Author/DB)

  9. A Sociolinguistic Profile of the Peruvian Deaf Community

    Science.gov (United States)

    Parks, Elizabeth; Parks, Jason

    2010-01-01

    A sociolinguistic survey of the sign language used by the deaf communities of Peru was conducted in November and December of 2007. For eight weeks, our survey team visited six deaf communities in the cities of Lima, Arequipa, Cusco, Trujillo, Chiclayo, and Iquitos. Using sociolinguistic questionnaires and recorded text testing (RTT) tools, we…

  10. Memory and Rehearsal Characteristics of Profoundly Deaf Children.

    Science.gov (United States)

    Bebko, James M.

    1984-01-01

    Tests 64 deaf students from oral and total communication settings to examine whether a deficiency in spontaneous strategy use accounts for their verbal short-term memory performance. Spontaneous rehearsal of both deaf samples seemed to emerge later than the hearing sample's and was inefficiently implemented and less effective in mediating recall…

  11. Reading comprehension of deaf children with cochlear implants

    NARCIS (Netherlands)

    Vermeulen, A.M.; Bon, W.H.J. van; Schreuder, R.; Knoors, H.E.T.; Snik, A.F.M.

    2007-01-01

    The reading comprehension and visual word recognition in 50 deaf children and adolescents with at least 3 years of cochlear implant (0) use were evaluated. Their skills were contrasted with reference data of 500 deaf children without CIs. The reading comprehension level in children with CIs was

  12. Complex word reading in Dutch deaf children and adults

    NARCIS (Netherlands)

    Hoogmoed, A.H. van; Knoors, H.E.T.; Schreuder, R.; Verhoeven, L.T.W.

    2013-01-01

    Children who are deaf are often delayed in reading comprehension. This delay could be due to problems in morphological processing during word reading. In this study, we investigated whether 6th grade deaf children and adults are delayed in comparison to their hearing peers in reading complex

  13. Complex Word Reading in Dutch Deaf Children and Adults

    Science.gov (United States)

    van Hoogmoed, Anne H.; Knoors, Harry; Schreuder, Robert; Verhoeven, Ludo

    2013-01-01

    Children who are deaf are often delayed in reading comprehension. This delay could be due to problems in morphological processing during word reading. In this study, we investigated whether 6th grade deaf children and adults are delayed in comparison to their hearing peers in reading complex derivational words and compounds compared to…

  14. Text Revision in Deaf and Hearing Bilingual Students

    Science.gov (United States)

    Teruggi, Lilia A.; Gutiérrez-Cáceres, Rafaela

    2016-01-01

    In this study we explored the revision process and strategies implemented by deaf and hearing students who attend the same bilingual school context (LIS and Italian). For that we analysed and compared the types and quality of revisions made by deaf and hearing participants to their first draft of a narrative text ("Frog, Where Are You?")…

  15. Motor Development of Deaf Children with and without Cochlear Implants

    Science.gov (United States)

    Gheysen, Freja; Loots, Gerrit; Van Waelvelde, Hilde

    2008-01-01

    The purpose of this study was to investigate the impact of a cochlear implant (CI) on the motor development of deaf children. The study involved 36 mainstreamed deaf children (15 boys, 21 girls; 4- to 12-years old) without any developmental problems. Of these children, 20 had been implanted. Forty-three hearing children constituted a comparison…

  16. Technologies of Language and the Embodied History of the Deaf.

    Science.gov (United States)

    McCleary, Leland

    2003-01-01

    Discusses the linguistic situation of the deaf and the shift in linguistic ideology from graphocentrism to orocentrism, which forms the scenario in which deaf people are struggling to legitimize their natural form of expression. Questions both graphocentrism and orocentrism and proposes neutral terms and a neutral perspective from which orality…

  17. Monaural Congenital Deafness Affects Aural Dominance and Degrades Binaural Processing.

    Science.gov (United States)

    Tillein, Jochen; Hubka, Peter; Kral, Andrej

    2016-04-01

    Cortical development extensively depends on sensory experience. Effects of congenital monaural and binaural deafness on cortical aural dominance and representation of binaural cues were investigated in the present study. We used an animal model that precisely mimics the clinical scenario of unilateral cochlear implantation in an individual with single-sided congenital deafness. Multiunit responses in cortical field A1 to cochlear implant stimulation were studied in normal-hearing cats, bilaterally congenitally deaf cats (CDCs), and unilaterally deaf cats (uCDCs). Binaural deafness reduced cortical responsiveness and decreased response thresholds and dynamic range. In contrast to CDCs, in uCDCs, cortical responsiveness was not reduced, but hemispheric-specific reorganization of aural dominance and binaural interactions were observed. Deafness led to a substantial drop in binaural facilitation in CDCs and uCDCs, demonstrating the inevitable role of experience for a binaural benefit. Sensitivity to interaural time differences was more reduced in uCDCs than in CDCs, particularly at the hemisphere ipsilateral to the hearing ear. Compared with binaural deafness, unilateral hearing prevented nonspecific reduction in cortical responsiveness, but extensively reorganized aural dominance and binaural responses. The deaf ear remained coupled with the cortex in uCDCs, demonstrating a significant difference to deprivation amblyopia in the visual system. © The Author 2016. Published by Oxford University Press.

  18. The Horror of Being Deaf and in Prison

    Science.gov (United States)

    Vernon, McCay

    2010-01-01

    Being deaf and in prison is a horror. The main fear of prison inmates, whether Deaf or hearing, is that they will be raped, killed, or subjected to other forms of violence. Such fears are based in reality. The recent overcrowding of jails and prisons has increased these problems significantly. A major reason for this situation is the blatant…

  19. Deaf Women: Educational Experiences and Self-Identity

    Science.gov (United States)

    Najarian, Cheryl G.

    2008-01-01

    Using life history interviews with 10 college educated Deaf women this paper investigates connections between early education and college experience and how they identified as Deaf. The women developed strategies as they managed their impressions while employing Goffman's practices of loyalty, discipline and circumspection. Acknowledging deafness…

  20. A Developmental Model Applied to Problems of Deafness.

    Science.gov (United States)

    Schlesinger, Hilde S.

    2000-01-01

    This "classic" article (1972) in the field of deaf studies includes some interpretive notes for current readers. The article examines the effect of deafness on basic developmental tasks at each of the eight developmental stages of Erik Erikson's theory of psychosocial development and explains the more successful passage through these…

  1. New Methodologies To Evaluate the Memory Strategies of Deaf Individuals.

    Science.gov (United States)

    Clark, Diane

    Prior studies have often confounded linguistic and perceptual performance when evaluating deaf subjects' skills, a confusion that may be responsible for results indicating lesser recall ability among the deaf. In this series of studies this linguistic/perceptual confound was investigated in both the iconic and short term memory of deaf…

  2. An Examination of Health Information Management by the Deaf

    Science.gov (United States)

    Karras, Elizabeth

    2010-01-01

    Little is known about how Deaf people perceive, access, and utilize interpersonal and media sources for health information. In light of the scarcity of research on health information management among this group, a two-phase study was conducted that included eight focus groups (N=39) and survey data (N=366) with Deaf participants to determine the…

  3. Cyborgization: Deaf Education for Young Children in the Cochlear Implantation Era

    Science.gov (United States)

    Valente, Joseph Michael

    2011-01-01

    The author, who was raised oral deaf himself, recounts a visit to a school for young deaf children and discovers that young d/Deaf children and their rights are subverted by the cochlear implantation empire. The hypercapitalist, techno-manic times of cochlear implantation has wreaked havoc to the lives of not only young children with deafness but…

  4. Sign Language and the Learning of Swedish by Deaf Children (Project TSD).

    Science.gov (United States)

    Jansson, Karin, Ed.

    1982-01-01

    A project in Sweden focuses on the early linguistic development of preschool deaf children in families where the parents are also deaf. The School for the Deaf in Sweden is involved with describing the Swedish language as it appears to a deaf learner, a description to be used as a basis for teacher training and inservice in the teaching of the…

  5. Perspectiva General sobre la Sordo-Ceguera (Overview on Deaf-Blindness). DB-LINK.

    Science.gov (United States)

    Miles, Barbara

    This overview provides basic information on the causes of deaf-blindness and the particular challenges faced by individuals who are deaf-blind. Causes of deaf-blindness include various syndromes, multiple congenital anomalies, prematurity, congenital prenatal dysfunction, and various postnatal causes. Differences between people deaf-blind from…

  6. Signs of Resistance: Peer Learning of Sign Languages within "Oral" Schools for the Deaf

    Science.gov (United States)

    Anglin-Jaffe, Hannah

    2013-01-01

    This article explores the role of the Deaf child as peer educator. In schools where sign languages were banned, Deaf children became the educators of their Deaf peers in a number of contexts worldwide. This paper analyses how this peer education of sign language worked in context by drawing on two examples from boarding schools for the deaf in…

  7. Monitoring the Achievement of Deaf Pupils in Sweden and Scotland: Approaches and Outcomes

    Science.gov (United States)

    Hendar, Ola; O'Neill, Rachel

    2016-01-01

    Over the past two decades there have been major developments in deaf education in many countries. Medical and technical advances have made it possible for more deaf children to hear and speak successfully. Most deaf pupils learn in ordinary classes in mainstream schools. In this article we explore patterns of achievements of deaf pupils to see if…

  8. Not Silent, Invisible: Literature's Chance Encounters with Deaf Heroes and Heroines

    Science.gov (United States)

    McDonald, Donna M.

    2010-01-01

    Literatures is both a rich resource and a blunt instrument in conveying the complexities of identity, in particular, the elusive "deaf identity". The rarity of the fully realized deaf person in memoir and fiction shapes the way readers regard deaf people and throws up fresh challenges in redesigning stories of deafness free of the taint of…

  9. Thirty Wonderful Years: A Program of Service to the Deaf and Hard of Hearing.

    Science.gov (United States)

    Seal, Albert G.

    A former vocational rehabilitation counselor for the deaf in Louisiana recounts his experiences in initiating the state program, and discusses education of counselors for the deaf, career planning, and vocational placement of young deaf adults. Also described is the development of a special program for the deaf at Delgado College in New Orleans.…

  10. The significance of deaf identity for psychological well-being

    DEFF Research Database (Denmark)

    Chapman, Madeleine; Dammeyer, Jesper

    2017-01-01

    of psychological well-being than those with a marginal identity. Further, it found that additional disability, educational level, and feeling discriminated against significantly and independently explained the degree of psychological well-being. Results are discussed here with respect to social identity theory......Research has paid attention to how deaf identity affects life outcomes such as psychological well-being. However, studies are often carried out with small samples and without controlling for other variables. This study examined how different forms of identity—deaf, hearing, bicultural (deaf...... and hearing), and marginal (neither deaf nor hearing)—were associated with levels of psychological well-being and a number of other variables. The sample was 742 adults with hearing loss in Denmark. The study found that those with a deaf, hearing or bicultural identity had significantly higher levels...

  11. Inclusive instruction and learning for deaf students in postsecondary education.

    Science.gov (United States)

    Foster, S; Long, G; Snell, K

    1999-01-01

    This article explores how students who are deaf and their instructors experience mainstream college classes. Both quantitative and qualitative procedures were used to examine student access to information and their sense of belonging and engagement in learning. Instructors were asked to discuss their approach to teaching and any instructional modifications made to address the needs of deaf learners. Results indicate that deaf students viewed classroom communication and engagement in a similar manner as their hearing peers. Deaf students were more concerned about the pace of instruction and did not feel as much a part of the 'university family' as did their hearing peers. Faculty generally indicated that they made few if any modifications for deaf students and saw support service faculty as responsible for the success or failure of these students. We discuss results of these and additional findings with regard to barriers to equal access and strategies for overcoming these barriers.

  12. Environmental assessment overview, Deaf Smith County site, Texas

    International Nuclear Information System (INIS)

    1986-05-01

    In February 1983, the US Department of Energy (DOE) identified a location in Deaf Smith County, Texas, as one of nine potentially acceptable sites for mined geologic repository for spent nuclear fuel and high-level radioactive waste. To determine their suitability, the Deaf Smith County site and eight other potentially acceptable sites have been evaluated in accordance with the DOE's General Guidelines for the Recommendation of Sites for the Nuclear Waste Repositories. The Deaf Smith County site is in the Permian Basin, which is one of five distinct geohydrologic settings considered for the first repository. On the basis of the evaluations reported in this EA, the DOE has found that the Deaf Smith County site is not disqualified under the guidelines. On the basis of these findings, the DOE is nominating the Deaf Smith County site as one of five sites suitable for characterization. 3 figs

  13. Deaf Stigma: Links Between Stigma and Well-Being Among Deaf Emerging Adults.

    Science.gov (United States)

    Mousley, Victoria L; Chaudoir, Stephenie R

    2018-05-31

    Although stigma has been linked to suboptimal psychological and physical health outcomes in marginalized communities such as persons of color, sexual minorities, and people living with HIV/AIDS, no known research has examined these effects among deaf individuals. In the present research, we examine the associations between anticipated, enacted, and internalized stigma and psychological well-being (i.e., depressive symptoms, anxiety) and physical well-being (i.e., quality of life, alcohol use) among a sample of 171 deaf emerging adults. Furthermore, we consider whether trait resilience and benefit-finding moderate these effects. Enacted stigma, but not anticipated or internalized stigma, was related to worse depressive symptoms, anxiety, and quality of life. However, none of these variables predicted alcohol use and neither resilience nor benefit-finding moderated these effects. These findings are consistent with other research among marginalized populations, though they are also the first to suggest that experiences of discrimination are related to suboptimal well-being among deaf emerging adults. The discussion considers how these findings may illuminate the potential causes of disparities in well-being between hearing and deaf emerging adults.

  14. College Students Who Are Deaf-Blind. Practice Perspectives--Highlighting Information on Deaf-Blindness. Number 7

    Science.gov (United States)

    Arndt, Katrina

    2011-01-01

    Imagine being in college and being deaf-blind. What opportunities might you have? What types of challenges would you face? This publication describes a study that begins to answer these questions. During the study, 11 college students with deaf-blindness were interviewed about their college experiences. They were like most college students in many…

  15. Language development in deaf children’s interactions with deaf and hearing adults. A Dutch longitudinal study

    NARCIS (Netherlands)

    Klatter-Folmer, H.A.K.; Hout, R.W.N.M. van; Kolen, E.; Verhoeven, L.T.W.

    2006-01-01

    The language development of two deaf girls and four deaf boys in Sign Language of the Netherlands (SLN) and spoken Dutch was investigated longitudinally. At the start, the mean age of the children was 3;5. All data were collected in video-recorded semistructured conversations between individual

  16. Educational Outcomes of Young People in Scotland Who Are Deaf or Hard of Hearing: Intersections of Deafness and Social Class

    Science.gov (United States)

    Fordyce, Mariela; Riddell, Sheila; O'Neill, Rachel; Weedon, Elisabet

    2015-01-01

    This article focuses on the intersection between deafness and social class in the context of the unstable economic circumstances in Scotland following the 2007 recession. More specifically, this research investigated the following in the case of young people who are deaf or hard of hearing (DHH): (1) the interaction between educational attainment…

  17. Visual advantage in deaf adults linked to retinal changes.

    Directory of Open Access Journals (Sweden)

    Charlotte Codina

    Full Text Available The altered sensory experience of profound early onset deafness provokes sometimes large scale neural reorganisations. In particular, auditory-visual cross-modal plasticity occurs, wherein redundant auditory cortex becomes recruited to vision. However, the effect of human deafness on neural structures involved in visual processing prior to the visual cortex has never been investigated, either in humans or animals. We investigated neural changes at the retina and optic nerve head in profoundly deaf (N = 14 and hearing (N = 15 adults using Optical Coherence Tomography (OCT, an in-vivo light interference method of quantifying retinal micro-structure. We compared retinal changes with behavioural results from the same deaf and hearing adults, measuring sensitivity in the peripheral visual field using Goldmann perimetry. Deaf adults had significantly larger neural rim areas, within the optic nerve head in comparison to hearing controls suggesting greater retinal ganglion cell number. Deaf adults also demonstrated significantly larger visual field areas (indicating greater peripheral sensitivity than controls. Furthermore, neural rim area was significantly correlated with visual field area in both deaf and hearing adults. Deaf adults also showed a significantly different pattern of retinal nerve fibre layer (RNFL distribution compared to controls. Significant correlations between the depth of the RNFL at the inferior-nasal peripapillary retina and the corresponding far temporal and superior temporal visual field areas (sensitivity were found. Our results show that cross-modal plasticity after early onset deafness may not be limited to the sensory cortices, noting specific retinal adaptations in early onset deaf adults which are significantly correlated with peripheral vision sensitivity.

  18. Deaf identities in a multicultural setting: The Ugandan context

    Directory of Open Access Journals (Sweden)

    Anthony B. Mugeere

    2015-05-01

    Full Text Available Often located far apart from each other, deaf and hearing impaired persons face a multiplicity of challenges that evolve around isolation, neglect and the deprivation of essential social services that affect their welfare and survival. Although it is evident that the number of persons born with or acquire hearing impairments in later stages of their lives is increasing in many developing countries, there is limited research on this population. The main objective of this article is to explore the identities and experiences of living as a person who is deaf in Uganda. Using data from semi-structured interviews with 42 deaf persons (aged 19–41 and three focus group discussions, the study findings show that beneath the more pragmatic identities documented in the United States and European discourses there is a matrix of ambiguous, often competing and manifold forms in Uganda that are not necessarily based on the deaf and deaf constructions. The results further show that the country’s cultural, religious and ethnic diversity is more of a restraint than an enabler to the aspirations of the deaf community. The study concludes that researchers and policy makers need to be cognisant of the unique issues underlying deaf epistemologies whilst implementing policy and programme initiatives that directly affect them. The upper case ‘D’ in the term deaf is a convention that has been used since the early 1970s to connote a ‘socially constructed visual culture’ or a linguistic, social and cultural minority group who use sign language as primary means of communication and identify with the deaf community, whereas the lower case ‘d’ in deaf refers to ‘the audio logical condition of hearing impairment’. However, in this article the lower case has been used consistently.

  19. Deaf identities in a multicultural setting: The Ugandan context

    Science.gov (United States)

    Atekyereza, Peter R.; Kirumira, Edward K.; Hojer, Staffan

    2015-01-01

    Often located far apart from each other, deaf and hearing impaired persons face a multiplicity of challenges that evolve around isolation, neglect and the deprivation of essential social services that affect their welfare and survival. Although it is evident that the number of persons born with or acquire hearing impairments in later stages of their lives is increasing in many developing countries, there is limited research on this population. The main objective of this article is to explore the identities and experiences of living as a person who is deaf in Uganda. Using data from semi-structured interviews with 42 deaf persons (aged 19–41) and three focus group discussions, the study findings show that beneath the more pragmatic identities documented in the United States and European discourses there is a matrix of ambiguous, often competing and manifold forms in Uganda that are not necessarily based on the deaf and deaf constructions. The results further show that the country's cultural, religious and ethnic diversity is more of a restraint than an enabler to the aspirations of the deaf community. The study concludes that researchers and policy makers need to be cognisant of the unique issues underlying deaf epistemologies whilst implementing policy and programme initiatives that directly affect them. The upper case ‘D’ in the term deaf is a convention that has been used since the early 1970s to connote a ‘socially constructed visual culture’ or a linguistic, social and cultural minority group who use sign language as primary means of communication and identify with the deaf community, whereas the lower case ‘d’ in deaf refers to ‘the audio logical condition of hearing impairment’. However, in this article the lower case has been used consistently. PMID:28730015

  20. Behavioral Signs of (Central) Auditory Processing Disorder in Children With Nonsyndromic Cleft Lip and/or Palate: A Parental Questionnaire Approach.

    Science.gov (United States)

    Ma, Xiaoran; McPherson, Bradley; Ma, Lian

    2016-03-01

    Objective Children with nonsyndromic cleft lip and/or palate often have a high prevalence of middle ear dysfunction. However, there are also indications that they may have a higher prevalence of (central) auditory processing disorder. This study used Fisher's Auditory Problems Checklist for caregivers to determine whether children with nonsyndromic cleft lip and/or palate have potentially more auditory processing difficulties compared with craniofacially normal children. Methods Caregivers of 147 school-aged children with nonsyndromic cleft lip and/or palate were recruited for the study. This group was divided into three subgroups: cleft lip, cleft palate, and cleft lip and palate. Caregivers of 60 craniofacially normal children were recruited as a control group. Hearing health tests were conducted to evaluate peripheral hearing. Caregivers of children who passed this assessment battery completed Fisher's Auditory Problems Checklist, which contains 25 questions related to behaviors linked to (central) auditory processing disorder. Results Children with cleft palate showed the lowest scores on the Fisher's Auditory Problems Checklist questionnaire, consistent with a higher index of suspicion for (central) auditory processing disorder. There was a significant difference in the manifestation of (central) auditory processing disorder-linked behaviors between the cleft palate and the control groups. The most common behaviors reported in the nonsyndromic cleft lip and/or palate group were short attention span and reduced learning motivation, along with hearing difficulties in noise. Conclusion A higher occurrence of (central) auditory processing disorder-linked behaviors were found in children with nonsyndromic cleft lip and/or palate, particularly cleft palate. Auditory processing abilities should not be ignored in children with nonsyndromic cleft lip and/or palate, and it is necessary to consider assessment tests for (central) auditory processing disorder when an

  1. Deaf capital: an exploration of the relationship between stigma and value in deaf multilevel marketing participation in Urban India.

    Science.gov (United States)

    Friedner, Michele

    2014-12-01

    This article ethnographically examines how some deaf people in urban India have begun to orient themselves toward the future by participating in multilevel marketing businesses. In the absence of other structural possibilities for deaf future-making, deaf Indians have turned to such businesses in search of social, economic, and moral livelihood. This article analyzes participation in one particular business and asks how participating within the business both enables and disables the cultivation of specific ideas of development. Particular attention is devoted to exploring the multiple registers of the concept of "deaf development" and how such development may be cultivated through multilevel marketing businesses. This article aims to make a critical intervention in medical anthropology studies of disability by arguing that disability (or in this case deafness) can function as a source of value, therefore highlighting tensions between stigma and value. © 2014 by the American Anthropological Association.

  2. A professional development programme for teachers of the deaf in South Africa

    OpenAIRE

    2012-01-01

    D.Ed. Education for the Deaf in South Africa appears to be insufficiently researched, contributing to a less than ideal educational situation. Teachers are not trained to address the special needs of Deaf learners, there is limited cohesive instructional theory and the educational policy focussing on the needs of Deaf learners is limited in both range and depth. Due to the ineffectiveness of Deaf education in South Africa, the majority of Deaf school leavers leave school linguistically imp...

  3. Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

    DEFF Research Database (Denmark)

    Rehman, Shoaib ur; Baig, Shahid Mahmood; Eiberg, Hans

    2011-01-01

    done in all sampled individuals in the family. The nuclear central loop in the five generation family showed homozygosity for a 6-Mb telomeric region on 11p15, whereas all other linkage regions were excluded by calculation of logarithm of odds (LOD) for the SNP microarray data. A maximum LOD score of Z......Autosomal recessive inherited mental retardation is an extremely heterogeneous disease and accounts for approximately 25% of all non-syndromic mental retardation cases. Autozygosity mapping of a large consanguineous Pakistani family revealed a novel locus for non-syndromic autosomal recessive...

  4. Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate

    Science.gov (United States)

    Mangold, Elisabeth; Böhmer, Anne C.; Ishorst, Nina; Hoebel, Ann-Kathrin; Gültepe, Pinar; Schuenke, Hannah; Klamt, Johanna; Hofmann, Andrea; Gölz, Lina; Raff, Ruth; Tessmann, Peter; Nowak, Stefanie; Reutter, Heiko; Hemprich, Alexander; Kreusch, Thomas; Kramer, Franz-Josef; Braumann, Bert; Reich, Rudolf; Schmidt, Gül; Jäger, Andreas; Reiter, Rudolf; Brosch, Sibylle; Stavusis, Janis; Ishida, Miho; Seselgyte, Rimante; Moore, Gudrun E.; Nöthen, Markus M.; Borck, Guntram; Aldhorae, Khalid A.; Lace, Baiba; Stanier, Philip; Knapp, Michael; Ludwig, Kerstin U.

    2016-01-01

    Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most frequent subphenotypes of orofacial clefts. A common syndromic form of orofacial clefting is Van der Woude syndrome (VWS) where individuals have CL/P or CPO, often but not always associated with lower lip pits. Recently, ∼5% of VWS-affected individuals were identified with mutations in the grainy head-like 3 gene (GRHL3). To investigate GRHL3 in nonsyndromic clefting, we sequenced its coding region in 576 Europeans with nsCL/P and 96 with nsCPO. Most strikingly, nsCPO-affected individuals had a higher minor allele frequency for rs41268753 (0.099) than control subjects (0.049; p = 1.24 × 10−2). This association was replicated in nsCPO/control cohorts from Latvia, Yemen, and the UK (pcombined = 2.63 × 10−5; ORallelic = 2.46 [95% CI 1.6–3.7]) and reached genome-wide significance in combination with imputed data from a GWAS in nsCPO triads (p = 2.73 × 10−9). Notably, rs41268753 is not associated with nsCL/P (p = 0.45). rs41268753 encodes the highly conserved p.Thr454Met (c.1361C>T) (GERP = 5.3), which prediction programs denote as deleterious, has a CADD score of 29.6, and increases protein binding capacity in silico. Sequencing also revealed four novel truncating GRHL3 mutations including two that were de novo in four families, where all nine individuals harboring mutations had nsCPO. This is important for genetic counseling: given that VWS is rare compared to nsCPO, our data suggest that dominant GRHL3 mutations are more likely to cause nonsyndromic than syndromic CPO. Thus, with rare dominant mutations and a common risk variant in the coding region, we have identified an important contribution for GRHL3 in nsCPO. PMID:27018475

  5. Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability.

    Science.gov (United States)

    Houge, G; Rasmussen, I H; Hovland, R

    2012-01-01

    In a non-dysmorphic 5-year-old boy with developmental delay, well-controlled epilepsy, and microcephaly, a 234-kb deletion of Xp22.12 was detected by copy number analysis. The maternally inherited deletion removed the initial 15 of the 21 exons of the connector enhancer of KSR-2 gene called CNKSR2 or CNK2. Our finding suggests that loss of CNKSR2 is a novel cause of non-syndromic X-linked mental retardation, an assumption supported by high gene expression in the brain, localization to the post-synaptic density, and a role in RAS/MAPK-dependent signal transduction.

  6. Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability

    OpenAIRE

    Houge, G.; Rasmussen, I.H.; Hovland, R.

    2011-01-01

    In a non-dysmorphic 5-year-old boy with developmental delay, well-controlled epilepsy, and microcephaly, a 234-kb deletion of Xp22.12 was detected by copy number analysis. The maternally inherited deletion removed the initial 15 of the 21 exons of the connector enhancer of KSR-2 gene called CNKSR2 or CNK2. Our finding suggests that loss of CNKSR2 is a novel cause of non-syndromic X-linked mental retardation, an assumption supported by high gene expression in the brain, localization to the pos...

  7. THE DEAF PERSON INCLUSION OF HIGHER EDUCATION

    Directory of Open Access Journals (Sweden)

    Rose Mery Gómez Tovar

    2013-12-01

    Full Text Available The research that is presented in this study is based on my experience with deaf students from the Psicology and therapist faculty of human communication which is an academic unit from the Juarez University of the Durango state. This article compiles and analyzes the process of inclusive and educational settings that the institution has.  This study is executed from the adoption of the analysis model of the biographic narrative investigation seen from the cualitative paradigm. In this project, the collected information is interpreted through the narrations, interviews, photo evidences and recordings make to the participants in order to give an appropriate response to the different objectives.

  8. Nkx2-5 Mutations in Patients With Nonsyndromic Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Fariborz Soheili

    2016-01-01

    Full Text Available Background Congenital heart diseases (CHD are the most common of all birth defects, affecting nearly 0.9% of all live births. Nkx2-5 mutations were reported to cause CHD but data in Kurdish populations of Iran are limited. Objectives In this experimental study, we performed high resolution melt (HRM mutation scanning of Nkx2-5 exons of non-syndrome patients. Patients and Methods Thirty nine patients with atrial septal defect and 57 patients with ventricular septal defect, 4 patients possessing both defects as case groups and 50 healthy controls. Then we grouped samples according to HRM graph and sequenced several samples from each group. Results HRM analysis showed 2 deviated curves for exon 1 and one group for exon 2A and exon 2B. Then, 2 samples of exon 1 that showed different HRM curves, 3 samples of another group from this exon and 5 samples of exon 2A, 2B and healthy controls were randomly sequenced. The results of sequencing confirmed the HRM analysis, and one polymorphism (A65G was identified in 2 atrial septal defects with deviated curves. Conclusions The environmental and effective factors on the heart development within embryonic evolution as well as the possibility of the existence of the mutation in coding genes of the other cardiac transcription factors such as GATA4 and TBX5 can be the reasons for the lack of the pathogenic mutation in this study. It is suggested in further related studies to investigate normal and abnormal cardiac tissue samples of these studied patients and coding genes of the other cardiac transcription factors.

  9. Prevalence and characteristics of non-syndromic orofacial clefts and the influence of consanguinity.

    Science.gov (United States)

    Alamoudi, N M; Sabbagh, H J; Innes, N P T; El Derwi, D; Hanno, A Z; Al-Aama, J Y; Habiballah, A H; Mossey, P A

    2014-01-01

    The Objective of this study was to identify the prevalence and describe the characteristics of non-syndromic orofacial cleft (NSOFC) in Jeddah, Saudi Arabia and examine the influence of consanguinity. Six hospitals were selected to represent Jeddah's five municipal districts. New born infants with NSOFC born between 1st of January 2010 to 31st of December 2011 were clinically examined and their number compared to the total number of infants born in these hospitals to calculate the prevalence of NSOFC types and sub-phenotypes. Referred Infants were included for the purpose of studying NSOFC characteristics and their relationship to consanguinity. Information on NSOFC infants was gathered through parents' interviews, infants 'files and patient examinations. Prospective surveillance of births resulted in identifying 37 NSOFC infants born between 1st of January 2010 to 31st of December 2011 giving a birth prevalence of 0.80/1000 living births. The total infants seen, including referred cases, were 79 children. Consanguinity among parents of cleft palate (CP) cases was statistically higher than that among cleft lip with or without cleft palate (CL/P) patients (P = 0.039). Although there appears to be a trend in the relationship between consanguinity and severity of CL/P sub-phenotype, it was not statistically significant (P = 0.248). Birth prevalence of NSOFC in Jeddah City was 0.8/1000 live births with CL/P: 0.68/1000 and CP: 0.13/1000. Both figures were low compared to the global birth prevalence (NSOFC: 1.25/1000, CL/P: 0.94/1000 and CP: 0.31/1000 live births). Consanguineous parents were statistically higher among CP cases than among other NSOFC phenotypes.

  10. Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population

    Directory of Open Access Journals (Sweden)

    Suazo José

    2011-12-01

    Full Text Available Abstract Background Bone morphogenetic protein 4 gene (BMP4 plays a key role during maxillofacial development, since orofacial clefts are observed in animals when this gene is conditionally inactivated. We recently reported the existence of association between nonsyndromic cleft lip/palate (NSCLP and BMP4 polymorphisms by detecting transmission deviations for haplotypes that include a region containing a BMP4 promoter in case-parent trios. The aim of the present study was to search for possible causal mutations within BMP4 promoters (BMP4.1 and BMP4.2. Methods We analyzed the sequence of BMP4.1 and BMP4.2 in 167 Chilean NSCLP cases and 336 controls. Results We detected three novel variants in BMP4.1 (c.-5514G > A, c.-5365C > T and c.-5049C > T which could be considered as cleft risk factors due to their absence in controls. Additionally, rs2855530 G allele (BMP4.2 carriers showed an increased risk for NSCLP restricted to males (OR = 1.52; 95% C.I. = 1.07-2.15; p = 0.019. For this same SNP the dominant genotype model showed a higher frequency of G/G+G/C and a lower frequency of C/C in cases than controls in the total sample (p = 0.03 and in the male sample (p = 0.003. Bioinformatic prediction analysis showed that all the risk variants detected in this study could create new transcription factor binding motifs. Conclusions The sex-dependent association between rs2855530 and NSCLP could indirectly be related to the differential gene expression observed between sexes in animal models. We concluded that risk variants detected herein could potentially alter BMP4 promoter activity in NSCLP. Further functional and developmental studies are necessary to support this hypothesis.

  11. Health care system accessibility. Experiences and perceptions of deaf people.

    Science.gov (United States)

    Steinberg, Annie G; Barnett, Steven; Meador, Helen E; Wiggins, Erin A; Zazove, Philip

    2006-03-01

    People who are deaf use health care services differently than the general population; little research has been carried out to understand the reasons. To better understand the health care experiences of deaf people who communicate in American Sign Language. Qualitative analyses of focus group discussions in 3 U.S. cities. Ninety-one deaf adults who communicate primarily in American Sign Language. We collected information about health care communication and perceptions of clinicians' attitudes. We elicited stories of both positive and negative encounters, as well as recommendations for improving health care. Communication difficulties were ubiquitous. Fear, mistrust, and frustration were prominent in participants' descriptions of health care encounters. Positive experiences were characterized by the presence of medically experienced certified interpreters, health care practitioners with sign language skills, and practitioners who made an effort to improve communication. Many participants acknowledged limited knowledge of their legal rights and did not advocate for themselves. Some participants believed that health care practitioners should learn more about sociocultural aspects of deafness. Deaf people report difficulties using health care services. Physicians can facilitate change to improve this. Future research should explore the perspective of clinicians when working with deaf people, ways to improve communication, and the impact of programs that teach deaf people self-advocacy skills and about their legal rights.

  12. Deaf women: experiences and perceptions of healthcare system access.

    Science.gov (United States)

    Steinberg, Annie G; Wiggins, Erin A; Barmada, Carlin Henry; Sullivan, Vicki Joy

    2002-10-01

    The authors investigated the knowledge, attitudes, and healthcare experiences of Deaf women. Interviews with 45 deaf women who participated in focus groups in American Sign Language were translated, transcribed, and analyzed. Deaf women's understanding of women's health issues, knowledge of health vocabulary in both English and American Sign Language, common health concerns among Deaf women, and issues of access to information, including pathways and barriers, were examined. As a qualitative study, the results of this investigation are limited and should be viewed as exploratory. A lack of health knowledge was evident, including little understanding of the meaning or value of cancer screening, mammography, or Pap smears; purposes of prescribed medications, such as hormone replacement therapy (HRT); or necessity for other medical or surgical interventions. Negative experiences and avoidance or nonuse of health services were reported, largely due to the lack of a common language with healthcare providers. Insensitive behaviors were also described. Positive experiences and increased access to health information were reported with practitioners who used qualified interpreters. Providers who demonstrated minimal signing skills, a willingness to use paper and pen, and sensitivity to improving communication were appreciated. Deaf women have unique cultural and linguistic issues that affect healthcare experiences. Improved access to health information may be achieved with specialized resource materials, improved prevention and targeted intervention strategies, and self-advocacy skills development. Healthcare providers must be trained to become more effective communicators with Deaf patients and to use qualified interpreters to assure access to healthcare for Deaf women.

  13. Utility of the ImPACT test with deaf adolescents.

    Science.gov (United States)

    Reesman, Jennifer; Pineda, Jill; Carver, Jenny; Brice, Patrick J; Zabel, T Andrew; Schatz, Philip

    2016-02-01

    The goals of the study included empirical examination of the utility of the Immediate and Post-Concussion Assessment and Cognitive Testing (ImPACT) test with adolescents who are deaf or hard-of-hearing and to investigate patterns of performance at baseline that may arise in the assessment of this population. Baseline assessment of student-athletes has been conducted on a widespread scale with focus on performance of typically developing student-athletes and some clinical groups, though to date no studies have examined adolescents who are deaf or hard-of-hearing. Retrospective and de-identified ImPACT baseline test used with deaf and hard-of-hearing high-school student-athletes (N = 143; 66% male, mean age = 16.11) was examined. Review indicated significant differences in some composite scores between the deaf and hard-of-hearing group and hearing normative comparisons. A possible marker of task misunderstanding was identified to occur more frequently within the deaf and hard-of-hearing sample (13% in deaf sample vs. .31% in hearing sample). Results may provide support for the consideration and use of additional measures to ensure comprehension of task demands when considering this tool for use with deaf and hard-of-hearing adolescents.

  14. The lived experience of depression among culturally Deaf adults.

    Science.gov (United States)

    Sheppard, K; Badger, T

    2010-11-01

    Culturally Deaf adults lost hearing at early ages, communicate primarily in American Sign Language (ASL), and self-identify as culturally Deaf. Communication barriers lead to isolation, low self-esteem, abuse, and inadequate health care. Screening Deaf patients for depressive symptoms poses challenge. Nurses are rarely familiar with ASL, and depression screening tools aren't easily translated from English to ASL. Consequently, Deaf adults are not adequately screened for depression. Qualitative interviews were conducted with culturally Deaf adults, and certified interpreters helped to enhance understanding. Text was generated from interview transcriptions and researcher observations. No novel depressive symptoms were described. Various ASL signs were used to represent depression; two participants used a unique gesture that had no meaning to others. Childhood experiences leading to depression included sexual or physical abuse, feeling ostracized from family and like a burden. Suicidal gestures communicated severity of depression. Adults felt interpreters were unwelcome during mental health encounters. No participants were asked about depressive symptoms despite frank manifestations of depression. Study describes antecedents and consequences of depressive symptoms among Deaf adults. Understanding symptom manifestations and challenges experienced by Deaf patients helps identify those at risk for depression, thereby reducing morbidity and mortality. © 2010 Blackwell Publishing.

  15. Calendar systems and communication of deaf-blind children

    Directory of Open Access Journals (Sweden)

    Jablan Branka

    2012-01-01

    Full Text Available The aim of this paper is to explain the calendar systems and their role in teaching deaf-blind children. Deaf-blind persons belong to a group of multiple disabled persons. This disability should not be observed as a simple composite of visual and hearing impairments, but as a combination of sensory impairments that require special assistance in the development, communication and training for independent living. In our environment, deaf-blind children are being educated in schools for children with visual impairments or in schools for children with hearing impairments (in accordance with the primary impairment. However, deaf-blind children cannot be trained by means of special programs for children with hearing impairment, visual impairment or other programs for students with developmental disabilities without specific attention required by such a combination of sensory impairments. Deaf-blindness must be observed as a multiple impairment that requires special work methods, especially in the field of communication, whose development is severely compromised. Communication skills in deaf-blind people can be developed by using the calendar systems. They are designed in such a manner that they can be easily attainable to children with various sensory impairments. Calendars can be used to encourage and develop communication between adult persons and a deaf-blind child.

  16. THE VALUE SYSTEM IN DEAF POLISH ADOLESCENTS

    Directory of Open Access Journals (Sweden)

    Joanna KOSSEWSKA

    2011-09-01

    Full Text Available Adolescence is the core stage for the development of the value system, one of the most important determinants of the human identity. The issue discussed in this paper is the perception of the value system by the people with impaired hearing who constitute a cultural minority. Such assumption can be made based on the cross-cultural value survey conducted by S.H. Schwartz. The Schwartz’s approach was chosen in this research to measure the culture on individual level.Sixty-six deaf adolescent students from secondary residential schools aged between15 and 20 years (29 male, 37 female and 93 hearing students from boarding middle schools aged between 15 and 17 years (39 male and 54 female were tested by using the Schwartz Portrait Values Questionnaire.The results showed that the intergroup value system differences were modified by gender. Hearing adolescent males considered bene­volence, hedonism and stimulation as more important than female adolescents did. In the deaf subgroup, the females valued security, power and achievement more than males. The mode of communication within the family had only one significant effect: the use of signing language implies significantly higher level of conformity in comparison to the people who communicate verbally.

  17. The education of the deaf from exclusion to inclusion

    Directory of Open Access Journals (Sweden)

    Mª Carmen Gómez Gómez

    2018-04-01

    Full Text Available The education of deaf students normally begins to be studied from Ponce de Leon in a monastery of Burgos; but until this moment people with hearing loss or deafness have had moments in history with more or less acceptance. In primitive societies both could be protected as repudiated , depending on whether the deafness was considered a punishment or a gift of God holder . Over time , history has continued to generate periods of more or less accepted to be people, but especially after the Middle Ages and the eighteenth century past has been where most progress has been made towards integration and inclusion.

  18. Hearing children of Deaf parents: Gender and birth order in the delegation of the interpreter role in culturally Deaf families.

    Science.gov (United States)

    Moroe, Nomfundo F; de Andrade, Victor

    2018-01-01

    Culturally, hearing children born to Deaf parents may have to mediate two different positions within the hearing and Deaf cultures. However, there appears to be little written about the experiences of hearing children born to Deaf parents in the South African context. This study sought to investigate the roles of children of Deaf adults (CODAs) as interpreters in Deaf-parented families, more specifically, the influence of gender and birth order in language brokering. Two male and eight female participants between the ages of 21 and 40 years were recruited through purposive and snowball sampling strategies. A qualitative design was employed and data were collected using a semi-structured, open-ended interview format. Themes which emerged were analysed using thematic analysis. The findings indicated that there was no formal assignment of the interpreter role; however, female children tended to assume the role of interpreter more often than the male children. Also, it appeared as though the older children shifted the responsibility for interpreting to younger siblings. The participants in this study indicated that they interpreted in situations where they felt they were not developmentally or emotionally ready, or in situations which they felt were better suited for older siblings or for siblings of another gender. This study highlights a need for the formalisation of interpreting services for Deaf people in South Africa in the form of professional interpreters rather than the reliance on hearing children as interpreters in order to mediate between Deaf and hearing cultures.

  19. Hearing children of Deaf parents: Gender and birth order in the delegation of the interpreter role in culturally Deaf families

    Science.gov (United States)

    de Andrade, Victor

    2018-01-01

    Background Culturally, hearing children born to Deaf parents may have to mediate two different positions within the hearing and Deaf cultures. However, there appears to be little written about the experiences of hearing children born to Deaf parents in the South African context. Objective This study sought to investigate the roles of children of Deaf adults (CODAs) as interpreters in Deaf-parented families, more specifically, the influence of gender and birth order in language brokering. Method Two male and eight female participants between the ages of 21 and 40 years were recruited through purposive and snowball sampling strategies. A qualitative design was employed and data were collected using a semi-structured, open-ended interview format. Themes which emerged were analysed using thematic analysis. Results The findings indicated that there was no formal assignment of the interpreter role; however, female children tended to assume the role of interpreter more often than the male children. Also, it appeared as though the older children shifted the responsibility for interpreting to younger siblings. The participants in this study indicated that they interpreted in situations where they felt they were not developmentally or emotionally ready, or in situations which they felt were better suited for older siblings or for siblings of another gender. Conclusion This study highlights a need for the formalisation of interpreting services for Deaf people in South Africa in the form of professional interpreters rather than the reliance on hearing children as interpreters in order to mediate between Deaf and hearing cultures. PMID:29850437

  20. An unhappy and utterly pitiable creature? Life and self images of Deaf people in the Netherlands at the time of the founding fathers of Deaf education

    NARCIS (Netherlands)

    Tellings, A.E.J.M.; Tijsseling, C.

    2005-01-01

    This article describes how young deaf people in the Netherlands between 1809 and 1828 made the transition from living in a school for the Deaf,1 a rather protected community with mostly deaf people and with hearing people who could understand them rather well, to a life in hearing society with

  1. Deaf: A Concept Analysis From a Cultural Perspective Using the Wilson Method of Concept Analysis Development.

    Science.gov (United States)

    Pendergrass, Kathy M; Newman, Susan D; Jones, Elaine; Jenkins, Carolyn H

    2017-07-01

    The purpose of this article is to provide an analysis of the concept Deaf to increase health care provider (HCP) understanding from a cultural perspective. Deaf signers, people with hearing loss who communicate primarily in American Sign Language (ASL), generally define the term Deaf as a cultural heritage. In the health care setting, the term deaf is most often defined as a pathological condition requiring medical intervention. When HCPs are unaware that there are both cultural and pathological views of hearing loss, significant barriers may exist between the HCP and the Deaf individual. The concept of Deaf is analyzed using the Wilsonian method. Essential elements of the concept "Deaf" from a cultural perspective include a personal choice to communicate primarily in ASL and identify with the Deaf community. Resources for HCPs are needed to quickly identify Deaf signers and provide appropriate communication.

  2. The peculiar needs of deaf people: a study of selected members of the Lincolnshire deaf social group

    OpenAIRE

    Jones, K.

    1989-01-01

    In spite of the fact that services for deaf people have been provided since Victorian times, there is no "philosophy of deafness" and services are based upon the subjective observation of deaf people by "hearing" people. This study seeks to formulate such a philosophy, for those unable to hear spoken communication from birth or early childhood, based upon acceptance of the social limitations of being unable to hear in a society where the ready use of that sense is taken for granted.\\ud \\ud In...

  3. Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

    DEFF Research Database (Denmark)

    Freude, Kristine; Hoffmann, Kirsten; Jensen, Lars-Riff

    2004-01-01

    Nonsyndromic X-linked mental retardation (NSXLMR) is a very heterogeneous condition, and most of the underlying gene defects are still unknown. Recently, we have shown that approximately 30% of these genes cluster on the proximal Xp, which prompted us to perform systematic mutation screening...

  4. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa

    NARCIS (Netherlands)

    Pierrache, Laurence H. M.; Hartel, Bas P.; van Wijk, Erwin; Meester-Smoor, Magda A.; Cremers, Frans P. M.; de Baere, Elfride; de Zaeytijd, Julie; van Schooneveld, Mary J.; Cremers, Cor W. R. J.; Dagnelie, Gislin; Hoyng, Carel B.; Bergen, Arthur A.; Leroy, Bart P.; Pennings, Ronald J. E.; van den Born, L. Ingeborgh; Klaver, Caroline C. W.

    2016-01-01

    USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. We studied genotype-phenotype correlations and compared visual prognosis in Usher syndrome type IIa and nonsyndromic RP. Clinic-based, longitudinal, multicenter study.

  5. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa

    NARCIS (Netherlands)

    Pierrache, Laurence H M; Hartel, Bas P; van Wijk, Erwin; Meester-Smoor, Magda A; Cremers, Frans P M; de Baere, Elfride; de Zaeytijd, Julie; van Schooneveld, Mary J; Cremers, Cor W R J; Dagnelie, Gislin; Hoyng, Carel B; Bergen, Arthur A; Leroy, Bart P; Pennings, Ronald J E; van den Born, L Ingeborgh; Klaver, Caroline C W

    2016-01-01

    PURPOSE: USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. We studied genotype-phenotype correlations and compared visual prognosis in Usher syndrome type IIa and nonsyndromic RP. DESIGN: Clinic-based, longitudinal,

  6. The contribution of phonological knowledge, memory, and language background to reading comprehension in deaf populations

    Science.gov (United States)

    Hirshorn, Elizabeth A.; Dye, Matthew W. G.; Hauser, Peter; Supalla, Ted R.; Bavelier, Daphne

    2015-01-01

    While reading is challenging for many deaf individuals, some become proficient readers. Little is known about the component processes that support reading comprehension in these individuals. Speech-based phonological knowledge is one of the strongest predictors of reading comprehension in hearing individuals, yet its role in deaf readers is controversial. This could reflect the highly varied language backgrounds among deaf readers as well as the difficulty of disentangling the relative contribution of phonological versus orthographic knowledge of spoken language, in our case ‘English,’ in this population. Here we assessed the impact of language experience on reading comprehension in deaf readers by recruiting oral deaf individuals, who use spoken English as their primary mode of communication, and deaf native signers of American Sign Language. First, to address the contribution of spoken English phonological knowledge in deaf readers, we present novel tasks that evaluate phonological versus orthographic knowledge. Second, the impact of this knowledge, as well as memory measures that rely differentially on phonological (serial recall) and semantic (free recall) processing, on reading comprehension was evaluated. The best predictor of reading comprehension differed as a function of language experience, with free recall being a better predictor in deaf native signers than in oral deaf. In contrast, the measures of English phonological knowledge, independent of orthographic knowledge, best predicted reading comprehension in oral deaf individuals. These results suggest successful reading strategies differ across deaf readers as a function of their language experience, and highlight a possible alternative route to literacy in deaf native signers. Highlights: 1. Deaf individuals vary in their orthographic and phonological knowledge of English as a function of their language experience. 2. Reading comprehension was best predicted by different factors in oral deaf and

  7. Early Interactions with Children Who Are Deaf-Blind

    Science.gov (United States)

    ... of Deaf-Blind Education Transition to Adulthood > Transition Self Determination Person Centered Planning Postsecondary Education Independent Living Employment Customized Employment Sex Education Adult Services Technology Personnel > Intervener Services Support ...

  8. Genetics Home Reference: autosomal dominant cerebellar ataxia, deafness, and narcolepsy

    Science.gov (United States)

    ... may help regulate nerve cell (neuron) maturation and specialization (differentiation), the ability of neurons to move (migrate) ... Ataxia Foundation National Sleep Foundation University of Kansas Medical Center Resource List: Deafness and Hard of Hearing ...

  9. Skilled deaf readers have an enhanced perceptual span in reading.

    Science.gov (United States)

    Bélanger, Nathalie N; Slattery, Timothy J; Mayberry, Rachel I; Rayner, Keith

    2012-07-01

    Recent evidence suggests that, compared with hearing people, deaf people have enhanced visual attention to simple stimuli viewed in the parafovea and periphery. Although a large part of reading involves processing the fixated words in foveal vision, readers also utilize information in parafoveal vision to preprocess upcoming words and decide where to look next. In the study reported here, we investigated whether auditory deprivation affects low-level visual processing during reading by comparing the perceptual span of deaf signers who were skilled and less-skilled readers with the perceptual span of skilled hearing readers. Compared with hearing readers, the two groups of deaf readers had a larger perceptual span than would be expected given their reading ability. These results provide the first evidence that deaf readers' enhanced attentional allocation to the parafovea is used during complex cognitive tasks, such as reading.

  10. Compounding the Challenge: Young Deaf Children and Learning Disabilities.

    Science.gov (United States)

    Mauk, Gary W.; Mauk, Pamela P.

    1993-01-01

    This paper presents a definition of deaf and hard of hearing children with learning disabilities; notes the incidence of children with both disabilities; outlines roadblocks to learning; describes screening, diagnosis, and assessment practices; and offers suggestions for educational programming. (JDD)

  11. Genetics Home Reference: renal tubular acidosis with deafness

    Science.gov (United States)

    ... adults with renal tubular acidosis with deafness have short stature, and many develop kidney stones. The metabolic acidosis ... enlarged vestibular aqueduct, can be seen with medical imaging. The vestibular aqueduct is a bony canal that ...

  12. Testicular cancer knowledge among deaf and hearing men.

    Science.gov (United States)

    Sacks, Loren; Nakaji, Melanie; Harry, Kadie M; Oen, Marcia; Malcarne, Vanessa L; Sadler, Georgia Robins

    2013-09-01

    Testicular cancer typically affects young and middle-aged men. An educational video about prostate and testicular cancer was created in American Sign Language, with English open captioning and voice overlay, so that it could be viewed by audiences of diverse ages and hearing characteristics. This study recruited young Deaf (n = 85) and hearing (n = 90) adult males to help evaluate the educational value of the testicular cancer portion of this video. Participants completed surveys about their general, testicular, and total cancer knowledge before and after viewing the video. Although hearing men had higher pre-test scores than Deaf men, both Deaf and hearing men demonstrated significant increases in General, Testicular, and Total Cancer Knowledge scores after viewing the intervention video. Overall, results demonstrate the value of the video to Deaf and hearing men.

  13. Hearing impairment and deafness among HIV infected children and ...

    African Journals Online (AJOL)

    Hearing impairment and deafness among HIV infected children and adolescents in Harare, Zimbabwe. C Chidziva, J Matsekete, T Bandason, S Shamu, T Dzongodza, N Matinhira, HA Mujuru, C Kunzekwenyika, M Wellington, R Luthy, C Prescott, RA Ferrand ...

  14. Acute cortical deafness in a child with MELAS syndrome.

    Science.gov (United States)

    Pittet, Marie P; Idan, Roni B; Kern, Ilse; Guinand, Nils; Van, Hélène Cao; Toso, Seema; Fluss, Joël

    2016-05-01

    Auditory impairment in mitochondrial disorders are usually due to peripheral sensorineural dysfunction. Central deafness is only rarely reported. We report here an 11-year-old boy with MELAS syndrome who presented with subacute deafness after waking up from sleep. Peripheral hearing loss was rapidly excluded. A brain MRI documented bilateral stroke-like lesions predominantly affecting the superior temporal lobe, including the primary auditory cortex, confirming the central nature of deafness. Slow recovery was observed in the following weeks. This case serves to illustrate the numerous challenges caused by MELAS and the unusual occurrence of acute cortical deafness, that to our knowledge has not be described so far in a child in this setting.

  15. Knowledge of display rules in prelingually deaf and hearing children.

    Science.gov (United States)

    Hosie, J A; Russell, P A; Gray, C D; Scott, C; Hunter, N; Banks, J S; Macaulay, M C

    2000-03-01

    Deaf children of elementary and secondary school age participated in a study designed to examine their understanding of display rules, the principles governing the expression and concealment of emotion in social situations. The results showed that deaf children's knowledge of display rules, as measured by their reported concealment of emotion, was comparable to that of hearing children of the same age. However, deaf children were less likely to report that they would conceal happiness and anger. They were also less likely to produce reasons for concealing emotion and a smaller proportion of their reasons were prosocial, that is, relating to the feelings of others. The results suggest that the understanding of display rules (which function to protect the feelings of other people) may develop more gradually in deaf children raised in a spoken language environment than it does in hearing children.

  16. Deafness genes in Israel: implications for diagnostics in the clinic.

    Science.gov (United States)

    Brownstein, Zippora; Avraham, Karen B

    2009-08-01

    The identification of the molecular basis of deafness in the last decade has made a remarkable impact on genetic counseling and diagnostics for the hearing impaired population. Since the discovery of the most prevalent form of deafness associated with mutations in the GJB2 (connexin 26) gene, many other genes have been found worldwide, with a subset of these, including unique mutations, in Israel. Here, we review the current status of deafness genes in Israel and report one known mutation in a syndromic form of deafness, Usher syndrome, described in the Jewish Israeli population for the first time. In the future, the identification of specific mutations may be relevant for specific types of treatment.

  17. Targeted scan of fifteen regions for nonsyndromic cleft lip and palate in Filipino families.

    Science.gov (United States)

    Schultz, R E; Cooper, M E; Daack-Hirsch, S; Shi, M; Nepomucena, B; Graf, K A; O'Brien, E K; O'Brien, S E; Marazita, M L; Murray, J C

    2004-02-15

    Cleft lip with or without cleft palate (CL/P) is a congenital anomaly with variable birth prevalence based on geographic origins, with the highest rates commonly found in Asian populations. About 70% of cases are nonsyndromic (NS), in which the affected individual has no other abnormalities. NS CL/P is a complex disorder with genetic and environmental effects and no specific genetic loci yet confirmed. Fifteen candidate regions were examined for linkage to NS CL/P. Regions were chosen based on previous suggestive linkage and/or association in human families, or suggestive animal model data. Polymorphic markers in these regions were genotyped for analysis on 36 Filipino families comprised of 126 affected and 218 unaffected individuals. An additional 70 families with 149 affecteds were used for replication of suggestive results. Parametric (LOD score) and nonparametric (SIMIBD) linkage analyses were performed as well as transmission disequilibrium test (TDT) analysis. Five markers yielded suggestive results from the 36 families. The parametric LOD scores for the MSX1-CA and D4S1629 were >1.0 and the SIMIBD P values for D6S1029 and RFC1 are suggestive (value of 0.01 for TGFA was significant. Since the Msx1 mouse knockout has cleft palate and MSX1 mutations have been found in rare cases of syndromic CL/P, this locus is especially plausible for linkage. Previous studies have also found linkage of NS CL/P to 4q31 and 6p23. These regions contain several candidate genes, including AP2 at 6p23 and FGF2, BMPR1B, and MADH1 at 4q31. TGFA has both linkage and linkage disequilibrium data supporting it as a candidate gene for NS CL/P. While no region was definitively confirmed for linkage to NS CL/P, the data do support further investigation using larger sample sizes and candidate gene studies at 2p13.2, 4p16.2, 4q31, 6p23, and 16q22-24. Copyright 2003 Wiley-Liss, Inc.

  18. [Application of MALDI-TOF-MS in gene testing for non-syndromic hearing loss].

    Science.gov (United States)

    Zeng, Yun; Jiang, Dan; Feng, Da-fei; Jin, Dong-dong; Wu, Xiao-hui; Ding, Yan-li; Zou, Jing

    2013-12-01

    To investigate the feasibility of Matrix-Assisted Laser Desorption-Ionization Time of Flight Mass Spectrometry (MALDI-TOF-MS) , according to the genetic test of non-syndromic hearing loss (NSHL), and check using the direct sequencing. Peripheral blood was collected from 454 NSHL patients. DNA samples were extracted and 20 loci of the four common disease-causing genes were analysed by MALDI-TOF-MS, including GJB2 (35delG, 167delT, 176_191del16, 235delC, 299_300delAT ), GJB3 (538C→T, 547G→A), SLC26A4 (281C→T, 589G→A, IVS7-2A→G, 1174A→T, 1226G→A, 1229C→T, IVS15+5G→A, 1975G→C, 2027T→A, 2162C→T, 2168A→G), and mitochondrial 12S rRNA (1494C→T, 1555A→G). Direct sequencing was also used to analyse the aforementioned 20 loci in order to validate the accuracy of MALDI-TOF-MS. Among the 454 patients, 166 cases (36.56%) of disease-causing mutations were detected, which included 69 cases (21.15%) of GJB2 gene mutation, four cases (0.88%) of GJB3 gene mutation, 64 cases (14.10%) of SLC26A4 gene mutation, and three cases (0.66%) of mitochondrial 12S rRNA gene mutation. Moreover, the results obtained from direct sequencing and MALDI-TOF-MS were consistent, and the results showed that the two methods were consistent. The MALDI-TOF-MS detection method was designed based on the hearing loss-related mutation hotspots seen in the Chinese population, and it has a high detection rate for NSHL related mutations. In comparison to the conventional detection methods, MALDI-TOF-MS has the following advantages: more detection sites, greater coverage, accurate, high throughput and low cost. Therefore, this method is capable of satisfying the needs of clinical detection for hearing impairment and it is suitable for large-scale implementation.

  19. Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF

    OpenAIRE

    Smith, S.; Kelley, P.; Kenyon, J.; Hoover, D.

    2000-01-01

    Patients with Tietz syndrome have congenital profound deafness and generalised hypopigmentation, inherited in a fully penetrant autosomal dominant fashion. The pigmentary features and complete penetrance make this syndrome distinct among syndromes with pigmentary anomalies and deafness, which characteristically have patchy depigmentation and variable penetrance. Only one family has been reported with the exact features described in the original report of this syndrome. This family was reascer...

  20. Caring for patients who are deaf or hard of hearing.

    Science.gov (United States)

    Brown, Heather L; Hughes-Bell, Aileen; McDuffie, Anna W

    2015-12-01

    Patients who are deaf and hard of hearing often find the American healthcare system to be inaccessible due to communication barriers. This article describes facilities' and providers' requirements under the Americans with Disabilities Act to provide qualified interpreters and other assistive devices to patients who are deaf or hard of hearing. Removing communication barriers can protect healthcare providers from potential legal action and lets them deliver consistent, quality healthcare to all patients.

  1. A Danish family with dominant deafness-onychodystrophy syndrome

    DEFF Research Database (Denmark)

    Vind-Kezunovic, Dina; Torring, Pernille M

    2013-01-01

    The rare hereditary disorder "dominant deafness and onychodystrophy (DDOD) syndrome" (OMIM 124480) has been described in a few case reports. No putative DDOD gene or locus has been mapped and the cause of the disorder remains unknown.......The rare hereditary disorder "dominant deafness and onychodystrophy (DDOD) syndrome" (OMIM 124480) has been described in a few case reports. No putative DDOD gene or locus has been mapped and the cause of the disorder remains unknown....

  2. Employment Status of the Members of Tehran Deaf Community

    Directory of Open Access Journals (Sweden)

    Shahrooz nemati

    2011-09-01

    Full Text Available Background and Aim: Regarding the importance of employment in social and emotional status of individuals, it would be important for the deaf. The purpose of the present study was to assess the employment status of the members of Tehran deaf community.Methods: This descriptive study was performed on all members of Tehran deaf community. A researchers-made questionnaire which had three parts (demographic information, employment status of the deaf members and their attitudes regarding employment was used in this study. The obtained data were analyzed using descriptive methods.Results: Majority of deaf community members were adult (ages ranging between 18 and 30. Sixty-eight of them (52.5% were female and 53 (47.5% were male, from our participants, 56.2% were unemployed and 43.8% were employed. Main problems were: having no access to facilities regarding their disability (14.5%, communication problems (9.4%, lower salaries because of their disability (12.4%, being far from the working place (15.4%, disproportion of working environment to their disability (11.4%, maltreatment of their coworkers (13.2%, maltreatment of their employer (12.5% and discrimination because of their disability (11.2%, the attitudes of the deaf members were positive regarding the employment in all areas: 90% of them considered it as an essential part of life versus 10% of them mentioned not very important issue.Conclusion: Our findings showed that most of the deaf were supported by their family members, but not by the social facilities or their past education. The social policies should be reformed to support employment of the deaf.

  3. Deaf-Blind Interpreting: Building on What You Already Know

    OpenAIRE

    Petronio, Karen

    2010-01-01

    http://dx.doi.org/10.5007/2175-7968.2010v2n26p237 This article focuses on visual considerations and describes the numerous similarities between video interpreting and deaf-blind interpreting. It also looks at linguistic considerations for deaf-blind interpreting and presents research findings showing similarities and differences between ASL and Tactile ASL. Because many interpreters are unfamiliar with tactile communication, there is a section that includes an overview of Tactile ASL. The...

  4. Deaf New Zealand Sign Language users' access to healthcare.

    Science.gov (United States)

    Witko, Joanne; Boyles, Pauline; Smiler, Kirsten; McKee, Rachel

    2017-12-01

    The research described was undertaken as part of a Sub-Regional Disability Strategy 2017-2022 across the Wairarapa, Hutt Valley and Capital and Coast District Health Boards (DHBs). The aim was to investigate deaf New Zealand Sign Language (NZSL) users' quality of access to health services. Findings have formed the basis for developing a 'NZSL plan' for DHBs in the Wellington sub-region. Qualitative data was collected from 56 deaf participants and family members about their experiences of healthcare services via focus group, individual interviews and online survey, which were thematically analysed. Contextual perspective was gained from 57 healthcare professionals at five meetings. Two professionals were interviewed, and 65 staff responded to an online survey. A deaf steering group co-designed the framework and methods, and validated findings. Key issues reported across the health system include: inconsistent interpreter provision; lack of informed consent for treatment via communication in NZSL; limited access to general health information in NZSL and the reduced ability of deaf patients to understand and comply with treatment options. This problematic communication with NZSL users echoes international evidence and other documented local evidence for patients with limited English proficiency. Deaf NZSL users face multiple barriers to equitable healthcare, stemming from linguistic and educational factors and inaccessible service delivery. These need to be addressed through policy and training for healthcare personnel that enable effective systemic responses to NZSL users. Deaf participants emphasise that recognition of their identity as members of a language community is central to improving their healthcare experiences.

  5. Empathy and Theory of Mind in Deaf and Hearing Children.

    Science.gov (United States)

    Peterson, Candida C

    2016-04-01

    Empathy (or sharing another's emotion) and theory of mind (ToM: the understanding that behavior is guided by true and false beliefs) are cornerstones of human social life and relationships. In contrast to ToM, there has been little study of empathy's development, especially in deaf children. Two studies of a total of 117 children (52 hearing; 65 deaf children of hearing parents) aged 4-13 years were therefore designed to (a) compare levels of empathy in deaf and hearing children, and (b) explore correlations of ToM with empathy in deaf and hearing groups. Results showed that (a) deaf children scored lower in empathy than their hearing peers and (b) empathy and ToM were significantly correlated for deaf children but not for the hearing. Possible reasons for these divergent developmental patterns were considered, along with implications for future research. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  6. Confronting the language barrier: Theory of mind in deaf children.

    Science.gov (United States)

    Jones, Anna C; Gutierrez, Roberto; Ludlow, Amanda K

    2015-01-01

    The current study addressed deaf children's Theory of Mind (ToM) development as measured by a battery of first- and second-order belief tasks. Both a chronological age-matched control group and a younger group of pre-school aged hearing children were compared to a group of deaf children born to hearing parents. A hearing native signer enacted each of the tasks, which were pre-recorded in video clips in English (SSE), British Sign Language (BSL) and spoken English, in order to consider all communication preferences of the deaf children. Results revealed no differences in performance between the deaf and the young hearing children. However, despite the inclusion of ToM tasks based on their preferred mode of communication, the deaf children performed significantly worse at the unexpected-content and second-order belief task compared with their age-matched controls. These findings imply a delay rather than a deficit in ToM in deaf children that could be attributed to limited opportunities to converse and overhear conversations about mental states. None. Crown Copyright © 2015. Published by Elsevier Inc. All rights reserved.

  7. Assessing Health Literacy in Deaf American Sign Language Users

    Science.gov (United States)

    McKee, Michael M.; Paasche-Orlow, Michael; Winters, Paul C.; Fiscella, Kevin; Zazove, Philip; Sen, Ananda; Pearson, Thomas

    2015-01-01

    Communication and language barriers isolate Deaf American Sign Language (ASL) users from mass media, healthcare messages, and health care communication, which when coupled with social marginalization, places them at a high risk for inadequate health literacy. Our objectives were to translate, adapt, and develop an accessible health literacy instrument in ASL and to assess the prevalence and correlates of inadequate health literacy among Deaf ASL users and hearing English speakers using a cross-sectional design. A total of 405 participants (166 Deaf and 239 hearing) were enrolled in the study. The Newest Vital Sign was adapted, translated, and developed into an ASL version of the NVS (ASL-NVS). Forty-eight percent of Deaf participants had inadequate health literacy, and Deaf individuals were 6.9 times more likely than hearing participants to have inadequate health literacy. The new ASL-NVS, available on a self-administered computer platform, demonstrated good correlation with reading literacy. The prevalence of Deaf ASL users with inadequate health literacy is substantial, warranting further interventions and research. PMID:26513036

  8. Disorders of pitch production in tone deafness

    Directory of Open Access Journals (Sweden)

    Simone eDalla Bella

    2011-07-01

    Full Text Available Singing is as natural as speaking for the majority of people. Yet some individuals (i.e., 10-15% are inaccurate singers, typically performing or imitating pitches and melodies inaccurately. This condition, commonly referred to as tone deafness, has been observed both in the presence and absence of deficient pitch perception. In this article we review the existing literature concerning normal singing, poor-pitch singing, and, briefly, the sources of this condition. Considering that pitch plays a prominent role in the structure of both music and speech we also focus on the possibility that pitch production (or imitation is similarly impaired in poor-pitch singers. Preliminary evidence from our laboratory on poor-pitch singing suggests that pitch imitation may be selectively inaccurate in the music domain without being affected in speech. This finding points to separability of mechanisms subserving pitch production in music and language.

  9. Disorders of pitch production in tone deafness.

    Science.gov (United States)

    Bella, Simone Dalla; Berkowska, Magdalena; Sowiński, Jakub

    2011-01-01

    Singing is as natural as speaking for the majority of people. Yet some individuals (i.e., 10-15%) are poor singers, typically performing or imitating pitches and melodies inaccurately. This condition, commonly referred to as "tone deafness," has been observed both in the presence and absence of deficient pitch perception. In this article we review the existing literature concerning normal singing, poor-pitch singing, and, briefly, the sources of this condition. Considering that pitch plays a prominent role in the structure of both music and speech we also focus on the possibility that speech production (or imitation) is similarly impaired in poor-pitch singers. Preliminary evidence from our laboratory suggests that pitch imitation may be selectively inaccurate in the music domain without being affected in speech. This finding points to separability of mechanisms subserving pitch production in music and language.

  10. Disorders of Pitch Production in Tone Deafness

    Science.gov (United States)

    Bella, Simone Dalla; Berkowska, Magdalena; Sowiński, Jakub

    2011-01-01

    Singing is as natural as speaking for the majority of people. Yet some individuals (i.e., 10–15%) are poor singers, typically performing or imitating pitches and melodies inaccurately. This condition, commonly referred to as “tone deafness,” has been observed both in the presence and absence of deficient pitch perception. In this article we review the existing literature concerning normal singing, poor-pitch singing, and, briefly, the sources of this condition. Considering that pitch plays a prominent role in the structure of both music and speech we also focus on the possibility that speech production (or imitation) is similarly impaired in poor-pitch singers. Preliminary evidence from our laboratory suggests that pitch imitation may be selectively inaccurate in the music domain without being affected in speech. This finding points to separability of mechanisms subserving pitch production in music and language. PMID:21811479

  11. Deaf Smith County noise analysis: Revision 2

    International Nuclear Information System (INIS)

    1985-11-01

    An analysis of activities proposed for the three major phases of development of the proposed nuclear waste repository site in Deaf Smith County, Texas, was conducted to quantify the noise levels and the effect of noise resulting from these activities. The report provides additional details of the predictive noise level modeling conducted for the site characterization, repository construction, and repository operation phases. Equivalent day/night sound levels are presented for each phase as sound level contours. Sound levels from onsite and offsite activities are addressed including traffic on access routes, and railroad construction and operation. A description of the predictive models, the analysis methodologies, the noise source inventories, the model outputs, and the evaluation criteria are included. 35 refs., 6 figs., 2 tabs

  12. Personality characteristics and their connection with learning efficiency of deaf and partially deaf pupils in mainstream primary and secondary school

    OpenAIRE

    Kastelic, Helena

    2012-01-01

    This thesis deals with personality characteristics and their connection with learning efficiency of deaf and partially deaf pupils and students in mainstream primary and secondary school. The theoretical part defines learning efficiency and focuses on the most significant factors of learning efficiency, including also personality characteristics of an individual. This thesis represents the idea of inclusion and its advantages and disadvantages and suggests to what extent it is present in our ...

  13. Deaf clubs today: do they still have a role to play? The cases of Cyprus and Greece.

    Science.gov (United States)

    Hadjikakou, Kika; Nikolaraizi, Magda

    2011-01-01

    The present study investigated the current functions of Deaf clubs in Cyprus and in Greece. The researchers conducted in-depth semistructured interviews with 24 Cypriot and 22 Greek deaf individuals ages 19-54 years. The researchers found that the Deaf clubs in both countries provide a gathering place for deaf people, organize social and sport activities, and promote their demands through legislation. In addition, Deaf clubs maintain and transmit Deaf culture and history to future generations, offer Deaf role models to young deaf children and their families, and provide Deaf awareness to hearing people (e.g., through sign languages classes). The study participants also stressed the role of Deaf clubs in deaf people's lives, unity, and prospects for future progress.

  14. Reading motivation, reading amount, and text comprehension in deaf and hearing adults.

    Science.gov (United States)

    Parault, Susan J; Williams, Heather M

    2010-01-01

    The purpose of this study is to examine the relationship between the variables of reading motivation, reading amount, and text comprehension in deaf and hearing adults. Research has shown that less than 50% of deaf students leave high school reading at or above a fourth-grade level (Allen, 1994). Our question is, how does this affect the levels of reading motivation and amount of reading in which deaf adults engage? Assessments of 30 hearing and 24 deaf adults showed that deaf participants reported significantly higher levels of reading motivation despite having been found to read at less than a sixth-grade level. No significant difference in the amount of reading between hearing and deaf adults was found. Amount of reading for personal reasons was found to be the best predictor of text comprehension in the deaf participants, and intrinsic motivation was found to be the best predictor of amount of reading in the deaf participants.

  15. The reality of every day communication for a deaf child using sign ...

    African Journals Online (AJOL)

    Background: Research that focuses on the communication between deaf children and ... texts of a deaf child who uses South African Sign Language (SASL) and who is born into a ..... a single case study, it allowed the researcher to obtain in-.

  16. 77 FR 38128 - Qualification of Drivers; Application for Exemptions; National Association of the Deaf

    Science.gov (United States)

    2012-06-26

    ... DEPARTMENT OF TRANSPORTATION Federal Motor Carrier Safety Administration [Docket No. FMCSA-2012-0154] Qualification of Drivers; Application for Exemptions; National Association of the Deaf AGENCY..., notice requesting public comments on the National Association of the Deaf's (NAD) application for...

  17. 75 FR 10294 - National Institute on Deafness and Other Communication Disorders; Notice of Meeting

    Science.gov (United States)

    2010-03-05

    ... ON DEAFNESS AND OTHER COMMUNICATION DISORDERS, including consideration of personnel qualifications and performance, and the competence of individual investigators, the disclosure of which would... Deafness and Other Communication Disorders; Notice of Meeting Pursuant to section 10(d) of the Federal...

  18. Black deaf individuals' reading skills: influence of ASL, culture, family characteristics, reading experience, and education.

    Science.gov (United States)

    Myers, Candace; Clark, M Diane; Musyoka, Millicent M; Anderson, Melissa L; Gilbert, Gizelle L; Agyen, Selina; Hauser, Peter C

    2010-01-01

    Previous research on the reading abilities of Deaf individuals from various cultural groups suggests that Black Deaf and Hispanic Deaf individuals lag behind their White Deaf peers. The present study compared the reading skills of Black Deaf and White Deaf individuals, investigating the influence of American Sign Language (ASL), culture, family characteristics, reading experience, and education. (The descriptor Black is used throughout the present article, as Black Deaf individuals prefer this term to African American. For purposes of parallel construction, the term White is used instead of European American.) It was found that Black Deaf study participants scored lower on measures of both reading and ASL. These findings provide implications for possible interventions at the primary, secondary, and college levels of education.

  19. 78 FR 57167 - National Institute on Deafness and Other Communication Disorders; Notice of Closed Meetings

    Science.gov (United States)

    2013-09-17

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute on Deafness and Other Communication Disorders; Notice of Closed Meetings Pursuant to section 10(d) of the... Deafness and Other Communication [[Page 57168

  20. Early postnatal development of the mandible in children with isolated cleft palate and children with nonsyndromic Robin sequence

    DEFF Research Database (Denmark)

    Eriksen, J.; Hermann, N.V.; Darvann, Tron Andre

    2006-01-01

    Objective: Analysis of early postnatal mandibular size and growth velocity in children with untreated isolated cleft palate (ICP), nonsyndromic Robin sequence (RS), and a control group of children with unilateral incomplete cleft lip (UICL). Material: 114 children (66 isolated cleft palate, 7 Robin...... and mandibular growth velocity (mm/year) was calculated. Cleft width was measured on the casts at 2 months of age. Results: Mean mandibular length and posterior height were significantly smaller in isolated cleft palate and Robin sequence, compared with unilateral incomplete cleft lip. Mandibular length in Robin...... sequence was also significantly shorter, compared with isolated cleft palate. No significant difference was found between mean mandibular growth velocities in the three groups. No significant correlation was found between mandibular length and cleft width in either isolated cleft palate or Robin sequence...

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

    DEFF Research Database (Denmark)

    Nyegaard, Mette; Rendtorff, Nanna D; Nielsen, Morten S

    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......-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 (YXX phi). In whole blood from an affected individual, we found by RT-PCR both the wild...

  2. Multiple tooth anomalies in a nonsyndromic patient with class II division 2 malocclusions: A case report and a literature review.

    Science.gov (United States)

    Isman, E; Isman, O; Aktan, A M; Ciftci, E; Topcuoglu, T

    2015-01-01

    Reports in the literature about the craniofacial characteristics of patients with class II division 2 malocclusions show a lot of different patterns accompanied by palatally displaced upper incisors, congenital missing teeth, polydiastema, fusion, germination, tooth impaction, peg-shaped lateral incisors, persistent teeth, hypodontia, persistent deciduous teeth, transpositions, and supernumerary teeth. The following case report focuses on the description of the clinical characteristics observed on a patient with a very unusual conjunction of dental and skeletal anomalies mentioned above, as well as a literature review on the related issues. Extra-intra-oral examinations, radiographic evaluations, orthodontic consultation, and reviewing the literature concluded that this nonsyndromic patient that refused to receive all dental treatment approaches is special with its uniqueness.

  3. A Comparative Study of Facial Asymmetry in Philippine, Colombian, and Ethiopian Families with Nonsyndromic Cleft Lip Palate

    Directory of Open Access Journals (Sweden)

    Liliana Otero

    2012-01-01

    Full Text Available Objective. To compare the asymmetry displayed by Philippine, Colombian, and Ethiopian unaffected parents of patients with nonsyndromic cleft palate (NSCLP and a control population. Methods. Facial measurements were compared between unaffected parents of NSCLP patients and those in the control group for three populations from South America, Asia, and Africa by anthropometric and photographic measurements. Fluctuating and directional asymmetries, height and width proportions, were analyzed and compared. Results. Fluctuating asymmetries (ear length, middle line to Zigion perpendicular for left and right sides and variations in the facial thirds demonstrated statistical significance in the study group of unaffected parents from Colombia and Philippines, while increased interorbital distance was evident in the unaffected Ethiopian parents of NSCLP patients. Conclusions. The facial differences in unaffected parents could indicate an underlying genetic liability. Identification of these differences has relevance in the understanding of the etiology of NSCLP.

  4. Deaf children's use of clear visual cues in mindreading.

    Science.gov (United States)

    Hao, Jian; Su, Yanjie

    2014-11-01

    Previous studies show that typically developing 4-year old children can understand other people's false beliefs but that deaf children of hearing families have difficulty in understanding false beliefs until the age of approximately 13. Because false beliefs are implicit mental states that are not expressed through clear visual cues in standard false belief tasks, the present study examines the hypothesis that the deaf children's developmental delay in understanding false beliefs may reflect their difficulty in understanding a spectrum of mental states that are not expressed through clear visual cues. Nine- to 13-year-old deaf children of hearing families and 4-6-year-old typically developing children completed false belief tasks and emotion recognition tasks under different cue conditions. The results indicated that after controlling for the effect of the children's language abilities, the deaf children inferred other people's false beliefs as accurately as the typically developing children when other people's false beliefs were clearly expressed through their eye-gaze direction. However, the deaf children performed worse than the typically developing children when asked to infer false beliefs with ambiguous or no eye-gaze cues. Moreover, the deaf children were capable of recognizing other people's emotions that were clearly conveyed by their facial or body expressions. The results suggest that although theory-based or simulation-based mental state understanding is typical of hearing children's theory of mind mechanism, for deaf children of hearing families, clear cue-based mental state understanding may be their specific theory of mind mechanism. Copyright © 2014 Elsevier Ltd. All rights reserved.

  5. Investigating how high school deaf students spend their leisure time

    Directory of Open Access Journals (Sweden)

    Allahyar Arabmomeni

    2012-09-01

    Full Text Available This paper presents an investigation on deaf students' interests in spending their leisure times. We design a questionnaire and distribute among all deaf students who are enrolled in high schools in two provinces of Iran. The questionnaire consists of three parts, in the first part, we ask female and male deaf students about their interests in various entertainment activities in Likert scale. In terms of gender, we find out that walking inside or outside house is number one favorite exercise for female students while male students mostly prefer to walk on the streets. Although male students prefer to go biking or running activities, female students prefer to go for picnic or similar activities. This could be due to limitations on female for running or biking inside cities. While going to picnic with members of family or friends is the third popular activity for male students, stretching exercises is third most popular activity among female students. Breathing exercise is the fourth most popular activity among both male and female students. The second part of the survey is associated with the barriers for having no exercise among deaf students. According to our survey, while lack of good attention from public and ordinary people on exercising deaf students is believed to be number one barrier among male students, female students blame lack of transportation facilities as the most important barrier. However, both female and male students believe these two items are the most important factors preventing them to exercise. Lack of awareness for exercising deaf students and lack of good recreational facilities are the third most important barriers among male and female students. The last part of the survey attempted to detect important entertainment activities. Watching TV, entertaining with mobile devices, chatting with friends and watching DVD or movies were the most important items influencing deaf students' free times.DOI: 10.5267/j.msl.2012

  6. Long QT in children with congenital deafness: a brief report

    Directory of Open Access Journals (Sweden)

    Naseraldin Akbari Asbagh

    2013-08-01

    Full Text Available Background: Long QT syndromes (LQT are genetic abnormalities of ventricular repo-larization, with an estimated incidence of about one per 10000 births. It is characterized by prolongation of the QT interval in electrocardiogram (EKG and associated with a high risk for syncope and sudden death in patients. Type of this syndrome is association with congenital deafness. Our objective was to evaluate QT interval in children with congenital deafness.Methods: For 219 patients referred to Imam Khomeini Hospital audiometric clinic in 2011, questionnaire were completed. A total of 23 congenitally deaf children were incl-uded. All patients’ examinations were done by a pediatric cardiologist. Electrocardio-gram is conducted in all children (23 patients with sever and deep congenital deafness. Then the QT interval was measured based on Bazett’s formula. Echocardiography was also performed in these children to assess left ventricular function and the presence of mitral valve prolapse.Results: The overall patients were two hundred and nineteen children. A total of twenty three congenitally deaf children were included and electrocardiogram was obtained. Three children had obviously prolonged QTc (0.48±0.02 second. The median age of them was 6.1±5 year, the median weight was 18±11.3 kilogram and the median of QT interval was 0.48±0.02 second.Conclusion: The QT interval obtained 0.48±0.02 second. In the present study we found prolonged QT in congenital deafness, thus we recommend to evaluate the electrocardio-gram of children with congenital deafness.

  7. LATENT STRUCTURE OF MOTOR ABILITIES AND SKILLS OF DEAF CHILDREN

    Directory of Open Access Journals (Sweden)

    Husnija Hasanbegović

    2012-04-01

    Full Text Available In this work surveys of latent motility abilities and skills of school children are shown. The sample for this survey was consisted of two subsamples. First one has consisted of deaf children N=29, and the second one has consisted hearing children of same age N=69. Subsamples of deaf is chosen according to model of applied sample, and subsample is chosen randomly, so two stages group sample N=90 has been created. After quantitative differences have been discovered between subsamples, hearing pupils have shown statistically better results at motility skills and techniques than deaf children and cumulative results have been subjected to inter correlation of variables. The target of using this method was determination of saturation of common variability through saturation of variables and their correlation by Ortoblique rotation for determination of latent information that are going to serve as practical guides at education and deaf children treatment, because of improvement of their motility abilities and skills according to hearing children. Three factors have been singled out as main preview of measurement on manifest variables. According to first review of measuring it has been established that at deaf children is needed to work on improving of physical abilities and mobility and then developed motility abilities and skills. Their information has been gained most probably by non system fluctuations as information about ability of balance maintaining which is most probably non dependable of motility abilities and skills as at deaf and hearing children too. According to this survey by entering the structure of measuring instrument it is possible to create programs for improving motility abilities and skills at deaf children.

  8. Subtitling for deaf children: Granting accessibility to audiovisual programmes in an educational way

    OpenAIRE

    Zarate, S.

    2014-01-01

    This thesis is a contribution towards the subtitling practice of audiovisual programmes for deaf children. It starts by offering an overview of relevant research on Subtitling for the Deaf and the Hard of Hearing (SDH), conducted both in the UK and abroad. A descriptive and comprehensive study on how children’s programmes broadcast in British television are subtitled for deaf children constitutes the starting point of the project. In an attempt to gain an understanding on how deaf children re...

  9. A critical exploration of deaf young people’s underachievement in Brunei Darussalam

    OpenAIRE

    Haji Shahminan, Hajah Norbayah

    2012-01-01

    This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel University. This study employs qualitative methods to explore the tensions experienced by deaf young people with hearing parents, hearing parents with little or no experience of deafness prior to the birth of their deaf children and language teachers with a lack of skills and knowledge of deafness in the implementation of an inclusive education system in Brunei Darussalam. The empirical evidence I used t...

  10. Comparing the Use of 3D Photogrammetry and Computed Tomography in Assessing the Severity of Single-Suture Nonsyndromic Craniosynostosis.

    Science.gov (United States)

    Ho, Olivia A; Saber, Nikoo; Stephens, Derek; Clausen, April; Drake, James; Forrest, Christopher; Phillips, John

    2017-05-01

    Single-suture nonsyndromic craniosynostosis is diagnosed using clinical assessment and computed tomography (CT). With increasing awareness of the associated risks of radiation exposure, the use of CT is particularly concerning in patients with craniosynostosis since they are exposed at a younger age and more frequently than the average child. Three-dimensional (3D) photogrammetry is advantageous-it involves no radiation, is conveniently obtainable within clinic, and does not require general anaesthesia. This study aims to assess how 3D photogrammetry compares to CT in the assessment of craniosynostosis severity, to quantify surgical outcomes, and analyze the validity of 3D photogrammetry in craniosynostosis. Computed tomography images and 3D photographs of patients who underwent craniosynostosis surgery were assessed and aligned to best fit. The intervening area between the CT and 3D photogrammetry curves at the supraorbital bar (bandeau) level in axial view was calculated. Statistical analysis was performed using Student t test. Ninety-five percent confidence intervals were determined and equivalence margins were applied. In total, 41 pairs of CTs and 3D photographs were analyzed. The 95% confidence interval was 198.16 to 264.18 mm 2 and the mean was 231.17 mm 2 . When comparisons were made in the same bandeau region omitting the temporalis muscle, the 95% confidence interval was 108.94 to 147.38 mm 2 , and the mean was 128.16 mm 2 . Although statistically significant difference between the modalities was found, they can be attributable to the dampening effect of soft tissue. Within certain error margins, 3D photogrammetry is comparable to CT in assessing the severity of single-suture nonsyndromic craniosynostosis. However, a dampening effect can be attributable to the soft tissue. Three-dimensional photogrammetry may be more applicable for severe cases of craniosynostosis but not milder deformity. It may also be beneficial for assessing the overall appearance and

  11. Histologic and immunohistochemical characteristics of cutaneous cysts in Goltz-Gorlin syndrome: clues for differentiation of nonsyndromic cysts.

    Science.gov (United States)

    Tirado, Mariantonieta; Ständer, Sonja; Metze, Dieter

    2014-11-01

    Goltz-Gorlin syndrome presents with multiple basal cell carcinomas, odontogenic keratocysts, and cutaneous cysts, among other manifestations. The cutaneous cysts have been described as both epidermoid cysts and keratocysts but were not further characterized. Light microscopic examinations were made on 23 cutaneous cysts in 4 patients associated with Goltz-Gorlin syndrome located on extremities, face, trunk, palms, and soles and compared with nonsyndromic vellus hair cysts, steatocystomas, and hybrid cysts. Twenty-one of the syndromic cysts revealed alternating infundibular-like and steatocystoma-like squamous epitheliums in varying proportions. The cysts were lined by both smooth and corrugated squamous epithelium. The horny layer was composed by alternating areas of thin, lamellate, and compact eosinophilic keratin. Only 2 cases showed an exclusive steatocystoma-like type of epithelium very similar to odontogenic keratocysts. Sebaceous glands and follicular structures were absent. There were no differences between palmar and plantar cysts and other anatomic locations. The ultrastructural findings in syndromatic cysts confirmed variable expression of keratohyalin granules. Only 3 of 6 cases of nonsyndromic hybrid cysts showed overlapping features with syndromic cysts. Immunohistochemical profiling of keratin, involucrin, filaggrin, loricrin, and BCL-2 expression in syndromatic cysts showed exclusive positivity of K19 and continuous staining for BCL-2. In summary, 2 types of cutaneous cysts are characteristic of Goltz-Gorlin, irrelevant of their anatomic location, namely steatocystoma-like and more frequently hybrid-like. The diagnosis of syndromic hybrid-like cysts should be considered whenever infundibular and steatocystoma differentiation alternate and overlap. Altogether, these findings in epithelial cysts may raise the suspicion of Goltz-Gorlin as an underlying cause.

  12. Evidence for gene-environment interaction in a genome wide study of isolated, non-syndromic cleft palate

    Science.gov (United States)

    Beaty, Terri H.; Ruczinski, Ingo; Murray, Jeffrey C.; Marazita, Mary L.; Munger, Ronald G.; Hetmanski, Jacqueline B.; Murray, Tanda; Redett, Richard J.; Fallin, M. Daniele; Liang, Kung Yee; Wu, Tao; Patel, Poorav J.; Jin, Sheng C.; Zhang, Tian Xiao; Schwender, Holger; Wu-Chou, Yah Huei; Chen, Philip K; Chong, Samuel S; Cheah, Felicia; Yeow, Vincent; Ye, Xiaoqian; Wang, Hong; Huang, Shangzhi; Jabs, Ethylin W.; Shi, Bing; Wilcox, Allen J.; Lie, Rolv T.; Jee, Sun Ha; Christensen, Kaare; Doheny, Kimberley F.; Pugh, Elizabeth W.; Ling, Hua; Scott, Alan F.

    2011-01-01

    Non-syndromic cleft palate (CP) is a common birth defect with a complex and heterogeneous etiology involving both genetic and environmental risk factors. We conducted a genome wide association study (GWAS) using 550 case-parent trios, ascertained through a CP case collected in an international consortium. Family based association tests of single nucleotide polymorphisms (SNP) and three common maternal exposures (maternal smoking, alcohol consumption and multivitamin supplementation) were used in a combined 2 df test for gene (G) and gene-environment (G×E) interaction simultaneously, plus a separate 1 df test for G×E interaction alone. Conditional logistic regression models were used to estimate effects on risk to exposed and unexposed children. While no SNP achieved genome wide significance when considered alone, markers in several genes attained or approached genome wide significance when G×E interaction was included. Among these, MLLT3 and SMC2 on chromosome 9 showed multiple SNPs resulting in increased risk if the mother consumed alcohol during the peri-conceptual period (3 months prior to conception through the first trimester). TBK1 on chr. 12 and ZNF236 on chr. 18 showed multiple SNPs associated with higher risk of CP in the presence of maternal smoking. Additional evidence of reduced risk due to G×E interaction in the presence of multivitamin supplementation was observed for SNPs in BAALC on chr. 8. These results emphasize the need to consider G×E interaction when searching for genes influencing risk to complex and heterogeneous disorders, such as non-syndromic CP. PMID:21618603

  13. Deafness and Immediate Memory for Pictures: Dissociations between "Inner Speech" and the "Inner Ear"?

    Science.gov (United States)

    Campbell, Ruth; Wright, Helen

    1990-01-01

    Examined deaf children for immediate memory of pictures of objects in two experiments. Deaf children did not use rhyme as a recall cue, but deaf children and age-matched children who could hear were both sensitive to name word length in recall. Implications of findings are discussed. (BC)

  14. From Fancy to Reason: Scaling Deaf and Hearing Children's Understanding of Theory of Mind and Pretence

    Science.gov (United States)

    Peterson, Candida C.; Wellman, Henry M.

    2009-01-01

    We examined deaf and hearing children's progression of steps in theory of mind (ToM) development including their understanding of social pretending. Ninety-three children (33 deaf; 60 hearing) aged 3-13 years were tested on a set of six closely matched ToM tasks. Results showed that deaf children were delayed substantially behind hearing children…

  15. The 2014 National Child Count of Children and Youth Who Are Deaf-Blind

    Science.gov (United States)

    National Center on Deaf-Blindness, 2015

    2015-01-01

    The National Child Count of Children and Youth who are Deaf-Blind is the first and longest running registry and knowledge base of children who are deaf-blind in the world. Begun in 1986 on behalf of the U.S. Department of Education, it represents a nearly thirty year collaborative effort between the National Center on Deaf-Blindness (NCDB), its…

  16. Failure to Detect Deaf-Blindness in a Population of People with Intellectual Disability

    Science.gov (United States)

    Fellinger, J.; Holzinger, D.; Dirmhirn, A.; van Dijk, J.; Goldberg, D.

    2009-01-01

    Background: Early identification of deaf-blindness is essential to ensure appropriate management. Previous studies indicate that deaf-blindness is often missed. We aim to discover the extent to which deaf-blindness in people with intellectual disability (ID) is undiagnosed. Method: A survey was made of the 253 residents of an institute offering…

  17. Deaf Students as a Linguistic and Cultural Minority: Shifting Perspectives and Implications for Teaching and Learning

    Science.gov (United States)

    Higgins, Michael; Lieberman, Amy M.

    2016-01-01

    Deaf children have traditionally been perceived and educated as a special needs population. Over the past several decades, many factors have converged to enable a shift in perspective to one in which deaf children are viewed as a cultural and linguistic minority, and the education of deaf children is approached from a bilingual framework. This…

  18. Non-Verbal Psychotherapy of Deaf Children with Disorders in Personality Development.

    Science.gov (United States)

    Zalewska, Marina

    1989-01-01

    Discussed are principles of nonverbal therapy for deaf children with disorders in the development of self, and the possible existence of a relationship between lack of auditory experiences in deaf children and disorders in mother-child bonding. A case study presents a three-year-old deaf boy successfully treated through a nonverbal…

  19. Education of the Deaf Act: Background and Reauthorization Issues. CRS Report for Congress.

    Science.gov (United States)

    Aleman, Steven R.

    This summary of the Education of the Deaf Act (Public Law 99-371) discusses the special institutions funded under the act and other issues related to the Act's reauthorization. The National Technical Institute for the Deaf (Rochester, New York) and Gallaudet University (District of Columbia) provide postsecondary training for deaf individuals.…

  20. Social Identity in Hearing Youth Who Have Deaf Parents: A Qualitative Study

    Science.gov (United States)

    Knight, Tracy Rouly

    2013-01-01

    The purpose of this research study is to describe the perspectives of young children of deaf adults regarding their linguistic and cultural identity. The researcher defined young Children of Deaf Adults (Codas) as Kids of Deaf Adults (Kodas). Kodas represented an interesting subgroup of bilingual, bicultural, and bimodal children with diverse…

  1. Theatre and Dance with Deaf Students: Researching Performance Practices in a Brazilian School Context

    Science.gov (United States)

    Berselli, Marcia; Lulkin, Sergio A.

    2017-01-01

    The article presents performance practices created with deaf students in the project "Theater and dance with deaf students," an outreach activity of the Federal University of Rio Grande do Sul (UFRGS). The project took place in the Bilingual Deaf Municipal Elementary School Salomão Watnick in Porto Alegre, Brazil from 2013 to 2015. The…

  2. Selected Factors in Reading Comprehension for Deaf and Hearing Adults: Phonological Skills and Metacognition

    Science.gov (United States)

    Wang, Ye; Silvestri, Julia A.; Jahromi, Laudan B.

    2018-01-01

    The purpose of the study was to identify factors related to reading comprehension, and to compare similarities and differences in the reading processes of deaf and hearing adults. The sample included four groups, each consisting of 15 adults. The groups were identified as (a) deaf high-achieving readers, (b) deaf low-achieving readers, (c) hearing…

  3. Semantic Fluency in Deaf Children Who Use Spoken and Signed Language in Comparison with Hearing Peers

    Science.gov (United States)

    Marshall, C. R.; Jones, A.; Fastelli, A.; Atkinson, J.; Botting, N.; Morgan, G.

    2018-01-01

    Background: Deafness has an adverse impact on children's ability to acquire spoken languages. Signed languages offer a more accessible input for deaf children, but because the vast majority are born to hearing parents who do not sign, their early exposure to sign language is limited. Deaf children as a whole are therefore at high risk of language…

  4. The Curious Case of the Deaf and Contested Landscapes of Bilingual Education

    Science.gov (United States)

    Valente, Joseph Michael; Boldt, Gail

    2016-01-01

    In this article, the authors examine deaf education as a "curious case" to prompt thinking about issues of language inequities. The authors argue that tying the fortunes of deaf students to those of other language minority students provides opportunities for new insights into policies and practices of deaf education as well the education…

  5. Research-Based Curriculum, Pedagogy, and Assessment in a Deaf Bilingual Program

    Science.gov (United States)

    Peterson, Laura

    2012-01-01

    The California School for the Deaf (CSD), Fremont, is a deaf-centered bilingual program. CSD's approach to curriculum development, instructional pedagogy, and assessment integrates best practices in deaf education, bilingual education, and general education. The goals of the program are outlined in the Expected School-wide Learning Results which…

  6. The Deaf Acculturation Scale (DAS): Development and Validation of a 58-Item Measure

    Science.gov (United States)

    Maxwell-McCaw, Deborah; Zea, Maria Cecilia

    2011-01-01

    This study involved the development and validation of the Deaf Acculturation Scale (DAS), a new measure of cultural identity for Deaf and hard-of-hearing (hh) populations. Data for this study were collected online and involved a nation-wide sample of 3,070 deaf/hh individuals. Results indicated strong internal reliabilities for all the subscales,…

  7. Developing Preschool Deaf Children's Language and Literacy Learning from an Educational Media Series

    Science.gov (United States)

    Golos, Debbie B.; Moses, Annie M.

    2013-01-01

    With the increase in research on multiliteracies comes greater interest in exploring multiple pathways of learning for deaf children. Educational media have been increasingly examined as a tool for facilitating the development of deaf children's language and literacy skills. The authors investigated whether preschool deaf children (N = 31)…

  8. Supporting Deaf Students with Intellectual Disabilities through a Specialized Literacy Curriculum

    Science.gov (United States)

    Berchin-Weiss, Janice; Falk, Jodi L.; Cunningham, Katherine Egan

    2016-01-01

    The incidence of d/Deaf students with intellectual disabilities in schools for the d/Deaf has increased; however, the development of curricula for this population has not kept up with this trend. A literacy curriculum was developed at St. Joseph's School for the Deaf (SJSD) to address the special needs of these students using a reading and writing…

  9. Speechreading Development in Deaf and Hearing Children: Introducing the Test of Child Speechreading

    Science.gov (United States)

    Kyle, Fiona E.; Campbell, Ruth; Mohammed, Tara; Coleman, Mike; MacSweeney, Mairead

    2013-01-01

    Purpose: In this article, the authors describe the development of a new instrument, the Test of Child Speechreading (ToCS), which was specifically designed for use with deaf and hearing children. Speechreading is a skill that is required for deaf children to access the language of the hearing community. ToCS is a deaf-friendly, computer-based test…

  10. A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome

    NARCIS (Netherlands)

    van Steensel, Maurice A. M.; van Geel, Michel; Nahuys, Marc; Smitt, J. Henk Sillevis; Steijlen, Peter M.

    2002-01-01

    Keratitis-ichthyosis-deafness syndrome is a rare disorder characterized by erythrokeratoderma, deafness, and keratitis. Scarring alopecia and squamous cell carcinoma can also occur. Most cases described so far were sporadic. Here we present evidence that keratitis-ichthyosis-deafness syndrome is

  11. A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome.

    NARCIS (Netherlands)

    Steensel, M.A.M. van; Geel, M. van; Nahuys, M.; Smitt, J.H.; Steijlen, P.M.

    2002-01-01

    Keratitis-ichthyosis-deafness syndrome is a rare disorder characterized by erythrokeratoderma, deafness, and keratitis. Scarring alopecia and squamous cell carcinoma can also occur. Most cases described so far were sporadic. Here we present evidence that keratitis-ichthyosis-deafness syndrome is

  12. Signed Language Working Memory Capacity of Signed Language Interpreters and Deaf Signers

    Science.gov (United States)

    Wang, Jihong; Napier, Jemina

    2013-01-01

    This study investigated the effects of hearing status and age of signed language acquisition on signed language working memory capacity. Professional Auslan (Australian sign language)/English interpreters (hearing native signers and hearing nonnative signers) and deaf Auslan signers (deaf native signers and deaf nonnative signers) completed an…

  13. Education of the Deaf and Hard of Hearing in the Digital Era

    Science.gov (United States)

    Denham, Percival J.; Battro, Antonio M.

    2012-01-01

    The education of the deaf and hard of hearing has been the aim and inspiration of many technological discoveries and developments. Since the early work of Alexander Graham Bell, a visionary in special education for the deaf, many relevant innovations have considerably improved the quality of life and the professional opportunities for deaf people…

  14. Memoir Upon the Formation of a Deaf Variety of the Human Race.

    Science.gov (United States)

    Bell, Alexander Graham

    A compilation of data on the hereditary aspects of deafness presented at a conference in 1883 by Alexander Graham Bell, the document contains records of familial occurences of deafness and marriage statistics. Tables indicate that within schools for the deaf many students had the same family name; it was considered highly probable that a…

  15. The "Third Ear" Decolonizes: Integrating Deaf Students into Post-Secondary Classes

    Science.gov (United States)

    McHeimech, Zeinab

    2009-01-01

    Can we effectively integrate Deaf students into our post-secondary classes before recognizing and listening to them? Studies indicate that Deaf students continue to struggle, be silenced, and experience isolation when mainstreamed. Deaf students, or second-language students, inevitably develop new identities once included; however, we cannot…

  16. 77 FR 47859 - National Institute on Deafness and Other Communication Disorders; Notice of Meeting

    Science.gov (United States)

    2012-08-10

    ... Deafness and Other Communication Disorders; Notice of Meeting Pursuant to section 10(d) of the Federal... Deafness and Other Communication Disorders Advisory Council. The meeting will be open to the public as... privacy. Name of Committee: National Deafness and Other Communication Disorders Advisory Council. Date...

  17. 76 FR 12744 - National Institute On Deafness and Other Communication Disorders; Notice of Closed Meetings

    Science.gov (United States)

    2011-03-08

    ... Deafness and Other Communication Disorders; Notice of Closed Meetings Pursuant to section 10(d) of the... Deafness and Other Communication Disorders Special Emphasis Panel; Clinical Trials-- Communications. Date..., [email protected] . Name of Committee: National Institute on Deafness and Other Communication Disorders...

  18. 75 FR 17150 - National Institute on Deafness and Other Communication Disorders; Notice of Meeting

    Science.gov (United States)

    2010-04-05

    ... Deafness and Other Communication Disorders; Notice of Meeting Pursuant to section 10(d) of the Federal... Deafness and Other Communication Disorders Advisory Council. The meeting will be open to the public as... privacy. Name of Committee: National Deafness and Other Communication Disorders Advisory Council. Date...

  19. 76 FR 62423 - National Institute on Deafness and Other Communication Disorders; Notice of Closed Meetings

    Science.gov (United States)

    2011-10-07

    ... Deafness and Other Communication Disorders; Notice of Closed Meetings Pursuant to section 10(d) of the... Deafness and Other Communication Disorders, Special Emphasis Panel, Clinical Trials. Date: October 24, 2011....nih.gov . Name of Committee: National Institute on Deafness and Other Communication Disorders, Special...

  20. 75 FR 18512 - National Institute on Deafness and Other Communication Disorders; Notice of Closed Meetings

    Science.gov (United States)

    2010-04-12

    ... Deafness and Other Communication Disorders; Notice of Closed Meetings Pursuant to section 10(d) of the... Deafness and Other Communication Disorders Special Emphasis Panel, LRP's. Date: May 3, 2010. Time: 1 p.m... Committee: National Institute on Deafness and Other Communication Disorders Special Emphasis Panel, Meniere...

  1. 75 FR 54892 - National Institute on Deafness and Other Communication Disorders; Notice of Closed Meetings

    Science.gov (United States)

    2010-09-09

    ... Deafness and Other Communication Disorders; Notice of Closed Meetings Pursuant to section 10(d) of the... Deafness and Other Communication Disorders Special Emphasis Panel; P30 Review. Date: October 1, 2010. Time... Sullivan, PhD, Scientific Review Officer, National Institute of Deafness and Other Communication Disorders...

  2. 76 FR 3918 - National Institute on Deafness and Other Communication Disorders; Notice of Closed Meetings

    Science.gov (United States)

    2011-01-21

    ... Deafness and Other Communication Disorders; Notice of Closed Meetings Pursuant to section 10(d) of the... Deafness and Other Communication Disorders Special Emphasis Panel; P30 Review. Date: February 3, 2011. Time....gov . Name of Committee: National Institute on Deafness and Other Communication Disorders; Special...

  3. 76 FR 49492 - National Institute on Deafness and Other Communication Disorders Notice of Meeting

    Science.gov (United States)

    2011-08-10

    ... Deafness and Other Communication Disorders Notice of Meeting Pursuant to section 10(d) of the Federal... Deafness and Other Communication Disorders Advisory Council. The meeting will be open to the public as... privacy. Name of Committee: National Deafness and Other Communication Disorders Advisory Council. Date...

  4. 77 FR 2077 - National Institute on Deafness and Other Communication Disorders; Notice of Closed Meetings

    Science.gov (United States)

    2012-01-13

    ... Deafness and Other Communication Disorders; Notice of Closed Meetings Pursuant to section 10(d) of the... Deafness and Other Communication Disorders Special Emphasis Panel; Translating Basic Research Review. Date... cycle. Name of Committee: National Institute on Deafness and Other Communication Disorders Special...

  5. 75 FR 3474 - National Institute on Deafness and Other Communication Disorders; Notice of Closed Meetings

    Science.gov (United States)

    2010-01-21

    ... Deafness and Other Communication Disorders; Notice of Closed Meetings Pursuant to section 10(d) of the... Deafness and Other Communication Disorders Special Emphasis Panel; CDRC Member Conflicts. Date: February 17....nih.gov . Name of Committee: National Institute on Deafness and Other Communication Disorders Special...

  6. 78 FR 1217 - National Institute on Deafness and Other Communication Disorders; Notice of Closed Meetings

    Science.gov (United States)

    2013-01-08

    ... Deafness and Other Communication Disorders; Notice of Closed Meetings Pursuant to section 10(d) of the... Deafness and Other Communication Disorders Special Emphasis Panel Chemosensory P50 Review. Date: January [email protected] . Name of Committee: National Institute on Deafness and Other Communication Disorders...

  7. 78 FR 20932 - National Institute on Deafness and Other Communication Disorders; Notice of Meeting

    Science.gov (United States)

    2013-04-08

    ... Deafness and Other Communication Disorders; Notice of Meeting Pursuant to section 10(d) of the Federal... Deafness and Other Communication Disorders Advisory Council. The meeting will be open to the public as... privacy. Name of Committee: National Deafness and Other Communication Disorders Advisory Council. Date...

  8. 76 FR 58023 - National Institute on Deafness and Other Communication Disorders Notice of Meeting

    Science.gov (United States)

    2011-09-19

    ... Deafness and Other Communication Disorders Notice of Meeting Pursuant to section 10(d) of the Federal... on Deafness and Other Communication Disorders, including consideration of personnel qualifications..., National Institute on Deafness and Other Communication Disorders, 5 Research Court, Room 1A13, Rockville...

  9. 77 FR 11562 - National Institute on Deafness and Other Communication Disorders; Notice of Closed Meeting

    Science.gov (United States)

    2012-02-27

    ... Deafness and Other Communication Disorders; Notice of Closed Meeting Pursuant to section 10(d) of the... Deafness and Other Communication Disorders Special Emphasis Panel P30 Review Date: March 28, 2012. Time: 12... Related to Deafness and Communicative Disorders, National Institutes of Health, HHS) Dated: February 21...

  10. 75 FR 62546 - National Institute on Deafness and Other Communication Disorders; Notice of Closed Meeting

    Science.gov (United States)

    2010-10-12

    ... Deafness and Other Communication Disorders; Notice of Closed Meeting Pursuant to section 10(d) of the... Deafness and Other Communication Disorders, Special Emphasis Panel, CDRC Conflicts. Date: October 26, 2010....173, Biological Research Related to Deafness and Communicative Disorders, National Institutes of...

  11. 76 FR 80375 - National Institute on Deafness and Other Communication Disorders; Notice of Meeting

    Science.gov (United States)

    2011-12-23

    ... Deafness and Other Communication Disorders; Notice of Meeting Pursuant to section 10(d) of the Federal... Deafness and Other Communication Disorders Advisory Council. The meeting will be open to the public as... privacy. Name of Committee: National Deafness and Other Communication Disorders Advisory Council. Date...

  12. 75 FR 80509 - National Institute on Deafness and Other Communication Disorders; Notice of Meeting

    Science.gov (United States)

    2010-12-22

    ... Deafness and Other Communication Disorders; Notice of Meeting Pursuant to section 10(d) of the Federal... Deafness and Other Communication Disorders Advisory Council. The meeting will be open to the public as... privacy. Name of Committee: National Deafness and Other Communication Disorders Advisory Council. Date...

  13. 77 FR 23489 - National Institute on Deafness and Other Communication Disorders; Notice of Meeting

    Science.gov (United States)

    2012-04-19

    ... Deafness and Other Communication Disorders; Notice of Meeting Pursuant to section 10(d) of the Federal... Deafness and Other Communication Disorders Advisory Council. The meeting will be open to the public as... invasion of personal privacy. Name of Committee: National Deafness and Other Communication Disorders...

  14. 77 FR 8888 - National Institute on Deafness and Other Communication Disorders; Notice of Closed Meeting

    Science.gov (United States)

    2012-02-15

    ... Deafness and Other Communication Disorders; Notice of Closed Meeting Pursuant to section 10(d) of the... Deafness and Other Communication Disorders Special Emphasis Panel, Clinical Trial Review. Date: February 21.... 93.173, Biological Research Related to Deafness and Communicative Disorders, National Institutes of...

  15. 77 FR 28611 - National Institute on Deafness and Other Communication Disorders; Notice of Closed Meeting

    Science.gov (United States)

    2012-05-15

    ... Deafness and Other Communication Disorders; Notice of Closed Meeting Pursuant to section 10(d) of the... Deafness and Other Communication Disorders Special Emphasis Panel; P50 Review. Date: June 1, 2012. Time: 11....173, Biological Research Related to Deafness and Communicative Disorders, National Institutes of...

  16. 78 FR 6333 - National Institute on Deafness and Other Communication Disorders; Notice of Closed Meetings

    Science.gov (United States)

    2013-01-30

    ... Deafness and Other Communication Disorders; Notice of Closed Meetings Pursuant to section 10(d) of the... Deafness and Other Communication Disorders Special Emphasis Panel; VSL Fellowships. Date: February 21, 2013... Committee: National Institute on Deafness and Other Communication Disorders Special Emphasis Panel; Training...

  17. 75 FR 157 - National Institute on Deafness and Other Communication Disorders; Notice of Closed Meeting

    Science.gov (United States)

    2010-01-04

    ... Deafness and Other Communication Disorders; Notice of Closed Meeting Pursuant to section 10(d) of the... Deafness and Other Communication Disorders Special Emphasis Panel, Chemosensory Clinical Research Center..., Biological Research Related to Deafness and Communicative Disorders, National Institutes of Health, HHS...

  18. 75 FR 49501 - National Institute on Deafness and Other Communication Disorders; Notice of Meeting

    Science.gov (United States)

    2010-08-13

    ... Deafness and Other Communication Disorders; Notice of Meeting Pursuant to section 10(d) of the Federal... Deafness and Other Communication Disorders Advisory Council. The meeting will be open to the public as... privacy. Name of Committee: National Deafness and Other Communication Disorders Advisory Council. Date...

  19. 78 FR 54477 - National Institute On Deafness and Other Communication Disorders; Notice of Closed Meeting

    Science.gov (United States)

    2013-09-04

    ... Deafness and Other Communication Disorders; Notice of Closed Meeting Pursuant to section 10(d) of the... Institute on Deafness and Other Communication Disorders Special Emphasis Panel; NIDCD T32 Application Review... Program Nos. 93.173, Biological Research Related to Deafness and Communicative Disorders, National...

  20. 77 FR 64525 - National Institute on Deafness and Other Communication Disorders; Notice of Closed Meeting

    Science.gov (United States)

    2012-10-22

    ... Deafness and Other Communication Disorders; Notice of Closed Meeting Pursuant to section 10(d) of the... Deafness and Other Communication Disorders; Special Emphasis Panel; VSL Fellowships. Date: November 1, 2012..., Biological Research Related to Deafness and Communicative Disorders, National Institutes of Health, HHS...

  1. 76 FR 30179 - National Institute on Deafness and Other Communication Disorders; Notice of Closed Meetings

    Science.gov (United States)

    2011-05-24

    ... Deafness and Other Communication Disorders; Notice of Closed Meetings Pursuant to section 10(d) of the... Deafness and Other Communication Disorders Special Emphasis Panel, R03-VSL. Date: June 1, 2011. Time: 11 a... Institute on Deafness and Other Communication Disorders Special Emphasis Panel, R03- Chemical Senses. Date...

  2. 76 FR 65738 - National Institute on Deafness and Other Communication Disorders; Notice of Closed Meetings

    Science.gov (United States)

    2011-10-24

    ... Deafness and Other Communication Disorders; Notice of Closed Meetings Pursuant to section 10(d) of the... Deafness and Other Communication Disorders Special Emphasis Panel, CDRC Conflicts. Date: November 8, 2011....nih.gov . Name of Committee: National Institute on Deafness and Other Communication Disorders Special...

  3. 77 FR 73474 - National Institute on Deafness and Other Communication Disorders; Notice of Meeting

    Science.gov (United States)

    2012-12-10

    ... Deafness and Other Communication Disorders; Notice of Meeting Pursuant to section 10(d) of the Federal... Deafness and Other Communication Disorders Advisory Council. The meeting will be open to the public as... privacy. Name of Committee: National Deafness and Other Communication Disorders Advisory Council. Date...

  4. 78 FR 28236 - National Institute on Deafness and Other Communication Disorders; Notice of Closed Meetings

    Science.gov (United States)

    2013-05-14

    ... Deafness and Other Communication Disorders; Notice of Closed Meetings Pursuant to section 10(d) of the... Deafness and Other Communication Disorders Special Emphasis Panel, CS Translational. Date: June 4, [email protected] . Name of Committee: National Institute on Deafness and Other Communication Disorders...

  5. 77 FR 35990 - National Institute on Deafness and Other Communication Disorders; Notice of Closed Meetings

    Science.gov (United States)

    2012-06-15

    ... Deafness and Other Communication Disorders; Notice of Closed Meetings Pursuant to section 10(d) of the... Deafness and Other Communication Disorders Special Emphasis Panel; Investigator Initiated R01 Review. Date... Institute on Deafness and Other Communication Disorders Special Emphasis Panel; Clinical Trial Review. Date...

  6. 78 FR 46995 - National Institute on Deafness and Other Communication Disorders; Notice of Meeting

    Science.gov (United States)

    2013-08-02

    ... Deafness and Other Communication Disorders; Notice of Meeting Pursuant to section 10(d) of the Federal... Deafness and Other Communication Disorders Advisory Council. The meeting will be open to the public as... personal privacy. Name of Committee: National Deafness and Other Communication Disorders Advisory Council...

  7. 76 FR 21385 - National Institute on Deafness and Other Communication Disorders; Notice of Meeting

    Science.gov (United States)

    2011-04-15

    ... Deafness and Other Communication Disorders; Notice of Meeting Pursuant to section 10(d) of the Federal... Deafness and Other Communication Disorders Advisory Council. The meeting will be open to the public as... privacy. Name of Committee: National Deafness and Other Communication Disorders Advisory Council. Date...

  8. Teaching sign language in gaucho schools for deaf people: a study of curricula

    Directory of Open Access Journals (Sweden)

    Carolina Hessel Silveira

    2013-06-01

    Full Text Available The paper, which provides partial results of a master’s dissertation, has sought to give contribute Sign Language curriculum in the deaf schooling. We began to understand the importance of sign languages for deaf people’s development and found out that a large part of the deaf are from hearing parents, which emphasises the significance of teaching LIBRAS (Brazilian Sign Language in schools for the deaf. We should also consider the importance of this study in building deaf identities and strengthening the deaf culture. We have obtained the theoretical basis in the so-called Deaf Studies and some experts in the curriculum theories. The main objective for this study has been to conduct an analysis of the LIBRAS curriculum at work in schools for the deaf in Rio Grande do Sul, Brazil. The curriculum analysis has shown a degree of diversity: in some curricula, content from one year is repeated in the next one with no articulation. In others, one can find preoccupation for issues of deaf identity and culture, but some of them include contents that are not related to LIBRAS, or the deaf culture, but rather to discipline for the deaf in general. By providing positive and negative aspects, the analysis data may help in discussions about difficulties, progress and problems in LIBRAS teacher education for deaf students.

  9. Perception of Genetic Testing for Deafness and Factors Associated with Interest in Genetic Testing Among Deaf People in a Selected Population in Sub-Saharan Africa.

    Science.gov (United States)

    Adedokun, Babatunde O; Yusuf, Bidemi O; Lasisi, J Taye; Jinadu, A A; Sunmonu, M T; Ashanke, A F; Lasisi, O Akeem

    2015-12-01

    Understanding the perceptions of genetic testing by members of the deaf community may help in planning deafness genetics research, especially so in the context of strong adherence to cultural values as found among native Africans. Among Yorubas in Nigeria, deafness is perceived to be caused by some offensive actions of the mother during pregnancy, spiritual attack, and childhood infections. We studied attitudes towards, and acceptance of genetic testing by the deaf community in Nigeria. Structured questionnaires were administered to individuals sampled from the Vocational Training Centre for the Deaf, the religious Community, and government schools, among others. The main survey items elicited information about the community in which the deaf people participate, their awareness of genetic testing, whether or not they view genetic testing as acceptable, and their understanding of the purpose of genetic testing. There were 150 deaf participants (61.3 % males, 38.7 % females) with mean age of 26.7 years ±9.8. A majority of survey respondents indicated they relate only with other members of the deaf community (78 %) and reported believing genetic testing does more good than harm (79.3 %); 57 % expressed interest in genetic testing. Interest in genetic testing for deafness or in genetic testing in pregnancy was not related to whether respondents relate primarily to the deaf or to the hearing community. However, a significantly higher number of male respondents and respondents with low education reported interest in genetic testing.

  10. Hearing children of Deaf parents: Gender and birth order in the delegation of the interpreter role in culturally Deaf families

    Directory of Open Access Journals (Sweden)

    Nomfundo F. Moroe

    2018-04-01

    Full Text Available Background: Culturally, hearing children born to Deaf parents may have to mediate two different positions within the hearing and Deaf cultures. However, there appears to be little written about the experiences of hearing children born to Deaf parents in the South African context. Objective: This study sought to investigate the roles of children of Deaf adults (CODAs as interpreters in Deaf-parented families, more specifically, the influence of gender and birth order in language brokering. Method: Two male and eight female participants between the ages of 21 and 40 years were recruited through purposive and snowball sampling strategies. A qualitative design was employed and data were collected using a semi-structured, open-ended interview format. Themes which emerged were analysed using thematic analysis. Results: The findings indicated that there was no formal assignment of the interpreter role; however, female children tended to assume the role of interpreter more often than the male children. Also, it appeared as though the older children shifted the responsibility for interpreting to younger siblings. The participants in this study indicated that they interpreted in situations where they felt they were not developmentally or emotionally ready, or in situations which they felt were better suited for older siblings or for siblings of another gender. Conclusion: This study highlights a need for the formalisation of interpreting services for Deaf people in South Africa in the form of professional interpreters rather than the reliance on hearing children as interpreters in order to mediate between Deaf and hearing cultures.

  11. Quantifying tone deafness in the general population.

    Science.gov (United States)

    Sloboda, John A; Wise, Karen J; Peretz, Isabelle

    2005-12-01

    Many people reach adulthood without acquiring significant music performance skills (singing or instrumental playing). A substantial proportion of these adults consider that this has come about because they are "not musical." Some of these people may be "true" congenital amusics, characterized by specific and substantial anomalies in the processing of musical pitch and rhythm sequences, while at the same time displaying normal processing of speech and language. It is likely, however, that many adults who believe that they are unmusical are neurologically normal. We could call these adults "false" amusics. Acquisition of musical competence has multiple personal, social, and environmental precursors. Deficiencies in these areas may lead to lack of musical achievement, despite the fact that an individual possesses the necessary underlying capacities. Adults may therefore self-define as "unmusical" or "tone-deaf" for reasons unconnected to any underlying anomaly. This paper reports on two linked research studies. The first is an interview study with adults defining themselves as tone-deaf or unmusical. The interview schedule was designed to discover what criteria are being used in their self-definitions. Preliminary results suggest that performance criteria (e.g., judging oneself as unable to sing) play a major role, even for people who claim and demonstrate no perceptual deficits. The second study reports progress on the development of new subtests for a revised version of the Montreal Battery for the Evaluation of Amusia (MBEA, Peretz et al., 2003). This currently contains six tests that allow for the assessment of melodic perception: contour, intervals, scale, rhythm, meter, and recognition memory. The MBEA does not assess two capacities that are generally accepted as central to normal music cognition: harmony and emotion. The development and norming of the emotion subtest will be described. When completed, the MBEA(R) will form a robust screening device for use with

  12. Reading comprehension of deaf students in regular education.

    Science.gov (United States)

    Luccas, Marcia Regina Zemella; Chiari, Brasília Maria; Goulart, Bárbara Niegia Garcia de

    2012-01-01

    To evaluate and compare the reading comprehension of deaf students included in regular classrooms of public schools with and without specialized educational support. Observational analytic study with 35 students with sensorineural hearing loss, with and without educational support. All subjects were assessed with the Word Reading Competence Test (WRCT), the Picture-Print Matching Test by Choice (PPMT-C), and the Sentence Reading Comprehension Test (SRCT). In the tests regarding comprehension of words (WRCT and PPMT-C), the results showed no difference in the performance of deaf students who attend and do not attend educational support. Regarding reading comprehension of sentences, the application of the SRCT also did not show differences between the groups of deaf students. A significant correlation was found between age and grade, indicating that the older the students and the higher their educational level, the better their performance in reading sentences. The results indicate that deaf students, regardless of attending educational support, read words better than sentences. There is no difference in reading comprehension between deaf students who receive and do not receive specialized pedagogical monitoring.

  13. Bilingual proposal in deaf education: educational practices in literacy process

    Directory of Open Access Journals (Sweden)

    Márcia Cristina Florêncio Fernandes Moret

    2016-12-01

    Full Text Available The teaching and use of the LIBRAS, in the deaf people education are indispensable for their development, building of their identity, autonomy, beside the communication with the world. The acquisition of the Portuguese Language is part of the regular school curriculum, and its command provides a relationship between language and society, which is mostly formed by hearing and users of this language. There is a concern related to the deaf people education, especially in literacy phase, which consequently extends through all the regular schooling, where the most part of the deaf students are finishing the high school without knowing how to read and/or produce in Portuguese Language. This problem affects the social development of these subjects, since the Portuguese Language is still required as if it were the deaf mother tongue, not respecting his/her culture, that has LIBRAS as their first language. The object of this research it to verify the methods and techniques in the deaf people literacy process and seek for other models, based on bilingual theory, ensuring the acquisition of LIBRAS, as a natural language and the teaching of Portuguese Language in a second language methodology, so that, in fact, the acquisition of reading and writing skills to materialize.

  14. Implicit sequence learning in deaf children with cochlear implants.

    Science.gov (United States)

    Conway, Christopher M; Pisoni, David B; Anaya, Esperanza M; Karpicke, Jennifer; Henning, Shirley C

    2011-01-01

    Deaf children with cochlear implants (CIs) represent an intriguing opportunity to study neurocognitive plasticity and reorganization when sound is introduced following a period of auditory deprivation early in development. Although it is common to consider deafness as affecting hearing alone, it may be the case that auditory deprivation leads to more global changes in neurocognitive function. In this paper, we investigate implicit sequence learning abilities in deaf children with CIs using a novel task that measured learning through improvement to immediate serial recall for statistically consistent visual sequences. The results demonstrated two key findings. First, the deaf children with CIs showed disturbances in their visual sequence learning abilities relative to the typically developing normal-hearing children. Second, sequence learning was significantly correlated with a standardized measure of language outcome in the CI children. These findings suggest that a period of auditory deprivation has secondary effects related to general sequencing deficits, and that disturbances in sequence learning may at least partially explain why some deaf children still struggle with language following cochlear implantation. © 2010 Blackwell Publishing Ltd.

  15. Deaf Clubs Today: Do They Still Have a Role to Play? The Cases of Cyprus and Greece

    Science.gov (United States)

    Hadjikakou, Kika; Nikolaraizi, Magda

    2011-01-01

    The present study investigated the current functions of Deaf clubs in Cyprus and in Greece. The researchers conducted in-depth semistructured interviews with 24 Cypriot and 22 Greek deaf individuals ages 19-54 years. The researchers found that the Deaf clubs in both countries provide a gathering place for deaf people, organize social and sport…

  16. Minnesota Brings Together Stakeholders to Develop a Plan for Children who are Deaf, Deafblind, and Hard of Hearing

    Science.gov (United States)

    Hartnett, Mary

    2013-01-01

    The Commission of Deaf, DeafBlind, and Hard of Hearing Minnesotans (MNCDHH) and the Minnesota Department of Education co-sponsored remote participation in two National Summits on Deaf Education in 2009 and 2010. The summits were focused on improved outcomes for deaf, deafblind, and hard of hearing students, partnerships, and collaboration. Summit…

  17. Hearing Recovey in Patients Suffering Sudden Deafness

    Directory of Open Access Journals (Sweden)

    Parviz Eslami

    1992-04-01

    Full Text Available The study included 80 patients treated for sudden deafness over the last 5-7 years. Case history, laboratory findings, pure-tone audiogram and electronystagmography (ENG findings were noted. If any abnormalities had been recorded in ENG studies, the studies were redone. ORL status was redefined and audiograms were obtained in all patients. When becoming ill, the 80 patients had not differed from the normal population in common cardiovascular risk factors. None of them had had signs of viral infection (paired serum samples had been taken at 2-week intervals; routine examinations had been done for common viral antigens. As many as 31 of the 80 patients with acute hearing loss had had abnormalities such as spontaneous nystagmus (PN, hypoexcitability (HE and directional preponderance (DP in the bithermal caloric tests (+44 degrees C, + 30 degrees C of their ENG studies. Twenty of the 31 patients still had abnormal ENG studies after 5-7 years. Only 1 subject had positional nystagmus, and none had subjective vertigo. Patients with an abnormal ENG study showed a poor recovery of the speech reception threshold, whereas those with a normal ENG study showed slightly significant (p less than 0.05 recovery.

  18. Predicting academic success among deaf college students.

    Science.gov (United States)

    Convertino, Carol M; Marschark, Marc; Sapere, Patricia; Sarchet, Thomastine; Zupan, Megan

    2009-01-01

    For both practical and theoretical reasons, educators and educational researchers seek to determine predictors of academic success for students at different levels and from different populations. Studies involving hearing students at the postsecondary level have documented significant predictors of success relating to various demographic factors, school experience, and prior academic attainment. Studies involving deaf and hard-of-hearing students have focused primarily on younger students and variables such as degree of hearing loss, use of cochlear implants, educational placement, and communication factors-although these typically are considered only one or two at a time. The present investigation utilizes data from 10 previous experiments, all using the same paradigm, in an attempt to discern significant predictors of readiness for college (utilizing college entrance examination scores) and classroom learning at the college level (utilizing scores from tests in simulated classrooms). Academic preparation was a clear and consistent predictor in both domains, but the audiological and communication variables examined were not. Communication variables that were significant reflected benefits of language flexibility over skills in either spoken language or American Sign Language.

  19. Simultaneous Occurence of an Autosomal Dominant Inherited MSX1 Mutation and an X-linked Recessive Inherited EDA Mutation in One Chinese Family with Non-syndromic Oligodontia.

    Science.gov (United States)

    Zhang, Xiao Xia; Wong, Sing Wai; Han, Dong; Feng, Hai Lan

    2015-01-01

    To describe the simultaneous occurence of an autosomal dominant inherited MSX1 mutation and an X-linked recessive inherited EDA mutation in one Chinese family with nonsyndromic oligodontia. Clinical data of characteristics of tooth agenesis were collected. MSX1 and EDA gene mutations were detected in a Chinese family of non-syndromic oligodontia. Mild hypodontia in the parents and severe oligodontia in the son was recorded. A novel missense heterozygous mutation c.517C>A (p.Arg173Ser) was detected in the MSX1 gene in the boy and the father. A homozygous missense mutation c.1001G>A (p.Arg334His) was detected in the EDA gene in the boy and the same mutant occurred heterozygously in the mother. Simultaneous occurence of two different gene mutations with different inheritence patterns, which both caused oligodontia, which occurred in one subject and in one family, was reported.

  20. Localization of A Novel Autosomal Recessive Non-Syndromic Hearing Impairment Locus (DFNB38) to 6q26–q27 in a Consanguineous Kindred from Pakistan

    Science.gov (United States)

    Ansar, Muhammad; Ramzan, Mohammad; Pham, Thanh L.; Yan, Kai; Jamal, Syed Muhammad; Haque, Sayedul; Ahmad, Wasim; Leal, Suzanne M.

    2010-01-01

    For autosomal recessive nonsyndromic hearing impairment over 30 loci have been mapped and 19 genes have been identified. DFNB38, a novel locus for autosomal recessive nonsyndromic hearing impairment, was localized in a consanguineous Pakistani kindred to 6q26–q27. The affected family members present with profound prelingual sensorineural hearing impairment and use sign language for communications. Linkage was established to microsatellite markers located on chromosome 6q26–q27 (Multipoint lod score 3.6). The genetic region for DFNB38 spans 10.1 cM according to the Marshfield genetic map and is bounded by markers D6S980 and D6S1719. This genetic region corresponds to 3.4 MB on the sequence-based physical map. PMID:12890929

  1. Demonstration of ipsilateral brain activation by noise in patients profoundly deaf with cochlear implant, or unilaterally deaf

    International Nuclear Information System (INIS)

    Herzog, H.; Wieler, H.; Morgenstern, C.; Lipman, J.; Langen, K.-J.; Schmid, A.; Rota, E.; Patton, D.; Feinendegen, L.F.

    1986-01-01

    Two groups of patients with hearing handicaps have been investigated with PET and F-18-2-FDG. Since these patients were unilaterally deaf or profoundly deaf with a cochlear implant installed, monaural stimulation was possible excluding any effects of bone conduction to the contralateral ear. White noise was used as acoustic stimulus in unilaterally deaf patients. The peripheral auditory nerve of cochlear implant patients was stimulated by electrical impulses which were encoded from music or a 4-tone mixture by an electronic speech processor. The non-music stimuli were chosen to avoid associative cortical reactions. In both groups response to the stimuli by increase of glucose consumption (LCMRglc) was found not only in the contralateral primary auditory cortex as expected from neuroanatomical knowledge, but also in the ipsilateral auditory cortex. Furthermore there was no correlation between the hemisphere showing increased LCMRglc and the side of stimulation or the type of stimulus. The similarity of results obtained in both groups by acoustical and electrical stimulation of the auditory nerve suggests that this kind of measurement might be a tool to predict or check the performance of a cochlear implant in a profoundly deaf patient. The finding of increased LCMRglc in the area of the normal auditory cortex in patients profoundly deaf since birth contradicts the hypothesis of degeneration of this cortical center in such patients. (Author)

  2. Deafness-related self-perceptions and psychological well-being in deaf adolescents with cochlear implants.

    Science.gov (United States)

    Mance, Jennifer; Edwards, Lindsey

    2012-05-01

    This study aimed to examine the relationship between psychological well-being and self-perception in adolescents with cochlear implants, in relation to their perceptions of hearing, deaf signing, and orally communicating deaf peers. Self-perceptions were examined in 22 cochlear implant users aged 12-18 years, using the repertory grid technique that allows the respondent to generate personally relevant 'identity' constructs. Psychological well-being was assessed using the Beck Youth Inventory, a series of five self-report questionnaires assessing anxiety, depression, disruptive behaviour, anger, and self-esteem. Correlational analyses indicated that perceiving oneself as close to any peer, irrespective of which peer, was associated with better psychological well-being. There was also a significant positive association between perceived degree of similarity specifically to hearing peers, and psychological well-being. The closer the implanted adolescents perceived themselves to be to their hearing peers, the better their overall psychological well-being. In contrast, perceiving oneself as more similar to deaf signing peers or deaf oral peers was not significantly associated with psychological well-being. The findings are discussed in the context of previous research on social comparison, Deaf identity, and the aims of cochlear implantation.

  3. A Danish family with dominant deafness-onychodystrophy syndrome.

    Science.gov (United States)

    Vind-Kezunovic, Dina; Torring, Pernille M

    2013-01-01

    The rare hereditary disorder "dominant deafness and onychodystrophy (DDOD) syndrome" (OMIM 124480) has been described in a few case reports. No putative DDOD gene or locus has been mapped and the cause of the disorder remains unknown. We present here three male family members in three generations with sensori-neural deafness, onychodystrophy and brachydactyly inherited via autosomal dominant transmission. The family members presented with absent fingernails on the first and fifth digits. As to the feet, there were absent nails on second to fifth toes in two family members, whereas the third family member only had absent nails on the fifth toe. The proband had late dentition and his father a history of late dentition, but otherwise the teeth appeared normal. Comparative genomic hybridization array analysis (Agilent 400k oligoarray) of the proband did not detect any copy number variation. This Danish family fits within the spectrum of dominant deafness and onychodystrophy syndrome and further characterises this rare disorder.

  4. Deaf-Blind Interpreting: Building on What You Already Know

    Directory of Open Access Journals (Sweden)

    Karen Petronio

    2010-10-01

    Full Text Available http://dx.doi.org/10.5007/2175-7968.2010v2n26p237 This article focuses on visual considerations and describes the numerous similarities between video interpreting and deaf-blind interpreting. It also looks at linguistic considerations for deaf-blind interpreting and presents research findings showing similarities and differences between ASL and Tactile ASL. Because many interpreters are unfamiliar with tactile communication, there is a section that includes an overview of Tactile ASL. The issues, descriptions, and data presented in this article are based on situations in the United States and involve the use of ASL and Tactile ASL; however, it is highly likely that these discussions and findings also relate to deaf-blind interpreting done in other countries using other sign languages.

  5. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.

    Science.gov (United States)

    Pierrache, Laurence H M; Hartel, Bas P; van Wijk, Erwin; Meester-Smoor, Magda A; Cremers, Frans P M; de Baere, Elfride; de Zaeytijd, Julie; van Schooneveld, Mary J; Cremers, Cor W R J; Dagnelie, Gislin; Hoyng, Carel B; Bergen, Arthur A; Leroy, Bart P; Pennings, Ronald J E; van den Born, L Ingeborgh; Klaver, Caroline C W

    2016-05-01

    USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. We studied genotype-phenotype correlations and compared visual prognosis in Usher syndrome type IIa and nonsyndromic RP. Clinic-based, longitudinal, multicenter study. Consecutive patients with Usher syndrome type IIa (n = 152) and nonsyndromic RP (n = 73) resulting from USH2A mutations from ophthalmogenetic clinics in the Netherlands and Belgium. Data on clinical characteristics, visual acuity, visual field measurements, retinal imaging, and electrophysiologic features were extracted from medical charts over a mean follow-up of 9 years. Cumulative lifetime risks of low vision and blindness were estimated using Kaplan-Meier survival analysis. Low vision and blindness. Participant groups had similar distributions of gender (48% vs. 45% males in Usher syndrome type IIa vs. nonsydromic RP; P = 0.8), ethnicity (97% vs. 99% European; P = 0.3), and median follow-up time (6.5 years vs. 3 years; P = 0.3). Usher syndrome type IIa patients demonstrated symptoms at a younger age (median age, 15 years vs. 25 years; P syndromic phenotype, whereas other combinations were present in both groups. We found novel variants in Usher syndrome type IIa (25%) and nonsyndromic RP (19%): 29 missense mutations, 10 indels, 14 nonsense mutations, 9 frameshift mutations, and 5 splice-site mutations. Most patients with USH2A-associated RP have severe visual impairment by age 50. However, those with Usher syndrome type IIa have an earlier decline of visual function and a higher cumulative risk of visual impairment than those without nonsyndromic RP. Complete loss of function of the USH2A protein predisposes to Usher syndrome type IIa, but remnant protein function can lead to RP with or without hearing loss. Copyright © 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

  6. [Research progress of mutational spectrum and pathophysiology of WFS1 gene in Wolfram syndrome and nonsyndromic low frequency sensorineural hearing loss].

    Science.gov (United States)

    Shi, S M; Han, Y H; Wang, H B

    2016-09-07

    Compound homozygous or heterozygous mutations in WFS 1 can lead to autosomal recessive Wolfram syndrome (WS), and heterozygous mutations in WFS 1 can lead to autosomal dominant non-syndromic low frequency sensorineural hearing loss (LFSNHL). In addition, mutations in the WFS region has relationship with diabetes and psychiatric diseases. In this paper, we provide an overview of genetic research with different phenotypes, including WS and LFSNHL.

  7. Reading characteristics of deaf and hard-of-hearing pupils

    Directory of Open Access Journals (Sweden)

    Karić Jasmina

    2012-01-01

    Full Text Available Background/Aim. Speech motor mechanisms play a crucial role in the process of demutization, due to the fact that they cover all the elements of the successive development of spech production movements leading to speech formation (socalled kinesthesia in speach. The aim of this study was to estimate the impact of perceptual motor actions on the cognitive process of reading in 130 students in regular schools and schools for the deaf and hard-of-hearing children in the Republic of Serbia. Methods. Kostić and Vladisavljević test consisted of the ten levels weight was used for the assessment of reading speed. To assess understanding of text read by verbal responses, we used three-dimensional adapted reading test of Helene Sax. Results. The triage-articulation test for assessing reading speed (Kostić and Vladisavljević’s test according to the weight of ten levels, revealed that students in regular schools statistically significantly faster read texts as compared to the deaf students. The results of the threedimensional adapted reading test of Helena Sax, show that the words learned by deaf children exist in isolation in their mind, ie, if there is no standard of acoustic performance for graphic image, in deaf child every word, printed or written, is just the sum of letters without meaning. Conclusion. There is a significant difference in text reading speed and its understanding among the children who hear and the deaf and hard of-hearing children. It is essential that in deaf and heard-of hearing children education, apart from the development of speech, parallelly use the concept of semantic processing in order to get each word by the fullness of its content and the possibility of expanding its meaning in a variety of assets.

  8. Critical health literacy in American deaf college students.

    Science.gov (United States)

    Kushalnagar, Poorna; Ryan, Claire; Smith, Scott; Kushalnagar, Raja

    2017-05-24

    This study investigates the relationship between critical health literacy (CHL) and discussion of health information among college deaf students who use American Sign Language. CHL is crucial in making appropriate health-related decisions for oneself and aiding others in making good health-choices. Research on general youth population shows that frequent health-related discussions with both friends and family is associated with higher health literacy. However, for our sample of deaf college-aged students who might have had less access to communication at home, we hypothesize that health-related discussions with same-age peers may be more important for critical health literacy. We asked two questions to assess the frequency of health-related discussions with friends and families: "How often do you discuss health-related information with your friends" and "How often do you discuss your family medical history with your family?". Participants rated their experience on a scale from 1-5 (1=never, 5=always). To assess CHL, 38 deaf and 38 hearing participants were shown a short scenario that showed a woman confiding in her friend after finding a lump in her breast. Participants were then asked what the friend should say. Responses were scored by a team of 3 raters using a CHL rubric. As predicted, results showed a strong relationship between discussion of health-related information with friends and CHL in both deaf and hearing samples. Discussion with family was linked to CHL only for hearing participants, but not deaf participants in our study. These findings underscore the importance of socializing with health-literate, accessible peers to improve the health literacy and health outcomes of all deaf people. © The Author 2017. Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  9. [Reading characteristics of deaf and hard-of-hearing pupils].

    Science.gov (United States)

    Karić, Jasmina; Ristić, Sinisa; Medenica, Snezana; Tadić, Vaska; Slavnić, Svetlana

    2012-10-01

    Speech motor mechanisms play a crucial role in the process of demutization, due to the fact that they cover all the elements of the successive development of spech production movements leading to speech formation (so-called kinesthesia in speach). The aim of this study was to estimate the impact of perceptual motor actions on the cognitive process of reading in 130 students in regular schools and schools for the deaf and hard-of-hearing children in the Republic of Serbia. Kostić and Vladisavljević test consisted of the ten levels weight was used for the assessment of reading speed. To assess understanding of text read by verbal responses, we used three-dimensional adapted reading test of Helene Sax. The triage-articulation test for assessing reading speed (Kostié and Vladisavljević's test according to the weight of ten levels, revealed that students in regular schools statistically significantly faster read texts as compared to the deaf students. The results of the three-dimensional adapted reading test of Helena Sax, show that the words learned by deaf children exist in isolation in their mind, i.e., if there is no standard of acoustic performance for graphic image, in deaf child every word, printed or written, is just the sum of letters without meaning. There is a significant difference in text reading speed and its understanding among the children who hear and the deaf and hard-of-hearing children. It is essential that in deaf and heard-of-hearing children education, apart from the development of speech, parallelly use the concept of semantic processing in order to get each word by the fullness of its content and the possibility of expanding its meaning in a variety of assets.

  10. Anatomic Severity, Midfacial Growth, and Speech Outcomes in Van der Woude/Popliteal Pterygium Syndromes Compared to Nonsyndromic Cleft Lip/Palate.

    Science.gov (United States)

    Reardon, Jeffrey B; Brustowicz, Katherine A; Marrinan, Eileen M; Mulliken, John B; Padwa, Bonnie L

    2015-11-01

    To summarize the clinical characteristics and surgical and speech outcomes for patients with Van der Woude/popliteal pterygium syndromes (VWS/PPS) and to compare them with a historic cohort of patients with nonsyndromic cleft lip/cleft palate (CL/P). Retrospective chart review. Tertiary care center. All patients with VWS/PPS seen at Boston Children's Hospital from 1979 to 2012: 28 patients with VWS (n = 21)/PPS (n = 7) whose mean age was 17.3 ± 10.4 years, including 18 females (64%) and 10 males (36%); 18 patients (64%) had a family history of VWS/PPS. Cleft type, operative procedures, speech, and midfacial growth. Data were compared with historic cohorts of patients with nonsyndromic CL/P treated at one tertiary care center. There were 24 patients (86%) with CP±L, Veau types I (n = 4, 17%), II (n = 4, 17%), III (n = 5, 21%), and IV (n = 11, 46%). Nine patients (38%) had palatal fistula after palatoplasty. Fourteen of 23 (61%) patients with CL/P age 5 years or older had midfacial retrusion, and 10 (43%) required a pharyngeal flap for velopharyngeal insufficiency. Fisher's exact test demonstrated higher frequencies of Veau type IV CP±L (P = .0016), bilateral CL±P (P = .0001), and complete CL±P (P palatal fistula (P clefting and higher incidences of midfacial retrusion, palatal fistula, and velopharyngeal insufficiency following primary repair as compared with nonsyndromic CL/P.

  11. [Connexin gene 26 (GJB2) mutations in patients with hereditary non-syndromic sensorineural loss of hearing in the Republic of Sakha (Yakutia)].

    Science.gov (United States)

    Barashkov, N A; Dzhemileva, L U; Fedorova, S A; Maksimova, N R; Khusnutdinova, E K

    2008-01-01

    The aim of the study was to elucidate the causes of hereditary non-syndromic loss of hearing, a frequent monogene pathology in the Republic of Sakha (Yakutia). A search for mutations in the coding sequence of the connexin 26 gene gap-junction B2 (GJB2) was undertaken in 79 members of 65 unrelated families with the diagnosis of grade III-IV non-syndromic bilateral sensorineural loss of hearing. Five recessive mutations (35delG, V371, 312-326del14, 333-334delAA, R127H) and three polymorphic variants (V271, M34T, E114G) were identified in Yakut patients. Mutations 35delG (41.7%), 312-326dell4 (4.2%), and 333-334delAA (4.2%) were found in Caucasian patients (Russians, Ukrainians, Inguish). Yakuts were carriers of mutations 35delG (2.1%), V371 (2.1%), R127H (1.0%) and sequence variants V271 (6.3%), M34T (1.0%), E114G (1.0%). GJB2 mutations were identified in 50.1% of the Caucasian patients and in 7.2% of the Yakut patients. The low frequency of GJB2 mutations in Yakuts with non-syndromic sensorineural loss of hearing testifies to the presence of mutations of other genes controlling sound perception in this population.

  12. Telemental health technology in deaf and general mental-health services: access and use.

    Science.gov (United States)

    Austen, Sally; McGrath, Melissa

    2006-01-01

    Long-distance travel to provide mental health services for deaf people has implications for efficiency, safety, and equality of service. However, uptake of Telemental Health (TMH) has been slow in both deaf and general mental health services. A quantitative study was used to investigate access to TMH and whether staff confidence, experience, or demographics affect TMH use. It was concluded that staff in neither deaf mental health services nor general mental health services had adequate knowledge of or access to TMH. Staff expressed concerns over TMH's appropriateness in their work. Previous use of videoconferencing was assosciated significantly with confidence, but previous use of videophones was not. Neither staff in deaf services nor deaf staff were more experienced with or more confident about videoconferencing, whereas, within deaf services, deaf staff were significantly more confident about videophone use. Training implications are discussed.

  13. The effectiveness of international development assistance from American organizations to deaf communities in Jamaica.

    Science.gov (United States)

    Wilson, Amy T

    American organizations bringing assistance to deaf people in developing countries unintentionally create relationships of dependency or oppression rather than relationships of support. Using qualitative methods, the author examined the effectiveness of development assistance provided to the Jamaican Deaf community by two American churches, one American nongovernmental organization, and one U.S. federal agency. Documents were reviewed and observations were made. Interviews were conducted with more than 60 deaf and hearing people involved with the American organizations, the Jamaican organizations, and deaf Jamaican beneficiaries. The author concludes that the Jamaican Deaf community was often excluded in planning, designing, or evaluating programs, and was unsatisfied with the American assistance it received. Results also indicate that the American organizations were poorly prepared to work with the Deaf community. Suggestions for American organizations wishing to strengthen and empower deaf people through development assistance in developing countries are proposed.

  14. Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder

    Science.gov (United States)

    Shanker, Vinay; Gupta, Mudita; Prashar, Aditi

    2012-01-01

    Keratitis-Icthyosis-Deafness syndrome is a rare congenital disorder characterized by keratitis, ichthyosis, and deafness. We report a 13 year old female child who presented with diffuse alopecia of the scalp and body. There was erythrokeratoderma of face and discrete hyperkeratotic hyperpigmented papulo plaque lesions on the body. Patient also had reticulate hyperkeratosis of palms and soles. There was history of recurrent episodes of folliculitis over the scalp and body. There was no evidence of any malignancy. Eye involvement in the form of bilateral vascularising keratitis was present. There was bilateral mixed hearing loss. PMID:23130264

  15. Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder

    Directory of Open Access Journals (Sweden)

    Vinay Shanker

    2012-01-01

    Full Text Available Keratitis-Icthyosis-Deafness syndrome is a rare congenital disorder characterized by keratitis, ichthyosis, and deafness. We report a 13 year old female child who presented with diffuse alopecia of the scalp and body. There was erythrokeratoderma of face and discrete hyperkeratotic hyperpigmented papulo plaque lesions on the body. Patient also had reticulate hyperkeratosis of palms and soles. There was history of recurrent episodes of folliculitis over the scalp and body. There was no evidence of any malignancy. Eye involvement in the form of bilateral vascularising keratitis was present. There was bilateral mixed hearing loss.

  16. Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a mutation

    Directory of Open Access Journals (Sweden)

    Yong Suk Shim

    2015-03-01

    Full Text Available Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who also had a family history of hypoparathyroidism and sensorineural deafness, present in the father. The patient was subsequently diagnosed and found to be a heterozygote for an insertion mutation c.255_256ins4 (GTGC in exon 2 of GATA3. His father was also confirmed to have the same mutation in GATA3.

  17. Description of floodplains and wetlands, Deaf Smith County site, Texas

    International Nuclear Information System (INIS)

    1986-11-01

    Floodplains and wetlands are important features of the Texas Panhandle landscape, and are found on the Deaf Smith County site and in its vicinity. Use or disturbance of floodplains and wetlands in relation to the Civilian Radioactive Waste Management Program is subject to environmental review requirements implementing two Executive Orders. This report provides general information on playa wetlands in the Texas Panhandle, and describes and maps floodplains and wetlands on the Deaf Smith site and in its vicinity. The report is based on the published literature, with information from limited field reconnaissance included

  18. Forensic Evaluation of Deaf Individuals: Challenges and Strategies.

    Science.gov (United States)

    Pollard, Robert Q; Berlinski, Brian T

    2017-01-01

    Forensic evaluation of deaf individuals presents unique challenges due to many examinees' fund of information deficits, potential for language deprivation, and examiners' frequent lack of creativity regarding communication methods. This article describes challenges most frequently encountered in competency to stand trial and criminal responsibility evaluations and offers strategies for overcoming them. The value of employing multiple communication methods, especially the use of illustrations, is emphasized. Suggestions also are offered regarding preparing evaluation reports and effectively communicating "key deaf fundamentals" to legal personnel. Encouragement is offered for qualified, sign-fluent professionals to engage in forensic work.

  19. Alabama Institute for Deaf and Blind Biodiesel Project Green

    Energy Technology Data Exchange (ETDEWEB)

    Edmiston, Jessica L

    2012-09-28

    Through extensive collaboration, Alabama Institute for Deaf and Blind (AIDB) is Alabama's first educational entity to initiate a biodiesel public education, student training and production program, Project Green. With state and national replication potential, Project Green benefits local businesses and city infrastructures within a 120-mile radius; provides alternative education to Alabama school systems and to schools for the deaf and blind in Appalachian States; trains students with sensory and/or multiple disabilities in the acquisition and production of biodiesel; and educates the external public on alternative fuels benefits.

  20. Treatment of Deaf Clients: Ethical Considerations for Professionals in Psychology

    Science.gov (United States)

    Boness, Cassandra L.

    2016-01-01

    Providing therapy to deaf clients raises important ethical considerations for psychologists related to competence; multiple relationships and boundary issues; confidentiality; assessment, diagnosis, and evaluation; and communication and using interpreters. In evaluating and addressing these, psychologists must consider the APA’s Ethics Code and other relevant issues (e.g., ADA) necessary to provide ethical treatment. The current article provides background, ethical considerations, principles and standards relevant to the treatment of deaf clients, and recommendations to support psychologists, training programs, and the field. Psychologists have the responsibility to guarantee that the benefits of mental health treatment are fairly and justly provided to this traditionally underserved population. PMID:27917030