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Sample records for profound sensorineural deafness

  1. 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 ...

  2. 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.

  3. Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a mutation

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    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.

  4. Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?

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    Ziegler, Alban; Loundon, Natalie; Jonard, Laurence; Cavé, Hélène; Baujat, Geneviève; Gherbi, Souad; Couloigner, Vincent; Marlin, Sandrine

    2017-09-01

    To highlight Noonan syndrome as a clinically recognizable cause of severe to profound sensorineural hearing impairment. New clinical cases and review. Patients evaluated for etiological diagnosis by a medical geneticist in a reference center for hearing impairment. Five patients presenting with confirmed Noonan syndrome and profound sensorineural hearing impairment. Diagnostic and review of the literature. Five patients presented with profound sensorineural hearing impairment and molecularly confirmed Noonan syndrome. Sensorineural hearing impairment has been progressive for three patients. Cardiac echography identified pulmonary stenosis in two patients and was normal for the three other patients. Short stature was found in two patients. Mild intellectual disability was found in one patient. Inconspicuous clinical features as facial dysmorphism, cryptorchidism, or easy bruising were of peculiar interest to reach the diagnosis of Noonan syndrome. Profound sensorineural hearing impairment can be the main feature of Noonan syndrome. Associated features are highly variable; thus, detailed medical history and careful physical examination are mandatory to consider the diagnosis in case of a sensorineural hearing impairment.

  5. Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.

    OpenAIRE

    Cross, J. H.; Arora, R.; Heckemann, R. A.; Gunny, R.; Chong, K.; Carr, L.; Baldeweg, T.; Differ, A. M.; Lench, N.; Varadkar, S.; Sirimanna, T.; Wassmer, E.; Hulton, S. A.; Ognjanovic, M.; Ramesh, V.

    2013-01-01

    Recently, we reported a previously unrecognized symptom constellation comprising epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) associated with recessive mutations in the KCNJ10 gene. Here, we provide a detailed characterization of the clinical features of the syndrome to aid patient management with respect to diagnosis, prognostic counselling, and identification of best treatment modalities.

  6. THIAMINE–RESPONSIVE MEGALOBLASTIC ANEMIA, SENSORINEURAL DEAFNESS AND DIABETES MELLITUS

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    M. Kadivar R. Moradian

    2006-11-01

    Full Text Available Abstract- The syndrome of diabetes mellitus, sensorineural deafness and megaloblastic anemia dose not result from thiamine deficiency. The previous reported patients had no sign of beriberi, had normal nutrition, and had no evidence of malabsorption. The features of this syndrome with apparent inheritance of autosomal recessive trait may define this puzzling syndrome as a true thiamine dependency state. The first Iranian patient was described by Vossough et al. in 1995. We found nine new cases with diagnostic criteria of thiamine responsive megaloblastic anemia during eight years of our study. In two patients, presentation of diabetes and anemia was concomitant. All of them were deaf with sensorineural hearing loss which was detected in infancy up to two years of age. The presence of congenital valvular heart disease was eliminated by normal echocardiography, but cardiomyopathy was discovered in two. Nonspecific amino-aciduria was discovered in three but urinary screening tests for hereditary orotic aciduria were negative. Ox-Phos biochemistry of muscle mitochondria which demonstrates severe defect in complexes I, III, IV in diabetes mellitus associated with deafness, were done but was unremarkable in our patients. Urinary methylmalonic acid and methyl malonyl carnitine by GS/MS and TMS was done in our patients and showed abnormal results in six patients. Thiamine gene, SLC 19A2, was detected in four patients.

  7. Novel association of achalasia with hereditary sensory and motor neuropathy with sensorineural deafness.

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    Asthana, A K; Lubel, J S; Kohn, G P

    2016-08-01

    Achalasia is a primary esophageal motility disorder. Unlike diffuse esophageal spasm, it has not previously been described in association with hereditary sensory and motor neuropathy (HSMN). An 18-year-old-male with HSMN with sensorineural deafness presented with a 2-day history of dysphagia to solids and liquids. Achalasia was diagnosed after extensive investigations, and his symptoms resolved with endoscopic and definitive surgical management. His monozygotic twin brother had also been diagnosed with HSMN and suffered from chronic dysphagia, which was also subsequently diagnosed with achalasia. This is the first case to illustrate an association between HSMN with sensorineural deafness and achalasia. © 2013 Wiley Periodicals, Inc. and the International Society for Diseases of the Esophagus.

  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. Foveal Processing Under Concurrent Peripheral Load in Profoundly Deaf Adults

    Science.gov (United States)

    2016-01-01

    Development of the visual system typically proceeds in concert with the development of audition. One result is that the visual system of profoundly deaf individuals differs from that of those with typical auditory systems. While past research has suggested deaf people have enhanced attention in the visual periphery, it is still unclear whether or not this enhancement entails deficits in central vision. Profoundly deaf and typically hearing adults were administered a variant of the useful field of view task that independently assessed performance on concurrent central and peripheral tasks. Identification of a foveated target was impaired by a concurrent selective peripheral attention task, more so in profoundly deaf adults than in the typically hearing. Previous findings of enhanced performance on the peripheral task were not replicated. These data are discussed in terms of flexible allocation of spatial attention targeted towards perceived task demands, and support a modified “division of labor” hypothesis whereby attentional resources co-opted to process peripheral space result in reduced resources in the central visual field. PMID:26657078

  10. Congenital sensorineural deafness in Australian stumpy-tail cattle dogs is an autosomal recessive trait that maps to CFA10.

    Directory of Open Access Journals (Sweden)

    Susan Sommerlad

    2010-10-01

    Full Text Available Congenital sensorineural deafness is an inherited condition found in many dog breeds, including Australian Stumpy-tail Cattle Dogs (ASCD. This deafness is evident in young pups and may affect one ear (unilateral or both ears (bilateral. The genetic locus/loci involved is unknown for all dog breeds. The aims of this study were to determine incidence, inheritance mechanism, and possible association of congenital sensorineural deafness with coat colour in ASCD and to identify the genetic locus underpinning this disease.A total of 315 ASCD were tested for sensorineural deafness using the brain stem auditory evoked response (BAER test. Disease penetrance was estimated directly, using the ratio of unilaterally to bilaterally deaf dogs, and segregation analysis was performed using Mendel. A complete genome screen was undertaken using 325 microsatellites spread throughout the genome, on a pedigree of 50 BAER tested ASCD in which deafness was segregating. Fifty-six dogs (17.8% were deaf, with 17 bilaterally and 39 unilaterally deaf. Unilaterally deaf dogs showed no significant left/right bias (p = 0.19 and no significant difference was observed in frequencies between the sexes (p = 0.18. Penetrance of deafness was estimated as 0.72. Testing the association of red/blue coat colour and deafness without accounting for pedigree structure showed that red dogs were 1.8 times more likely to be deaf (p = 0.045. The within family association between red/blue coat colour and deafness was strongly significant (p = 0.00036, with red coat colour segregating more frequently with deafness (COR = 0.48. The relationship between deafness and coat speckling approached significance (p = 0.07, with the lack of statistical significance possibly due to only four families co-segregating for both deafness and speckling. The deafness phenotype was mapped to CFA10 (maximum linkage peak on CFA10 -log10 p-value = 3.64, as was both coat colour and

  11. 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)

  12. 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.

  13. [Etiological, clinical and neuroradiological investigation of deaf children with additional neuropsychiatric disabilities].

    Science.gov (United States)

    Chilosi, A M; Scusa, M F; Comparini, A; Genovese, E; Forli, F; Berrettini, S; Cipriani, P

    2012-04-01

    Sensorineural hearing loss (SNHL) is complicated by additional disabilities in about 30% of cases, but the epidemiology of associated disorders, in terms of type, frequency and aetiology is still not clearly defined. Additional disabilities in a deaf child have important consequences in assessing and choosing a therapeutic treatment, in particular when considering cochlear implantation (CI) or hearing aids (HA). The aim of this paper was to evaluate frequency, type and severity of additional neurodevelopmental disabilities in children with profound bilateral sensorineural hearing loss and to investigate the relationship between disability and the etiology of deafness. Eighty children with profound bilateral sensorineural hearing loss (mean age 5.4 years) were investigated by means of a diagnostic protocol including clinical, neurodevelopmental, and audiological procedures together with genetic and neurometabolic tests and neuroradiological investigation by brain MRI. Fifty-five percent of the sample exhibited one or more disabilities in addition to deafness, with cognitive, behavioural-emotional and motor disorders being the most frequent. The risk of additional disabilities varied according to aetiology, with a higher incidence in hereditary syndromic deafness, in cases due to pre-perinatal pathology (in comparison to unknown and hereditary non syndromic forms) and in the presence of major brain abnormalities at MRI. Our results suggest that the aetiology of deafness may be a significant risk indicator for the presence of neuropsychiatric disorders. A multidimensional evaluation, including aetiological, neurodevelopmental and MRI investigation is needed for formulating prognosis and for planning therapeutic intervention, especially in those children candidated to cochlear implant.

  14. Bipolar Affective Disorder in a Patient of Profound Deafness.

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    Zubair, Usama Bin; Mumtaz, Humza; Mansoor, Sawera

    2018-03-01

    Profound deafness is a lifelong impairment, leading to the physical disability as well as poor psychological adjustment. We herein present a mental health disorder rarely seen among the patients of profound deafness. A 16-year deaf and dumb girl, previously treated for depression, presented with unusual laughter, irritability, flight of ideas, decreased sleep, ideas of self importance, and decreased social functioning and educational performance. These problems were understood by the parents via sign language, who interpreted them to the interviewer. Her Young Mania Rating Scale (YMRS) score was 19 and Brief Psychiatric Rating Scale (BPRS) score was 52. She was diagnosed as a case of bipolar affective disorder (BPAD). Marked improvement in the symptoms and social and educational performance was noted after two weeks of the treatment with sodium valproate, resperidone and clonazepam. Treatment options were explained to the patient with risks and benefits, and she was involved in the decision-making. This case report highlights the importance of accurately diagnosing and managing a rare mental health disorder among the physically handicapped people, especially those who cannot communicate effectively and explain their unusual subjective experiences.

  15. A case of antenatal Bartter syndrome with sensorineural deafness.

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    Lee, Hyun Seung; Cheong, Hae Il; Ki, Chang-Seok

    2010-10-01

    Bartter syndrome type IV, also known as Bartter syndrome with sensorineural deafness (BSND), is caused by loss-of-function mutations in the BSND gene, which encodes barttin, an accessory subunit of chloride channels located in the kidney and inner ear. Patients with BS IV have a highly variable clinical phenotype. This report concerns a Korean male patient with antenatal Bartter syndrome due to a homozygous BSND p.G47R mutation, who presented with severe perinatal symptoms followed by a relatively benign course with preserved renal function after early infancy. In addition, the clinical features and the laboratory data of the patient were compared with those of previously reported patients with the same mutation.

  16. Prevalence, heritability and genetic correlations of congenital sensorineural deafness and pigmentation phenotypes in the Border Collie.

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    De Risio, Luisa; Lewis, Tom; Freeman, Julia; de Stefani, Alberta; Matiasek, Lara; Blott, Sarah

    2011-06-01

    The objectives of this study were to estimate prevalence, heritability and genetic correlations of congenital sensorineural deafness (CSD) and pigmentation phenotypes in the Border Collie. Entire litters of Border Collies that presented to the Animal Health Trust (1994-2008) for assessment of hearing status by brain stem auditory evoked response (BAER) at 4-10 weeks of age were included. Heritability and genetic correlations were estimated using residual maximum likelihood (REML). Of 4143 puppies that met the inclusion criteria, 97.6% had normal hearing status, 2.0% were unilaterally deaf and 0.4% were bilaterally deaf. Heritability of deafness as a trichotomous trait (normal/unilaterally deaf/bilaterally deaf) was estimated at 0.42 using multivariate analysis. Genetic correlations of deafness with iris colour and merle coat colour were 0.58 and 0.26, respectively. These results indicate that there is a significant genetic effect on CSD in Border Collies and that some of the genes determining deafness also influence pigmentation phenotypes. Copyright © 2010 Elsevier Ltd. All rights reserved.

  17. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

    NARCIS (Netherlands)

    Bespalova, I.N.; Camp, G. van; Bom, S.J.H.; Brown, D.J.; Cryns, K.; Wan, A.T. de; Erson, A.E.; Flothmann, K.; Kunst, H.P.M.; Kurnool, P.; Sivakumaran, T.A.; Cremers, C.W.R.J.; Leal, S.M.; Burmeister, M.; Lesperance, M.M.

    2001-01-01

    Non-syndromic low frequency sensorineural hearing loss (LFSNHL) affecting only 2000 Hz and below is an unusual type of hearing loss that worsens over time without progressing to profound deafness. This type of LFSNHL may be associated with mild tinnitus but is not associated with vertigo. We have

  18. Sensorineural hearing loss and Mondini dysplasia caused by a deletion at locus DFN3.

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    Arellano, B; Ramírez Camacho, R; García Berrocal, J R; Villamar, M; del Castillo, I; Moreno, F

    2000-09-01

    To study a family with inner ear malformations and sensorineural hearing loss. Clinical, radiological, and genetic study of the members of a family with different degrees of sensorineural hearing loss. The males in the family manifested profound congenital hearing loss with severe inner ear malformations, while the only affected female had progressive hearing loss that had begun during puberty. Computed tomography showed inner ear malformations in both males, with enlarged internal auditory meatus and Mondini dysplasia. Genetic analysis disclosed a microdeletion at the locus DFN3 on chromosome X. A familial Mondini dysplasia is associated to a microdeletion at the deafness locus DFN3.

  19. Sensorineural Deafness, Distinctive Facial Features and Abnormal Cranial Bones

    Science.gov (United States)

    Gad, Alona; Laurino, Mercy; Maravilla, Kenneth R.; Matsushita, Mark; Raskind, Wendy H.

    2008-01-01

    The Waardenburg syndromes (WS) account for approximately 2% of congenital sensorineural deafness. This heterogeneous group of diseases currently can be categorized into four major subtypes (WS types 1-4) on the basis of characteristic clinical features. Multiple genes have been implicated in WS, and mutations in some genes can cause more than one WS subtype. In addition to eye, hair and skin pigmentary abnormalities, dystopia canthorum and broad nasal bridge are seen in WS type 1. Mutations in the PAX3 gene are responsible for the condition in the majority of these patients. In addition, mutations in PAX3 have been found in WS type 3 that is distinguished by musculoskeletal abnormalities, and in a family with a rare subtype of WS, craniofacial-deafness-hand syndrome (CDHS), characterized by dysmorphic facial features, hand abnormalities, and absent or hypoplastic nasal and wrist bones. Here we describe a woman who shares some, but not all features of WS type 3 and CDHS, and who also has abnormal cranial bones. All sinuses were hypoplastic, and the cochlea were small. No sequence alteration in PAX3 was found. These observations broaden the clinical range of WS and suggest there may be genetic heterogeneity even within the CDHS subtype. PMID:18553554

  20. Study of regional cerebral blood flow SPECT imaging for sudden sensorineural deafness

    International Nuclear Information System (INIS)

    Xie Changhui; Kui Xixiao; Xiong Qibin; Wen Hui; Xie Jiabiao

    1998-01-01

    Purpose: To study the clinical value of regional cerebral blood flow (rCBF) SPECT imaging for sudden sensorineural deafness (SSD). Methods: 10 normal persons, 19 conductive deafness and 31 SSD patients were examined by rCBF SPECT imaging, and compared with X CT at the same time. All SSD patients were followed up for 6∼12 months with repeated rCBF SPECT imaging. Results: 1) The radioactivity of diseased and normal horizontal temporal gyrus ratio (T/NT) in SSD patients was the lowest among three groups (P < 0.01). 2) The sensitivity (80.6%) and accurate rate (88.3%) of rCBF SPECT imaging in SSD patients were much higher than those of CT (3.2% and 50%, P < 0.01). 3) There was a significant correlation between degree of deafness and T/NT in SSD patients. 4) Good prognosis of SSD patients with normal rCBF SPECT was found. 5) The rCBF SPECT had close concordance between rCBF SPECT imaging and clinical prognosis (84.6%). Conclusions: rCBF SPECT imaging was superior to X CT in diagnosis of SSD and played an important clinical role

  1. Development of Bone-Conducted Ultrasonic Hearing Aid for the Profoundly Deaf: Assessments of the Modulation Type with Regard to Intelligibility and Sound Quality

    Science.gov (United States)

    Nakagawa, Seiji; Fujiyuki, Chika; Kagomiya, Takayuki

    2012-07-01

    Bone-conducted ultrasound (BCU) is perceived even by the profoundly sensorineural deaf. A novel hearing aid using the perception of amplitude-modulated BCU (BCU hearing aid: BCUHA) has been developed; however, further improvements are needed, especially in terms of articulation and sound quality. In this study, the intelligibility and sound quality of BCU speech with several types of amplitude modulation [double-sideband with transmitted carrier (DSB-TC), double-sideband with suppressed carrier (DSB-SC), and transposed modulation] were evaluated. The results showed that DSB-TC and transposed speech were more intelligible than DSB-SC speech, and transposed speech was closer than the other types of BCU speech to air-conducted speech in terms of sound quality. These results provide useful information for further development of the BCUHA.

  2. 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.

  3. A Grounded Theory of Effective Reading by Profoundly Deaf Adults

    Science.gov (United States)

    Silvestri, Julia; Wang, Ye

    2018-01-01

    The purpose of the study was to uncover and describe psycholinguistic and sociocognitive factors facilitating effective reading by signing adults who are profoundly deaf and do not use hearing technology. The sample comprised four groups, each consisting of 15 adults, for a total of 60 participants. The four groups were "deaf…

  4. Speech timing and working memory in profoundly deaf children after cochlear implantation

    OpenAIRE

    Burkholder, Rose A.; Pisoni, David B.

    2003-01-01

    Thirty-seven profoundly deaf children between 8- and 9-years-old with cochlear implants and a comparison group of normal-hearing children were studied to measure speaking rates, digit spans, and speech timing during digit span recall. The deaf children displayed longer sentence durations and pauses during recall and shorter digit spans compared to the normal-hearing children. Articulation rates, measured from sentence durations, were strongly correlated with immediate memory span in both norm...

  5. 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

  6. Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness.

    Science.gov (United States)

    Jeck, N; Reinalter, S C; Henne, T; Marg, W; Mallmann, R; Pasel, K; Vollmer, M; Klaus, G; Leonhardt, A; Seyberth, H W; Konrad, M

    2001-07-01

    To characterize a rare inherited hypokalemic salt-losing tubulopathy with linkage to chromosome 1p31. We conducted a retrospective analysis of the clinical data for 7 patients in whom cosegregation of the disease with chromosome 1p31 had been demonstrated. In addition, in 1 kindred, prenatal diagnosis in the second child was established, allowing a prospective clinical evaluation. Clinical presentation of the patients was homogeneous and included premature birth attributable to polyhydramnios, severe renal salt loss, normotensive hyperreninemia, hypokalemic alkalosis, and excessive hyperprostaglandin E-uria, which suggested the diagnosis of hyperprostaglandin E syndrome/antenatal Bartter syndrome. However, the response to indomethacin was only poor, accounting for a more severe variant of the disease. The patients invariably developed chronic renal failure. The majority had extreme growth retardation, and motor development was markedly delayed. In addition, all patients turned out to be deaf. The hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness represents not only genetically but also clinically a disease entity distinct from hyperprostaglandin E syndrome/antenatal Bartter syndrome. A pleiotropic effect of a single gene defect is most likely causative for syndromic hearing loss.

  7. Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.

    Science.gov (United States)

    Riahi, Zied; Bonnet, Crystel; Zainine, Rim; Lahbib, Saida; Bouyacoub, Yosra; Bechraoui, Rym; Marrakchi, Jihène; Hardelin, Jean-Pierre; Louha, Malek; Largueche, Leila; Ben Yahia, Salim; Kheirallah, Moncef; Elmatri, Leila; Besbes, Ghazi; Abdelhak, Sonia; Petit, Christine

    2015-01-01

    Usher syndrome (USH) is an autosomal recessive disorder characterized by combined deafness-blindness. It accounts for about 50% of all hereditary deafness blindness cases. Three clinical subtypes (USH1, USH2, and USH3) are described, of which USH1 is the most severe form, characterized by congenital profound deafness, constant vestibular dysfunction, and a prepubertal onset of retinitis pigmentosa. We performed whole exome sequencing in four unrelated Tunisian patients affected by apparently isolated, congenital profound deafness, with reportedly normal ocular fundus examination. Four biallelic mutations were identified in two USH1 genes: a splice acceptor site mutation, c.2283-1G>T, and a novel missense mutation, c.5434G>A (p.Glu1812Lys), in MYO7A, and two previously unreported mutations in USH1G, i.e. a frameshift mutation, c.1195_1196delAG (p.Leu399Alafs*24), and a nonsense mutation, c.52A>T (p.Lys18*). Another ophthalmological examination including optical coherence tomography actually showed the presence of retinitis pigmentosa in all the patients. Our findings provide evidence that USH is under-diagnosed in Tunisian deaf patients. Yet, early diagnosis of USH is of utmost importance because these patients should undergo cochlear implant surgery in early childhood, in anticipation of the visual loss.

  8. Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.

    Directory of Open Access Journals (Sweden)

    Zied Riahi

    Full Text Available Usher syndrome (USH is an autosomal recessive disorder characterized by combined deafness-blindness. It accounts for about 50% of all hereditary deafness blindness cases. Three clinical subtypes (USH1, USH2, and USH3 are described, of which USH1 is the most severe form, characterized by congenital profound deafness, constant vestibular dysfunction, and a prepubertal onset of retinitis pigmentosa. We performed whole exome sequencing in four unrelated Tunisian patients affected by apparently isolated, congenital profound deafness, with reportedly normal ocular fundus examination. Four biallelic mutations were identified in two USH1 genes: a splice acceptor site mutation, c.2283-1G>T, and a novel missense mutation, c.5434G>A (p.Glu1812Lys, in MYO7A, and two previously unreported mutations in USH1G, i.e. a frameshift mutation, c.1195_1196delAG (p.Leu399Alafs*24, and a nonsense mutation, c.52A>T (p.Lys18*. Another ophthalmological examination including optical coherence tomography actually showed the presence of retinitis pigmentosa in all the patients. Our findings provide evidence that USH is under-diagnosed in Tunisian deaf patients. Yet, early diagnosis of USH is of utmost importance because these patients should undergo cochlear implant surgery in early childhood, in anticipation of the visual loss.

  9. Vascular defects and sensorineural deafness in a mouse model of Norrie disease.

    Science.gov (United States)

    Rehm, Heidi L; Zhang, Duan-Sun; Brown, M Christian; Burgess, Barbara; Halpin, Chris; Berger, Wolfgang; Morton, Cynthia C; Corey, David P; Chen, Zheng-Yi

    2002-06-01

    Norrie disease is an X-linked recessive syndrome of blindness, deafness, and mental retardation. A knock-out mouse model with an Ndp gene disruption was studied. We examined the hearing phenotype, including audiological, histological, and vascular evaluations. As is seen in humans, the mice had progressive hearing loss leading to profound deafness. The primary lesion was localized to the stria vascularis, which houses the main vasculature of the cochlea. Fluorescent dyes showed an abnormal vasculature in this region and eventual loss of two-thirds of the vessels. We propose that one of the principal functions of norrin in the ear is to regulate the interaction of the cochlea with its vasculature.

  10. 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.

  11. Otolithic organ function in patients with profound sensorineural hearing loss

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    Yujuan Zhou

    2016-06-01

    Full Text Available Profound sensorineural hearing loss (PSHL is not uncommonly encountered in otology. In clinics, there is a high incidence of otolithic damage in patients with PSHL, but relevant reports are few. Sharing a continuous membranous structure and similar receptor cell ultrastructures, the cochlea and vestibule may be susceptible to the same harmful factors. Disorders of the inner ear may result in a variety of manifestations, including vertigo, spatial disorientation, blurred vision, impaired articulation, and hearing impairment. Considering the diversity of clinical symptoms associated with PSHL with otolithic dysfunction, it may be frequently misdiagnosed, and objective means of testing the function of otolithic organs should be recommended for hearing-impaired patients. Vestibular-evoked myogenic potentials (VEMPs via air-conducted sound are of great importance for the diagnosis of otolithic function. Hearing devices such as cochlear implants are commonly accepted treatments for PSHL, and early identification and treatment of vestibular disorders may increase the success rate of cochlear implantation. Therefore, it is necessary to increase awareness of otolithic functional states in patients with PSHL.

  12. The Influence of Phonological Mechanisms in Written Spelling of Profoundly Deaf Children

    Science.gov (United States)

    Colombo, Lucia; Arfe, Barbara; Bronte, Tiziana

    2012-01-01

    In the present study, the effect of phonological and working memory mechanisms involved in spelling Italian single words was explored in two groups of children matched for grade level: a group of normally hearing children and a group of pre-verbally deaf children, with severe-to-profound hearing loss. Three-syllable and four-syllable familiar…

  13. Prevalence of congenital hereditary sensorineural deafness in Australian Cattle Dogs and associations with coat characteristics and sex

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    Sommerlad Susan F

    2012-10-01

    Full Text Available Abstract Background Congenital hereditary sensorineural deafness (CHSD occurs in many dog breeds, including Australian Cattle Dogs. In some breeds, CHSD is associated with a lack of cochlear melanocytes in the stria vascularis, certain coat characteristics, and potentially, abnormalities in neuroepithelial pigment production. This study investigates phenotypic markers for CHSD in 899 Australian Cattle Dogs. Results Auditory function was tested in 899 Australian Cattle Dogs in family groups using brainstem auditory evoked response testing. Coat colour and patterns, facial and body markings, gender and parental hearing status were recorded. Deafness prevalence among all 899 dogs was 10.8% with 7.5% unilaterally deaf, and 3.3% bilaterally deaf, and amongst pups from completely tested litters (n = 696 was 11.1%, with 7.5% unilaterally deaf, and 3.6% bilaterally deaf. Univariable and multivariable analyses revealed a negative association between deafness and bilateral facial masks (odds ratio 0.2; P ≤ 0.001. Using multivariable logistic animal modelling, the risk of deafness was lower in dogs with pigmented body spots (odds ratio 0.4; P = 0.050. No significant associations were found between deafness and coat colour. Within unilaterally deaf dogs with unilateral facial masks, no association was observed between the side of deafness and side of mask. The side of unilateral deafness was not significantly clustered amongst unilaterally deaf dogs from the same litter. Females were at increased risk of deafness (odds ratio from a logistic animal model 1.9; P = 0.034 after adjusting for any confounding by mask type and pigmented body spots. Conclusions Australian Cattle Dogs suffer from CHSD, and this disease is more common in dogs with mask-free faces, and in those without pigmented body patches. In unilaterally deaf dogs with unilateral masks, the lack of observed association between side of deafness and side of mask suggests that if CHSD is due to

  14. The Hands with Eyes and Nose in the Palm: As Effective Communication Alternatives for Profoundly Deaf People in Zimbabwe

    Science.gov (United States)

    Mutswanga, Phillipa

    2017-01-01

    Drawing from the experiences and testimonies of people with profound deafness, the study qualitatively explored the use of the hands with eyes and nose in the palm as communication alternatives in the field of deafness. The study was prompted by the 27 year old lady, Leah Katz-Hernandez who is deaf who got engaged in March 2015 as the 2016…

  15. Development of a Bone-Conducted Ultrasonic Hearing Aid for the Profoundly Deaf: Evaluation of Sound Quality Using a Semantic Differential Method

    Science.gov (United States)

    Nakagawa, Seiji; Fujiyuki, Chika; Kagomiya, Takayuki

    2013-07-01

    Bone-conducted ultrasound (BCU) is perceived even by the profoundly sensorineural deaf. A novel hearing aid using the perception of amplitude-modulated BCU (BCU hearing aid: BCUHA) has been developed. However, there is room for improvement particularly in terms of sound quality. BCU speech is accompanied by a strong high-pitched tone and contain some distortion. In this study, the sound quality of BCU speech with several types of amplitude modulation [double-sideband with transmitted carrier (DSB-TC), double-sideband with suppressed carrier (DSB-SC), and transposed modulations] and air-conducted (AC) speech was quantitatively evaluated using semantic differential and factor analysis. The results showed that all the types of BCU speech had higher metallic and lower esthetic factor scores than AC speech. On the other hand, transposed speech was closer than the other types of BCU speech to AC speech generally; the transposed speech showed a higher powerfulness factor score than the other types of BCU speech and a higher esthetic factor score than DSB-SC speech. These results provide useful information for further development of the BCUHA.

  16. [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.

  17. Gd enhanced MRI in sensorineural hearing loss

    International Nuclear Information System (INIS)

    Takenaka, Mika; Tono, Tetsuya; Toyama, Katsuhiro; Kano, Kiyo; Morimitsu, Tamotsu

    1996-01-01

    The enhanced MRI hearing findings of the inner ear in 124 patients with sensorineural hearing loss were evaluated. MR images were obtained before and after the intravenous administration of gadolinium (0.1 mmol/kg). In three out of seventy-nine patients with unilateral healing loss, cochlear and/or the vestibular enhancement was noted on the symptomatic side. The positive cases included those with Ramsay-Hunt syndrome, mumps and so-called sudden deafness. Forty-five patients with bilateral hearing loss showed no enhancement within the inner ear. Although positive gadolinium enhancement of the inner ear may detect inflammatory lesions due to a viral infection, its incidence in sensorineural hearing loss, including cases of sudden deafness. seems to be extremely rare. (author)

  18. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.

    Science.gov (United States)

    Bitner-Glindzicz, M; Lindley, K J; Rutland, P; Blaydon, D; Smith, V V; Milla, P J; Hussain, K; Furth-Lavi, J; Cosgrove, K E; Shepherd, R M; Barnes, P D; O'Brien, R E; Farndon, P A; Sowden, J; Liu, X Z; Scanlan, M J; Malcolm, S; Dunne, M J; Aynsley-Green, A; Glaser, B

    2000-09-01

    Usher syndrome type 1 describes the association of profound, congenital sensorineural deafness, vestibular hypofunction and childhood onset retinitis pigmentosa. It is an autosomal recessive condition and is subdivided on the basis of linkage analysis into types 1A through 1E. Usher type 1C maps to the region containing the genes ABCC8 and KCNJ11 (encoding components of ATP-sensitive K + (KATP) channels), which may be mutated in patients with hyperinsulinism. We identified three individuals from two consanguineous families with severe hyperinsulinism, profound congenital sensorineural deafness, enteropathy and renal tubular dysfunction. The molecular basis of the disorder is a homozygous 122-kb deletion of 11p14-15, which includes part of ABCC8 and overlaps with the locus for Usher syndrome type 1C and DFNB18. The centromeric boundary of this deletion includes part of a gene shown to be mutated in families with type 1C Usher syndrome, and is hence assigned the name USH1C. The pattern of expression of the USH1C protein is consistent with the clinical features exhibited by individuals with the contiguous gene deletion and with isolated Usher type 1C.

  19. Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder

    Energy Technology Data Exchange (ETDEWEB)

    Landau, D.; Shalev, H.; Carmi, Rivka; Ohaly, M. [Univ. of the Negev, Ashkelon (Israel)

    1995-12-04

    The infantile variant of Bartter syndrome (IBS) is usually associated with maternal polyhydramnios, premature birth, postnatal polyuria and hypokalemic hypochloremic metabolic alkalosis and a typical appearance. IBS is thought to be an autosomal recessive trait. Several congenital tubular defects are associated with sensorineural deafness (SND). However, an association between the IBS and SND has not been reported so far. Here we describe 5 children of an extended consanguineous Bedouin family with IBS and SND. In 3 of the cases, the typical electrolyte imbalance and facial appearance were detected neonatally. SND was detected as early as age 1 month, suggesting either coincidental homozygotization of 2 recessive genes or a pleiotropic effect of one autosomal recessive gene. This association suggests that evaluation of SND is warranted in every case of IBS. 35 refs., 2 figs., 2 tabs.

  20. [Constitute, imaging and auditory characteristics of pediatric patients with congenital malformations of inner ear in sensorineural hearing loss].

    Science.gov (United States)

    Li, Youjin; Yang, Jun; Li, Yun

    2011-01-01

    To analyze the constitute, imaging and auditory characteristics of pediatric patients with congenital malformations of inner ear in sensorineural hearing loss(SNHL). Imaging and auditory data of 125 cases (225 ears) in 860 pediatric patients with congenital SNHL who referred to ENT department of Shanghai Children Medical Center from February 2005 to January 2010 were retrospectively studied. Congenital malformations of inner ear accounted for 14.5% in 860 pediatric patients with congenital SNHL. Bilateral ear was involved in 98 cases (78.4%), unilateral in 27 cases (21.6%). One hundred and sixty-seven ears (74.2%) were identified as profound deafness, 36 ears (16%) severe deafness and 22 ears (9.8%) moderate deafness in 225 ears, respectively. In present group, large vestibular aqueduct (75.6%) was the most common and next was vestibular deformity (32%), then cochleovestibular deformity (23.1%). Mondini deformity (55.8%) was the most common and common cavity deformity (28.9%) next in cochleovestibular deformity. Profound deafness in cochlea involved congenital malformations of inner ear was significantly more than those in no cochlea involved malformations. The results are of importance for understanding the constitute of congenital malformations of inner ear in pediatric patients with congenital SNHL in China, for etiological diagnosis of congenital SNHL, for intervention including hearing aids or cochlear implant and prognosis.

  1. Beneficios económicos del implante coclear para la hipoacusia sensorineural profunda Economic benefits of the cochlear implant for treating profound sensorineural hearing loss

    Directory of Open Access Journals (Sweden)

    Augusto Peñaranda

    2012-04-01

    Full Text Available OBJETIVO: Evaluar el costo-beneficio (CB, costo-utilidad (CU y costo-efectividad (CE de la implantación coclear, comparándola con el uso de audífonos en niños con hipoacusia sensorineural profunda bilateral. MÉTODOS: Se empleó la técnica no paramétrica Propensity Score Matching (PSM para realizar la evaluación de impacto económico del implante y así llevar a cabo los análisis CB, CU y CE. Se utilizó información primaria, tomada aleatoriamente a 100 pacientes: 62 intervenidos quirúrgicamente con el implante coclear (grupo de tratamiento y 38 pertenecientes al grupo de control o usuarios de audífono para tratar la hipoacusia sensorineural profunda. RESULTADOS: Se halló un diferencial de costos económicos -en beneficio del implante coclear- cercano a US$ 204 000 entre el implante y el uso de audífonos durante la esperanza de vida de los pacientes analizados. Dicha cifra indica los mayores gastos que deben cubrir los pacientes con audífono. Con este valor descontado, el indicador costo-beneficio señala que por cada dólar invertido en el implante coclear, para tratar al paciente, el retorno de la inversión es US$ 2,07. CONCLUSIONES: El implante coclear genera beneficios económicos para el paciente. También produce utilidades en salud dado que se encontró una relación positiva de CU (ganancia en decibeles y CE (ganancia en discriminación del lenguaje.OBJECTIVE: Evaluate the cost-benefit, cost-utility, and cost-effectiveness of cochlear implantation, comparing it to the use of hearing aids in children with profound bilateral sensorineural hearing loss. METHODS: The nonparametric propensity score matching method was used to carry out an economic and impact assessment of the cochlear implant and then perform cost-benefit, cost-utility, and cost-effectiveness analyses. Primary information was used, taken randomly from 100 patients: 62 who received cochlear implants (treatment group and 38 belonging to the control group who used

  2. 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.

  3. Cortical activation in profoundly deaf patients during cochlear implant stimulation demonstrated by H2(15)O PET

    International Nuclear Information System (INIS)

    Herzog, H.; Lamprecht, A.; Kuehn, A.R.; Roden, W.; Vosteen, K.H.; Feinendegen, L.E.

    1991-01-01

    Cochlear implants (CIs) are used to provide sensations of sound to profoundly deaf patients. The performance of the CI is assessed mainly by the subjective reports of patients. The aim of this study was to look for objective cortical responses to the stimulation of the CI. Two postlingually and two prelingually deaf patients were investigated by positron emission tomography (PET) using 15 O-labeled water (H 2 15 O) to determine the regional cerebral blood flow (rCBF). Instead of quantifying rCBF in absolute terms, it was estimated by referring the regional tissue concentration of H 2 15 O to the mean whole brain concentration. CI stimulation encoded from white noise and sequential words led to an increased rCBF in the primary and secondary (Wernicke) auditory cortex. Relative elevations of up to 33% were observed bilaterally, although they were higher contralateral to the CI. These results were obtained not only in the postlingually deaf patients but also in two patients who had never been able to hear. Thus, it could be demonstrated that PET measurements of cerebral H 2 15 O distribution yield objective responses of the central auditory system during electrical stimulation by CIs in profoundly deaf patients

  4. Screening of Long Q-T Syndrome in Patients with Congenital Sensorineural Hearing Loss (Jervell and Lange Neilesen Syndrome: Prevention of Fatal Events

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    Farid Matin

    2001-01-01

    Full Text Available Objective:The idiopathic long Q-T syndrome is an infrequently occurring disorder in which affected individuals have an unusual electrocardiographic repolarization abnormality presenting as syncope or loss of consciousness related to ventricular tachycardia or fibrillation. Congenital long Q-T prolongation can be associated with congenital deafness in an autosomal recessive manner (Jervell and Lange-Nielsen syndrome. The purpose of this stuff was to screen this electrocardiographic abnormality in deaf-mute school children in our population, which has not been yet performed. Materials & Methods:  Of 1190 patients with hearing loss, 779 had congenital sensorineural deafness (CSD, aged 13±3.8 years (4-24, 63% female and 37% male. The family history of deafness was as follows: Cardiac axis deviation was found in 56 (7% patients. Electrical conduction abnormalities were found in 12 (15% patients, Wolff-Parkinson-White syndrome, sinus bradycardia, and sinus arrhythmia were found in 2 (0.25%, 4 (0.5%, and 3 (0.38% patients, respectively. The Q-T interval, and Q-Tc duration were 312.6±28.9 ms (200-500 ms, median 320 ms, and 383.6±29.3 ms (232-527 ms, median 413ms, respectively. Long Q-T syndrome was found in 4 (0.5% patients (3F and 1M. Results: Two of these 4 patients had total deafness and 2 had profound hearing loss. None of the patients with mild deafness had Q-T prolongation. Only one of these patients was symptomatic, and had been treated as a case of epilepsy for several years. Conclusion: This data supports the presence of long Q-T syndrome in patients with sensorineural hearing loss in our population, so routine electrocardiographic screening of anyone with congenital deafness is warranted to prevent subsequent associated cardiac arrhythmias and sudden cardiac death.

  5. Diffusion tensor imaging of the auditory nerve in patients with acquired single-sided deafness

    DEFF Research Database (Denmark)

    Vos, Sjoerd; Haakma, Wieke; Versnel, Huib

    2015-01-01

    following cochlear hair cell loss, and the amount of degeneration may considerably differ between the two ears, also in patients with bilateral deafness. A measure that reflects the nerve's condition would help to assess the best of both nerves and decide accordingly which ear should be implanted......A cochlear implant (CI) can restore hearing in patients with profound sensorineural hearing loss by direct electrical stimulation of the auditory nerve. Therefore, the viability of the auditory nerve is vitally important in successful hearing recovery. However, the nerve typically degenerates...... single-sided sensorineural hearing loss. A specialized acquisition protocol was designed for a 3 T MRI scanner to image the small nerve bundle. The nerve was reconstructed using fiber tractography and DTI metrics - which reflect the nerve's microstructural properties - were computed per tract. Comparing...

  6. Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?

    Science.gov (United States)

    Gad, Alona; Laurino, Mercy; Maravilla, Kenneth R; Matsushita, Mark; Raskind, Wendy H

    2008-07-15

    The Waardenburg syndromes (WS) account for approximately 2% of congenital sensorineural deafness. This heterogeneous group of diseases currently can be categorized into four major subtypes (WS types 1-4) on the basis of characteristic clinical features. Multiple genes have been implicated in WS, and mutations in some genes can cause more than one WS subtype. In addition to eye, hair, and skin pigmentary abnormalities, dystopia canthorum and broad nasal bridge are seen in WS type 1. Mutations in the PAX3 gene are responsible for the condition in the majority of these patients. In addition, mutations in PAX3 have been found in WS type 3 that is distinguished by musculoskeletal abnormalities, and in a family with a rare subtype of WS, craniofacial-deafness-hand syndrome (CDHS), characterized by dysmorphic facial features, hand abnormalities, and absent or hypoplastic nasal and wrist bones. Here we describe a woman who shares some, but not all features of WS type 3 and CDHS, and who also has abnormal cranial bones. All sinuses were hypoplastic, and the cochlea were small. No sequence alteration in PAX3 was found. These observations broaden the clinical range of WS and suggest there may be genetic heterogeneity even within the CDHS subtype. 2008 Wiley-Liss, Inc.

  7. 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.

  8. P300 in individuals with sensorineural hearing loss

    Directory of Open Access Journals (Sweden)

    Ana Cláudia Mirandola Barbosa Reis

    2015-04-01

    Full Text Available INTRODUCTION: Behavioral and electrophysiological auditory evaluations contribute to the understanding of the auditory system and of the process of intervention.OBJECTIVE: To study P300 in subjects with severe or profound sensorineural hearing loss.METHODS: This was a descriptive cross-sectional prospective study. It included 29 individuals of both genders with severe or profound sensorineural hearing loss without other type of disorders, aged 11 to 42 years; all were assessed by behavioral audiological evaluation and auditory evoked potentials.RESULTS: A recording of the P3 wave was obtained in 17 individuals, with a mean latency of 326.97 ms and mean amplitude of 3.76 V. There were significant differences in latency in relation to age and in amplitude according to degree of hearing loss. There was a statistically significant association of the P300 results with the degrees of hearing loss (p = 0.04, with the predominant auditory communication channels (p < 0.0001, and with time of hearing loss.CONCLUSIONS: P300 can be recorded in individuals with severe and profound congenital sensorineural hearing loss; it may contribute to the understanding of cortical development and is a good predictor of the early intervention outcome.

  9. P300 in individuals with sensorineural hearing loss.

    Science.gov (United States)

    Reis, Ana Cláudia Mirandola Barbosa; Frizzo, Ana Claudia Figueiredo; Isaac, Myriam de Lima; Garcia, Cristiane Fregonesi Dutra; Funayama, Carolina Araújo Rodrigues; Iório, Maria Cecília Martinelli

    2015-01-01

    Behavioral and electrophysiological auditory evaluations contribute to the understanding of the auditory system and of the process of intervention. To study P300 in subjects with severe or profound sensorineural hearing loss. This was a descriptive cross-sectional prospective study. It included 29 individuals of both genders with severe or profound sensorineural hearing loss without other type of disorders, aged 11 to 42 years; all were assessed by behavioral audiological evaluation and auditory evoked potentials. A recording of the P3 wave was obtained in 17 individuals, with a mean latency of 326.97ms and mean amplitude of 3.76V. There were significant differences in latency in relation to age and in amplitude according to degree of hearing loss. There was a statistically significant association of the P300 results with the degrees of hearing loss (p=0.04), with the predominant auditory communication channels (p<0.0001), and with time of hearing loss. P300 can be recorded in individuals with severe and profound congenital sensorineural hearing loss; it may contribute to the understanding of cortical development and is a good predictor of the early intervention outcome. Copyright © 2014 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  10. Family influences on the cognitive development of profoundly deaf children: exploring the effects of socioeconomic status and siblings.

    Science.gov (United States)

    Macaulay, Catrin E; Ford, Ruth M

    2013-10-01

    We evaluated the cognitive development of 48 profoundly deaf children from hearing families (born 1994-2002, mean age M = 8.0 years at time of test, none of whom had received early auditory-verbal therapy) as a function of family socioeconomic status and number of siblings. Overall, the deaf children matched a younger group of 47 hearing controls (M = 4.6 years) on verbal ability, theory of mind, and cognitive inhibition. Partial correlations (controlling for age) revealed positive relations in the hearing group between maternal education and inhibition, between number of younger siblings and references to emotions, and between number of close-in-age siblings and references to desires and false beliefs. In the deaf group, there were positive relations between household income and memory span, between maternal education and references to false beliefs, and between number of younger siblings and nonverbal ability. In contrast, deaf children with a greater number of older siblings aged ≤12 years showed inferior memory span, inhibition, belief understanding, picture-sequencing accuracy, and mental-state language, suggesting that they failed to compete successfully with older siblings for their parents' attention and material resources. We consider the implications of the findings for understanding birth-order effects on deaf and language-impaired children.

  11. The current status of audiologic rehabilitation for profound unilateral sensorineural hearing loss.

    Science.gov (United States)

    Bishop, Charles E; Eby, Thomas L

    2010-03-01

    Audiologic rehabilitation of individuals with profound unilateral sensorineural hearing loss (USNHL) has traditionally been limited to the use of air-conduction contralateral routing of sound (CROS) hearing aids. Treatment for these individuals has expanded with new applications of the bone-anchored hearing aid (BAHA), transcranial hearing aid (t-CROS), and the cochlear implant. In this article, the authors review the literature that addresses these various treatment options. Contemporary review Historical information is available that describes the limited efficacy of air-conduction CROS hearing aids in lifting hearing handicap associated with USNHL. Current investigations on providing cross hearing are generally focused on use of the BAHA. Little is known at present whether new developments in hearing aid technology can improve on conventional air-conduction CROS or t-CROS approaches. Interestingly, the cochlear implant seems to be a viable option for individuals with USNHL and tinnitus who also have intact auditory nerve pathways. There is indication in the literature that BAHA provides greater relief of hearing handicap associated with USNHL than CROS hearing aids; however, both have been found to provide limited patient satisfaction and seemingly fall short of restoring true sound localization. Adequate trials have not been performed comparing BAHA with the best CROS hearing aid technology. Transcranial hearing aids and cochlear implants are experimental methods to treat USNHL and hold promise, although there remains a lack of studies available to fully support this.

  12. 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…

  13. Correlation between audiovestibular function tests and hearing outcomes in severe to profound sudden sensorineural hearing loss.

    Science.gov (United States)

    Wang, Chi-Te; Huang, Tsung-Wei; Kuo, Shih-Wei; Cheng, Po-Wen

    2009-02-01

    This study investigated whether audiovestibular function tests, namely auditory brain stem response (ABR) and vestibular-evoked myogenic potential (VEMP) tests were correlated to hearing outcomes after controlling the effects of other potential confounding factors in severe to profound sudden sensorineural hearing loss (SSHL). Eighty-eight patients with severe to profound SSHL were enrolled in this study. Pretreatment hearing levels, results of audiovestibular function tests, and final hearing outcomes were recorded from retrospective chart reviews. Other factors, including age, gender, delay of treatment, vertigo, diabetes mellitus, and hypertension, were collected as well. Comparative analysis between multiple variables and hearing outcomes was conducted using the cumulative logits model in overall subjects. Further, multivariate analysis of prognostic factors was conducted in the stratified groups of severe (70 dB HL 90 dB HL) SSHL. Multivariate analysis showed that pretreatment hearing levels, presence of vertigo, and results of ABR and VEMP testing were significant outcome predictors in the overall subjects. Stratification analysis demonstrated that both the presence of ABR and VEMP waveforms were significantly correlated with better hearing outcomes in the group of severe SSHL [ABR: adjusted odds ratio (aOR) = 14.7, 95% confidence interval (CI) = 1.78 to 122, p = 0.01; VEMP: aOR = 5.91, 95% CI = 1.18 to 29.5, p = 0.03], whereas the presence of vertigo was the only significant negative prognostic factor in the group of profound SSHL (aOR = 0.24, 95% CI = 0.06 to 0.95, p = 0.04). Other variables, including age, gender, diabetes mellitus, hypertension, and delay of treatment, were not significantly related to hearing outcomes in both groups (p > 0.05). A predictive hearing recovery table with the combined ABR and VEMP results was proposed for the group of severe SSHL. ABR and VEMP tests should be included in the battery of neurootological examinations in

  14. Mitochondrial Sensorineural Hearing Loss: A Retrospective Study and a Description of Cochlear Implantation in a MELAS Patient

    Directory of Open Access Journals (Sweden)

    Mauro Scarpelli

    2012-01-01

    Full Text Available Hearing impairment is common in patients with mitochondrial disorders, affecting over half of all cases at some time in the course of the disease. In some patients, deafness is only part of a multisystem disorder. By contrast, there are also a number of “pure” mitochondrial deafness disorders, the most common probably being maternally inherited. We retrospectively analyzed the last 60 genetically confirmed mitochondrial disorders diagnosed in our Department: 28 had bilateral sensorineural hearing loss, whereas 32 didn't present ear's abnormalities, without difference about sex and age of onset between each single group of diseases. We reported also a case of MELAS patient with sensorineural hearing loss, in which cochlear implantation greatly contributed to the patient's quality of life. Our study suggests that sensorineural hearing loss is an important feature in mitochondrial disorders and indicated that cochlear implantation can be recommended for patients with MELAS syndrome and others mitochondrial disorders.

  15. 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.

  16. Cochlear implantation in autistic children with profound sensorineural hearing loss.

    Science.gov (United States)

    Lachowska, Magdalena; Pastuszka, Agnieszka; Łukaszewicz-Moszyńska, Zuzanna; Mikołajewska, Lidia; Niemczyk, Kazimierz

    2016-11-19

    Cochlear implants have become the method of choice for the treatment of severe-to-profound hearing loss in both children and adults. Its benefits are well documented in the pediatric and adult population. Also deaf children with additional needs, including autism, have been covered by this treatment. The aim of this study was to assess the benefits from cochlear implantation in deafened children with autism as the only additional disability. This study analyzes data of six children. The follow-up time was at least 43 months. The following data were analyzed: medical history, reaction to music and sound, Ling's six sounds test, onomatopoeic word test, reaction to spoken child's name, response to requests, questionnaire given to parents, sound processor fitting sessions and data. After cochlear implantation each child presented other communication skills. In some children, the symptoms of speech understanding were observed. No increased hyperactivity associated with daily use cochlear implant was observed. The study showed that in autistic children the perception is very important for a child's sense of security and makes contact with parents easier. Our study showed that oral communication is not likely to be a realistic goal in children with cochlear implants and autism. The implantation results showed benefits that varied among those children. The traditional methods of evaluating the results of cochlear implantation in children with autism are usually insufficient to fully assess the functional benefits. These benefits should be assessed in a more comprehensive manner taking into account the limitations of communication resulting from the essence of autism. It is important that we share knowledge about these complex children with cochlear implants. Copyright © 2016 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

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

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    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.

  18. Cost Effectiveness of Childhood Cochlear Implantation and Deaf Education in Nicaragua: A Disability Adjusted Life Year Model.

    Science.gov (United States)

    Saunders, James E; Barrs, David M; Gong, Wenfeng; Wilson, Blake S; Mojica, Karen; Tucci, Debara L

    2015-09-01

    Cochlear implantation (CI) is a common intervention for severe-to-profound hearing loss in high-income countries, but is not commonly available to children in low resource environments. Owing in part to the device costs, CI has been assumed to be less economical than deaf education for low resource countries. The purpose of this study is to compare the cost effectiveness of the two interventions for children with severe-to-profound sensorineural hearing loss (SNHL) in a model using disability adjusted life years (DALYs). Cost estimates were derived from published data, expert opinion, and known costs of services in Nicaragua. Individual costs and lifetime DALY estimates with a 3% discounting rate were applied to both two interventions. Sensitivity analysis was implemented to evaluate the effect on the discounted cost of five key components: implant cost, audiology salary, speech therapy salary, number of children implanted per year, and device failure probability. The costs per DALY averted are $5,898 and $5,529 for CI and deaf education, respectively. Using standards set by the WHO, both interventions are cost effective. Sensitivity analysis shows that when all costs set to maximum estimates, CI is still cost effective. Using a conservative DALY analysis, both CI and deaf education are cost-effective treatment alternatives for severe-to-profound SNHL. CI intervention costs are not only influenced by the initial surgery and device costs but also by rehabilitation costs and the lifetime maintenance, device replacement, and battery costs. The major CI cost differences in this low resource setting were increased initial training and infrastructure costs, but lower medical personnel and surgery costs.

  19. Gradual Recovery from Bilateral Severe Sensorineural Hearing Loss post Motor Vehicle Accident.

    Science.gov (United States)

    Yaroko, A A; Shahrjerdi, B; M D, Md Khairi

    2013-04-01

    Sensorineural hearing loss following trauma is a common finding in daily clinical practice and usually associated with a poor prognosis. Our case illustrates a patient who was involved in motor vehicle accident sustaining bilateral severe to profound sensorineural hearing loss but subsequently recovered fully after two years. Unless there is clear trauma to the cochlea or auditory nerve, a substantial duration of follow up is needed in the treatment of such cases.

  20. Simultaneous versus Sequential Intratympanic Steroid Treatment for Severe-to-Profound Sudden Sensorineural Hearing Loss.

    Science.gov (United States)

    Yoo, Myung Hoon; Lim, Won Sub; Park, Joo Hyun; Kwon, Joong Keun; Lee, Tae-Hoon; An, Yong-Hwi; Kim, Young-Jin; Kim, Jong Yang; Lim, Hyun Woo; Park, Hong Ju

    2016-01-01

    Severe-to-profound sudden sensorineural hearing loss (SSNHL) has a poor prognosis. We aimed to compare the efficacy of simultaneous and sequential oral and intratympanic steroids for this condition. Fifty patients with severe-to-profound SSNHL (>70 dB HL) were included from 7 centers. The simultaneous group (27 patients) received oral and intratympanic steroid injections for 2 weeks. The sequential group (23 patients) was treated with oral steroids for 2 weeks and intratympanic steroids for the subsequent 2 weeks. Pure-tone averages (PTA) and word discrimination scores (WDS) were compared before treatment and 2 weeks and 1 and 2 months after treatment. Treatment outcomes according to the modified American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) criteria were also analyzed. The improvement in PTA and WDS at the 2-week follow-up was 23 ± 21 dB HL and 20 ± 39% in the simultaneous group and 31 ± 29 dB HL and 37 ± 42% in the sequential group; this was not statistically significant. Complete or partial recovery at the 2-week follow-up was observed in 26% of the simultaneous group and 30% of the sequential group; this was also not significant. The improvement in PTA and WDS at the 2-month follow-up was 40 ± 20 dB HL and 37 ± 35% in the simultaneous group and 41 ± 25 dB HL and 48 ± 41% in the sequential group; this was not statistically significant. Complete or partial recovery at the 2-month follow-up was observed in 33% of the simultaneous group and 35% of the sequential group; this was also not significant. Seven patients in the sequential group did not need intratympanic steroid injections for sufficient improvement after oral steroids alone. Simultaneous oral/intratympanic steroid treatment yielded a recovery similar to that produced by sequential treatment. Because the addition of intratympanic steroids can be decided upon based on the improvement after an oral steroid, the sequential regimen can be recommended to avoid unnecessary

  1. 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.

  2. Consanguinity Among Parents of Iranian Deaf Children.

    Science.gov (United States)

    Ajallouyan, Mohammad; Radfar, Shokofeh; Nouhi, Sima; Tavallaie, Seid Abbas; Amirsalari, Susan; Yousefi, Jaleh; Hasanali Fard, Mahdieh

    2016-11-01

    It seems that there is a relationship between consanguinity and profound hearing loss but there is little data about the association of consanguinity and hearing loss in Iran. The aim of this study is to demonstrate the causes of profound bilateral sensorineural hearing loss among Iranian samples who are candidates for cochlear implantation. This study was retrospective, analytical, and designed to collect information about profound hearing impaired cases referred to the Baqiyatallah Cochlear implantation center using enumeration. A total of 310 children with profound hearing impairments participated in this study. They were aged from 6 months to 4 years old. The study was done between January 2007 and April 2009. Chi-square tests were used to show whether there was any statistical difference between the incidence of marital consanguinity of their parents and the normal population. Sixty-five percent of those 310 children had parents who had married with their relatives. Of the 203 (65%) parents that had consanguineous marriages, 132 were first cousins, which includes the children of two brothers (37 [11.8%] patrilateral parallel cousins), the children of two sisters (38 [12.2%] multi-lateral parallel cousins), or the children of a brother and a sister (57 [18.3%] cross cousins). Fifty-four (17.4%) of the parents were second cousins and 17 (5.2%) were beyond second cousins. Also, hearing loss etiology was obvious in 237 (76.3%) of the patients with profound hearing loss but was unknown in 73 (23.7%). Hereditary was identified as the most common cause in 33% of the cases. Our data demonstrated a 65% occurrence of consanguineous marriage among the parents of deaf children, which is statistically different from the percentage of consanguineous marriage among Iranian population (38%). This indicates an obvious relationship between severe hearing loss and consanguineous marriage.

  3. Balance Performance of Deaf Children With and Without Cochlear Implants

    Directory of Open Access Journals (Sweden)

    Amir-Abbas Ebrahimi

    2016-12-01

    Full Text Available  The aim of this study was to compare the static and dynamic balance performance of deaf children with and without cochlear implants. This is a cross-sectional study of 145 school children, aged between 7 and 12 years comprising 85 children with congenital or early acquired bilateral profound sensorineural hearing loss (the hearing loss group and 60 normal hearing aged-matched control counterparts were assessed using the balance subtest of Bruininks-Oseretsky test of Motor Proficiency (BOTMP. The hearing loss group, 50 without cochlear implants (the non-implant group and 35 of them with unilateral cochlear implants (the implant group were recruited from schools for the deaf and normal hearing children (the control group randomly selected from two randomly selected elementary schools of Tehran city. The scores were analyzed using one-way ANOVA. The total score of deaf children especially the implant group were significantly lower than the control group P<0.001. The balance performance of the control group was better than the implant group in all of the items as well as the non-implant group except the fourth tested item (walking forward on a line (P<0.05. The balance score of the implant group was significantly lower than the non-implant group except for the third tested item (standing on the preferred leg on a balance beam with eyes closed. The findings suggested that deaf children, specifically those with cochlear implants are at risk for motor and balance deficits. Thus, vestibular and motor evaluations, as well as interventions to improve balance and motor skills, should be prioritized for this population.

  4. [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.

  5. Sensorineural and conductive hearing loss in infants diagnosed in the program of universal newborn hearing screening.

    Science.gov (United States)

    Wroblewska-Seniuk, Katarzyna; Dabrowski, Piotr; Greczka, Grazyna; Szabatowska, Katarzyna; Glowacka, Agata; Szyfter, Witold; Mazela, Jan

    2018-02-01

    The aim of this study was to analyze infants diagnosed with sensorineural or conductive hearing deficit and to identify risk factors associated with these defects. A retrospective analysis of infants diagnosed with hearing deficit based on the database of the universal newborn hearing screening program and medical records of the patients. 27 935 infants were covered by the universal neonatal hearing screening program. 109 (0.39%) were diagnosed with hearing deficit and referred for treatment and rehabilitation. 56 (51.4%) children were diagnosed with conductive, 38 (34.9%) with sensorineural and 15 (13.8%) with mixed type of hearing deficit. Children with sensorineural hearing deficit more frequently suffered from hyperbilirubinemia (p conductive hearing loss were more frequently diagnosed with isolated craniofacial anomalies (p hearing deficit occurred almost 3 times more often bilaterally than unilaterally (p hearing deficit, the difference was not significant. In children with conductive and mixed type of hearing loss the impairment was mainly mild while among those with sensorineural hearing deficit in almost 45% it was severe and profound (p hearing screening test by means of otoacoustic emissions and the final diagnosis of hearing deficit we found that the highest agreement rate was observed in children with sensorineural hearing loss (p hearing deficit was similar in children with sensorineural, conductive and mixed type of hearing loss, only hyperbilirubinemia seemed to predispose to sensorineural hearing deficit and isolated craniofacial malformations seemed to be associated with conductive hearing loss. Sensorineural hearing deficit usually occurred bilaterally and was severe or profound, while conductive and mixed type of hearing deficit were most often of mild degree. Most children with the final diagnosis of sensorineural hearing deficit had positive result of hearing screening by means of otoacoustic emissions. Copyright © 2017 Elsevier B.V. All

  6. Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome

    Directory of Open Access Journals (Sweden)

    Gisele Viana de Oliveira

    2003-01-01

    Full Text Available We report on a 22-year-old male patient and his father, both presenting with congenital sensorineural deafness, diffuse palmoplantar keratoderma and knuckle pads. These findings are similar to those previously described in the Bart-Pumphrey syndrome, a rare autosomal dominant disorder. Several conditions including keratoderma and deafness are briefly reviewed.

  7. Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome

    Directory of Open Access Journals (Sweden)

    Abramowicz Marc

    2008-10-01

    Full Text Available Abstract Harboyan syndrome is a degenerative corneal disorder defined as congenital hereditary endothelial dystrophy (CHED accompanied by progressive, postlingual sensorineural hearing loss. To date, 24 cases from 11 families of various origin (Asian Indian, South American Indian, Sephardi Jewish, Brazilian Portuguese, Dutch, Gypsy, Moroccan, Dominican have been reported. More than 50% of the reported cases have been associated with parental consanguinity. The ocular manifestations in Harboyan syndrome include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. They are apparent at birth or within the neonatal period and are indistinguishable from those characteristic of the autosomal recessive CHED (CHED2. Hearing deficit in Harboyan is slowly progressive and typically found in patients 10–25 years old. There are no reported cases with prelinglual deafness, however, a significant hearing loss in children as young as 4 years old has been detected by audiometry, suggesting that hearing may be affected earlier, even at birth. Harboyan syndrome is caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13-p12, indicating that CHED2 and Harboyan syndrome are allelic disorders. A total of 62 different SLC4A11 mutations have been reported in 98 families (92 CHED2 and 6 Harboyan. All reported cases have been consistent with autosomal recessive transmission. Diagnosis is based on clinical criteria, detailed ophthalmological assessment and audiometry. A molecular confirmation of the clinical diagnosis is feasible. A variety of genetic, metabolic, developmental and acquired diseases presenting with clouding of the cornea should be considered in the differential diagnosis (Peters anomaly, sclerocornea, limbal dermoids, congenital glaucoma. Audiometry must be performed to differentiate Harboyan syndrome from CHED2. Autosomal recessive types of CHED (CHED2 and

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  9. 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.

  10. Epidemiology of prelingual sensorineural hearing impairment at a children’s center in Bogotá, Colombia between 1997 and 2008

    OpenAIRE

    Claudia Talero-Gutiérrez; Liliana Romero; Irma Carvajalino; Milciades Ibáñez

    2011-01-01

    Introduction: Hearing loss is a frequent problem in childhood with an incidence of about one case per 1000 births. Control of deafness should be aimed at prevention and early diagnosis in efforts to provide appropriate treatment and stimulate adequate communication in children affected. The objective of this study was to determine the prevalence of different etiologies among deaf children with a diagnosis of prelingual sensorineural hearing loss referred to the Fundación CINDA in Bogotá, Colo...

  11. Neurodevelopmental Disorders in Children with Severe to Profound Sensorineural Hearing Loss: A Clinical Study

    Science.gov (United States)

    Chilosi, Anna M.; Comparini, Alessandro; Scusa, Maria F.; Berrettini, Stefano; Forli, Francesca; Battini, Roberta; Cipriani, Paola; Cioni, Giovanni

    2010-01-01

    Aim: The effects of sensorineural hearing loss (SNHL) are often complicated by additional disabilities, but the epidemiology of associated disorders is not clearly defined. The aim of this study was to evaluate the frequency and type of additional neurodevelopmental disabilities in a sample of children with SNHL and to investigate the relation…

  12. The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome.

    Science.gov (United States)

    Kletke, S; Batmanabane, V; Dai, T; Vincent, A; Li, S; Gordon, K A; Papsin, B C; Cushing, S L; Héon, E

    2017-07-01

    The co-occurrence of hearing impairment and visual dysfunction is devastating. Most deaf-blind etiologies are genetically determined, the commonest being Usher syndrome (USH). While studies of the congenitally deaf population reveal a variable degree of visual problems, there are no effective ophthalmic screening guidelines. We hypothesized that children with congenital sensorineural hearing loss (SNHL) and vestibular impairment were at an increased risk of having USH. A retrospective chart review of 33 cochlear implants recipients for severe to profound SNHL and measured vestibular dysfunction was performed to determine the ocular phenotype. All the cases had undergone ocular examination and electroretinogram (ERG). Patients with an abnormal ERG underwent genetic testing for USH. We found an underlying ocular abnormality in 81.81% (27/33) of cases; of which 75% had refractive errors, and 50% of those patients showed visual improvement with refractive correction. A total of 14 cases (42.42%; 14/33) had generalized rod-cone dysfunction on ERG suggestive of Usher syndrome type 1, confirmed by mutational analysis. This work shows that adding vestibular impairment as a criterion for requesting an eye exam and adding the ERG to detect USH increases the chances of detecting ocular anomalies, when compared with previous literature focusing only on congenital SNHL. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  13. 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 ...

  14. Molecular epidemiology of DFNB1 deafness in France

    Directory of Open Access Journals (Sweden)

    Molinari Nicolas

    2004-03-01

    Full Text Available Abstract Background Mutations in the GJB2 gene have been established as a major cause of inherited non syndromic deafness in different populations. A high number of sequence variations have been described in the GJB2 gene and the associated pathogenic effects are not always clearly established. The prevalence of a number of mutations is known to be population specific, and therefore population specific testing should be a prerequisite step when molecular diagnosis is offered. Moreover, population studies are needed to determine the contribution of GJB2 variants to deafness. We present our findings from the molecular diagnostic screening of the GJB2 and GJB6 genes over a three year period, together with a population-based study of GJB2 variants. Methods and results Molecular studies were performed using denaturing High Performance Liquid Chromatograghy (DHPLC and sequencing of the GJB2 gene. Over the last 3 years we have studied 159 families presenting sensorineural hearing loss, including 84 with non syndromic, stable, bilateral deafness. Thirty families were genotyped with causative mutations. In parallel, we have performed a molecular epidemiology study on more than 3000 dried blood spots and established the frequency of the GJB2 variants in our population. Finally, we have compared the prevalence of the variants in the hearing impaired population with the general population. Conclusion Although a high heterogeneity of sequence variation was observed in patients and controls, the 35delG mutation remains the most common pathogenic mutation in our population. Genetic counseling is dependent on the knowledge of the pathogenicity of the mutations and remains difficult in a number of cases. By comparing the sequence variations observed in hearing impaired patients with those sequence variants observed in general population, from the same ethnic background, we show that the M34T, V37I and R127H variants can not be responsible for profound or severe

  15. Dental Treatments under the General Anesthesia in a Child with Keratitis, Ichthyosis, and Deafness Syndrome

    Directory of Open Access Journals (Sweden)

    Sera Sımsek Derelioglu

    2013-01-01

    Full Text Available KID syndrome is a rare genodermatosis characterized by keratitis, ichthyosis, and sensorineural deafness. Although the dermatological, ophthalmologic, and sensorineural defects are emphasized in the literature, oral and dental evaluations are so superficial. In this case report, dental and oral symptoms of a three year and five months old boy with KID syndrome, suffering severe Early Childhood Caries (s-ECC and dental treatments done under General Anesthesia (GA were reported.

  16. 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.

  17. 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…

  18. Genetic frequencies related to severe or profound sensorineural hearing loss in Inner Mongolia Autonomous Region

    Directory of Open Access Journals (Sweden)

    Yongzhi Liu

    Full Text Available Abstract The aim was to study the frequencies of common deafness-related mutations and their contribution to hearing loss in different regions of Inner Mongolia. A total of 738 deaf children were recruited from five different ethnic groups of Inner Mongolia, including Han Chinese (n=486, Mongolian (n=216, Manchurian (n=24, Hui (n=6 and Daur (n=6. Nine common mutations in four genes (GJB2, SLC26A4, GJB3 and mitochondrial MT-RNR1 gene were detected by allele-specific PCR and universal array. At least one mutated allele was detected in 282 patients. Pathogenic mutations were detected in 168 patients: 114 were homozygotes and 54 were compound heterozygotes. The 114 patients were carriers of only one mutated allele. The frequency of GJB2 variants in Han Chinese (21.0% was higher than that in Mongolians (16.7%, but not significantly different. On the other hand, the frequency of SLC26A4 variants in Han Chinese (14.8% was lower than that in Mongolians (19.4%, but also not significantly different. The frequency of patients with pathogenic mutations was different in Ulanqab (21.4%, Xilingol (40.0%, Chifeng (40.0%, Hulunbeier (30.0%, Hohhot (26.3%, and in Baotou (0%. In conclusion, the frequency of mutated alleles in deafness-related genes did not differ between Han Chinese and Mongolians. However, differences in the distribution of common deafness-related mutations were found among the investigated areas of Inner Mongolia.

  19. 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.

  20. Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndrome

    Directory of Open Access Journals (Sweden)

    Mohi Ahmed

    2015-09-01

    Full Text Available WHSC1 is a histone methyltransferase (HMT that catalyses the addition of methyl groups to lysine 36 on histone 3. In humans, WHSC1 haploinsufficiency is associated with all known cases of Wolf-Hirschhorn syndrome (WHS. The cardinal feature of WHS is a craniofacial dysmorphism, which is accompanied by sensorineural hearing loss in 15% of individuals with WHS. Here, we show that WHSC1-deficient mice display craniofacial defects that overlap with WHS, including cochlea anomalies. Although auditory hair cells are specified normally, their stereocilia hair bundles required for sound perception fail to develop the appropriate morphology. Furthermore, the orientation and cellular organisation of cochlear hair cells and their innervation are defective. These findings identify, for the first time, the likely cause of sensorineural hearing loss in individuals with WHS.

  1. Ellis-van Creveld Syndrome and Profound Deafness Resulted by ...

    Indian Academy of Sciences (India)

    Navya

    2017-04-04

    Apr 4, 2017 ... 2007) accounting for 3% to 5% of deafness in European, ... the blood samples was extracted from peripheral-blood lymphocytes by standard procedures. ... In the family A, affected members IV-1, IV-4 and IV-5 were 10, 14 and 16 years ..... Muhammad Umair was supported by International Research ...

  2. Moving Beyond GDP: Cost Effectiveness of Cochlear Implantation and Deaf Education in Latin America.

    Science.gov (United States)

    Emmett, Susan D; Tucci, Debara L; Bento, Ricardo F; Garcia, Juan M; Juman, Solaiman; Chiossone-Kerdel, Juan A; Liu, Ta J; de Muñoz, Patricia Castellanos; Ullauri, Alejandra; Letort, Jose J; Mansilla, Teresita; Urquijo, Diana P; Aparicio, Maria L; Gong, Wenfeng; Francis, Howard W; Saunders, James E

    2016-09-01

    Cochlear implantation (CI) and deaf education are cost effective management strategies of childhood profound sensorineural hearing loss in Latin America. CI has been widely established as cost effective in North America and Europe and is considered standard of care in those regions, yet cost effectiveness in other economic environments has not been explored. With 80% of the global hearing loss burden existing in low- and middle-income countries, developing cost effective management strategies in these settings is essential. This analysis represents the continuation of a global assessment of CI and deaf education cost effectiveness. Brazil, Colombia, Ecuador, Guatemala, Paraguay, Trinidad and Tobago, and Venezuela participated in the study. A Disability Adjusted Life Years model was applied with 3% discounting and 10-year length of analysis. Experts from each country supplied cost estimates from known costs and published data. Sensitivity analysis was performed to evaluate the effect of device cost, professional salaries, annual number of implants, and probability of device failure. Cost effectiveness was determined using the World Health Organization standard of cost effectiveness ratio/gross domestic product per capita (CER/GDP)GDP 0.07-0.93). CI was cost effective in all countries (CER/GDP 0.69-2.96), with borderline cost effectiveness in the Guatemalan sensitivity analysis (Max CER/GDP 3.21). Both cochlear implantation and deaf education are widely cost effective in Latin America. In the lower-middle income economy of Guatemala, implant cost may have a larger impact. GDP is less influential in the middle- and high-income economies included in this study.

  3. Strategies for Working with Children with Cochlear Implants

    Science.gov (United States)

    Schraer-Joiner, Lyn; Prause-Weber, Manuela

    2009-01-01

    According to the National Institute on Deafness and Other Communication Disorders, 23,000 individuals in the United States, including 10,000 children, have a cochlear implant. This biomedical electronic device has been a breakthrough in the auditory rehabilitation of individuals diagnosed with severe or profound sensorineural hearing losses who…

  4. Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndrome.

    Science.gov (United States)

    Ahmed, Mohi; Ura, Kiyoe; Streit, Andrea

    2015-09-01

    WHSC1 is a histone methyltransferase (HMT) that catalyses the addition of methyl groups to lysine 36 on histone 3. In humans, WHSC1 haploinsufficiency is associated with all known cases of Wolf-Hirschhorn syndrome (WHS). The cardinal feature of WHS is a craniofacial dysmorphism, which is accompanied by sensorineural hearing loss in 15% of individuals with WHS. Here, we show that WHSC1-deficient mice display craniofacial defects that overlap with WHS, including cochlea anomalies. Although auditory hair cells are specified normally, their stereocilia hair bundles required for sound perception fail to develop the appropriate morphology. Furthermore, the orientation and cellular organisation of cochlear hair cells and their innervation are defective. These findings identify, for the first time, the likely cause of sensorineural hearing loss in individuals with WHS. © 2015. Published by The Company of Biologists Ltd.

  5. 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,…

  6. 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.

  7. 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.

  8. Educating Children Who Are Deaf or Hard of Hearing: Overview. ERIC Digest #E549.

    Science.gov (United States)

    Easterbrooks, Susan

    This digest discusses hearing loss in children. Topics covered include: (1) the causes of hearing loss and the three major types of hearing losses, conductive loss, sensorineural loss, and central auditory processing disorder; (2) the federal definitions of "deaf" (hearing loss which adversely affects educational performance and which is…

  9. Altered Brain Functional Activity in Infants with Congenital Bilateral Severe Sensorineural Hearing Loss: A Resting-State Functional MRI Study under Sedation

    Directory of Open Access Journals (Sweden)

    Shuang Xia

    2017-01-01

    Full Text Available Early hearing deprivation could affect the development of auditory, language, and vision ability. Insufficient or no stimulation of the auditory cortex during the sensitive periods of plasticity could affect the function of hearing, language, and vision development. Twenty-three infants with congenital severe sensorineural hearing loss (CSSHL and 17 age and sex matched normal hearing subjects were recruited. The amplitude of low frequency fluctuations (ALFF and regional homogeneity (ReHo of the auditory, language, and vision related brain areas were compared between deaf infants and normal subjects. Compared with normal hearing subjects, decreased ALFF and ReHo were observed in auditory and language-related cortex. Increased ALFF and ReHo were observed in vision related cortex, which suggest that hearing and language function were impaired and vision function was enhanced due to the loss of hearing. ALFF of left Brodmann area 45 (BA45 was negatively correlated with deaf duration in infants with CSSHL. ALFF of right BA39 was positively correlated with deaf duration in infants with CSSHL. In conclusion, ALFF and ReHo can reflect the abnormal brain function in language, auditory, and visual information processing in infants with CSSHL. This demonstrates that the development of auditory, language, and vision processing function has been affected by congenital severe sensorineural hearing loss before 4 years of age.

  10. GDP Matters: Cost Effectiveness of Cochlear Implantation and Deaf Education in Sub-Saharan Africa.

    Science.gov (United States)

    Emmett, Susan D; Tucci, Debara L; Smith, Magteld; Macharia, Isaac M; Ndegwa, Serah N; Nakku, Doreen; Mukara, Kaitesi B; Kaitesi, Mukara B; Ibekwe, Titus S; Mulwafu, Wakisa; Gong, Wenfeng; Francis, Howard W; Saunders, James E

    2015-09-01

    Cochlear implantation and deaf education are cost effective in Sub-Saharan Africa. Cost effectiveness of pediatric cochlear implantation has been well established in developed countries but is unknown in low resource settings, where access to the technology has traditionally been limited. With incidence of severe-to-profound congenital sensorineural hearing loss 5 to 6 times higher in low/middle-income countries than the United States and Europe, developing cost-effective management strategies in these settings is critical. Costs were obtained from experts in Nigeria, South Africa, Kenya, Rwanda, Uganda, and Malawi using known costs and published data, with estimation when necessary. A disability adjusted life years (DALY) model was applied using 3% discounting and 10-year length of analysis. Sensitivity analysis was performed to evaluate the effect of device cost, professional salaries, annual number of implants, and probability of device failure. Cost effectiveness was determined using the WHO standard of cost-effectiveness ratio/gross domestic product per capita (CER/GDP) less than 3. Cochlear implantation was cost effective in South Africa and Nigeria, with CER/GDP of 1.03 and 2.05, respectively. Deaf education was cost effective in all countries investigated, with CER/GDP ranging from 0.55 to 1.56. The most influential factor in the sensitivity analysis was device cost, with the cost-effective threshold reached in all countries using discounted device costs that varied directly with GDP. Cochlear implantation and deaf education are equally cost effective in lower-middle and upper-middle income economies of Nigeria and South Africa. Device cost may have greater impact in the emerging economies of Kenya, Uganda, Rwanda, and Malawi.

  11. Characteristics of hearing loss in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome

    NARCIS (Netherlands)

    van Looij, Marjolein A. J.; Meijers-Heijboer, Hanne; Beetz, Rolf; Thakker, Rajesh V.; Christie, Paul T.; Feenstra, Lou W.; van Zanten, Bert G. A.

    2006-01-01

    Haploinsufficiency of the zinc finger transcription factor GATA3 causes the triad of hypoparathyroidism, deafness and renal dysplasia, known by its acronym HDR syndrome. The purpose of the current study was to describe in detail the auditory phenotype in human HDR patients and compare these to

  12. Clinical and experimental studies on the sensorineural hearing loss caused by irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Yamamoto, M [Kobe Univ. (Japan). School of Medicine

    1979-08-01

    In our study, 43 patients whose ears were presumably irradiated, were examined periodically before and after the irradiation; 10 were found to be affected by the sensorineural hearing loss, and these 10 were classified into two types. Type I; Patients of this group had a hearing impairment during or soon after irradiation and usually revealed marked deterioration of bone conduction in high frequencies accompanied by worsening of air conduction in low frequencies. The impaired hearing of this group soon recovered to the pre-treatment level. Type II; Patients of this group developed a slow progressive sensorineural hearing loss. They noticed the deafness with tinnitus several months after irradiation. To clarify the mechanism of the sensorineural hearing loss, histopathological investigations were done using nembutal anesthetized guinea pigs which were irradiated in the confined ear region unilaterally. We also examined histopathologically one human temporal bone belonging to a patient who had been irradiated for middle ear carcinoma. The histopathology of the guinea pigs and human case revealed the following conclusions: Type I hearing loss may be caused by toxic labyrinthitis secondary to the radiation otitis media or by the aseptic labyrinthitis as the result of hyperemia and increased permeability of the irradiated blood vessels in the cochlea. Type II hearing loss may be caused by the late rediation response of the cochleal blood vessels i.e. by the vasculitis which gives rise to obliteration of the vascular lumen and affects the blood supply of the hair cells.

  13. Clinical and experimental studies on the sensorineural hearing loss caused by irradiation

    International Nuclear Information System (INIS)

    Yamamoto, Matsunori

    1979-01-01

    In our study, 43 patients whose ears were presumably irradiated, were examined periodically before and after the irradiation; 10 were found to be affected by the sensorineural hearing loss, and these 10 were classified into two types. Type I; Patients of this group had a hearing impairment during or soon after irradiation and usually revealed marked deterioration of bone conduction in high frequencies accompanied by worsening of air conduction in low frequencies. The impaired hearing of this group soon recovered to the pre-treatment level. Type II; Patients of this group developed a slow progressive sensorineural hearing loss. They noticed the deafness with tinnitus several months after irradiation. To clarify the mechanism of the sensorineural hearing loss, histopathological investigations were done using nembutal anesthetized guinea pigs which were irradiated in the confined ear region unilaterally. We also examined histopathologically one human temporal bone belonging to a patient who had been irradiated for middle ear carcinoma. The histopathology of the guinea pigs and human case revealed the following conclusions: Type I hearing loss may be caused by toxic labyrinthitis secondary to the radiation otitis media or by the aseptic labyrinthitis as the result of hyperemia and increased permeability of the irradiated blood vessels in the cochlea. Type II hearing loss may be caused by the late rediation response of the cochleal blood vessels i.e. by the vasculitis which gives rise to obliteration of the vascular lumen and affects the blood supply of the hair cells. (author)

  14. Marinesco-Sjogren Syndrome With Sensori Neural Deafness And Primary Optic Atrophy

    Directory of Open Access Journals (Sweden)

    Aleem M A

    1999-01-01

    Full Text Available Marinesco-Sjogren syndrome (MSS is a rare genetically determined disorder characterised by bilateral cataract, cerebellar ataxia and mental deficiency. The pattern of inheritance is autosomal recessive but it may be variable. In MSS association of hyperlactacidaemia and hypopyruvicaemia, a defective oxidative phosphorylation in mitochondria, is supposed. We are reporting three patients of MSS along with sensorineural deafness and optic atrophy from a single Indian family.

  15. [Acute sensorineural hearing loss at the Otorhinolaryngology Department of the General Hospital in Subotica 1991-1996].

    Science.gov (United States)

    Rakić, N

    1999-01-01

    Sudden sensorineural hearing loss is an acute hearing loss of a perceptive type, of unknown etiology, in most cases one-sided, or, a every sudden sensorineural deafness that occurs in the period of three days or less. Modern scientific literature points to three possible etiological factors: viral cochleitis, vascular lesion of the labyrinth and unrecognized rupture of the membranous labyrinth. The therapy for this disease is extremely various. There are dozens of reported different (or similar) healing protocols, including vasodilators, Hydroxyethyl starch, low molecular dextran, diuretics, defibrinogenation, fibrmolytic therapy, steroids, prostacyclin, oxygen therapy, hyperbaric oxygen therapy, vitamins, etc. The aim of the study was to recapitulate in brief modern views of etiology and therapy of the sudden sensorineural hearing loss, to analyze cases of this illness within the period of 1991-1996 in our Otorhinolaryngology Department and to compare these data with the same or similar data of other authors. In this study, medical records of patients admitted in the period of 1991-1996 in the Otorhinolaryngology Department of the Health Center in Subotica with a diagnosis of sudden sensorineural hearing loss were used. There were 53 patients with this diagnosis. All patients were treated in the hospital with infusions of rheoactive drugs. During the diagnostic procedure, all patients underwent a complete clinical otorhinolaryngologic examination, detailed anamnesis was taken, acoustic impedance tests (tympanometry) and tonal liminal audiometry were performed. Routine blood test was made (including complete blood picture, sedimentation rate, blood sugar) and a complete urine examination. Sometimes we demanded x-ray of the temporal bones (Schnller and Stenwers). A short increment sensitivity index (SISI) test and Carhart test were also made, if necessary. Function of the vestibular system was tested in cases when the vestibular symptoms were more strongly expressed

  16. 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...

  17. 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 their hearing families is scarce despite the majority of deaf children ... Methods: A case study design which included quantitative and qualitative components was used to observe a nine year old grade one child with profound hearing loss.

  18. Cochlear implantation for severe sensorineural hearing loss caused by lightning.

    Science.gov (United States)

    Myung, Nam-Suk; Lee, Il-Woo; Goh, Eui-Kyung; Kong, Soo-Keun

    2012-01-01

    Lightning strike can produce an array of clinical symptoms and injuries. It may damage multiple organs and cause auditory injuries ranging from transient hearing loss and vertigo to complete disruption of the auditory system. Tympanic-membrane rupture is relatively common in patients with lightning injury. The exact pathogenetic mechanisms of auditory lesions in lightning survivors have not been fully elucidated. We report the case of a 45-year-old woman with bilateral profound sensorineural hearing loss caused by a lightning strike, who was successfully rehabilitated after a cochlear implantation. Copyright © 2012 Elsevier Inc. All rights reserved.

  19. Heritability and complex segregation analysis of deafness in Jack Russell Terriers

    Directory of Open Access Journals (Sweden)

    Strain George M

    2007-11-01

    Full Text Available Abstract Background The association between patterns of pigmentation and deafness in the dog has a long-documented history, with reports dating back over one hundred years. Long suspected of having a genetic basis, the search for loci with a pronounced influence in the expression of hearing loss in the dog has yet to be successful. No studies in the dog to date have found a possible influence of a specific colour locus associated with deafness. The present study is intended to evaluate the heritability of deafness in the Jack Russell Terrier (JRT, characterize the mode of inheritance, and evaluate the existence of a sex, coat colour, or coat texture influence on the expression of sensorineural deafness. Results The estimation of heritability of deafness in the JRT was 0.22 when deafness was considered a binary (normal/deaf trait and 0.31 when deafness was considered a three-category (normal/unilateral/bilateral deafness. The influence of coat colour in the incidence of JRT deafness was statistically significant, indicating that dogs with more white are more likely to be deaf. The influence of sex or coat texture was not statistically significant in the incidence of JRT deafness. Complex segregation analysis revealed a model of a single locus with a large effect on the binary measure of hearing loss is not supported. Conclusion This is the first attempt, to our knowledge, to characterize a genetic component responsible for deafness in the JRT. The heritability of deafness in the JRT was found to be 0.22 and 0.31 considering deafness to be a two-category or three-category trait, respectively. There appears to be an influence of coat colour on the expression of deafness. In an attempt to characterize the mode of inheritance of deafness in the JRT, a model of a single locus with a large effect on hearing loss is not supported with this data. Further study is needed to determine if a single locus may be influencing deafness in the JRT. While the

  20. Music lessons improve auditory perceptual and cognitive performance in deaf children.

    Science.gov (United States)

    Rochette, Françoise; Moussard, Aline; Bigand, Emmanuel

    2014-01-01

    Despite advanced technologies in auditory rehabilitation of profound deafness, deaf children often exhibit delayed cognitive and linguistic development and auditory training remains a crucial element of their education. In the present cross-sectional study, we assess whether music would be a relevant tool for deaf children rehabilitation. In normal-hearing children, music lessons have been shown to improve cognitive and linguistic-related abilities, such as phonetic discrimination and reading. We compared auditory perception, auditory cognition, and phonetic discrimination between 14 profoundly deaf children who completed weekly music lessons for a period of 1.5-4 years and 14 deaf children who did not receive musical instruction. Children were assessed on perceptual and cognitive auditory tasks using environmental sounds: discrimination, identification, auditory scene analysis, auditory working memory. Transfer to the linguistic domain was tested with a phonetic discrimination task. Musically trained children showed better performance in auditory scene analysis, auditory working memory and phonetic discrimination tasks, and multiple regressions showed that success on these tasks was at least partly driven by music lessons. We propose that musical education contributes to development of general processes such as auditory attention and perception, which, in turn, facilitate auditory-related cognitive and linguistic processes.

  1. Music lessons improve auditory perceptual and cognitive performance in deaf children

    Directory of Open Access Journals (Sweden)

    Françoise eROCHETTE

    2014-07-01

    Full Text Available Despite advanced technologies in auditory rehabilitation of profound deafness, deaf children often exhibit delayed cognitive and linguistic development and auditory training remains a crucial element of their education. In the present cross-sectional study, we assess whether music would be a relevant tool for deaf children rehabilitation. In normal-hearing children, music lessons have been shown to improve cognitive and linguistic-related abilities, such as phonetic discrimination and reading. We compared auditory perception, auditory cognition, and phonetic discrimination between 14 profoundly deaf children who completed weekly music lessons for a period of 1.5 to 4 years and 14 deaf children who did not receive musical instruction. Children were assessed on perceptual and cognitive auditory tasks using environmental sounds: discrimination, identification, auditory scene analysis, auditory working memory. Transfer to the linguistic domain was tested with a phonetic discrimination task. Musically-trained children showed better performance in auditory scene analysis, auditory working memory and phonetic discrimination tasks, and multiple regressions showed that success on these tasks was at least partly driven by music lessons. We propose that musical education contributes to development of general processes such as auditory attention and perception, which, in turn, facilitate auditory-related cognitive and linguistic processes.

  2. ASL Handshape Stories, Word Recognition and Signing Deaf Readers: An Exploratory Study

    Science.gov (United States)

    Gietz, Merrilee R.

    2013-01-01

    The effectiveness of using American Sign Language (ASL) handshape stories to teach word recognition in whole stories using a descriptive case study approach was explored. Four profoundly deaf children ages 7 to 8, enrolled in a self-contained deaf education classroom in a public school in the south participated in the story time five-week…

  3. Sensorineural hearing loss in children.

    LENUS (Irish Health Repository)

    Wormald, R

    2010-02-01

    The objective of the study was to examine the aetiology of sensorineural hearing loss (SNHL) in a paediatric population presenting to the National Centre of Medical Genetics. A retrospective chart review from 1998 to 2006. One hundred and twenty nine children were investigated for SNHL. The average age of diagnosis of hearing loss was 36 months. The degree of hearing loss was mild in 8 children, moderate in 33 children, severe in 31 children and profound in 57 children. Eighty-five children (66%) were diagnosed with a hereditary hearing loss, 11 (8%) children had an acquired hearing loss and no cause found in 33 (26%) children. This is the first report of the causes of hearing loss in Irish children. The mean age of diagnosis in our cohort is high and emphasises the need for a neonatal screening programme. There remains a number of children for whom the cause of hearing loss remains unknown.

  4. 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…

  5. 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.

  6. The relationship between neonatal hyperbilirubinemia and sensorineural hearing loss.

    Science.gov (United States)

    Corujo-Santana, Cándido; Falcón-González, Juan Carlos; Borkoski-Barreiro, Silvia Andrea; Pérez-Plasencia, Daniel; Ramos-Macías, Ángel

    2015-01-01

    Severe jaundice that requires exchange transfusion has become a relatively rare situation today. About 60% of full term neonates and 80% of premature ones will suffer from jaundice within the first week of life. Hyperbilirubinemia at birth is a risk factor associated with hearing loss that is usually further linked to other factors that might have an effect on hearing synergistically. This study aimed to identify the relationship between hyperbilirubinemia at birth as a risk factor for sensorineural hearing loss in children born at Complejo Hospitalario Universitario Insular Materno-Infantil de Gran Canaria, in the 2007-2011 period. This was a retrospective study of 796 newborns that had hyperbilirubinemia at birth, using transient evoked otoacoustic emissions and evoked auditory brainstem response. Hundred eighty-five newborns (23.24%) were referred for evoked auditory brainstem response. Hearing loss was diagnosed for 35 (4.39%): 18 neonates (51.43%) with conductive hearing loss and 17 (48.57%) with sensorineural hearing loss, 3 of which were diagnosed as bilateral profound hearing loss. Half of the children had other risk factors associated, the most frequent being exposure to ototoxic medications. The percentage of children diagnosed with sensorineural hearing loss that suffered hyperbilirubinemia at birth is higher than for the general population. Of those diagnosed, none had levels of indirect bilirubin≥20mg/dl, only 47% had hyperbilirubinemia at birth as a risk factor and 53% had another auditory risk factor associated. Copyright © 2014 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Patología Cérvico-Facial. All rights reserved.

  7. The Contribution of Verbal Working Memory to Deaf Children's Oral and Written Production

    Science.gov (United States)

    Arfé, Barbara; Rossi, Cristina; Sicoli, Silvia

    2015-01-01

    This study investigated the contribution of verbal working memory to the oral and written story production of deaf children. Participants were 29 severely to profoundly deaf children aged 8-13 years and 29 hearing controls, matched for grade level. The children narrated a picture story orally and in writing and performed a reading comprehension…

  8. COCHLEAR IMPLANTATION IN A PATIENT WITH USHER'S SYNDROME

    OpenAIRE

    Derinsu, Ufuk; Ciprut, Ayca

    2016-01-01

    Usher's Syndrome is an autosomal recessive disorder characterized by congenital hearing loss and retinitis pigmentosa. Usher’s Syndrome patients with severe to profound sensorineural hearing loss can be considered as candidates for cochlear implantation.This case study reports a deaf-blind with Usher's Syndrome who received a cochlear implant, the audiological evaluation is presented and the therapy sessions are discussed. The patient demonstrated good performance overtime after the...

  9. Cochlear ımplantatıon ın a patıent wıth usher's syndrome

    OpenAIRE

    Derinsu, Ufuk; Ciprut, Ayca

    2002-01-01

    Usher's Syndrome is an autosomal recessive disorder characterized by congenital hearing loss and retinitis pigmentosa. Usher’s Syndrome patients with severe to profound sensorineural hearing loss can be considered as candidates for cochlear implantation. This case study reports a deaf-blind with Usher's Syndrome who received a cochlear implant, the audiological evaluation is presented and the therapy sessions are discussed. The patient demonstrated good performance overtime after the impla...

  10. Diffusion tensor imaging of the auditory nerve in patients with long-term single-sided deafness

    NARCIS (Netherlands)

    Vos, Sjoerd; Haakma, Wieke; Versnel, Huib; Froeling, Martijn; Speleman, Lucienne; Dik, Pieter; Viergever, Max A.; Leemans, Alexander; Grolman, Wilko

    A cochlear implant (CI) can restore hearing in patients with profound sensorineural hearing loss by direct electrical stimulation of the auditory nerve. Therefore, the viability of the auditory nerve is vitally important in successful hearing recovery. However, the nerve typically degenerates

  11. Ectodermal dysplasia with alopecia, onychodysplasia, hypohidrosis, keratoderma, abnormal teeth and deafness

    Directory of Open Access Journals (Sweden)

    Akhyani Maryam

    2007-01-01

    Full Text Available The ectodermal dysplasias are a heterogeneous group of disorders with primary defect in hair, teeth, nail and sweat gland function. Numerous types have been described and several classifications exist. Here, we present a patient with ectodermal dysplasia with alopecia, dysplastic nails, hypohidrosis, sensorineural deafness, palmoplantar keratoderma, abnormal teeth and dry skin. To our knowledge, combination of all these features in ectodermal dysplasia has not been reported in the past. The etiology is unknown, but consanguinity of parents points to an autosomal recessive inheritance.

  12. Congenital sensorineural hearing loss

    International Nuclear Information System (INIS)

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-01-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems

  13. Congenital sensorineural hearing loss

    Energy Technology Data Exchange (ETDEWEB)

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-02-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems.

  14. An acoustic analysis of laughter produced by congenitally deaf and normally hearing college students1

    Science.gov (United States)

    Makagon, Maja M.; Funayama, E. Sumie; Owren, Michael J.

    2008-01-01

    Relatively few empirical data are available concerning the role of auditory experience in nonverbal human vocal behavior, such as laughter production. This study compared the acoustic properties of laughter in 19 congenitally, bilaterally, and profoundly deaf college students and in 23 normally hearing control participants. Analyses focused on degree of voicing, mouth position, air-flow direction, temporal features, relative amplitude, fundamental frequency, and formant frequencies. Results showed that laughter produced by the deaf participants was fundamentally similar to that produced by the normally hearing individuals, which in turn was consistent with previously reported findings. Finding comparable acoustic properties in the sounds produced by deaf and hearing vocalizers confirms the presumption that laughter is importantly grounded in human biology, and that auditory experience with this vocalization is not necessary for it to emerge in species-typical form. Some differences were found between the laughter of deaf and hearing groups; the most important being that the deaf participants produced lower-amplitude and longer-duration laughs. These discrepancies are likely due to a combination of the physiological and social factors that routinely affect profoundly deaf individuals, including low overall rates of vocal fold use and pressure from the hearing world to suppress spontaneous vocalizations. PMID:18646991

  15. The Effect of Vestibular Rehabilitation Therapy Program on Sensory Organization of Deaf Children With Bilateral Vestibular Dysfunction

    Directory of Open Access Journals (Sweden)

    Amir Abbas Ebrahimi

    2018-01-01

    Full Text Available The purpose of this study was to determine the effect of vestibular rehabilitation therapy program on the sensory organization of deaf children with bilateral vestibular dysfunction. This cross-sectional and analytic study was conducted on 24 students between the age of 7 and 12 years (6 girls and 18 boys with the profound sensorineural hearing loss (PTA>90 dB. They were assessed through the balance subtest in Bruininks-Oseretsky test of motor proficiency (BOTMP. For children which the total score of the balance subtest was 3 standard deviation lower than their peers with typical development, vestibular function testing was completed pre-intervention. Posturography Sensory organization testing (SOT was completed pre- and post-intervention with SPS (Synapsys, Marseille, France. Children with bilateral vestibular impairment were randomly assigned to either the exercise or control group. Exercise intervention consisted of compensatory training, emphasizing enhancement of visual and somatosensory function, and balance training. The exercise group entered in vestibular rehabilitation therapy program for 8 weeks. The children initially participating in the control group were provided the exercise intervention following the post-test. Based on the results there was significant difference in condition 5 and 6, areas of limits of stability (LOS, vestibular ratio and global score in posturography at the end of the intervention, but there was no significant difference in the control group in posturography (P<0.05. The results indicated that testing of vestibular, and postural control function, as well as intervention for deficiencies identified, should be included in deaf children rehabilitation program.

  16. [Analysis of the relevant factors for recurrent sudden sensorineural hearing loss].

    Science.gov (United States)

    Liang, H; Zhong, S X

    2016-09-07

    Objective: To investigate the possible factors related to recurrence and prognosis of sudden sensorineural hearing loss(SSNHL). Methods: Four hundred and ninety-five patients with unilateral sudden sensorineural hearing loss between January 2013 to April 2014 were analyzed retrospectively(34 patients lost to follow-up with a dropout rate of 6.87%). Twenty of the 495 patients were diagnosed as recurrent SSNHL and treated again in the same hospital. The data of the patients were summarized to analyze the related factors which might influence the recurrence and prognosis of SSNHL. Results: In the 20 patients with recurrent SSNHL, 19 had the second attack in same ear as the first attack, and the other one had in both ears. There were seven male patients, and thirteen female patients. Patients ranged in age from 24 to 77years, with a median age of 39.5 years. Types of hearing loss: low frequency in eight patients, high frequency in two patients, flat frequency in eight patients, total deafness in two patients, the types of the second attack in 17 patients were same as the first attack, only one patient was changed from total deafness to flat frequency, one case was changed from flat frequency to high frequency, one case changed from flat frequency to total deafness. The intervals between of the first attack time and the second attack time were 1-36 months with the median time of 3.5 months. After systemic oral and (or) transtympanic steroid treatment, recovered in three cases, effective in three cases and 14 cases invalid, the cure rate was 15%, and the total effective rate was 30%. There were statistically significant differences in the recovery rate(χ 2 =8.640, P vertigo and/or dizziness, with a history more than seven days, with hypertension or diabetes mellitus, and with a type of hearing loss except low frequency type, the treatment effect was invalid. The patients with hearing loss at low frequency had the best outcomes. The total effective rates were significant

  17. A mismatch negativity study in Mandarin-speaking children with sensorineural hearing loss.

    Science.gov (United States)

    Fu, Mingfu; Wang, Liyan; Zhang, Mengchao; Yang, Ying; Sun, Xibin

    2016-12-01

    a) To examine the effects of sensorineural hearing loss on the discriminability of linguistic and non-linguistic stimuli at the cortical level, and b) to examine whether the cortical responses differ based on the chronological age at intervention, the degree of hearing loss, or the acoustic stimulation mode in children with severe and profound hearing loss. Mismatch negativity (MMN) responses were collected from 43 children with severe and profound bilateral sensorineural hearing loss, and 20 children with normal hearing (age: 3-6 years). In the non-verbal stimulation condition, pure tones with frequencies of 1 kHz and 1.1 kHz were used as the standard and the deviant respectively. In the verbal stimulation condition, the Chinese mandarin tokens/ba2/and/ba4/were used as the standard and the deviant respectively. Latency and amplitude of the MMN responses were collected and analyzed. Overall, children with hearing loss showed longer latencies and lower amplitudes of the MMN responses to both non-verbal and verbal stimulations. The latency of the verbal/ba2/-/ba4/pair was longer than that of the nonverbal 1 kHz-1.1 kHz pair in both groups of children. Children with hearing loss, especially those who received intervention after 2 years of age, showed substantial weakness in the neural responses to lexical tones and pure tones. Thus, the chronological age when the children receive hearing intervention may have an impact on the effectiveness of discriminating between verbal and non-verbal signals. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  18. Bilateral sudden sensorineural deafness with vertigo as the sole presenting symptoms of diabetes mellitus - a case report.

    Science.gov (United States)

    Misra, Vilas; Agarwal, C G; Bhatia, Naresh; Shukla, G K

    2010-06-01

    This Paper reports a late uncontrolled diabetic presenting to an otolaryngologist with sudden severe sensorineural hearing loss of immediate origin with vertigo and tinnitus as the symptoms. Appropriate investigative and treatment measure resulted in deterioration of hearing in the right ear and mild improvement of hearing in the left ear, with no recovery of imbalance.

  19. Young Skilled Deaf Readers Have an Enhanced Perceptual Span in Reading.

    Science.gov (United States)

    Bélanger, Nathalie N; Lee, Michelle; Schotter, Elizabeth R

    2017-04-27

    Recently, Bélanger, Slattery, Mayberry and Rayner (2012) showed, using the moving window paradigm, that profoundly deaf adults have a wider perceptual span during reading relative to hearing adults matched on reading level. This difference might be related to the fact that deaf adults allocate more visual attention to simple stimuli in the parafovea (Bavelier, Dye & Hauser, 2006). Importantly, this reorganization of visual attention in deaf individuals is already manifesting in deaf children (Dye, Hauser & Bavelier, 2009). This leads to questions about the time course of the emergence of an enhanced perceptual span (which is under attentional control; Rayner, 2014; Miellet, O'Donnell, & Sereno, 2009) in young deaf readers. The present research addressed this question by comparing the perceptual spans of young deaf readers (age 7-15) and young hearing children (age 7-15). Young deaf readers, like deaf adults, were found to have a wider perceptual span relative to their hearing peers matched on reading level, suggesting that strong and early reorganization of visual attention in deaf individuals goes beyond the processing of simple visual stimuli and emerges into more cognitively complex tasks, such as reading.

  20. 38 CFR 17.149 - Sensori-neural aids.

    Science.gov (United States)

    2010-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 1 2010-07-01 2010-07-01 false Sensori-neural aids. 17... Prosthetic, Sensory, and Rehabilitative Aids § 17.149 Sensori-neural aids. (a) Notwithstanding any other provision of this part, VA will furnish needed sensori-neural aids (i.e., eyeglasses, contact lenses...

  1. 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.

  2. Handwriting in Signing Deaf Middle-School Students and Relationship with Text Composition and Spelling

    Science.gov (United States)

    Alamargot, Denis; Morin, Marie-France; Simard-Dupuis, Érika

    2018-01-01

    We set out to (i) assess the handwriting skills of signing deaf students, and (ii) examine the extent to which their text composition and spelling performances are linked to their handwriting efficiency. We asked 15 prelingually and profoundly deaf middle-school students (M = 15.18 years), all sign-language users, and a group of hearing students…

  3. Deafness and Mondini dysplasia in Kabuki (Niikawa-Kuroki) syndrome. Report of a case and review of the literature.

    Science.gov (United States)

    Toutain, A; Plée, Y; Ployet, M J; Benoit, S; Perrot, A; Sembely, C; Barthez, M A; Moraine, C

    1997-01-01

    Report of a case and review of the literature: We report the case of a seven-year-old female kabuki patient suffering from severe bilateral deafness related to Mondini dysplasia and ossicular anomalies. A review of the literature in English confirms that hearing loss is a major component of Kabuki Syndrome (KS) with a frequency at around 32%. However the possible mechanisms have not been fully described and hearing loss is often attributed to otitis media, but one reported case had severe ossicular malformations, two had sensorineural deafness and three others had mixed deafness. Our observation is the first reported case of Mondini dysplasia in KS. Awareness by physicians of this problem has a major practical consequence as diagnosis of Mondini dysplasia implies searching for and surgical prevention and treatment of perilymphatic fistula in order to prevent meningitis.

  4. 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

  5. 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...

  6. The Application of PECS in a Deaf Child with Autism: A Case Study

    Science.gov (United States)

    Malandraki, Georgia A.; Okalidou, Areti

    2007-01-01

    A 10-year-old nonverbal Greek boy, C.Z., who had been diagnosed with both bilateral sensorineural profound hearing loss and autism, was taught to use the Picture Exchange Communication System (PECS), with some modifications and extensions, over a 4-month intensive intervention period. C.Z.'s original communication and behavioral status as well as…

  7. [Syndromic hereditary deafness. Usher's syndrome. Oto-neurologic and genetic factors].

    Science.gov (United States)

    Espinós, C; Pérez-Garrigues, H; Beneyto, M; Vilela, C; Rodrigo, O; Nájera, C

    1999-01-01

    Usher syndrome (USH) is an autosomal recessive hereditary disorder characterized by congenital bilateral sensorineural hearing loss and progressive loss of vision due to retinitis pigmentosa (RP). The prevalence of Usher syndrome is estimated to be 3-4.4 cases per 100.000 people. Several clinical types have been distinguished by age at onset, rate of progression, and severity of symptoms. Type I (USH1) is characterized by a congenital, severe-to-profound deafness and absent vestibular function. Type II (USH2) shows a congenital and moderate-to-severe hearing loss and normal vestibular response. It is also suggested a third type (USH3), clinically similar to USH2, but with progressive hearing loss. Genetic heterogeneity of USH is quite extensive. Up to now, seven different loci responsible for the defect are known: 14q, 11q, 11p, 10q and 21q for USH1; 1q for USH2 and 3q for USH3. Moreover, there are USH1 and USH2 families that fail to show linkage to these candidate regions demonstrating that should exist other loci causing USH, although their ubications are unknown. To date, only two genes involved in the USH pathology are known, although together they are responsibles of about the 80% of total USH cases: myosin VIIA, an unconventional myosin, involved in the USH1b phenotype and a protein similar to the laminina, responsible for the USH2a phenotype.

  8. Bilateral sudden sensorineural deafness with vertigo as the sole presenting symptoms of diabetes mellitus — a case report

    OpenAIRE

    Misra, Vilas; Agarwal, C. G.; Bhatia, Naresh; Shukla, G. K.

    2010-01-01

    This Paper reports a late uncontrolled diabetic presenting to an otolaryngologist with sudden severe sensorineural hearing loss of immediate origin with vertigo and tinnitus as the symptoms. Appropriate investigative and treatment measure resulted in deterioration of hearing in the right ear and mild improvement of hearing in the left ear, with no recovery of imbalance.

  9. Developmental Disorders of Communication With Special Reference to Deaf Children With Additional Handicaps

    Science.gov (United States)

    Denmark, John C.

    1971-01-01

    Reviews 9 examples of "non-communicating children" whose probelms stem from: 1) intellectual impairment; 2) mental illness; 3) congenital verbal agnosia; 4) physical disease; or, 5) early profound deafness. (MB)

  10. Application of massively parallel sequencing to genetic diagnosis in multiplex families with idiopathic sensorineural hearing impairment.

    Directory of Open Access Journals (Sweden)

    Chen-Chi Wu

    Full Text Available Despite the clinical utility of genetic diagnosis to address idiopathic sensorineural hearing impairment (SNHI, the current strategy for screening mutations via Sanger sequencing suffers from the limitation that only a limited number of DNA fragments associated with common deafness mutations can be genotyped. Consequently, a definitive genetic diagnosis cannot be achieved in many families with discernible family history. To investigate the diagnostic utility of massively parallel sequencing (MPS, we applied the MPS technique to 12 multiplex families with idiopathic SNHI in which common deafness mutations had previously been ruled out. NimbleGen sequence capture array was designed to target all protein coding sequences (CDSs and 100 bp of the flanking sequence of 80 common deafness genes. We performed MPS on the Illumina HiSeq2000, and applied BWA, SAMtools, Picard, GATK, Variant Tools, ANNOVAR, and IGV for bioinformatics analyses. Initial data filtering with allele frequencies (0.95 prioritized 5 indels (insertions/deletions and 36 missense variants in the 12 multiplex families. After further validation by Sanger sequencing, segregation pattern, and evolutionary conservation of amino acid residues, we identified 4 variants in 4 different genes, which might lead to SNHI in 4 families compatible with autosomal dominant inheritance. These included GJB2 p.R75Q, MYO7A p.T381M, KCNQ4 p.S680F, and MYH9 p.E1256K. Among them, KCNQ4 p.S680F and MYH9 p.E1256K were novel. In conclusion, MPS allows genetic diagnosis in multiplex families with idiopathic SNHI by detecting mutations in relatively uncommon deafness genes.

  11. Sustained attention, selective attention and cognitive control in deaf and hearing children

    Science.gov (United States)

    Dye, Matthew W. G.; Hauser, Peter C.

    2014-01-01

    Deaf children have been characterized as being impulsive, distractible, and unable to sustain attention. However, past research has tested deaf children born to hearing parents who are likely to have experienced language delays. The purpose of this study was to determine whether an absence of auditory input modulates attentional problems in deaf children with no delayed exposure to language. Two versions of a continuous performance test were administered to 37 deaf children born to Deaf parents and 60 hearing children, all aged 6–13 years. A vigilance task was used to measure sustained attention over the course of several minutes, and a distractibility test provided a measure of the ability to ignore task irrelevant information – selective attention. Both tasks provided assessments of cognitive control through analysis of commission errors. The deaf and hearing children did not differ on measures of sustained attention. However, younger deaf children were more distracted by task-irrelevant information in their peripheral visual field, and deaf children produced a higher number of commission errors in the selective attention task. It is argued that this is not likely to be an effect of audition on cognitive processing, but may rather reflect difficulty in endogenous control of reallocated visual attention resources stemming from early profound deafness. PMID:24355653

  12. Speech Perception Outcomes after Cochlear Implantation in Children with GJB2/DFNB1 associated Deafness

    Directory of Open Access Journals (Sweden)

    Marina Davcheva-Chakar

    2014-03-01

    Full Text Available Background: Cochlear implants (CI for the rehabilitation of patients with profound or total bilateral sensorineural hypoacusis represent the initial use of electrical fields to provide audibility in cases where the use of sound amplifiers does not provide satisfactory results. Aims: To compare speech perception performance after cochlear implantation in children with connexin 26-associated deafness with that of a control group of children with deafness of unknown etiology. Study Design: Retrospective comparative study. Methods: During the period from 2006 to , cochlear implantation was performed on 26 children. Eighteen of these children had undergone genetic tests for mutation of the Gap Junction Protein Beta 2 (GJB2 gene. Bi-allelic GJB2 mutations were confirmed in 7 out of 18 examined children. In order to confirm whether genetic factors have influence on speech perception after cochlear implantation, we compared the post-implantation speech performance of seven children with mutations of the GBJ2 (connexin 26 gene with seven other children who had the wild type version of this particular gene. The latter were carefully matched according to the age at cochlear implantation. Speech perception performance was measured before cochlear implantation, and one and two years after implantation. All the patients were arranged in line with the appropriate speech perception category (SPC. Non-parametric tests, Friedman ANOVA and Mann-Whitney’s U test were used for statistical analysis. Results: Both groups showed similar improvements in speech perception scores after cochlear implantation. Statistical analysis did not confirm significant differences between the groups 12 and 24 months after cochlear implantation. Conclusion: The results obtained in this study showed an absence of apparent distinctions in the scores of speech perception between the two examined groups and therefore might have significant implications in selecting prognostic indicators

  13. Signs of the Times: An Outdoor Education Project with Profoundly Deaf and Hearing Children.

    Science.gov (United States)

    Levi, Jan

    1994-01-01

    Describes a British outdoor program in which 11- and 12-year-old students were placed in mixed groups containing several ethnic groups and hearing and deaf children. Includes children's comments on outdoor activities, their relationships with other children, and communication problems and their resolution. An adjacent page illustrates 12 British…

  14. Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations

    DEFF Research Database (Denmark)

    Topsakal, Vedat; Hilgert, Nele; van Dinther, Joost

    2010-01-01

    Clinical and audiological examination was done in 2 Belgian families with autosomal dominant sensorineural hearing loss (SNHL) linked to DFNA22. Nineteen subjects in family 1 had mild to moderate SNHL starting in the third decade. The hearing loss was characterized by a flat audiogram affecting all......Hz. For all hitherto known DFNA22 families the audiological and clinical characteristics were correlated with the molecular data. This study describes the phenotype of 2 Belgian families with SNHL linked to DFNA22, both with a pathogenic change in the deafness gene MYO6. The phenotypes of all hitherto...

  15. The Impact of Bimodal Bilingual Parental Input on the Communication and Language Development of a Young Deaf Child

    Science.gov (United States)

    Levesque, Elizabeth; Brown, P. Margaret; Wigglesworth, Gillian

    2014-01-01

    This study explores the impact of bimodal bilingual parental input on the communication and language development of a young deaf child. The participants in this case study were a severe-to-profoundly deaf boy and his hearing parents, who were enrolled in a bilingual (English and Australian Sign Language) homebased early intervention programme. The…

  16. Deaf students and their classroom communication: an evaluation of higher order categorical interactions among school and background characteristics.

    Science.gov (United States)

    Allen, Thomas E; Anderson, Melissa L

    2010-01-01

    This article investigated to what extent age, use of a cochlear implant, parental hearing status, and use of sign in the home determine language of instruction for profoundly deaf children. Categorical data from 8,325 profoundly deaf students from the 2008 Annual Survey of Deaf and Hard-of-Hearing Children and Youth were analyzed using chi-square automated interaction detector, a stepwise analytic procedure that allows the assessment of higher order interactions among categorical variables. Results indicated that all characteristics were significantly related to classroom communication modality. Although younger and older students demonstrated a different distribution of communication modality, for both younger and older students, cochlear implantation had the greatest effect on differentiating students into communication modalities, yielding greater gains in the speech-only category for implanted students. For all subgroups defined by age and implantation status, the use of sign at home further segregated the sample into communication modality subgroups, reducing the likelihood of speech only and increasing the placement of students into signing classroom settings. Implications for future research in the field of deaf education are discussed.

  17. EEG activity as an objective measure of cognitive load during effortful listening: A study on pediatric subjects with bilateral, asymmetric sensorineural hearing loss.

    Science.gov (United States)

    Marsella, Pasquale; Scorpecci, Alessandro; Cartocci, Giulia; Giannantonio, Sara; Maglione, Anton Giulio; Venuti, Isotta; Brizi, Ambra; Babiloni, Fabio

    2017-08-01

    Deaf subjects with hearing aids or cochlear implants generally find it challenging to understand speech in noisy environments where a great deal of listening effort and cognitive load are invested. In prelingually deaf children, such difficulties may have detrimental consequences on the learning process and, later in life, on academic performance. Despite the importance of such a topic, currently, there is no validated test for the assessment of cognitive load during audiological tasks. Recently, alpha and theta EEG rhythm variations in the parietal and frontal areas, respectively, have been used as indicators of cognitive load in adult subjects. The aim of the present study was to investigate, by means of EEG, the cognitive load of pediatric subjects affected by asymmetric sensorineural hearing loss as they were engaged in a speech-in-noise identification task. Seven children (4F and 3M, age range = 8-16 years) affected by asymmetric sensorineural hearing loss (i.e. profound degree on one side, mild-to-severe degree on the other side) and using a hearing aid only in their better ear, were included in the study. All of them underwent EEG recording during a speech-in-noise identification task: the experimental conditions were quiet, binaural noise, noise to the better hearing ear and noise to the poorer hearing ear. The subjects' Speech Recognition Thresholds (SRT) were also measured in each test condition. The primary outcome measures were: frontal EEG Power Spectral Density (PSD) in the theta band and parietal EEG PSD in the alpha band, as assessed before stimulus (word) onset. No statistically significant differences were noted among frontal theta power levels in the four test conditions. However, parietal alpha power levels were significantly higher in the "binaural noise" and in the "noise to worse hearing ear" conditions than in the "quiet" and "noise to better hearing ear" conditions (p cognitive load during effortful listening. Significantly higher

  18. Sustained attention, selective attention and cognitive control in deaf and hearing children.

    Science.gov (United States)

    Dye, Matthew W G; Hauser, Peter C

    2014-03-01

    Deaf children have been characterized as being impulsive, distractible, and unable to sustain attention. However, past research has tested deaf children born to hearing parents who are likely to have experienced language delays. The purpose of this study was to determine whether an absence of auditory input modulates attentional problems in deaf children with no delayed exposure to language. Two versions of a continuous performance test were administered to 37 deaf children born to Deaf parents and 60 hearing children, all aged 6-13 years. A vigilance task was used to measure sustained attention over the course of several minutes, and a distractibility test provided a measure of the ability to ignore task irrelevant information - selective attention. Both tasks provided assessments of cognitive control through analysis of commission errors. The deaf and hearing children did not differ on measures of sustained attention. However, younger deaf children were more distracted by task-irrelevant information in their peripheral visual field, and deaf children produced a higher number of commission errors in the selective attention task. It is argued that this is not likely to be an effect of audition on cognitive processing, but may rather reflect difficulty in endogenous control of reallocated visual attention resources stemming from early profound deafness. Copyright © 2013 Elsevier B.V. All rights reserved.

  19. Disease: H00803 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00803 Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance... (SESAME) ; SeSAME/EAST syndrome Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance...l deficit, and electrolyte imbalance. This disease links to autosomal recessive m

  20. The risk ratio for development of hereditary sensorineural hearing loss in consanguineous marriage offspring.

    Science.gov (United States)

    Sanyelbhaa, Hossam; Kabel, Abdelmagied; Abo El-Naga, Heba Abd El-Rehem; Sanyelbhaa, Ahmed; Salem, Hatem

    2017-10-01

    This study aims to define the relative risk of development of hearing loss in offspring of consanguineous marriages. This is a retrospective case-control study conducted in a tertiary referral center in Jeddah, KSA. The study group included 1600 probands (848 males, 752 females), with age range 0.5-12 years (6.6 ± 3.6). The study group comprised of two equal, age and sex matched subgroups; Hearing Loss (HL) group and Normal Hearing (NH) group. The children included in the HL group should have idiopathic or non syndromic genetic sensorineural hearing loss. The HL Group comprised 800 children with variable degrees of sensorineural hearing loss. Profound and severe degrees of hearing loss were the most prevalent degrees (P marriage offspring in the NH group was 42.5%, while in the HL group it was 68.9% (P  0.05). The relative risk and 95% confidence interval (RR, 95% CI) for development of hearing loss in offspring of consanguineous marriage was 1.76 (95% CI 1.57-1.97, P marriage progeny to develop SNHL when compared to non consanguineous progeny. Copyright © 2017. Published by Elsevier B.V.

  1. A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents

    NARCIS (Netherlands)

    Raas-Rothschild, Annick; Wanders, Ronald J. A.; Mooijer, Petra A. W.; Gootjes, Jeannette; Waterham, Hans R.; Gutman, Alisa; Suzuki, Yasuyuki; Shimozawa, Nobuyuki; Kondo, Naomi; Eshel, Gideon; Espeel, Marc; Roels, Frank; Korman, Stanley H.

    2002-01-01

    Sensorineural deafness and retinitis pigmentosa (RP) are the hallmarks of Usher syndrome (USH) but are also prominent features in peroxisomal biogenesis defects (PBDs); both are autosomal recessively inherited. The firstborn son of unrelated parents, who both had sensorineural deafness and RP

  2. [Cochlear implantation in a child with congenital sensorineural deafness due to 35 DELG mutation in GJB2 (connexin 26) gene].

    Science.gov (United States)

    Teriutin, F M; Barashkov, N A; Dzhemileva, L U; Posukh, O L; Fedotova, E E; Gurinova, E E; Fedorova, S A; Tavartkiladze, G A; Khusnutdinova, E K

    2009-01-01

    This paper reports the first case of cochlear implantation performed in this country in a child with congenital non-syndromic sensorineural loss of hearing having hereditary etiology and attributable to autosomal-recessive 35 delG mutation in locus DFNB1 (13q.11-q12) of GJB2 (connexin 26) gene.

  3. Constraints on communication in classrooms for the deaf.

    Science.gov (United States)

    Matthews, T J; Reich, C F

    1993-03-01

    One explanation for the relatively low scholastic achievement of deaf students is the character of communication in the classroom. Unlike aural communication methods, line-of-sight methods share the limitation that the receiver of the message must look at the sender. To assess the magnitude of this constraint, we measured the amount of time signers were looked at by potential receivers in typical secondary school classes for the deaf. Videotaped segments indicated that on average the messages sent by teachers and students were seen less than half the time. Students frequently engaged in collateral conversations. The constraints of line-of-sight communication are profound and should be addressed by teaching techniques, classroom layout, and possibly, the use of computer-communication technology.

  4. Influence of directionality and maximal power output on speech understanding with bone anchored hearing implants in single sided deafness

    OpenAIRE

    Krempaska, Silvia; Koval, Juraj; Schmid, Christoph; Pfiffner, Flurin; Kurz, Anja; Kompis, Martin

    2014-01-01

    Bone-anchored hearing implants (BAHI) are routinely used to alleviate the effects of the acoustic head shadow in single-sided sensorineural deafness (SSD). In this study, the influence of the directional microphone setting and the maximum power output of the BAHI sound processor on speech understanding in noise in a laboratory setting were investigated. Eight adult BAHI users with SSD participated in this pilot study. Speech understanding in noise was measured using a new Slovak speech-in-noi...

  5. 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

  6. Postural control in children with typical development and children with profound hearing loss

    Directory of Open Access Journals (Sweden)

    Monteiro de Sousa AM

    2012-05-01

    Full Text Available Aneliza Maria Monteiro de Sousa,1 Jônatas de França Barros,2 Brígido Martins de Sousa Neto31Faculty of Health Sciences, University of Brasilia, Brasilia, Federal District, Brazil; 2Department of Physical Education at the Federal University of Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil; 3University Center UNIEURO, Brasilia, Federal District, BrazilPurpose: To describe the behavior of the postural control in children with profound sensorineural hearing loss and compare the results of experimental tests with hearing children aged 7 to 10 years.Patients and methods: This is a cross-sectional study where 100 children were divided into experimental and control groups. We used a force platform, AccuSway Plus, where the tests were conducted under the experimental conditions: open base, eyes open (OBEO; open base, eyes closed (OBEC; closed base, eyes open (CBEO; closed base, eyes closed (CBEC. The body sway velocity (V of the center of pressure, the displacement in the anteroposterior direction (COPap and mediolateral (COPml of the center of pressure were the parameters to evaluate the postural control. For statistical analysis we used the nonparametric Mann–Whitney U test, with a significance level of 5%.Results: In comparisons of variables between the groups, the experimental group outperformed by at least 75% of the control group values. In terms of global trends, the experimental group shows higher values of body oscillations in all experimental conditions and variables evaluated. Children with hearing loss had poorer balance performance compared to the group of hearing. The inferential analysis revealed a statistically significant difference in the balance between deaf and hearing children in the OBEC experimental condition in relation to the COPml parameter (P = 0.04. There were no statistically significant differences in comparisons between the sexes when the groups were analyzed separately. The prevalence of unknown etiology

  7. Loss of CIB2 Causes Profound Hearing Loss and Abolishes Mechanoelectrical Transduction in Mice

    Directory of Open Access Journals (Sweden)

    Yanfei Wang

    2017-12-01

    Full Text Available Calcium and integrin-binding protein 2 (CIB2 belongs to a protein family with four known members, CIB1 through CIB4, which are characterized by multiple calcium-binding EF-hand domains. Among the family members, the Cib1 and Cib2 genes are expressed in mouse cochlear hair cells, and mutations in the human CIB2 gene have been associated with nonsyndromic deafness DFNB48 and syndromic deafness USH1J. To further explore the function of CIB1 and CIB2 in hearing, we established Cib1 and Cib2 knockout mice using the clustered regularly interspaced short palindromic repeat (CRISPR-associated Cas9 nuclease (CRISPR/Cas9 genome editing technique. We found that loss of CIB1 protein does not affect auditory function, whereas loss of CIB2 protein causes profound hearing loss in mice. Further investigation revealed that hair cell stereocilia development is affected in Cib2 knockout mice. Noticeably, loss of CIB2 abolishes mechanoelectrical transduction (MET currents in auditory hair cells. In conclusion, we show here that although both CIB1 and CIB2 are readily detected in the cochlea, only loss of CIB2 results in profound hearing loss, and that CIB2 is essential for auditory hair cell MET.

  8. 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 ...

  9. The Contribution of Verbal Working Memory to Deaf Children’s Oral and Written Production

    Science.gov (United States)

    Arfé, Barbara; Rossi, Cristina; Sicoli, Silvia

    2015-01-01

    This study investigated the contribution of verbal working memory to the oral and written story production of deaf children. Participants were 29 severely to profoundly deaf children aged 8–13 years and 29 hearing controls, matched for grade level. The children narrated a picture story orally and in writing and performed a reading comprehension test, the Wechsler Intelligence Scale for Children-Fourth Edition forward digit span task, and a reading span task. Oral and written stories were analyzed at the microstructural (i.e., clause) and macrostructural (discourse) levels. Hearing children’s stories scored higher than deaf children’s at both levels. Verbal working memory skills contributed to deaf children’s oral and written production over and above age and reading comprehension skills. Verbal rehearsal skills (forward digit span) contributed significantly to deaf children’s ability to organize oral and written stories at the microstructural level; they also accounted for unique variance at the macrostructural level in writing. Written story production appeared to involve greater verbal working memory resources than oral story production. PMID:25802319

  10. Usher syndrome in four siblings from a consanguineous family of Pakistani origin.

    Science.gov (United States)

    Trop, I; Schloss, M D; Polomeno, R; Der Kaloustian, V

    1995-04-01

    Usher syndrome is a heterogeneous group of disorders of autosomal recessive inheritance characterized by retinitis pigmentosa and congenital sensorineural hearing loss. Two types are accepted clinically: type I is associated with profound congenital deafness with progressive pigmentary retinopathy and total loss of vestibular function. Type II is a milder form, with moderate-to-profound hearing loss and a milder form of retinitis pigmentosa. Vestibular function is preserved. A total of five loci have been identified as accounting for the two distinct phenotypic presentations. We describe a consanguineous family of Pakistani origin whose four children all are affected with Usher syndrome type I. DNA analysis showed non-linkage to any of the loci already identified as tightly linked to the Usher syndrome type I.

  11. Disacusia neurossensorial imunomediada Immunomediated sensorineural hearing loss

    Directory of Open Access Journals (Sweden)

    Norma de Oliveira Penido

    2002-10-01

    evolution. They presented whether positive response to immunosuppressive therapy or positiviness to Western Blot test for hsp 70-68kD. Two patients presented rapidly progressive sensorineural hearing loss, associated to vestibular symptoms and the other presented unilateral sudden deafness. No patient reacted to rheumatological testes, and one presented increased erythrocyte sedimentation rate. None satisfactorily responded to corticotherapy, but two presented clinical improvement with other immunosuppressive therapies. The ISHL diagnosis is based on clinical aspects and on the positive response to therapeutic testes with immunosupressor drugs. The Western Blot test for hsp 70-68 kD, with 42% sensitivity and 90% specificity, is the only specific laboratorial exam for ISHL. One patient presented positiviness to this exam and did not responded to immunosuppressive therapy. Two patients with negative tests satisfactorily responded to immunosuppressive therapy. The low sensitivity and high costs of Western Blot test represent difficulties to the spread use of it. The early introduction of treatment has a major importance in the diagnosis of ISHL and to increase the auditory prognosis.

  12. Usher syndrome Type I in an adult Nepalese male: a rare case report.

    Science.gov (United States)

    Sahu, Sabin; Singh, Sanjay Kumar

    2017-07-01

    Usher syndrome, also known as retinitis pigmentosa-dysacusis syndrome, is an extremely rare genetic disorder, characterized by retinitis pigmentosa (RP) and congenital sensorineural hearing loss. It has been estimated to account for 3-6% of the congenitally deaf population, upto 8-33% of individuals with RP and half of all cases with combined deafness and blindness (Vernon M,1969; Boughman JA et al,1983). The prevalence of Usher syndrome have been reported to range from 3.5 to 6.2 per 100,000 in different populations (Vernon M,1969; Boughman JA et al,1983; Yan D et al, 2010). We report a case of Usher syndrome type I in an adult Nepalese male with typical congenital profound hearing loss, and night blindness secondary to retinitis pigmentosa. © NEPjOPH.

  13. Mobile phone usage does not affect sudden sensorineural hearing loss.

    Science.gov (United States)

    Sagiv, D; Migirov, L; Madgar, O; Nakache, G; Wolf, M; Shapira, Y

    2018-01-01

    Recent studies found that mobile phone users had a significantly greater risk of having elevated thresholds in speech frequencies. This study investigated the correlation between the laterality of sudden sensorineural hearing loss, handedness and the preferred ear for mobile phone use. The study included all patients who presented with sudden sensorineural hearing loss to the Department of Otolaryngology - Head and Neck Surgery in our tertiary referral medical centre between 2014 and 2016. Patients were asked to indicate their dominant hand and preferred ear for mobile phone use. The study comprised 160 patients. No correlation was found between the dominant hand or preferred ear for mobile phone use and the side of sudden sensorineural hearing loss. There was no correlation between the side of the sudden sensorineural hearing loss (preferable or non-preferable for mobile phone use) and audiometric characteristics. No correlation was found between the laterality of ears used for mobile phone and sudden sensorineural hearing loss.

  14. Evaluation of very low birth weight (≤ 1,500 g) as a risk indicator for sensorineural hearing loss.

    Science.gov (United States)

    Borkoski-Barreiro, Silvia A; Falcón-González, Juan C; Limiñana-Cañal, José M; Ramos-Macías, Angel

    2013-01-01

    Hearing plays an essential role in the acquisition, development and maintenance of the properties of the speech and language. Birth weight is an indicator of biological maturation of the newborn. Premature newborns with very low birth weight (VLBW<1,500 g) constitute a group with the highest risk of sensorineural hearing loss. Our objective was to ascertain the degree of hearing loss, sensorineural hearing loss and presence of the association to other risk factors for hearing loss in VLBW infants included in the Universal Hearing Loss Screening Programme at the University Mother-Child Hospital of Gran Canaria (Spain) in the 2007-2010 period. This was a retrospective study of 364 infants with VLBW, measured by transient evoked otoacoustic emissions and auditory brainstem response. There were 112 newborn (30.8%) referred for auditory brainstem response. A diagnosis of hearing loss was given to 22 newborns (2.2%), 14 had conductive hearing loss and 8, sensorineural hearing loss (SNHL), of which 2 had bilateral profound hearing loss. The VLBW newborn presented the association to another risk factor in more than a quarter of the sample studied. All those diagnosed with SNHL were premature. The percentage of VLBW newborns diagnosed with hearing loss is higher than expected in the general population. All those diagnosed with SNHL were premature and presented one or 2 hearing risk factors associated with VLBW. Copyright © 2013 Elsevier España, S.L. All rights reserved.

  15. Visual working memory in deaf children with diverse communication modes: improvement by differential outcomes.

    Science.gov (United States)

    López-Crespo, Ginesa; Daza, María Teresa; Méndez-López, Magdalena

    2012-01-01

    Although visual functions have been proposed to be enhanced in deaf individuals, empirical studies have not yet established clear evidence on this issue. The present study aimed to determine whether deaf children with diverse communication modes had superior visual memory and whether their performance was improved by the use of differential outcomes. Severely or profoundly deaf children who employed spoken Spanish, Spanish Sign Language (SSL), and both spoken Spanish and SSL modes of communication were tested in a delayed matching-to-sample task for visual working memory assessment. Hearing controls were used to compare performance. Participants were tested in two conditions, differential outcome and non-differential outcome conditions. Deaf groups with either oral or SSL modes of communication completed the task with less accuracy than bilingual and control hearing children. In addition, the performances of all groups improved through the use of differential outcomes. Copyright © 2011 Elsevier Ltd. All rights reserved.

  16. Ira Hirsh and oral deaf education: The role of audition in language development

    Science.gov (United States)

    Geers, Ann

    2002-05-01

    Prior to the 1960s, the teaching of speech to deaf children consisted primarily of instruction in lip reading and tactile perception accompanied by imitative exercises in speech sound production. Hirsh came to Central Institute for the Deaf with an interest in discovering the auditory capabilities of normal-hearing listeners. This interest led him to speculate that more normal speech development could be encouraged in deaf children by maximizing use of their limited residual hearing. Following the tradition of Max Goldstein, Edith Whetnall, and Dennis Fry, Hirsh gave scientific validity to the use of amplified speech as the primary avenue to oral language development in prelingually deaf children. This ``auditory approach,'' combined with an emphasis on early intervention, formed the basis for auditory-oral education as we know it today. This presentation will examine how the speech perception, language, and reading skills of prelingually deaf children have changed as a result of improvements in auditory technology that have occurred over the past 30 years. Current data from children using cochlear implants will be compared with data collected earlier from children with profound hearing loss who used hearing aids. [Work supported by NIH.

  17. Etiology and prevalence rate of bilateral sensorineural hearing impairment in children born in Kobe city over a 10 year period

    International Nuclear Information System (INIS)

    Yoshioka, Mieko; Naito, Yashushi

    2008-01-01

    The study was carried out on children born over a 10 year period from 1997 to 2006 in Kobe city and referred to our center for specialist audiological assessment. A total of 107 cases had a bilateral sensorineural hearing impairment averaging 25 dB or over in the better hearing ear during the study period. To ascertain causes of sensorineural hearing impairment, full medical histories were obtained with detailed family history relevant to hearing impairment and perinatal course for adverse etiological factors. The children were investigated for possible congenital infection and chromosomal anomalies. Children with positive family history of deafness in parents or siblings constituted 11.2% of cases (genetic group). Other etiological groups showed the following distribution: syndromal group 5.6%; inner ear anomalies 5.6%; perinatal group 13.1%; congenital infection 11.2%; chromosomal anomalies 16.8%; multiple congenital anomalies 5.6%; causes unknown 30.9%. The high incidence of causes unknown indicates that steps should be taken to yield a diagnosis. The total number of children born in Kobe city was 117,896 during the period from 1997 to 2005, which gave a prevalence rate of hearing impairment of 0.87/1,000 births. Newborn hearing screening identified many children earlier and also provide the opportunity to finetune the evaluation. (author)

  18. Sensorineural Hearing Loss following Carbon Monoxide Poisoning

    Directory of Open Access Journals (Sweden)

    Joseph P. Pillion

    2012-01-01

    Full Text Available A case study is presented of a 17-year-old male who sustained an anoxic brain injury and sensorineural hearing loss secondary to carbon monoxide poisoning. Audiological data is presented showing a slightly asymmetrical hearing loss of sensorineural origin and mild-to-severe degree for both ears. Word recognition performance was fair to poor bilaterally for speech presented at normal conversational levels in quiet. Management considerations of the hearing loss are discussed.

  19. Cortical perfusion response to an electrical stimulation of the auditory nerve in profoundly deaf patients: Study with technetium-99m hexamethylpropylene amine oxime single photon emission tomography

    International Nuclear Information System (INIS)

    Le Scao, Y.; Robier, A.; Beuter, P.; Baulieu, J.L.; Pourcelot, L.

    1992-01-01

    Brain activation procedures associated with single photon emission tomography (SPET) have recently been developed in healthy controls and diseased patients in order to help in their diagnosis and treatment. We investigated the effects of a promontory test (PT) on the cerebral distribution of technetium-99m hexamethyl-propylene amine oxime ( 99m Tc-HMPAO) in 7 profoundly deaf patients, 6 PT+ and PT-. The count variation in the temporal lobe was calculated on 6 coronal slices using the ratio (R stimulation -R deprivation )/R deprivation where R=counts in the temporal lobe was observed in all patients and was higher in all patients with PT+ than in the patient with PT-. The problems of head positioning and resolution of the system were taken into account, and we considered that the maximal count increment was related to the auditory cortex response to the stimulus. Further clinical investigations with high-resolution systems have to be performed in order to validate this presurgery test in cochlear implant assessment. (orig.)

  20. Perspectives for the treatment of sensorineural hearing loss by cellular regeneration of the inner ear.

    Science.gov (United States)

    Almeida-Branco, Mario S; Cabrera, Sonia; Lopez-Escamez, Jose A

    2015-01-01

    Sensorineural hearing loss is a caused by the loss of the cochlear hair cells with the consequent deafferentation of spiral ganglion neurons. Humans do not show endogenous cellular regeneration in the inner ear and there is no exogenous therapy that allows the replacement of the damaged hair cells. Currently, treatment is based on the use of hearing aids and cochlear implants that present different outcomes, some difficulties in auditory discrimination and a limited useful life. More advanced technology is hindered by the functional capacity of the remaining spiral ganglion neurons. The latest advances with stem cell therapy and cellular reprogramming have developed several possibilities to induce endogenous regeneration or stem cell transplantation to replace damaged inner ear hair cells and restore hearing function. With further knowledge of the cellular and molecular biology of the inner ear and its embryonic development, it will be possible to use induced stem cells as in vitro models of disease and as replacement cellular therapy. Investigation in this area is focused on generating cellular therapy with clinical use for the treatment of profound sensorineural hearing loss. Copyright © 2014 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Patología Cérvico-Facial. All rights reserved.

  1. Oral Communication Development in Severe to Profound Hearing Impaired Children After Receiving Aural Habilitation

    Directory of Open Access Journals (Sweden)

    Soleimani Farin

    2009-10-01

    Full Text Available Communication, cognition, language, and speech are interrelated and develop together. It should come as no surprise to us that the key to intervention with deaf children is to establish, as early as possible, a functional communication system for the child and the parents. Early intervention programs need to be multidisciplinary, technologically sound and most important, it should take cognizance of the specific context (community, country in which the child and family function. The main aim of this study was to obtain oral communication development regarding current status of the intervention (aural habilitation and speech therapyfor children with severe to profound hearing impairment in Iran. A prospective longitudinal study was undertaken on a consecutive group of children with severe to profound deafness. Nine severe to profound hearing-impaired children out of the primer 42 cases, who were detected below two years old, had been selected in the previous study to receive aural habilitation. The average of their speech intelligibility scores was near 70% at age 6, which was accounted as poor oral communication and only two of them were able to communicate by spoken language. An integrated intervention services continued again for one year and their oral communication skill was assessed by their speech intelligibility. The intelligibility test of children was recorded on audio-tape, when they read 10 questions such as where is your home. This can be answered only in one word. Each tape was presented to10 normal hearing listeners, and their task was to write down, the answers in Persian orthography. At the beginning (at age 6 the average speech intelligibility score of these children was 72% and only two of them had score of 90% and 100%. At age 7, all of the severe groups were over 90%, and only two profound ones achieved the score of 48% and 62%. All of severe groups develop oral communication, but profound ones had a semi-intelligible speech

  2. [Sensorineural hearing loss due to neonatal hyperbilirubinemia].

    Science.gov (United States)

    Clarós, P; Turcanu, D; Caballero, M; Costa, C; Clavería, M A; Clarós, A; Clarós, A

    2003-01-01

    In this article, the sensorineural hearing loss is presented as a possible sequelae of neonatal hyperbilirubinemia. In our program of early hipoacusia detection, 241 babies were examined from January 1996 until November 1999; 7 cases had a history of hyperbilirubinemia in the neonatal period and 2 of them were diagnosed of sensorineural hearing loss. We discuss how the bilirubin or any other associated factor might have been the cause and this could explain the selective affectation of some children.

  3. Congenital Unilateral Deafness Affects Cerebral Organization of Reading

    Directory of Open Access Journals (Sweden)

    Alice Mado Proverbio

    2013-06-01

    Full Text Available It is known that early sensory deprivation modifies brain functional structure and connectivity. The aim of the present study was to investigate the neuro-functional organization of reading in a patient with profound congenital unilateral deafness. Using event-related potentials (ERPs, we compared cortical networks supporting the processing of written words in patient RA (completely deaf in the right ear since birth and in a group of control volunteers. We found that congenital unilateral hearing deprivation modifies neural mechanisms of word reading. Indeed, while written word processing was left-lateralized in controls, we found a strong right lateralization of the fusiform and inferior occipital gyri activation in RA. This finding goes in the same direction of recent proposals that the ventral occipito-temporal activity in word reading seem to lateralize to the same hemisphere as the one involved in spoken language processing.

  4. Challenges in management of childhood sensorineural hearing loss in sub-Saharan Africa, Nigeria.

    Science.gov (United States)

    Lasisi, O A; Ayodele, J K; Ijaduola, G T A

    2006-04-01

    The evaluation of a hearing-impaired child attempts to determine the aetiology, the degree of hearing loss and intervention to aid speech and language. This remains a challenge to practising otolaryngologists, especially in the developing countries as 85-90% of causes of hearing losses were never discovered leading to delayed intervention and irreversible effects. In a review of children presenting at the otolaryngology outpatient in the University College Hospital, Ibadan, Nigeria, sensorineural hearing loss was found in 103, giving a hospital prevalence rate of 14%, we still perceived this figure to be unrepresentatively and low, probably due to poor access to medicare, poverty and other factors. Genetic factor accounted for 25%, followed by measles infections 13% and meningitis 8%. About 60% of them had educationally significant hearing loss at presentation. Access to hearing aid was poor as only 12.5% of the patients could afford it and the rest were managed by deaf training. We conclude by suggesting an audiologic programme which has the comprehensive function of neonatal and infant hearing screening, subsidized hearing aid services and hearing rehabilitation surgery.

  5. Gait performance of children and adolescents with sensorineural hearing loss.

    Science.gov (United States)

    Melo, Renato de Souza

    2017-09-01

    Several studies have demonstrated that children with sensorineural hearing loss (SNHL) may exhibit balance disorders, which can compromise the gait performance of this population. Compare the gait performance of normal hearing (NH) children and those with SNHL, considering the sex and age range of the sample, and analyze gait performance according to degrees of hearing loss and etiological factors in the latter group. This is a cross-sectional study that assessed 96 students, 48 NH and 48 with SNHL, aged between 7 and 18 years. The Brazilian version of the Dynamic Gait Index (DGI) was used to analyze gait and the Mann-Whitney test for statistical analysis. The group with SNHL obtained lower average gait performance compared to NH subjects (p=0.000). This was also observed when the children were grouped by sex female and male (p=0.000). The same difference occurred when the children were stratified by age group: 7-18 years (p=0.000). The group with severe and profound hearing loss exhibited worse gait performance than those with mild and moderate loss (p=0.048) and children with prematurity as an etiological factor demonstrated the worst gait performance. The children with SNHL showed worse gait performance compared to NH of the same sex and age group. Those with severe and profound hearing loss and prematurity as an etiological factor demonstrated the worst gait performances. Copyright © 2017 Elsevier B.V. All rights reserved.

  6. Cancer prevention knowledge of people with profound hearing loss.

    Science.gov (United States)

    Zazove, Philip; Meador, Helen E; Reed, Barbara D; Sen, Ananda; Gorenflo, Daniel W

    2009-03-01

    Deaf persons, a documented minority population, have low reading levels and difficulty communicating with physicians. The effect of these on their knowledge of cancer prevention recommendations is unknown. A cross-sectional study of 222 d/Deaf persons in Michigan, age 18 and older, chose one of four ways (voice, video of a certified American Sign Language interpreter, captions, or printed English) to complete a self-administered computer video questionnaire about demographics, hearing loss, language history, health-care utilization, and health-care information sources, as well as family and social variables. Twelve questions tested their knowledge of cancer prevention recommendations. The outcome measures were the percentage of correct answers to the questions and the association of multiple variables with these responses. Participants averaged 22.9% correct answers with no gender difference. Univariate analysis revealed that smoking history, types of medical problems, last physician visit, and women having previous cancer preventive tests did not affect scores. Improved scores occurred with computer use (p = 0.05), higher education (p internet (p = 0.02), and believing that smoking is bad (p bad (p = 0.05) were associated with improved scores. Persons with profound hearing loss have poor knowledge of recommended cancer prevention interventions. English use in multiple settings was strongly associated with increased knowledge.

  7. Experience with cochlear implants in Greenlanders with profound hearing loss living in Greenland

    DEFF Research Database (Denmark)

    Homøe, Preben; Andersen, Ture; Grøntved, Aksel

    2013-01-01

    OBJECTIVE: Cochlear implant (CI) treatment was introduced to the world in the 1980s and has become a routine treatment for congenital or acquired severe-to-profound hearing loss. CI treatment requires access to a highly skilled team of ear, nose and throat specialists, audiologists and speech...... years are in need of a CI every second year in Greenland often due to sequelae from meningitis, which may cause postinfectious deafness. Screening of new-borns for hearing has been started in Greenland establishing the basis for early diagnosis of congenital hearing impairment and subsequent...

  8. 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…

  9. 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…

  10. Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family.

    Science.gov (United States)

    Zong, Ling; Chen, Kaitian; Wu, Xuan; Liu, Min; Jiang, Hongyan

    2016-11-01

    Identification of rare deafness genes for inherited congenital sensorineural hearing impairment remains difficult, because a large variety of genes are implicated. In this study we applied targeted capture and next-generation sequencing to uncover the underlying gene in a three-generation Han family segregating recessive inherited hearing loss and retinitis pigmentosa. After excluding mutations in common deafness genes GJB2, SLC26A4 and the mitochondrial gene, genomic DNA of the proband of a Han family was subjected to targeted next-generation sequencing. The candidate mutations were confirmed by Sanger sequencing and subsequently analyzed with in silico tools. An unreported splice site mutation c.3924+1G > C compound with c.6028G > A in the MYO7A gene were detected to cosegregate with the phenotype in this pedigree. Both mutations, located in the evolutionarily conserved FERM domain in myosin VIIA, were predicted to be pathogenic. In this family, profound sensorineural hearing impairment and retinitis pigmentosa without vestibular disorder, constituted the typical Usher syndrome type 2. Identification of novel mutation in compound heterozygosity in MYO7A gene revealed the genetic origin of Usher syndrome type 2 in this Han family. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  11. Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness.

    Science.gov (United States)

    Amasdl, Saadia; Smaili, Wiam; Natiq, Abdelhafid; Hassani, Amale; Sbiti, Aziza; Agadr, Aomar; Sanlaville, Damien; Sefiani, Abdelaziz

    2017-01-01

    Unbalanced translocations involving X and Y chromosomes are rare and associated with a contiguous gene syndrome. The clinical phenotype is heterogeneous including mainly short stature, chondrodysplasia punctata, ichthyosis, hypogonadism, and intellectual disability. Here, we report 2 brothers with peculiar gestalt, short stature, and hearing loss, who harbor an X/Y translocation. Physical examination, brainstem acoustic potential evaluation, bone age, hormonal assessment, and X-ray investigations were performed. Because of their dysmorphic features, karyotyping, FISH, and aCGH were carried out. The probands had short stature, hypertelorism, midface hypoplasia, sensorineural hearing loss, normal intelligence as well as slight radial and ulnar bowing with brachytelephalangy. R-banding identified a derivative X chromosome with an abnormally expanded short arm. The mother was detected as a carrier of the same aberrant X chromosome. aCGH disclosed a 3.1-Mb distal deletion of chromosome region Xp22.33pter. This interval encompasses several genes, especially the short stature homeobox (SHOX) and arylsulfatase (ARSE) genes. The final karyotype of the probands was: 46,Y,der(X),t(X;Y)(p22;q12).ish der(X)(DXYS129-,DXYS153-)mat.arr[hg19] Xp22.33(61091_2689408)×1mat,Xp22.33(2701273_3258404)×0mat,Yq11.222q12 (21412851_59310245)×2. Herein, we describe a Moroccan family with a maternally inherited X/Y translocation and discuss the genotype-phenotype correlations according to the deleted genes. © 2017 S. Karger AG, Basel.

  12. 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.

  13. 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

  14. 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.

  15. Word learning in deaf children with cochlear implants: effects of early auditory experience.

    Science.gov (United States)

    Houston, Derek M; Stewart, Jessica; Moberly, Aaron; Hollich, George; Miyamoto, Richard T

    2012-05-01

    Word-learning skills were tested in normal-hearing 12- to 40-month-olds and in deaf 22- to 40-month-olds 12 to 18 months after cochlear implantation. Using the Intermodal Preferential Looking Paradigm (IPLP), children were tested for their ability to learn two novel-word/novel-object pairings. Normal-hearing children demonstrated learning on this task at approximately 18 months of age and older. For deaf children, performance on this task was significantly correlated with early auditory experience: Children whose cochlear implants were switched on by 14 months of age or who had relatively more hearing before implantation demonstrated learning in this task, but later implanted profoundly deaf children did not. Performance on this task also correlated with later measures of vocabulary size. Taken together, these findings suggest that early auditory experience facilitates word learning and that the IPLP may be useful for identifying children who may be at high risk for poor vocabulary development. © 2012 Blackwell Publishing Ltd.

  16. Cortical perfusion response to an electrical stimulation of the auditory nerve in profoundly deaf patients: Study with technetium-99m hexamethylpropylene amine oxime single photon emission tomography

    Energy Technology Data Exchange (ETDEWEB)

    Le Scao, Y.; Robier, A.; Beuter, P. (Centre Hospitalier Universitaire, 37 - Tours (France). Dept. of Otorhinolaryngology); Baulieu, J.L.; Pourcelot, L. (Centre Hospitalier Universitaire, 37 - Tours (France). Dept. of Nuclear Medicine)

    1992-04-01

    Brain activation procedures associated with single photon emission tomography (SPET) have recently been developed in healthy controls and diseased patients in order to help in their diagnosis and treatment. We investigated the effects of a promontory test (PT) on the cerebral distribution of technetium-99m hexamethyl-propylene amine oxime ({sup 99m}Tc-HMPAO) in 7 profoundly deaf patients, 6 PT+ and PT-. The count variation in the temporal lobe was calculated on 6 coronal slices using the ratio (R{sub stimulation}-R{sub deprivation})/R{sub deprivation} where R=counts in the temporal lobe was observed in all patients and was higher in all patients with PT+ than in the patient with PT-. The problems of head positioning and resolution of the system were taken into account, and we considered that the maximal count increment was related to the auditory cortex response to the stimulus. Further clinical investigations with high-resolution systems have to be performed in order to validate this presurgery test in cochlear implant assessment. (orig.).

  17. Cortical perfusion response to an electrical stimulation of the auditory nerve in profoundly deaf patients: study with technetium-99m hexamethylpropylene amine oxime single photon emission tomography.

    Science.gov (United States)

    Le Scao, Y; Robier, A; Baulieu, J L; Beutter, P; Pourcelot, L

    1992-01-01

    Brain activation procedures associated with single photon emission tomography (SPET) have recently been developed in healthy controls and diseased patients in order to help in their diagnosis and treatment. We investigated the effects of a promontory test (PT) on the cerebral distribution of technetium-99m hexamethylpropylene amine oxime (99mTc-HMPAO) in 7 profoundly deaf patients, 6 PT+ and one PT-. The count variation in the temporal lobe was calculated on 6 coronal slices using the ratio (Rstimulation-Rdeprivation)/Rdeprivation where R = counts in the temporal lobe/whole-brain count. A count increase in the temporal lobe was observed in all patients and was higher in all patients with PT+ than in the patient with PT-. The problems of head positioning and resolution of the system were taken into account, and we considered that the maximal count increment was related to the auditory cortex response to the stimulus. Further clinical investigations with high-resolution systems have to be performed in order to validate this presurgery test in cochlear implant assessment.

  18. Developmental dysgraphia with profound hearing impairment: intervention by auditory methods enabled by cochlear implant.

    Science.gov (United States)

    Fukushima, Kunihiro; Kawasaki, Akihiro; Nagayasu, Rie; Kunisue, Kazuya; Maeda, Yukihide; Kariya, Shin; Kataoka, Yuko; Nishizaki, Kazunori

    2008-06-01

    Learning disability combined with hearing impairment (LDHI) is a poor prognostic factor for the language development of hearing impaired children after educational intervention. A typical example of a child with LDHI and effective interventions provided by cochlear implants are presented in this report. A case of congenital cytomegaloviral infection that showed dysgraphia as well as profound deafness was reported and an underlying visual processing problem diagnosed in the present case caused the patient's dysgraphia. The dysgraphia could be circumvented by the use of auditory memory fairly established by a cochlear implant.

  19. Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.

    Science.gov (United States)

    Belge, Hendrica; Dahan, Karin; Cambier, Jean-François; Benoit, Valérie; Morelle, Johann; Bloch, Julie; Vanhille, Philippe; Pirson, Yves; Demoulin, Nathalie

    2017-05-01

    Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder, secondary to mutations in the GATA-3 gene. Due to its wide range of penetrance and expressivity, the disease may not always be recognized. We herein describe clinical and genetic features of patients with HDR syndrome, highlighting diagnostic clues. Medical records of eight patients from five unrelated families exhibiting GATA-3 mutations were reviewed retrospectively, in conjunction with all previously reported cases. HDR syndrome was diagnosed in eight patients between the ages of 18 and 60 years. Sensorineural deafness was consistently diagnosed, ranging from clinical hearing loss since infancy in seven patients to deafness detected only by audiometry in adulthood in one single patient. Hypoparathyroidism was present in six patients (with hypocalcaemia and inaugural seizures in two out of six). Renal abnormalities observed in six patients were diverse and of dysplastic nature. Three patients displayed nephrotic-range proteinuria and reached end-stage renal disease (ESRD) between the ages of 19 and 61 years, whilst lesions of focal and segmental glomerulosclerosis were histologically demonstrated in one of them. Interestingly, phenotype severity differed significantly between a mother and son within one family. Five new mutations of GATA-3 were identified, including three missense mutations affecting zinc finger motifs [NM_001002295.1: c.856A>G (p.N286D) and c.1017C>G (p.C339W)] or the conserved linker region [c.896G>A (p.R299G)], and two splicing mutations (c.924+4_924+19del and c.1051-2A>G). Review of 115 previously reported cases of GATA-3 mutations showed hypoparathyroidism and deafness in 95% of patients, and renal abnormalities in only 60%. Overall, 10% of patients had reached ESRD. We herein expand the clinical and mutational spectrum of HDR syndrome, illustrating considerable inter- and intrafamilial phenotypic variability. Diagnosis of HDR should be

  20. Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26 in Syrian Patients with Nonsyndromic Hearing Impairment

    Directory of Open Access Journals (Sweden)

    Hazem Kaheel

    2017-01-01

    Full Text Available Background. Hearing impairments (HI are the most common birth defect worldwide. Very large numbers of genes have been identified but the most profound is GJB2. The clinical interest regarding this gene is very pronounced due to its high carrier frequency (0.5–5.4% across different ethnic groups. This study aimed to determine the prevalence of common GJB2 mutations in Syrian patients with profound sensorineural HI. Methods. We carried out PCR, restriction enzyme based screening, and sequencing of 132 Syrian patients diagnosed clinically with hereditary deafness for different GJB2 mutations. Results. The result revealed that, in GJB2 gene, c.35delG is the most prevalent among affected studied subjects (13.64%, followed by c.457G>A (2.4%. Conclusion. The benefit of this study on the one hand is its first report of prelingual deafness causative gene mutations identified by sequencing technology in the Syrian families. It is obvious from the results that the deployment in biomedical research is highly effective and has a great impact on the ability to uncover the cause of genetic variation in different genetic diseases.

  1. 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.…

  2. 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.

  3. Enhanced activation of the left inferior frontal gyrus in deaf and dyslexic adults during rhyming.

    Science.gov (United States)

    MacSweeney, Mairéad; Brammer, Michael J; Waters, Dafydd; Goswami, Usha

    2009-07-01

    Hearing developmental dyslexics and profoundly deaf individuals both have difficulties processing the internal structure of words (phonological processing) and learning to read. In hearing non-impaired readers, the development of phonological representations depends on audition. In hearing dyslexics, many argue, auditory processes may be impaired. In congenitally profoundly deaf individuals, auditory speech processing is essentially absent. Two separate literatures have previously reported enhanced activation in the left inferior frontal gyrus in both deaf and dyslexic adults when contrasted with hearing non-dyslexics during reading or phonological tasks. Here, we used a rhyme judgement task to compare adults from these two special populations to a hearing non-dyslexic control group. All groups were matched on non-verbal intelligence quotient, reading age and rhyme performance. Picture stimuli were used since this requires participants to generate their own phonological representations, rather than have them partially provided via text. By testing well-matched groups of participants on the same task, we aimed to establish whether previous literatures reporting differences between individuals with and without phonological processing difficulties have identified the same regions of differential activation in these two distinct populations. The data indicate greater activation in the deaf and dyslexic groups than in the hearing non-dyslexic group across a large portion of the left inferior frontal gyrus. This includes the pars triangularis, extending superiorly into the middle frontal gyrus and posteriorly to include the pars opercularis, and the junction with the ventral precentral gyrus. Within the left inferior frontal gyrus, there was variability between the two groups with phonological processing difficulties. The superior posterior tip of the left pars opercularis, extending into the precentral gyrus, was activated to a greater extent by deaf than dyslexic

  4. Persistent Thalamic Sound Processing Despite Profound Cochlear Denervation

    Directory of Open Access Journals (Sweden)

    Anna R. Chambers

    2016-08-01

    Full Text Available Neurons at higher stages of sensory processing can partially compensate for a sudden drop in input from the periphery through a homeostatic plasticity process that increases the gain on weak afferent inputs. Even after a profound unilateral auditory neuropathy where > 95% of synapses between auditory nerve fibers and inner hair cells have been eliminated with ouabain, central gain can restore the cortical processing and perceptual detection of basic sounds delivered to the denervated ear. In this model of profound auditory neuropathy, cortical processing and perception recover despite the absence of an auditory brainstem response (ABR or brainstem acoustic reflexes, and only a partial recovery of sound processing at the level of the inferior colliculus (IC, an auditory midbrain nucleus. In this study, we induced a profound cochlear neuropathy with ouabain and asked whether central gain enabled a compensatory plasticity in the auditory thalamus comparable to the full recovery of function previously observed in the auditory cortex (ACtx, the partial recovery observed in the IC, or something different entirely. Unilateral ouabain treatment in adult mice effectively eliminated the ABR, yet robust sound-evoked activity persisted in a minority of units recorded from the contralateral medial geniculate body (MGB of awake mice. Sound-driven MGB units could decode moderate and high-intensity sounds with accuracies comparable to sham-treated control mice, but low-intensity classification was near chance. Pure tone receptive fields and synchronization to broadband pulse trains also persisted, albeit with significantly reduced quality and precision, respectively. MGB decoding of temporally modulated pulse trains and speech tokens were both greatly impaired in ouabain-treated mice. Taken together, the absence of an ABR belied a persistent auditory processing at the level of the MGB that was likely enabled through increased central gain. Compensatory

  5. Did you hear that? The role of stimulus similarity and uncertainty in auditory change deafness

    Directory of Open Access Journals (Sweden)

    Kelly eDickerson

    2014-10-01

    Full Text Available Change deafness, the auditory analog to change blindness, occurs when salient and behaviorally relevant changes to sound sources are missed. Missing significant changes in the environment can have serious consequences, however, this effect, has remained little more than a lab phenomenon and a party trick. It is only recently that researchers have begun to explore the nature of these profound errors in change perception. Despite a wealth of examples of the change blindness phenomenon, work on change deafness remains fairly limited. The purpose of the current paper is to review the state of the literature on change deafness and propose an explanation of change deafness that relies on factors related to stimulus information rather than attentional or memory limits. To achieve this, work on across several auditory research domains, including environmental sound classification, informational masking and change deafness are synthesized to present a unified perspective on the perception of change errors in complex, dynamic sound environments. We hope to extend previous research by describing how it may be possible to predict specific patters of change perception errors based on varying degrees of similarity in stimulus features and uncertainty about which stimuli and features are important for a given perceptual decision.

  6. 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.

  7. 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 ...

  8. 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…

  9. Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches.

    Science.gov (United States)

    Bonnet, Crystel; El-Amraoui, Aziz

    2012-02-01

    Usher syndrome (USH) is the most prevalent cause of hereditary deafness-blindness in humans. In this review, we pinpoint new insights regarding the molecular mechanisms defective in this syndrome, its molecular diagnosis and prospective therapies. Animal models wherein USH proteins were targeted at different maturation stages of the auditory hair cells have been engineered, shedding new light on the development and functioning of the hair bundle, the sound receptive structure. Improved protocols and guidelines for early molecular diagnosis of USH (USH genotyping microarrays, otochips and complete Sanger sequencing of the 366 coding exons of identified USH genes) have been developed. Approaches to alleviate or cure hearing and visual impairments have been initiated, leading to various degrees of functional rescuing. Whereas the mechanisms underlying hearing impairment in USH patients are being unraveled, showing in particular that USH1 proteins are involved in the shaping of the hair bundle and the functioning of the mechanoelectrical transduction machinery, the mechanisms underlying the retinal defects are still unclear. Efforts to improve clinical diagnosis have been successful. Yet, despite some encouraging results, further development of therapeutic approaches is necessary to ultimately treat this dual sensory defect.

  10. Should we teach thinking skills to deaf children?

    Directory of Open Access Journals (Sweden)

    Emma Tamsin Kelty

    2006-04-01

    Full Text Available This pilot study aimed to identify the benefits of developing thinking skills with KS1 deaf children who used British Sign Language (BSL. It arose as a response to the findings of a variety of researches who had reported a number of ‘failings’ apparent in the educational and learning activity of deaf children. It used a case study approach involving five profoundly deaf Key stage 1 children and explored the extent to which, using materials grounded in the Somerset Thinking Skills Course, the teaching of thinking skills in a supportive environment could remediate some of these issues. The strongly visual nature of the material supported pupil exchanges mediated by the use of sign language. Analysis of video film was used to plot individual pupil development of scanning skills, their use of nouns versus adjectives, micro-skills and macro-abilities. Pupil reasoning skills, how they were supported, their ownership and role of the facilitator were also examined. The results showed that within eight weeks (equivalent to four hours in total the children were more able to express their perceptions. They watched other children in order to access their signed information and appeared to use this to develop, elaborate, extend and provide reasons when it was their turn to present. There was also evidence of enhanced creativity and originality in their contributions. This pilot study urges the need for further research and suggests that a priority should be given to developing this approach in the teaching of deaf children. Due to the complexity of thinking skills it further recommends that this area should be taught as a separate topic that can inform other subjects.

  11. 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.

  12. COCHLEAR IMPLANTATION PREVALENCE IN ELDERLY

    Directory of Open Access Journals (Sweden)

    A. V. Starokha

    2014-01-01

    Full Text Available Current paper describes an experience of cochlear implantation in elderly. Cochlear implantation has become a widely accepted intervention in the treatment of individuals with severe-to-profound sensorineural hearing loss. Cochlear implants are now accepted as a standard of care to optimize hearing and subsequent speech development in children and adults with deafness. But cochlear implantation affects not only hearing abilities, speech perception and speech production; it also has an outstanding impact on the social life, activities and self-esteem of each patient. The aim of this study was to evaluate the cochlear implantation efficacy in elderly with severe to profound sensorineural hearing loss. There were 5 patients under our observation. Surgery was performed according to traditional posterior tympanotomy and cochleostomy for cochlear implant electrode insertion for all observed patients. The study was conducted in two stages: before speech processor’s activation and 3 months later. Pure tone free field audiometry was performed to each patient to assess the efficiency of cochlear implantation in dynamics. The aim of the study was also to evaluate quality of life in elderly with severe to profound sensorineural hearing loss after unilateral cochlear implantation. Each patient underwent questioning with 36 Item Short Form Health Survey (SF-36. SF-36 is a set of generic, coherent, and easily administered quality-of-life measures. The SF-36 consists of eight scaled scores, which are the weighted sums of the questions in their section. Each scale is directly transformed into a 0-100 scale on the assumption that each question carries equal weight. The eight sections are: physical functioning; physical role functioning; emotional role functioning; vitality; emotional well-being; social role functioning; bodily pain; general health perceptions. Our results demonstrate that cochlear implantation in elderly consistently improved quality of life

  13. Molecular Etiology of Hereditary Single-Side Deafness

    Science.gov (United States)

    Kim, Shin Hye; Kim, Ah Reum; Choi, Hyun Seok; Kim, Min Young; Chun, Eun Hi; Oh, Seung-Ha; Choi, Byung Yoon

    2015-01-01

    Abstract Unilateral sensorineural hearing loss (USNHL)/single-side deafness (SSD) is a frequently encountered disability in children. The etiology of a substantial portion of USNHL/SSD still remains unknown, and genetic causes have not been clearly elucidated. In this study, the authors evaluated the heritability of USNHL/SSD. The authors sequentially recruited 50 unrelated children with SSD. For an etiologic diagnosis, we performed a rigorous review on the phenotypes of family members of all children and conducted, if necessary, molecular genetic tests including targeted exome sequencing of 129 deafness genes. Among the 50 SSD children cohort, the authors identify 4 (8%) unrelated SSD probands from 4 families (SH136, SB173, SB177, and SB199) with another hearing impaired family members. Notably, all 4 probands in our cohort with a familial history of SSD also have pigmentary abnormalities such as brown freckles or premature gray hair within first degree relatives, which may indicate that genes whose products are involved with pigmentary disorder could be candidates for heritable SSD. Indeed, SH136 and SB199 turned out to segregate a mutation in MITF and PAX3, respectively, leading to a molecular diagnosis of Waardenburg syndrome (WS). We report, for the first time in the literature, a significant heritability of pediatric SSD. There is a strong association between the heritability of USNHL/SSD and the pigmentary abnormality, shedding a new light on the understanding of the molecular basis of heritable USNHL/SSD. In case of children with congenital SSD, it would be mandatory to rigorously screen pigmentary abnormalities. WS should also be included in the differential diagnosis of children with USNHL/SSD, especially in a familial form. PMID:26512583

  14. A Micro-Ethnographic Study of the Communication/Language Development in a Japanese Child with Profound Hearing Loss before and after Cochlear Implantation

    Science.gov (United States)

    Kretschmer, Richard R.; Kretschmer, Laura; Kuwahara, Katsura; Truax, Roberta

    2010-01-01

    This study described the communication and spoken language development of a Japanese girl with profound hearing loss who used a cochlear implant from 19 months of age. The girl, Akiko, was born in Belgium where her family was living at that time. After she was identified as deaf at birth, she and her parents were provided with support services.…

  15. Bilateral sudden sensorineural hearing loss as a first symptom of infective endocarditis: two case reports.

    Science.gov (United States)

    Chroni, M; Prappa, E; Kokkevi, I

    2018-04-01

    Septic emboli are an unusual cause of sudden sensorineural hearing loss, for which few reports exist in the literature. This paper presents two cases of sudden sensorineural hearing loss, initially considered as idiopathic, but which were caused by septic emboli. Hearing loss in these cases was bilateral, sequential and total. The first patient had mild fever one week prior to their presentation with sudden sensorineural hearing loss; the other patient had no additional symptoms at presentation. These patients were later diagnosed with infective endocarditis, at two and seven months following the sudden sensorineural hearing loss respectively, showing that septic emboli had been the cause of sudden sensorineural hearing loss. Septic emboli should be considered as a possible cause of sudden sensorineural hearing loss in cases of total hearing loss. This form of hearing loss should prompt the otolaryngologist to further investigate for infective endocarditis.

  16. 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…

  17. Acute sensorineural hearing loss and severe otalgia due to scrub typhus

    Directory of Open Access Journals (Sweden)

    Kim Dong-Min

    2009-10-01

    Full Text Available Abstract Background Scrub typhus is an acute febrile illness caused by Orientia tsutsugamushi. Case presentations We encountered a patient with sensorineural hearing loss complicating scrub typhus, and three patients with scrub typhus who complained of otalgia, which was sudden onset, severe, paroxysmal, intermittent yet persistent pain lasting for several seconds, appeared within 1 week after the onset of fever and rash. The acute sensorineural hearing loss and otalgia were resolved after antibiotic administration. Conclusion When patients in endemic areas present with fever and rash and have sensorineural hearing loss or otalgia without otoscopic abnormalities, clinicians should suspect scrub typhus and consider empirical antibiotic therapy.

  18. Impact of correcting visual impairment and low vision in deaf-mute students in Pune, India.

    Science.gov (United States)

    Gogate, Parikshit; Bhusan, Shashi; Ray, Shantanu; Shinde, Amit

    2016-12-01

    The aim of this study was to evaluate visual acuity and vision function before and after providing spectacles and low vision devices (LVDs) in deaf-mute students. Schools for deaf-mute in West Maharashtra. Hearing-impaired children in all special schools in Pune district underwent detailed visual acuity testing (with teachers' help), refraction, external ocular examination, and fundoscopy. Students with refractive errors and low vision were provided with spectacles and LVD. The LV Prasad-Functional Vision Questionnaire consisting of twenty items was administered to each subject before and after providing spectacles, LVDs. Wilcoxon matched-pairs signed-ranks test. 252/929 (27.1%) students had a refractive error. 794 (85.5%) were profound deaf. Two-hundred and fifty students were dispensed spectacles and LVDs. Mean LogMAR visual acuity before introduction of spectacles and LVDs were 0.33 ± 0.36 which improved to 0.058 (P vision pre- and post-intervention was statistically significant (P vision was much worse than their friend's vision, which was reduced to 17.6% after dispensing spectacles and LVDs. Spectacle and LVD reduced visual impairment and improved vision function in deaf-mute students, augmenting their ability to negotiate in and out of school.

  19. Waardenburg's Syndrome in a Nigerian Family | Onabolu | Nigerian ...

    African Journals Online (AJOL)

    Both girls presented with white forelock, heterochromia irides and sensorineural deafness. WS is inherited as an ... Deafness, which is the most disabling feature of this syndrome should be identified early to prepare the child for proper education. KEY WORDS: Waardenburg's Syndrome, genetic mutation, deafness. [Nig.

  20. Synchronization to auditory and visual rhythms in hearing and deaf individuals

    Science.gov (United States)

    Iversen, John R.; Patel, Aniruddh D.; Nicodemus, Brenda; Emmorey, Karen

    2014-01-01

    A striking asymmetry in human sensorimotor processing is that humans synchronize movements to rhythmic sound with far greater precision than to temporally equivalent visual stimuli (e.g., to an auditory vs. a flashing visual metronome). Traditionally, this finding is thought to reflect a fundamental difference in auditory vs. visual processing, i.e., superior temporal processing by the auditory system and/or privileged coupling between the auditory and motor systems. It is unclear whether this asymmetry is an inevitable consequence of brain organization or whether it can be modified (or even eliminated) by stimulus characteristics or by experience. With respect to stimulus characteristics, we found that a moving, colliding visual stimulus (a silent image of a bouncing ball with a distinct collision point on the floor) was able to drive synchronization nearly as accurately as sound in hearing participants. To study the role of experience, we compared synchronization to flashing metronomes in hearing and profoundly deaf individuals. Deaf individuals performed better than hearing individuals when synchronizing with visual flashes, suggesting that cross-modal plasticity enhances the ability to synchronize with temporally discrete visual stimuli. Furthermore, when deaf (but not hearing) individuals synchronized with the bouncing ball, their tapping patterns suggest that visual timing may access higher-order beat perception mechanisms for deaf individuals. These results indicate that the auditory advantage in rhythmic synchronization is more experience- and stimulus-dependent than has been previously reported. PMID:25460395

  1. The effect of social skills training on perceived competence of female adolescents with deafness.

    Science.gov (United States)

    Soleimanieh Naeini, Tahereh; Keshavarzi Arshadi, Farnaz; Hatamizadeh, Nikta; Bakhshi, Enayatollah

    2013-12-01

    Although there are considerable researches on effectiveness of social skills training, little information is available on the effects of such training on perceived competence of adolescents with deafness. This study was conducted in special school settings to determine the effects of social skills training on perceived competence of female adolescents with deafness. A prepost quasi-experimental design was used to perform the study. Sixty nine female students with deafness who were enrolled in all of the four different special secondary schools in Tehran, Iran, between 2010 and 2011 participated in this research. Two of four secondary schools were randomly allocated to the intervention group (33 students), and the other two to the control group (36 students). The participants were between 11 and 21 years (Mean = 15.43; SD = 1.89), and more than three fourth of each groups ( i.e. 28 students in each groups) were affected by profound hearing impairment . The intervention group participated in twelve bi-weekly sessions. Pretest and posttest data were collected using the 'Hearing Impaired Children Self-Image Test'. The questionnaire was filled by an interviewer. This questionnaire asks students about their feeling toward their own competence in domains of cognitive, physical, socio-emotional and communication competence and school adjustment. The data was analyzed by using SPSS software, version 16. The intervention led to significant improvement in total perceived competence scores of adolescents with deafness (P social skills in adolescents with deafness would improve their sense of competence, and emotional well being.

  2. Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: Implication for early detection and prevention of deafness

    International Nuclear Information System (INIS)

    Dai Pu; Liu Xin; Han Dongyi; Qian Yaping; Huang Deliang; Yuan Huijun; Li Weiming; Yu Fei; Zhang Ruining; Lin Hongyan; He Yong; Yu Youjun; Sun Quanzhu; Qin Huaiyi; Li Ronghua; Zhang Xin; Kang Dongyang; Cao Juyang; Young Wieyen; Guan Minxin

    2006-01-01

    Mutations in mitochondrial DNA (mtDNA) have been found to be associated with sensorineural hearing loss. We report here the clinical, genetic, and molecular characterization of 16 Chinese pedigrees (a total of 246 matrilineal relatives) with aminoglycoside-induced impairment. Clinical evaluation revealed the variable phenotype of hearing impairment including audiometric configuration in these subjects, although these subjects share some common features: being bilateral and sensorineural hearing impairment. Strikingly, these Chinese pedigrees exhibited extremely low penetrance of hearing loss, ranging from 4% to 18%, with an average of 8%. In particular, nineteen of 246 matrilineal relatives in these pedigrees had aminoglycoside-induced hearing loss. Mutational analysis of the mtDNA in these pedigrees showed the presence of homoplasmic 12S rRNA A1555G mutation, which has been associated with hearing impairment in many families worldwide. The extremely low penetrance of hearing loss in these Chinese families carrying the A1555G mutation strongly supports the notion that the A1555G mutation itself is not sufficient to produce the clinical phenotype. Children carrying the A1555G mutation are susceptible to the exposure of aminoglycosides, thereby inducing or worsening hearing impairment, as in the case of these Chinese families. Using those genetic and molecular approaches, we are able to diagnose whether children carry the ototoxic mtDNA mutation. Therefore, these data have been providing valuable information and technology to predict which individuals are at risk for ototoxicity, to improve the safety of aminoglycoside therapy, and eventually to decrease the incidence of deafness

  3. Overexpression of the mitochondrial methyltransferase TFB1M in the mouse does not impact mitoribosomal methylation status or hearing

    DEFF Research Database (Denmark)

    Lee, Seungmin; Rose, Simon; Metodiev, Metodi D

    2015-01-01

    maternally inherited traits. The pathophysiology induced by mtDNA mutations has traditionally been attributed to deficient oxidative phosphorylation, which causes energy crisis with functional impairment of multiple cellular processes. In contrast, it was recently reported that signaling induced......Mitochondrial dysfunction is a well-established cause of sensorineural deafness, but the pathophysiological events are poorly understood. Non-syndromic deafness and predisposition to aminoglycoside-induced deafness can be caused by specific mutations in the 12S rRNA gene of mtDNA and are thus...... by 'hypermethylation' of two conserved adenosines of 12S rRNA in the mitoribosome is of key pathophysiological importance in sensorineural deafness. In support for this concept, it was reported that overexpression of the essential mitochondrial methyltransferase TFB1M in the mouse was sufficient to induce...

  4. Implantes cocleares em crianças portadoras de deficiência auditiva decorrente de meningite Cochlear implant in deaf children due to meningites

    Directory of Open Access Journals (Sweden)

    Maria C. Bevilacqua

    2003-12-01

    and attention deficits as well as inability for learning. Characteristically the hearing loss due to meningitis is bilateral profound sensorineural symmetric and descendent and it is more common in males and in children under 5 years old and it brings severe implications in the emotional, social and development. AIM: To compare the performance of two groups of pre-lingually deaf implanted children, with age varying from 1 year and 10 months to 6 years, with hearing loss due to meningitis and other varied causes. STUDY DESIGN: Transversal cohorte. MATERIAL AND METHOD: 63 profoundly deaf implanted children were evaluated, 25 (40% were male and 38 (60% were females. In 12 cases (19% the hearing loss was caused by meningitis and in 51 cases (81% hearing loss was due to a variety of causes. All participants were submitted to ear nose throat examination and clinical and objective audiological evaluation. CONCLUSIONS: the occurrence of partial insertion was higher in the meningitis group. There were no statically significant differences on word and phoneme recognition as well as in the questionnaire for evaluation of the hearing (MAIS and language (MUSS skills between the groups.

  5. 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…

  6. The impact of cochlear implantation on speech understanding, subjective hearing performance, and tinnitus perception in patients with unilateral severe to profound hearing loss.

    Science.gov (United States)

    Távora-Vieira, Dayse; Marino, Roberta; Acharya, Aanand; Rajan, Gunesh P

    2015-03-01

    This study aimed to determine the impact of cochlear implantation on speech understanding in noise, subjective perception of hearing, and tinnitus perception of adult patients with unilateral severe to profound hearing loss and to investigate whether duration of deafness and age at implantation would influence the outcomes. In addition, this article describes the auditory training protocol used for unilaterally deaf patients. This is a prospective study of subjects undergoing cochlear implantation for unilateral deafness with or without associated tinnitus. Speech perception in noise was tested using the Bamford-Kowal-Bench speech-in-noise test presented at 65 dB SPL. The Speech, Spatial, and Qualities of Hearing Scale and the Abbreviated Profile of Hearing Aid Benefit were used to evaluate the subjective perception of hearing with a cochlear implant and quality of life. Tinnitus disturbance was measured using the Tinnitus Reaction Questionnaire. Data were collected before cochlear implantation and 3, 6, 12, and 24 months after implantation. Twenty-eight postlingual unilaterally deaf adults with or without tinnitus were implanted. There was a significant improvement in speech perception in noise across time in all spatial configurations. There was an overall significant improvement on the subjective perception of hearing and quality of life. Tinnitus disturbance reduced significantly across time. Age at implantation and duration of deafness did not influence the outcomes significantly. Cochlear implantation provided significant improvement in speech understanding in challenging situations, subjective perception of hearing performance, and quality of life. Cochlear implantation also resulted in reduced tinnitus disturbance. Age at implantation and duration of deafness did not seem to influence the outcomes.

  7. 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…

  8. Static and Dynamic Balance in Congenital Severe to Profound Hearing-Impaired Children

    Directory of Open Access Journals (Sweden)

    Farideh HajiHeydari

    2011-09-01

    Full Text Available Background and Aim: Research conducted since the early 1900s has consistently identified differences between deaf and hearing children on performance of a wide variety of motor tasks, most notably balance. Our study was performed to test static and dynamic balance skills in congenital severe to profound hearing impaired children in comparison with normal age-matched children.Methods: This cross-sectional study was conducted on 30 severe to profound hearing impaired and 40 normal children with age 6 to 10 years old. Bruininks-Oseretsky test of motor proficiency 2, balance subset with 9 parts was used for evaluation of balance skills.Results: Hearing-impaired children showed 16.7 to 100% fail results in 7 parts of the balance subset. In normal children fail result was revealed just in 3 parts of the balance subset from 2.5 to 57.5%, and differences between two groups were significant (p<0.0001. There was a significant difference between two groups in two static balance skills of standing on one leg on a line and standing on one leg on a balance beam with eyes closed (p<0.0001.conclusion: It seems that development of static balance skills are longer than dynamic ones. Because severe to profound hearing-impaired children showed more weakness than normal children in both static and dynamic balance abilities, functional tests of balance proficiency can help to identify balance disorders in these children.

  9. DOORS Syndrome: Phenotype, Genotype and Comparison With Coffin-Siris Syndrome

    NARCIS (Netherlands)

    Campeau, Philippe M.; Hennekam, Raoul C.; Aftimos, Salim; Banka, Siddharth; Begleiter, Michael L.; Bilo, Leonilda; Blair, Edward; Burrage, Lindsay C.; Liu, David S.; de Bie, Isabelle; Félix, Têmis Maria; Giltay, Jacques C.; Gibbs, Richard A.; Giuliano, Fabienne; Hadzsiev, Kinga; Hori, Mutsuki; Kariminejad, Ariana; Kayserili, Hülya; Kerr, Bronwyn; Lee, Brendan H.; Lu, James T.; Male, Alison; Meenakshi, Girish; Mey, Antje; Murray, Mitzi L.; Nair, Lal D. V.; Nampoothiri, Sheela; Newman, William G.; Peluso, Silvio; Peters, Heidi; Powell, R.; Repetto, Gabriela M.; Rump, Patrick; Santos-Simarro, Fernando; Stewart, Fiona; van Bever, Yolande; van den Ende, Jenneke; Wieczorek, Dagmar; Wisniewska, Marzena; Sisodiya, Sanjay M.

    2014-01-01

    DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures. Half of the patients with all clinical features have

  10. Disease: H00712 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available is-deafness (KID) syndrome is a rare congenital ectodermal dysplasia affecting the skin, hearing and vision.... Cutaneous findings include red, thickened plaques with scaling that involve palms and soles. Sensorineural deafness or severe hearin

  11. Reorganization of neural systems mediating peripheral visual selective attention in the deaf: An optical imaging study.

    Science.gov (United States)

    Seymour, Jenessa L; Low, Kathy A; Maclin, Edward L; Chiarelli, Antonio M; Mathewson, Kyle E; Fabiani, Monica; Gratton, Gabriele; Dye, Matthew W G

    2017-01-01

    Theories of brain plasticity propose that, in the absence of input from the preferred sensory modality, some specialized brain areas may be recruited when processing information from other modalities, which may result in improved performance. The Useful Field of View task has previously been used to demonstrate that early deafness positively impacts peripheral visual attention. The current study sought to determine the neural changes associated with those deafness-related enhancements in visual performance. Based on previous findings, we hypothesized that recruitment of posterior portions of Brodmann area 22, a brain region most commonly associated with auditory processing, would be correlated with peripheral selective attention as measured using the Useful Field of View task. We report data from severe to profoundly deaf adults and normal-hearing controls who performed the Useful Field of View task while cortical activity was recorded using the event-related optical signal. Behavioral performance, obtained in a separate session, showed that deaf subjects had lower thresholds (i.e., better performance) on the Useful Field of View task. The event-related optical data indicated greater activity for the deaf adults than for the normal-hearing controls during the task in the posterior portion of Brodmann area 22 in the right hemisphere. Furthermore, the behavioral thresholds correlated significantly with this neural activity. This work provides further support for the hypothesis that cross-modal plasticity in deaf individuals appears in higher-order auditory cortices, whereas no similar evidence was obtained for primary auditory areas. It is also the only neuroimaging study to date that has linked deaf-related changes in the right temporal lobe to visual task performance outside of the imaging environment. The event-related optical signal is a valuable technique for studying cross-modal plasticity in deaf humans. The non-invasive and relatively quiet characteristics of

  12. 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…

  13. Phonological processing of rhyme in spoken language and location in sign language by deaf and hearing participants: a neurophysiological study.

    Science.gov (United States)

    Colin, C; Zuinen, T; Bayard, C; Leybaert, J

    2013-06-01

    Sign languages (SL), like oral languages (OL), organize elementary, meaningless units into meaningful semantic units. Our aim was to compare, at behavioral and neurophysiological levels, the processing of the location parameter in French Belgian SL to that of the rhyme in oral French. Ten hearing and 10 profoundly deaf adults performed a rhyme judgment task in OL and a similarity judgment on location in SL. Stimuli were pairs of pictures. As regards OL, deaf subjects' performances, although above chance level, were significantly lower than that of hearing subjects, suggesting that a metaphonological analysis is possible for deaf people but rests on phonological representations that are less precise than in hearing people. As regards SL, deaf subjects scores indicated that a metaphonological judgment may be performed on location. The contingent negative variation (CNV) evoked by the first picture of a pair was similar in hearing subjects in OL and in deaf subjects in OL and SL. However, an N400 evoked by the second picture of the non-rhyming pairs was evidenced only in hearing subjects in OL. The absence of N400 in deaf subjects may be interpreted as the failure to associate two words according to their rhyme in OL or to their location in SL. Although deaf participants can perform metaphonological judgments in OL, they differ from hearing participants both behaviorally and in ERP. Judgment of location in SL is possible for deaf signers, but, contrary to rhyme judgment in hearing participants, does not elicit any N400. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  14. Cell-based neurotrophin treatment supports long-term auditory neuron survival in the deaf guinea pig.

    Science.gov (United States)

    Gillespie, Lisa N; Zanin, Mark P; Shepherd, Robert K

    2015-01-28

    The cochlear implant provides auditory cues to profoundly deaf patients by electrically stimulating the primary auditory neurons (ANs) of the cochlea. However, ANs degenerate in deafness; the preservation of a robust AN target population, in combination with advances in cochlear implant technology, may provide improved hearing outcomes for cochlear implant patients. The exogenous delivery of neurotrophins such as brain-derived neurotrophic factor (BDNF) and neurotrophin-3 is well known to support AN survival in deafness, and cell-based therapies provide a potential clinically viable option for delivering neurotrophins into the deaf cochlea. This study utilized cells that were genetically modified to express BDNF and encapsulated in alginate microspheres, and investigated AN survival in the deaf guinea pig following (a) cell-based neurotrophin treatment in conjunction with chronic electrical stimulation from a cochlear implant, and (b) long-term cell-based neurotrophin delivery. In comparison to deafened controls, there was significantly greater AN survival following the cell-based neurotrophin treatment, and there were ongoing survival effects for at least six months. In addition, functional benefits were observed following cell-based neurotrophin treatment and chronic electrical stimulation, with a statistically significant decrease in electrically evoked auditory brainstem response thresholds observed during the experimental period. This study demonstrates that cell-based therapies, in conjunction with a cochlear implant, shows potential as a clinically transferable means of providing neurotrophin treatment to support AN survival in deafness. This technology also has the potential to deliver other therapeutic agents, and to be used in conjunction with other biomedical devices for the treatment of a variety of neurodegenerative conditions. Copyright © 2014 Elsevier B.V. All rights reserved.

  15. 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.

  16. What is profound?

    DEFF Research Database (Denmark)

    Sobisch, Jan-Ulrich

    2013-01-01

    Discussing the question, which elements on the path are to be considered profound. While a general view is that the most subtle practises are also the most profound, 'Jig-rten-mgon-po maintains that the most fundamental one's are to be considered the most profound....

  17. Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV.

    Science.gov (United States)

    Wang, Hong-Han; Feng, Yong; Li, Hai-Bo; Wu, Hong; Mei, Ling-Yun; Wang, Xing-Wei; Jiang, Lu; He, Chu-Feng

    2017-01-01

    Bartter syndrome type IV, characterized by salt-losing nephropathies and sensorineural deafness, is caused by mutations of BSND or simultaneous mutations of both CLCNKA and CLCNKB. GJB2 is the primary causative gene for non-syndromic sensorineural deafness and associated with several syndromic sensorineural deafness. Owing to the rarity of Bartter syndrome, only a few mutations have been reported in the abovementioned causative genes. To investigate the underlying mutations in a Chinese patient with Bartter syndrome type IV, genetic analysis of BSND, CLCNKA, CLCNKB and GJB2 were performed by polymerase chain reaction and direct sequencing. Finally, double homozygous mutations c.22C > T (p.Arg8Trp) and c.127G > A (Val43Ile) were detected in exon 1 of BSND. Intriguingly, compound heterozygous mutations c.235delC (p.Leu79CysfsX3) and c.109G > A (p.Val37Ile) were also revealed in exon 2 of GJB2 in the same patient. No pathogenic mutations were found in CLCNKA and CLCNKB. Our results indicated that the homozygous mutation c.22C > T was the key genetic reason for the proband, and a digenic effect of BSND and GJB2 might contributed to sensorineural deafness. To our knowledge, it was the first report showing that the GJB2 gene mutations were detected in Bartter syndrome. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  18. Metabolic Syndrome Increases the Risk of Sudden Sensorineural Hearing Loss in Taiwan: A Case-Control Study.

    Science.gov (United States)

    Chien, Chen-Yu; Tai, Shu-Yu; Wang, Ling-Feng; Hsi, Edward; Chang, Ning-Chia; Wu, Ming-Tsang; Ho, Kuen-Yao

    2015-07-01

    Sudden sensorineural hearing loss has been reported to be associated with diabetes mellitus, hypertension, and hyperlipidemia in previous studies. The aim of this study was to examine whether metabolic syndrome increases the risk of sudden sensorineural hearing loss in Taiwan. A case-control study. Tertiary university hospital. We retrospectively investigated 181 cases of sudden sensorineural hearing loss and 181 controls from the Department of Otorhinolaryngology, Kaohsiung Medical University Hospital, in southern Taiwan from 2010 to 2012, comparing their clinical variables. We analyzed the relationship between metabolic syndrome and sudden sensorineural hearing loss. Metabolic syndrome was defined according to the National Cholesterol Education Program Adult Treatment Panel III with Asian modifications. The demographic and clinical characteristics, audiometry results, and outcome were reviewed. Subjects with metabolic syndrome had a 3.54-fold increased risk (95% confidence interval [CI] = 2.00-6.43, P diabetes mellitus, hypertension, and hyperlipidemia. With increases in the number of metabolic syndrome components, the risk of sudden sensorineural hearing loss increased (P for trend Vertigo was associated with a poor outcome (P = .02; 95% CI = 1.13~5.13, adjusted odds ratio = 2.39). The hearing loss pattern may influence the outcome of sudden sensorineural hearing loss (P Vertigo and total hearing loss were indicators of a poor outcome in sudden sensorineural hearing loss. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2015.

  19. Pediatric Idiopathic Intracranial Hypertension Presenting With Sensorineural Hearing Loss.

    Science.gov (United States)

    Reitsma, Sietze; Stokroos, Robert; Weber, Jacobiene W; van Tongeren, Joost

    2015-12-01

    To present the rare case of a young boy with idiopathic intracranial hypertension presenting with bilateral sensorineural hearing loss developing over several months. This was accompanied by headaches, otalgia, tinnitus, and vertigo. Furthermore, we aim to provide a concise review on this matter, as this report represents the second case in literature of pediatric idiopathic intracranial hypertension presenting with hearing loss. Workup of a 9-year-old boy with bilateral sensorineural hearing loss, including (among others) physical examination, audiometry, diagnostic imaging, and lumbar puncture. Physical examination including fundoscopy as well as imaging showed no abnormalities. At presentation, pure tone audiometry revealed bone conduction thresholds of about 30 dB HL in both ears. Two months later, this declined to about 35 dB HL in both ears. Lumbar puncture revealed an increased intracranial pressure. The boy was thus diagnosed with idiopathic intracranial hypertension. After the lumbar puncture, the otological complaints gradually resolved, and the hearing normalized (bone conduction thresholds of 0-5 dB HL). Although rare, sensorineural hearing loss in the pediatric population together with otalgia, tinnitus, and vertigo can be due to idiopathic intracranial hypertension and as such can be reversible. © The Author(s) 2015.

  20. 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.

  1. Cochlear implantation in X-linked deafness - How to manage the surgical challenges.

    Science.gov (United States)

    Saeed, Haroon; Powell, Harry R F; Saeed, Shakeel R

    2016-07-01

    In children with X-linked deafness, cochlear malformations challenge the implant surgeon to avoid electrode insertion into the internal auditory meatus and prevent a continuous cerebrospinal fluid (CSF) leak. We describe our experience of cochlear implantation (CI) in two children with profound hearing loss secondary to X-linked deafness, highlighting safer operative techniques to avoid potential complications. Descriptive cases of two children with X-linked deafness (patient 1 and patient 2) undergoing CI. Peri-operative imaging and work-up to surgery are discussed. Specific operative considerations, post-operative complications and subsequent audiological performance are highlighted. In each case, intra-operative fluoroscopic imaging ensured intra-cochlear insertion of electrodes. Expected CSF gusher was seen in each case which was initially controlled by packing around the cochleostomy and array with temporalis muscle and fascia. Patient 1 developed post-operative meningitis secondary to continuous CSF leak. We avoided further significant CSF leak by planning staged procedures for patient 2, with obliteration of the middle ear cleft and external ear canal (EAC) at the time of implantation. In both patients, bilateral implantation successfully provided hearing thresholds of less than 35 dB in both ears at routine follow up. When planning for CI in children with radiological features of X-linked deafness, intra-operative imaging should be utilized to ensure correct electrode positioning. Traditional methods of stopping a CSF gusher may not suffice. We therefore encourage additional surgical obliteration of the middle ear space and EAC to avoid persistent CSF leak and its associated complications.

  2. Sensorineural hearing loss and prematurity

    OpenAIRE

    Marlow, E.; Hunt, L.; Marlow, N.

    2000-01-01

    OBJECTIVE—To elucidate clinical antecedents of sensorineural hearing loss (SNHL) in very preterm infants.
DESIGN—Case-control study.
SUBJECTS—Fifteen children < 33 weeks' gestation with significant SNHL born between 1 January 1990 and 31 December 1994, detected within 9 months of birth, and 30 matched control children.
METHODOLOGY—Perinatal variables in the two groups were compared using non-parametric tests and conditional logistic regression (EGRET).
RESULTS—Median birth ...

  3. A novel GATA3 nonsense mutation in a newly diagnosed adult patient of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.

    Science.gov (United States)

    Nanba, Kazutaka; Usui, Takeshi; Nakamura, Michikazu; Toyota, Yuko; Hirota, Keisho; Tamanaha, Tamiko; Kawashima, Sachiko-Tsukamoto; Nakao, Kanako; Yuno, Akiko; Tagami, Tetsuya; Naruse, Mitsuhide; Shimatsu, Akira

    2013-01-01

    Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by a GATA3 gene mutation. Here we report a novel mutation of GATA3 in a patient diagnosed with HDR syndrome at the age of 58 with extensive intracranial calcification. A 58-year-old Japanese man showed severe hypocalcemia and marked calcification in the basal ganglia, cerebellum, deep white matter, and gray-white junction on computed tomography (CT). The serum intact parathyroid hormone level was relatively low against low serum calcium concentration. The patient had been diagnosed with bilateral sensorineural deafness in childhood and had a family history of hearing disorders. Imaging studies revealed no renal anomalies. The patient was diagnosed with HDR syndrome, and genetic testing was performed. Genetic analysis of GATA3 showed a novel nonsense mutation at codon 198 (S198X) in exon 3. The S198X mutation leads to a loss of two zinc finger deoxyribonucleic acid (DNA) binding domains and is considered to be responsible for HDR syndrome. We identified a novel nonsense mutation of GATA3 in an adult patient with HDR syndrome who showed extensive intracranial calcification.

  4. Bartter syndrome in two sisters with a novel mutation of the CLCNKB gene, one with deafness.

    Science.gov (United States)

    Robitaille, Pierre; Merouani, Aicha; He, Ning; Pei, York

    2011-09-01

    This article describes two sisters with type III Bartter syndrome (BS) due to a novel missense variant of the CLCNKB gene. The phenotypic expression of the disease was very different in these two siblings. In one sister, the disease followed a very severe course, especially in the neonatal period and as a toddler. Both the classic symptoms and the biochemical features of the syndrome were striking. In addition, she presented with sensorineural deafness, a complication yet unreported in this subtype of BS In contrast, the least affected sister was symptom free and the biochemical features of the disease although present remained discrete throughout the prolonged follow-up. It is suggested that such a difference in the phenotypic expression of the disease is possibly secondary to the modifier effect of a gene and/or results from environmental factor(s).

  5. Sudden (reversible) sensorineural hearing loss in pregnancy.

    LENUS (Irish Health Repository)

    Kenny, R

    2011-03-01

    Sudden hearing loss directly associated with pregnancy or birth is a little known and rare occurrence. The temporary, unilateral, low-frequency sensorineural hearing loss in this case was reported after the birth of the patient\\'s first child, and again during the third trimester of her second pregnancy.

  6. 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…

  7. Hereditary deafness with hydrops and anomalous calcium phosphate deposits

    International Nuclear Information System (INIS)

    Johnsson, L.G.; Rouse, R.C.; Hawkins, J.E. Jr.; Kingsley, T.C.; Wright, C.G.

    1981-01-01

    The temporal bones from a 58-year-old white woman who had had hereditary congenital deafness were examined with the techniques of microdissection and surface preparations followed by sectioning of the modiolus. There was bilateral, almost total sensorineural degeneration, which also involved the saccule. The degeneration of the distal processes of the cochlear neurons in the osseous spiral lamina was almost complete, whereas numerous ganglion cells and proximal processes remained in the modiolus and the internal auditory canal. Severe cochleo-saccular hydrops was present in the left ear with Reissner's membrane bulging into the horizontal canal. X-ray diffraction and electron probe analysis were used to study the abnormal crystalline deposits in both ears. On the left side the saccular otoconia were composed of calcite, but the utricular macula was covered by a crust of apatite spherulites. More apatite occurred around the maculae and in the scala media. The cupulae were composed of apatite and octacalcium phosphate. On the right side the utricular otoconia were of normal calcite, but there was a deposit of apatite on the macula sacculi. The upper part of the scala media was completely filled by a deposit of apatite and octacalcium phosphate

  8. Hereditary deafness with hydrops and anomalous calcium phosphate deposits

    Energy Technology Data Exchange (ETDEWEB)

    Johnsson, L.G.; Rouse, R.C.; Hawkins, J.E. Jr.; Kingsley, T.C.; Wright, C.G.

    1981-11-01

    The temporal bones from a 58-year-old white woman who had had hereditary congenital deafness were examined with the techniques of microdissection and surface preparations followed by sectioning of the modiolus. There was bilateral, almost total sensorineural degeneration, which also involved the saccule. The degeneration of the distal processes of the cochlear neurons in the osseous spiral lamina was almost complete, whereas numerous ganglion cells and proximal processes remained in the modiolus and the internal auditory canal. Severe cochleo-saccular hydrops was present in the left ear with Reissner's membrane bulging into the horizontal canal. X-ray diffraction and electron probe analysis were used to study the abnormal crystalline deposits in both ears. On the left side the saccular otoconia were composed of calcite, but the utricular macula was covered by a crust of apatite spherulites. More apatite occurred around the maculae and in the scala media. The cupulae were composed of apatite and octacalcium phosphate. On the right side the utricular otoconia were of normal calcite, but there was a deposit of apatite on the macula sacculi. The upper part of the scala media was completely filled by a deposit of apatite and octacalcium phosphate.

  9. Sensorineural hearing loss following irradiation to the malignant tumor of the head and neck

    International Nuclear Information System (INIS)

    Murakami, Masafumi; Kobari, Hitomi; Kanno, Hidetaka; Aikawa, Tohru; Anzai, Tomohiro; Okamura, Hiro-oki; Ohtani, Iwao; Hoshino, Toshiaki

    1989-01-01

    We observed sensorineural hearing loss following X-ray irradiation to the malignant tumor of head and neck. There were 24 patients whose auditory organs lied within the irradiation field. Ten of these patients were affected by sensorineural hearing loss. Hearing loss occurred at a high frequency in elderly patients, epipharynx tumor and high dose of irradiation. Many cases revealed high tone hearing loss. Most cases showed about a 20∼30 dB hearing loss, so their impediment seemed not severe in daily life. In some of these cases, we could have temporal bone findings, but there were no particular findings relevant to sensorineural hearing loss. (author)

  10. Connexin 26 ( GJB2 ) mutation in KID syndrome: An Egyptian patient

    African Journals Online (AJOL)

    Keratitis ± ichthyosis ± deafness (KID) syndrome is a rare disorder characterized by the occurrence of localized erythematous scaly skin lesions, severe bilateral keratitis, and sensorineural deafness. Other ocular manifestations include corneal epithelial defects and scarring, which cause progressive decline of visual acuity ...

  11. 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.

  12. Megadolicho basilar artery as a cause of asymmetrical sensorineural hearing loss - case report

    Directory of Open Access Journals (Sweden)

    Melo, Antonio Antunes

    2011-07-01

    Full Text Available Introduction: At the differentiated diagnosis of asymmetrical sensorineural hearing losses, vascular disorders are present, one of which is megadolicho basilar artery. This disease is generally asymptomatic, and when symptoms are found, they can be caused by a compression or ischemia. Clinically, sensorineural hearing loss, tinnitus, headache, facial hypoesthesia, trigeminal neuralgia, vertigo, diplopia and facial palsy, among others, are likely to occur. The image examination of choice for its diagnosis is nuclear magnetic resonance. The megadolicho basilar artery therapy can be surgical or conservative, according to the associated findings. A multidisciplinary approach, including a neurologist, neurosurgeon and an otorhinolaryngologist is recommended for a proper administration of the case. Objective: Report the case of a patient with asymmetrical sensorineural hearing loss, diagnosed of megadolicho basilar artery. Case report: JBS, 57-year-old white male with a history of asymmetrical sensorineural hearing loss and bilateral whistle-like tinnitus for several years. The otorhinolaryngologic evaluation, including otoscopy, anterior rhinoscopy and oral pharynx, was normal. Final Comments: The treatment consisted in following up with the patient, controlling the tinnitus by drugs and using an individual sound amplification apparatus on the left ear.

  13. Acute unilateral sensorineural hearing loss associated with anabolic steroids and polycythaemia: case report.

    Science.gov (United States)

    Tikka, T; Mistry, N; Janjua, A

    2016-03-01

    Unilateral sudden sensorineural hearing loss due to an infarct in the vertebrobasilar system has been widely reported. Most patients have a background of traditional coronary risk factors related to these cerebrovascular episodes. A 32-year-old male, a regular user of anabolic steroids, presented to the emergency department with unilateral sensorineural hearing loss and symptoms suggestive of an infarct of the anterior inferior cerebellar artery but in the absence of risk factors for ischaemic stroke. Magnetic resonance imaging confirmed the presence of infarction in the region supplied by the anterior inferior cerebellar artery. Polycythaemia was found on haematological analysis, which we believe was secondary to the use of anabolic steroids. The patient was commenced on aspirin as per the stroke management protocol. There was resolution of neurological symptomatology six weeks after the episode, but no improvement in hearing. To our knowledge, this is the first case report of unilateral sensorineural hearing loss secondary to the use of anabolic steroids causing polycythaemia. This cause should be considered in the differential diagnosis of patients presenting with sensorineural hearing loss, especially in young males, when no other risk factors can be identified.

  14. Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.

    Science.gov (United States)

    Weil, D; Levy, G; Sahly, I; Levi-Acobas, F; Blanchard, S; El-Amraoui, A; Crozet, F; Philippe, H; Abitbol, M; Petit, C

    1996-04-16

    The gene encoding human myosin VIIA is responsible for Usher syndrome type III (USH1B), a disease which associates profound congenital sensorineural deafness, vestibular dysfunction, and retinitis pigmentosa. The reconstituted cDNA sequence presented here predicts a 2215 amino acid protein with a typical unconventional myosin structure. This protein is expected to dimerize into a two-headed molecule. The C terminus of its tail shares homology with the membrane-binding domain of the band 4.1 protein superfamily. The gene consists of 48 coding exons. It encodes several alternatively spliced forms. In situ hybridization analysis in human embryos demonstrates that the myosin VIIA gene is expressed in the pigment epithelium and the photoreceptor cells of the retina, thus indicating that both cell types may be involved in the USH1B retinal degenerative process. In addition, the gene is expressed in the human embryonic cochlear and vestibular neuroepithelia. We suggest that deafness and vestibular dysfunction in USH1B patients result from a defect in the morphogenesis of the inner ear sensory cell stereocilia.

  15. Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human

    NARCIS (Netherlands)

    Charizopoulou, N.; Lelli, A.; Schraders, M.; Ray, K.; Hildebrand, M.S.; Ramesh, A.; Srisailapathy, C.R.; Oostrik, J.; Admiraal, R.J.C.; Neely, H.R.; Latoche, J.R.; Smith, R.J.; Northup, J.K.; Kremer, J.M.J.; Holt, J.R.; Noben-Trauth, K.

    2011-01-01

    Sensorineural hearing loss affects the quality of life and communication of millions of people, but the underlying molecular mechanisms remain elusive. Here, we identify mutations in Gipc3 underlying progressive sensorineural hearing loss (age-related hearing loss 5, ahl5) and audiogenic seizures

  16. Static and dynamic balance of children and adolescents with sensorineural hearing loss

    OpenAIRE

    Melo, Renato de Souza; Marinho, Sônia Elvira dos Santos; Freire, Maryelly Evelly Araújo; Souza, Robson Arruda; Damasceno, Hélio Anderson Melo; Raposo, Maria Cristina Falcão

    2017-01-01

    ABSTRACT Objective To assess the static and dynamic balance performance of students with normal hearing and with sensorineural hearing loss. Methods A cross-sectional study assessing 96 students, 48 with normal hearing and 48 with sensorineural hearing loss of both sexes, aged 7 and 18 years. To evaluate static balance, Romberg, Romberg-Barré and Fournier tests were used; and for the dynamic balance, we applied the Unterberger test. Results Hearing loss students showed more changes in static ...

  17. Static and dynamic balance of children and adolescents with sensorineural hearing loss

    OpenAIRE

    Melo, Renato de Souza; Marinho, Sônia Elvira dos Santos; Freire, Maryelly Evelly Araújo; Souza, Robson Arruda; Damasceno, Hélio Anderson Melo; Raposo, Maria Cristina Falcão

    2017-01-01

    ABSTRACT Objective To assess the static and dynamic balance performance of students with normal hearing and with sensorineural hearing loss. Methods A cross-sectional study assessing 96 students, 48 with normal hearing and 48 with sensorineural hearing loss of both sexes, aged 7 and 18 years. To evaluate static balance, Romberg, Romberg-Barré and Fournier tests were used; and for the dynamic balance, we applied the Unterberger test. Results Hearing loss students showed more changes in s...

  18. 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…

  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 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…

  1. Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.

    Science.gov (United States)

    Nishio, Shin-Ya; Takumi, Yutaka; Usami, Shin-Ichi

    2017-05-01

    Cochlear implantation (CI), which directly stimulates the cochlear nerves, is the most effective and widely used medical intervention for patients with severe to profound sensorineural hearing loss. The etiology of the hearing loss is speculated to have a major influence of CI outcomes, particularly in cases resulting from mutations in genes preferentially expressed in the spiral ganglion region. To elucidate precise gene expression levels in each part of the cochlea, we performed laser-capture micro dissection in combination with next-generation sequencing analysis and determined the expression levels of all known deafness-associated genes in the organ of Corti, spiral ganglion, lateral wall, and spiral limbs. The results were generally consistent with previous reports based on immunocytochemistry or in situ hybridization. As a notable result, the genes associated with many kinds of syndromic hearing loss (such as Clpp, Hars2, Hsd17b4, Lars2 for Perrault syndrome, Polr1c and Polr1d for Treacher Collins syndrome, Ndp for Norrie Disease, Kal for Kallmann syndrome, Edn3 and Snai2 for Waardenburg Syndrome, Col4a3 for Alport syndrome, Sema3e for CHARGE syndrome, Col9a1 for Sticker syndrome, Cdh23, Cib2, Clrn1, Pcdh15, Ush1c, Ush2a, Whrn for Usher syndrome and Wfs1 for Wolfram syndrome) showed higher levels of expression in the spiral ganglion than in other parts of the cochlea. This dataset will provide a base for more detailed analysis in order to clarify gene functions in the cochlea as well as predict CI outcomes based on gene expression data. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

  2. Sensorineural Hearing Loss and Celiac Disease: A Coincidental Finding

    Directory of Open Access Journals (Sweden)

    Umberto Volta

    2009-01-01

    Full Text Available BACKGROUND: Celiac disease (CD can be associated with a variety of extraintestinal manifestations, including neurological diseases. A new neurological correlation has been found between CD and sensorineural hearing loss (SNHL.

  3. Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe Deafness

    Directory of Open Access Journals (Sweden)

    Rink Nikki

    2012-01-01

    Full Text Available Hereditary distal renal tubular acidosis (dRTA is caused by mutations of genes encoding subunits of the H+-ATPase (ATP6V0A4 and ATP6V1B1 expressed in α-intercalated cells of the distal renal tubule and in the cochlea. We report on a 2-year-old girl with distal RTA and profound speech delay which was initially misdiagnosed as autism. Genetic analysis showed compound heterozygous mutations with one known and one novel mutation of the ATP6V1B1 gene; cerebral magnetic resonance imaging (MRI revealed bilateral enlargement of the endolymphatic sacs of the inner ear. With improved cooperation, audiometric testing showed that hearing loss was most profound on the right, where endolymphatic sac enlargement was greatest, demonstrating a clear link between the degree of deafness and the degree of inner ear abnormality. This case indicates the value of MRI for diagnosis of inner ear involvement in very young children with distal RTA. Although citrate therapy quickly corrects the acidosis and restores growth, early diagnosis of deafness is crucial so that hearing aids can be used to assist acquisition of speech and to provide enough auditory nerve stimulation to assure the affected infants remain candidates for cochlear implantation.

  4. Understanding minds: early cochlear implantation and the development of theory of mind in children with profound hearing impairment.

    Science.gov (United States)

    Sundqvist, Annette; Lyxell, Björn; Jönsson, Radoslava; Heimann, Mikael

    2014-03-01

    The present study investigates how auditory stimulation from cochlear implants (CI) is associated with the development of Theory of Mind (ToM) in severely and profoundly hearing impaired children with hearing parents. Previous research has shown that deaf children of hearing parents have a delayed ToM development. This is, however, not always the case with deaf children of deaf parents, who presumably are immersed in a more vivid signing environment. Sixteen children with CI (4.25 to 9.5 years of age) were tested on measures of cognitive and emotional ToM, language and cognition. Eight of the children received their first implant relatively early (before 27 months) and half of them late (after 27 months). The two groups did not differ in age, gender, language or cognition at entry of the study. ToM tests included the unexpected location task and a newly developed Swedish social-emotional ToM test. The tests aimed to test both cognitive and emotional ToM. A comparison group of typically developing hearing age matched children was also added (n=18). Compared to the comparison group, the early CI-group did not differ in emotional ToM. The late CI-group differed significantly from the comparison group on both the cognitive and emotional ToM tests. The results revealed that children with early cochlear implants solved ToM problems to a significantly higher degree than children with late implants, although the groups did not differ on language or cognitive measures at baseline. The outcome suggests that early cochlear implantation for deaf children in hearing families, in conjunction with early social and communicative stimulation in a language that is native to the parents, can provide a foundation for a more normalized ToM development. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  5. Disease: H00446 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available al-deafness-hand syndrome revisited. ... JOURNAL ... Am J Med Genet A 123A:91-4 (2003) DOI:10.1002/ajmg.a.20501 ... Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness. ... JOURNAL ... Am J Med Genet 15:71-7 (1983) DOI:10.1002/ajmg.1320150109

  6. Concomitant imaging and genetic findings in children with unilateral sensorineural hearing loss.

    Science.gov (United States)

    Gruber, M; Brown, C; Mahadevan, M; Neeff, M

    2017-08-01

    To describe the concomitant imaging and genetic findings in children diagnosed with non-syndromic unilateral sensorineural hearing loss. A retrospective cohort study was conducted of 60 children diagnosed between January 2005 and December 2015 in a tertiary-level paediatric institution. Average age at diagnosis was 4.3 years. All children were considered non-syndromic. Hearing loss was categorised as mild (17 children), moderate (17 children), severe (7 children) or profound (19 children). Imaging was performed in 43 children (71.66 per cent). Nineteen patients (44.2 per cent) had positive computed tomography or magnetic resonance imaging findings. Genetic testing was performed in 51 children (85 per cent). Sixteen children (31 per cent) tested positive to connexin 26 (GJB2); 1 patient (2 per cent) had a homozygous mutation of GJB2 and 15 were heterozygous carriers. Amongst children who tested positive as heterozygous carriers of a GJB2 mutation, there was a high rate of positive imaging findings (47 per cent compared to 37.2 per cent in the total cohort). A genetic abnormality was confirmed in 50 per cent of children with positive imaging findings who underwent genetic testing. Rates of concomitant imaging and genetic findings suggest that both investigations are of value in the study of these patients.

  7. 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

  8. 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…

  9. Sudden Sensorineural Hearing Loss; Prognostic Factors

    OpenAIRE

    Arjun, Dass; Neha, Goel; Surinder K, Singhal; Ravi, Kapoor

    2015-01-01

    Introduction: Sudden sensorineural hearing loss (SSNHL) is a frightening and frustrating symptom for the patient as well as the physician. Prognosis is affected by multiple factors including duration of hearing loss, presence of associated vertigo and tinnitus, and co-morbidities such as hypertension and diabetes.   Materials and Methods: Forty subjects presenting to our department with features of sudden hearing loss were included in the study. Detailed otological history and examination, se...

  10. Prevalence of long QT syndrome and other cardiac defects in deaf-mute children

    International Nuclear Information System (INIS)

    Niaz, A.; Rizvi, S.F.U.; Khurram, D.

    2011-01-01

    Background: Long QT syndrome is considered a fatal disease because of its association with ventricular arrhythmias and sudden cardiac death. Objectives of study were to determine the prevalence of long QT syndrome and other heart diseases, in deaf-mute children. Methods: A Cross-sectional descriptive study was conducted at Cholistan special education centre and Cardiology department, Sheikh Zayed hospital Rahim Yar Khan, Pakistan in September 2006. A total of 104 congenitally deaf-mute children were assessed. Height, weight and blood pressure measured, 12-lead electrocardiogram done and QTc calculated using Bazette's formula. Children with prolonged QTc underwent 24-hour ambulatory ECG recording. All were auscultated following complete protocol. A child with murmur was further evaluated with colour Doppler echocardiography. Audiometry was performed on all the children and the result interpreted according to WHO recommendations. Diagnosis of LQTS was based on Revised Schwartz criteria. Results: Out of 104 children, 62 were male with mean age 11.89 yrs. The average systolic and diastolic BP was 97/67 mmHg. Average height was 126 Cm. All children had moderate to severe bilateral sensorineural hearing loss (40-80 dB). One child had associated Patent Ductus Arteriosis. Fifteen had an innocent murmur. Prevalence of congenital heart disease was found to be 0.1/1000. Four children had QT interval more than 440 mSec, (range 0.46-0.47 mSec.). Both genders were equally affected. Three children had high probability of LQTS and one had intermediate probability. Screening of family of these 4 patients showed prolonged QT interval in the sibling of one patient. Conclusion: Our study highlights the significant prevalence of Jervell Lange-Nielsen Syndrome in Pakistani deaf-mute children, which may be associated to the high level of consanguinity in this region. Awareness of this syndrome among health care providers is needed as timely diagnosis and subsequent treatment may prevent

  11. Identification of a Novel TECTA mutation in a Chinese DFNA8/12 family with prelingual progressive sensorineural hearing impairment.

    Directory of Open Access Journals (Sweden)

    Zhengyue Li

    Full Text Available Tectorial membrane, an extracellular matrix of the cochlea, plays a crucial role in the transmission of sound to the sensory hair cells. Alpha-tectorin is the most important noncollagenous component of the tectorial membrane and the otolith membrane in the maculae of the vestibular system. Defects in TECTA, the gene encodes alpha-tectorin, are cause of both dominant (DFNA8/12 and recessive (DFNB21 forms of deafness. Here, we report a three-generation Chinese family characterized by prelingual progressive sensorineural hearing impairment. We mapped the disease locus to chromosome 11q23-24 region, overlapping with the DFNA8/12 locus. Sequencing of candidate gene TECTA revealed a heterozygous c.5945C>A substitution in exon 19, causing amino acid substitution of Ala to Asp at a conservative position 1982. The A1982D substitution is consistent with hearing loss in this Chinese family and has not been found in 200 random control chromosomes. To our knowledge, this is the first TECTA mutation identified in Chinese population. Our data provides additional molecular and clinical information for establishing a better genotype-phenotype understanding of DFNA8/12.

  12. Evaluation of the outcome of CT and MR imaging in pediatric patients with bilateral sensorineural hearing loss.

    Science.gov (United States)

    van Beeck Calkoen, E A; Merkus, P; Goverts, S T; van de Kamp, J M; Mulder, M F; Sanchez Aliaga, E; Hensen, E F

    2018-05-01

    To evaluate the clinically relevant abnormalities as visualized on CT and MR imaging in children with symmetric and asymmetric bilateral sensorineural hearing loss (SNHL), in relation to age and the severity of hearing loss. Retrospective cohort study. Tertiary referral otology and audiology center. From January 2006 until January 2016, a total of 207 children diagnosed with symmetric and asymmetric bilateral SNHL were included. They underwent CT and/or MR imaging for the evaluation of the etiology of their hearing loss. Radiologic abnormalities associated with SNHL. 302 scans were performed in 207 children (median age of 0.8 years old) with bilateral SNHL. The most frequently identified cause of bilateral SNHL was a malformation of the labyrinth. The combined diagnostic yield of CT and MR imaging was 32%. The diagnostic yield of MR (34%) was considerably higher than that of CT (20%). We found a higher rate of abnormalities in children with profound hearing loss (41%) compared to milder hearing loss (8-29%), and in asymmetric SNHL (52%) compared to symmetric SNHL (30%). Imaging is essential in the etiologic evaluation of children with bilateral SNHL. The highest diagnostic yield is found in children with bilateral asymmetric SNHL or profound SNHL. Based on our findings, MR is the primary imaging modality of choice in the etiological evaluation of children with bilateral SNHL because of its high diagnostic yield. Copyright © 2018. Published by Elsevier B.V.

  13. 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...

  14. Postural control assessment in students with normal hearing and sensorineural hearing loss.

    Science.gov (United States)

    Melo, Renato de Souza; Lemos, Andrea; Macky, Carla Fabiana da Silva Toscano; Raposo, Maria Cristina Falcão; Ferraz, Karla Mônica

    2015-01-01

    Children with sensorineural hearing loss can present with instabilities in postural control, possibly as a consequence of hypoactivity of their vestibular system due to internal ear injury. To assess postural control stability in students with normal hearing (i.e., listeners) and with sensorineural hearing loss, and to compare data between groups, considering gender and age. This cross-sectional study evaluated the postural control of 96 students, 48 listeners and 48 with sensorineural hearing loss, aged between 7 and 18 years, of both genders, through the Balance Error Scoring Systems scale. This tool assesses postural control in two sensory conditions: stable surface and unstable surface. For statistical data analysis between groups, the Wilcoxon test for paired samples was used. Students with hearing loss showed more instability in postural control than those with normal hearing, with significant differences between groups (stable surface, unstable surface) (ppostural control compared to normal hearing students of the same gender and age. Copyright © 2014 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  15. Constraint-induced sound therapy for sudden sensorineural hearing loss – behavioral and neurophysiological outcomes

    OpenAIRE

    Hidehiko Okamoto; Munehisa Fukushima; Henning Teismann; Lothar Lagemann; Tadashi Kitahara; Hidenori Inohara; Ryusuke Kakigi; Christo Pantev

    2014-01-01

    Sudden sensorineural hearing loss is characterized by acute, idiopathic hearing deterioration. We report here the development and evaluation of “constraint-induced sound therapy”, which is based on a well-established neuro-rehabilitation approach, and which is characterized by the plugging of the intact ear (“constraint”) and the simultaneous, extensive stimulation of the affected ear with music. The sudden sensorineural hearing loss patients who received the constraint-induced sound therapy ...

  16. 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.

  17. Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.

    Directory of Open Access Journals (Sweden)

    Kentaro Mori

    Full Text Available Sensorineural hearing loss is one of the most common neurosensory disorders in humans. The incidence of SNHL is estimated to be 1 in 500-1000 newborns. In more than half of these patients, the hearing loss is associated with genetic causes. In Japan, genetic testing for the patients with SNHL using the Invader assay to screen for 46 mutations in 13 deafness genes was approved by the Ministry of Health, Labour and Welfare for inclusion in social health insurance coverage in 2012. Furthermore, from August 2015, this genetic testing has been expanded to screen for 154 mutations in 19 deafness genes using targeted genomic enrichment with massively parallel DNA sequencing combined with the Invader assay and TaqMan genotyping. For this study we analyzed 717 unrelated Japanese hearing loss patients. The total allele frequency of 154 mutations in 19 deafness genes was 32.64% (468/1434 and the total numbers of cases associated with at least one mutation was 44.07% (316/717. Among these, we were able to diagnose 212 (30% patients, indicating that the present screening could efficiently identify causative mutations in hearing loss patients. It is noteworthy that 27 patients (3.8% had coexistent multiple mutations in different genes. Five of these 27 patients (0.7%, 5/717 overall were diagnosed with genetic hearing loss affected by concomitant with responsible mutations in more than two different genes. For patients identified with multiple mutations in different genes, it is necessary to consider that several genes might have an impact on their phenotypes.

  18. 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...

  19. 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…

  20. 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.

  1. 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

  2. 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…

  3. Mechanisms of Sensorineural Cell Damage, Death and Survival in the Cochlea

    Directory of Open Access Journals (Sweden)

    Allen Frederic Ryan

    2015-04-01

    Full Text Available The majority of acquired hearing loss, including presbycusis, is caused by irreversible damage to the sensorineural tissues of the cochlea. This article reviews the intracellular mechanisms that contribute to sensorineural damage in the cochlea, as well as the survival signaling pathways that can provide endogenous protection and tissue rescue. These data have primarily been generated in hearing loss not directly related to age. However, there is evidence that similar mechanisms operate in presbycusis. Moreover, accumulation of damage from other causes can contribute to age-related hearing loss. Potential therapeutic interventions to balance opposing but interconnected cell damage and survival pathways, such as antioxidants, anti-apoptotics, and pro-inflammatory cytokine inhibitors, are also discussed.

  4. 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...

  5. Cochlear implant: Speech and language development in deaf and hard of hearing children following implantation

    Directory of Open Access Journals (Sweden)

    Ostojić Sanja

    2011-01-01

    Full Text Available Bacground/Aim. Almost 200 cochlear implantations were done in the four centers (two in Belgrade, per one in Novi Sad and Niš in Serbia from 2002 to 2009. Less than 10% of implantees were postlingually deaf adults. The vast majority, i.e. 90% were pre- and perilingually profoundly deaf children. The aim of this study was to assess the influence of improved auditory perception due to cochlear implantation on comprehension of abstract words in children as compared with hearing impaired children with conventional hearing aids and normal hearing children. Methods. Thirty children were enrolled in this study: 20 hearing impaired and 10 normal hearing. The vocabulary test was used. Results. The overall results for the whole test (100 words showed a significant difference in favor of the normal hearing as compared with hearing impaired children. The normal hearing children successfully described or defined 77.93% of a total of 100 words. Success rate for the cochlear implanted children was 26.87% and for the hearing impaired children with conventional hearing aids 20.32%. Conclusion. Testing for abstract words showed a statistically significant difference between the cochlear implanted and the hearing impaired children with hearing aids (Mann- Whitney U-test, p = 0.019 implying considerable advantage of cochlear implants over hearing aids regarding successful speech development in prelingually deaf children.

  6. [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.

  7. Wolfram syndrome: A rare mimic of type 1 diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Manish Gutch

    2016-01-01

    Full Text Available Wolfram syndrome is a rare autosomal recessive disorder characterized by a constellation of disorders also known as diabetes insipidus, diabetes mellitus (DM, optic atrophy, and deafness. Patients present with DM and optic atrophy in the first decade, diabetes insipidus and sensorineural deafness in the second decade, and renal outflow tract anomalies and other neurological manifestations later in life. We report a case of a 14-year-old boy who was diagnosed with insulin-dependent DM and subsequently discovered to have optic atrophy, sensorineural hearing loss, and cardiovascular defect with a positive family history. Such cases need to be evaluated thoroughly with respect to Wolfram syndrome and its associated anomalies.

  8. 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…

  9. 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.…

  10. Mutations in a Novel Isoform of TRIOBP That Encodes a Filamentous-Actin Binding Protein Are Responsible for DFNB28 Recessive Nonsyndromic Hearing Loss

    Science.gov (United States)

    Shahin, Hashem; Walsh, Tom; Sobe, Tama; Abu Sa’ed, Judeh; Abu Rayan, Amal; Lynch, Eric D.; Lee, Ming K.; Avraham, Karen B.; King, Mary-Claire; Kanaan, Moein

    2006-01-01

    In a large consanguineous Palestinian kindred, we previously mapped DFNB28—a locus associated with recessively inherited, prelingual, profound sensorineural hearing impairment—to chromosome 22q13.1. We report here that mutations in a novel 218-kDa isoform of TRIOBP (TRIO and filamentous actin [F-actin] binding protein) are associated with DFNB28 hearing loss in a total of nine Palestinian families. Two nonsense mutations (R347X and Q581X) truncate the protein, and a potentially deleterious missense mutation (G1019R) occurs in a conserved motif in a putative SH3-binding domain. In seven families, 27 deaf individuals are homozygous for one of the nonsense mutations; in two other families, 3 deaf individuals are compound heterozygous for the two nonsense mutations or for Q581X and G1019R. The novel long isoform of TRIOBP has a restricted expression profile, including cochlea, retina, and fetal brain, whereas the original short isoform is widely expressed. Antibodies to TRIOBP reveal expression in sensory cells of the inner ear and colocalization with F-actin along the length of the stereocilia. PMID:16385458

  11. 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.

  12. Sudden sensorineural hearing loss in children: Etiology, management, and outcome.

    Science.gov (United States)

    Pitaro, Jacob; Bechor-Fellner, Avital; Gavriel, Haim; Marom, Tal; Eviatar, Ephraim

    2016-03-01

    Pediatric sudden sensorineural hearing loss (SSNHL) is uncommon, and the current guidelines for its management refer to adults. Our objective was to review cases of SSNHL in children and examine their etiologies, management, and outcome. We performed a retrospective chart review of all children under the age of 18 years treated for SSNHL between January 2003 and September 2014. Data recorded included age, gender, symptoms, onset of hearing loss, audiometric results, diagnostic studies, treatment, and outcome. Nineteen children were included. Mean age was 14 years (range 7-18 years). Male: female ratio was 9:10. Degree of hearing loss varied from mild to profound across the tested frequencies. Most common accompanying symptom was tinnitus. Serologic tests demonstrated recent Epstein-Barr virus infection in one patient and previous cytomegalovirus infection in six patients. Imaging studies included computed tomography scan (n=3) and/or magnetic resonance imaging (n=12). All imaging studies did not demonstrate any pathology. Treatment included systemic steroids in 19 (100%) children and intratympanic steroids in eight (42%). Hearing completely improved in three (16%) children, partially improved in nine (47%), and there was no improvement in six (32%). One child was lost to follow-up. Viral infection was a common finding in children with SSNHL and no pathological changes were demonstrated on imaging studies. In most patients (63%), hearing improvement was observed. Intratympanic steroid injection can benefit these children. Further studies are required to investigate the etiologies and establish guidelines for the management of SSNHL in children. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  13. Congenital malformations of the inner ear and the vestibulocochlear nerve in children with sensorineural hearing loss: evaluation with CT and MRI.

    Science.gov (United States)

    Westerhof, J P; Rademaker, J; Weber, B P; Becker, H

    2001-01-01

    The purpose of this work was to study the diagnostic value of CT and MRI in children with sensorineural hearing loss and to analyze anatomic abnormalities of the inner ear and the vestibulocochlear nerve in this patient group. We evaluated 42 inner ears in 21 children with congenital deafness who had congenital inner ear malformations and who were candidates for cochlear implants. All patients were studied with high resolution MR and helical CT examinations. The MR study included a T2-weighted 3D fast SE sequence. We describe and tabulate the anatomic abnormalities. Special attention was given to abnormalities of the vestibulocochlear nerve. The field of view in the plane according to the length axis of the internal auditory canal (IAC) was 4 cm. Additional continuous parasagittal reformations perpendicular to the length axis of the IAC were studied with a field of view of 3 cm. CT and MRI allowed accurate identification of malformations of the inner ear in children with congenital deafness. We identified 99 malformations, with a majority of patients demonstrating multiple abnormalities. Common imaging findings were Mondini abnormality and Mondini variants (12/42) and fusion of the lateral or superior semicircular canal with the vestibule (12/42). MRI demonstrated in 9 of 21 patients a rudimentary or absent vestibulocochlear nerve in the auditory canal. CT and MRI are important modalities to analyze the inner ear in children who are candidates for cochlear implants. MRI with an extremely small field of view should be used to study possible abnormalities of the vestibulocochlear nerves. This may alter clinical care and allow cochlear implant placement in patients whose electrodiagnostic studies suggest that the implant should not be performed. The detailed analysis of abnormalities of the inner ear might establish prognostic factors.

  14. 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

  15. 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

  16. Endocochlear potential depends on Cl− channels: mechanism underlying deafness in Bartter syndrome IV

    Science.gov (United States)

    Rickheit, Gesa; Maier, Hannes; Strenzke, Nicola; Andreescu, Corina E; De Zeeuw, Chris I; Muenscher, Adrian; Zdebik, Anselm A; Jentsch, Thomas J

    2008-01-01

    Human Bartter syndrome IV is an autosomal recessive disorder characterized by congenital deafness and severe renal salt and fluid loss. It is caused by mutations in BSND, which encodes barttin, a β-subunit of ClC-Ka and ClC-Kb chloride channels. Inner-ear-specific disruption of Bsnd in mice now reveals that the positive potential, but not the high potassium concentration, of the scala media depends on the presence of these channels in the epithelium of the stria vascularis. The reduced driving force for K+-entry through mechanosensitive channels into sensory hair cells entails a profound congenital hearing loss and subtle vestibular symptoms. Although retaining all cell types and intact tight junctions, the thickness of the stria is reduced early on. Cochlear outer hair cells degenerate over several months. A collapse of endolymphatic space was seen when mice had additionally renal salt and fluid loss due to partial barttin deletion in the kidney. Bsnd−/− mice thus demonstrate a novel function of Cl− channels in generating the endocochlear potential and reveal the mechanism leading to deafness in human Bartter syndrome IV. PMID:18833191

  17. 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…

  18. Sensorineural hearing loss after magnetic resonance imaging

    DEFF Research Database (Denmark)

    Mollasadeghi, Abolfazl; Mehrparvar, Amir Houshang; Atighechi, Saeid

    2013-01-01

    Magnetic resonance imaging (MRI) devices produce noise, which may affect patient's or operators' hearing. Some cases of hearing impairment after MRI procedure have been reported with different patterns (temporary or permanent, unilateral or bilateral, with or without other symptoms like tinnitus......). In this report, a case of bilateral sensorineural hearing loss in an otherwise healthy patient underwent brain MRI was described. The patient's hearing loss was accompanied with tinnitus and was not improved after 3 months of followup....

  19. 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...

  20. 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.

  1. 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…

  2. 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.

  3. USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.

    Science.gov (United States)

    Ahmed, Z M; Riazuddin, S; Khan, S N; Friedman, P L; Riazuddin, S; Friedman, T B

    2009-01-01

    Usher syndrome (USH) is a hereditary disorder associated with sensorineural hearing impairment, progressive loss of vision attributable to retinitis pigmentosa (RP) and variable vestibular function. Three clinical types have been described with type I (USH1) being the most severe. To date, six USH1 loci have been reported. We ascertained two large Pakistani consanguineous families segregating profound hearing loss, vestibular dysfunction, and RP, the defining features of USH1. In these families, we excluded linkage of USH to the 11 known USH loci and subsequently performed a genome-wide linkage screen. We found a novel USH1 locus designated USH1H that mapped to chromosome 15q22-23 in a 4.92-cM interval. This locus overlaps the non-syndromic deafness locus DFNB48 raising the possibility that the two disorders may be caused by allelic mutations.

  4. Sensorineural hearing loss associated with occupational noise exposure: effects of age-corrections.

    Science.gov (United States)

    Krishnamurti, Sridhar

    2009-03-01

    Noise-induced permanent threshold shifts (NIPTS) were computed from retrospective audiometric analyses by subtracting aging effects on hearing sensitivity in sixty-eight patients with bilateral sensorineural hearing loss who reported significant occupational noise exposure histories. There were significant effects of age on NIPTS but no significant gender- or ear- differences in terms of NIPTS. The NIPTS at 2,000 Hz was found to be significantly greater than NIPTS at frequencies 500 Hz, 1,000 Hz, 4,000 Hz, and 8,000 Hz. Defined noise notches were seen in the audiograms of 38/136 (27%) ears with SNHL. Results support models that suggest interactive effects of aging and noise on sensorineural hearing loss in ears with occupational noise exposure.

  5. 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.

  6. 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

  7. 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…

  8. 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.…

  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. 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.

  11. 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…

  12. Sensorineural Hearing Loss after Magnetic Resonance Imaging

    Directory of Open Access Journals (Sweden)

    Abolfazl Mollasadeghi

    2013-01-01

    Full Text Available Magnetic resonance imaging (MRI devices produce noise, which may affect patient’s or operators’ hearing. Some cases of hearing impairment after MRI procedure have been reported with different patterns (temporary or permanent, unilateral or bilateral, with or without other symptoms like tinnitus. In this report, a case of bilateral sensorineural hearing loss in an otherwise healthy patient underwent brain MRI was described. The patient’s hearing loss was accompanied with tinnitus and was not improved after 3 months of followup.

  13. Mobile phone induced sensorineural hearing loss

    International Nuclear Information System (INIS)

    Al-Dousary, Surayie H.

    2007-01-01

    The increased use of mobile phones worldwide has focused interest on the biological effects and possible health outcomes of exposure to radiofrequency fields from mobile phones, and their base stations. Various reports suggest that mobile phone use can cause health problems like fatigue, headache, dizziness, tension and sleep disturbances, however, only limited research data is available in medical literature regarding interaction between electromagnetic fields emitted by mobile phones and auditory function and the possible impact on hearing. We report a case of sensorineural hearing loss due to Global System for Mobile Communication mobile phone use in a 42-year-old male. (author)

  14. [Effect of rehabilitation for prelingual deaf children who use cochlear implants in conjunction with hearing aids in the opposite ears].

    Science.gov (United States)

    Tian, Yanjing; Zhou, Huifang; Zhang, Jing; Yang, Dong; Xu, Yi; Guo, Yuxi

    2012-10-01

    To compare the effect of rehabilitation of prelingual deaf children who used a cochlear implant (CI) in one ear and a hearing aids in the opposite ear while the hearing level of the opposite ears are different. Hearing ability, language ability and learning ability was included in the content. The aim of this research is to investigate better style of rehabilitation, and to offer the best help to the prelingual deaf children. Accord ing to the hearing level of the ear opposite to the one wearing a cochlear implant and whether the opposite ear wear a hearing aid or not, 30 prelingual deaf children were divided into three groups, including cochlear implant with opposite severe hearing loss and hearing aid ear (CI+SHA), cochlear implant with opposite profound hearing loss and hearing aid ear (CI+PHA), cochlear implant only (CI). The effect of rehabilitation was assessed in six different times (3,6,9,12,15 and 18 months after the cochlear implants and hearing aids began to work). The longer time the rehabilitation spends, the better the hearing ability,language ability and the learning ability were. The hearing ability of CI+SHA was better than those of CI+PHA (Pdeaf children should take much more time on rehabilitation. The effect of rehabilitation for prelingual deaf children who used cochlear implant in one ear and hearing aid in the other depend on the residual hearing level of the other ear. If a prelingual deaf children still has any residual hearing level in the ear opposite to the cochlear implant ear, it is better for him/her to wear a hearing aid in the ear.

  15. 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.…

  16. 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…

  17. Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss.

    Science.gov (United States)

    Umrigar, Ayesha; Musso, Amanda; Mercer, Danielle; Hurley, Annette; Glausier, Cassondra; Bakeer, Mona; Marble, Michael; Hicks, Chindo; Tsien, Fern

    2017-01-01

    Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families. Next-generation sequencing and diagnostic panels have become increasingly reliable and less expensive for clinical use. Despite these developments, the diagnosis of genetic sensorineural hearing loss still presents challenges for healthcare providers. Inherited sensorineural hearing loss has high levels of genetic heterogeneity and variable expressivity. Additionally, syndromic hearing loss (hearing loss and additional clinical abnormalities) should be distinguished from non-syndromic (hearing loss is the only clinical symptom). Although the diagnosis of genetic sensorineural hearing loss can be challenging, the patient's family history and ethnicity may provide critical information, as certain genetic mutations are more common in specific ethnic populations. The early identification of the cause of deafness can benefit patients and their families by estimating recurrence risks for future family planning and offering the proper interventions to improve their quality of life. Collaboration between pediatricians, audiologists, otolaryngologists, geneticists, and other specialists are essential in the diagnosis and management of patients with hearing disorders. An early diagnosis is vital for proper management and care, as some clinical manifestations of syndromic sensorineural hearing loss are not apparent at birth and have a delayed age of onset. We present a case of Usher syndrome (congenital deafness and childhood-onset blindness) illustrating the challenges encountered in the diagnosis and management of children presenting with congenital genetic sensorineural hearing loss, along with helpful resources for clinicians and families.

  18. 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

  19. Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.

    Science.gov (United States)

    Sun, Lianhua; Li, Xiaohua; Shi, Jun; Pang, Xiuhong; Hu, Yechen; Wang, Xiaowen; Wu, Hao; Yang, Tao

    2016-10-19

    Waardenburg syndrome (WS) characterized by sensorineural hearing loss and pigmentary abnormalities is genetically heterogeneous and phenotypically variable. This study investigated the molecular etiology and genotype-phenotype correlation of WS in 36 Chinese Han deaf probands and 16 additional family members that were clinically diagnosed with WS type I (WS1, n = 8) and type II (WS2, n = 42). Mutation screening of six WS-associated genes detected PAX3 mutations in 6 (86%) of the 7 WS1 probands. Among the 29 WS2 probands, 13 (45%) and 10 (34%) were identified with SOX10 and MITF mutations, respectively. Nineteen of the 26 detected mutations were novel. In WS2 probands whose parental DNA samples were available, de novo mutations were frequently seen for SOX10 mutations (7/8) but not for MITF mutations (0/5, P = 0.005). Excessive freckle, a common feature of WS2 in Chinese Hans, was frequent in WS2 probands with MITF mutations (7/10) but not in those with SOX10 mutations (0/13, P = 4.9 × 10 -4 ). Our results showed that mutations in SOX10 and MITF are two major causes for deafness associated with WS2. These two subtypes of WS2 can be distinguished by the high de novo rate of the SOX10 mutations and the excessive freckle phenotype exclusively associated with the MITF mutations.

  20. Sensorineural Hearing Loss Associated with Occupational Noise Exposure: Effects of Age-Corrections

    Directory of Open Access Journals (Sweden)

    2009-02-01

    Full Text Available Noise-induced permanent threshold shifts (NIPTS were computed from retrospective audiometric analyses by subtracting aging effects on hearing sensitivity in sixty-eight patients with bilateral sensorineural hearing loss who reported significant occupational noise exposure histories. There were significant effects of age on NIPTS but no significant gender- or ear- differences in terms of NIPTS. The NIPTS at 2,000 Hz was found to be significantly greater than NIPTS at frequencies 500 Hz, 1,000 Hz, 4,000 Hz, and 8,000 Hz. Defined noise notches were seen in the audiograms of 38/136 (27% ears with SNHL. Results support models that suggest interactive effects of aging and noise on sensorineural hearing loss in ears with occupational noise exposure.

  1. 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

  2. Comparing the Prevalence of Handedness between Normal and Congenitally Deaf Students in Age Intervals of 12 to 18 Years in Tehran

    Directory of Open Access Journals (Sweden)

    Zahra Jafari

    2007-04-01

    Full Text Available Objective: Handedness is the most prominent behavioral asymmetry in human. The term of hand preference points to prefer hand or functional asymmetry in manual tasks. The items were considered in this study were: the comparison of handedness between normal and congenitally deaf students the effects of age, sex, and pressure on using right hand for unimanual tasks on handedness the frequency of left-handers among student’s families, the influence of hand preference on English language capabilities, and the point of view of people rather to left-handers have been investigated. Materials & Methods: This cross-sectional comparative study was conducted on 760 students including 380 normal students and 380 deaf students with congenital severe or profound sensory-neural hearing loss from 12 to 18 years of age by that were selected purposefully, completing Edinburg handedness inventory in Tehran. The students didn’t have any confirmed diseases or neurological disorders, except hearing loss in deaf student. Data were gathered through the completion of the Edinburg Handedness Inventory by the students. The student’s aural records and also the confirmation of the audiologist in the deaf schools were considered in order to determine the kind and degree of hearing loss. Results: The prevalence of left-handedness among normal (9.7% and deaf (10.3% students were near to each other, and there was no significant difference between them (P=0.901, z=-1.24. The prevalence of left-handedness was higher in boys rather than girls, but there was no significant influence of sex and age on results (P>0.05. The family and/or teacher pressure for using right hand was 16.0% in normal students and 5.0% in deaf students, and they didn’t report any strict pressure or severity regard this mater. The frequency of left-handers was higher among family of normal students (22.6% than deaf students (13.2%, and the difference between them was significant statistically (P=0

  3. Speech recognition in individuals with sensorineural hearing loss

    Directory of Open Access Journals (Sweden)

    Adriana Neves de Andrade

    Full Text Available ABSTRACT INTRODUCTION: Hearing loss can negatively influence the communication performance of individuals, who should be evaluated with suitable material and in situations of listening close to those found in everyday life. OBJECTIVE: To analyze and compare the performance of patients with mild-to-moderate sensorineural hearing loss in speech recognition tests carried out in silence and with noise, according to the variables ear (right and left and type of stimulus presentation. METHODS: The study included 19 right-handed individuals with mild-to-moderate symmetrical bilateral sensorineural hearing loss, submitted to the speech recognition test with words in different modalities and speech test with white noise and pictures. RESULTS: There was no significant difference between right and left ears in any of the tests. The mean number of correct responses in the speech recognition test with pictures, live voice, and recorded monosyllables was 97.1%, 85.9%, and 76.1%, respectively, whereas after the introduction of noise, the performance decreased to 72.6% accuracy. CONCLUSIONS: The best performances in the Speech Recognition Percentage Index were obtained using monosyllabic stimuli, represented by pictures presented in silence, with no significant differences between the right and left ears. After the introduction of competitive noise, there was a decrease in individuals' performance.

  4. 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.

  5. 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.

  6. Molecular Etiology of Hereditary Single-Side Deafness: Its Association With Pigmentary Disorders and Waardenburg Syndrome.

    Science.gov (United States)

    Kim, Shin Hye; Kim, Ah Reum; Choi, Hyun Seok; Kim, Min Young; Chun, Eun Hi; Oh, Seung-Ha; Choi, Byung Yoon

    2015-10-01

    Unilateral sensorineural hearing loss (USNHL)/single-side deafness (SSD) is a frequently encountered disability in children. The etiology of a substantial portion of USNHL/SSD still remains unknown, and genetic causes have not been clearly elucidated. In this study, the authors evaluated the heritability of USNHL/SSD.The authors sequentially recruited 50 unrelated children with SSD. For an etiologic diagnosis, we performed a rigorous review on the phenotypes of family members of all children and conducted, if necessary, molecular genetic tests including targeted exome sequencing of 129 deafness genes.Among the 50 SSD children cohort, the authors identify 4 (8%) unrelated SSD probands from 4 families (SH136, SB173, SB177, and SB199) with another hearing impaired family members. Notably, all 4 probands in our cohort with a familial history of SSD also have pigmentary abnormalities such as brown freckles or premature gray hair within first degree relatives, which may indicate that genes whose products are involved with pigmentary disorder could be candidates for heritable SSD. Indeed, SH136 and SB199 turned out to segregate a mutation in MITF and PAX3, respectively, leading to a molecular diagnosis of Waardenburg syndrome (WS).We report, for the first time in the literature, a significant heritability of pediatric SSD. There is a strong association between the heritability of USNHL/SSD and the pigmentary abnormality, shedding a new light on the understanding of the molecular basis of heritable USNHL/SSD. In case of children with congenital SSD, it would be mandatory to rigorously screen pigmentary abnormalities. WS should also be included in the differential diagnosis of children with USNHL/SSD, especially in a familial form.

  7. 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.…

  8. 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...

  9. 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.

  10. A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.

    Science.gov (United States)

    Raas-Rothschild, Annick; Wanders, Ronald J A; Mooijer, Petra A W; Gootjes, Jeannette; Waterham, Hans R; Gutman, Alisa; Suzuki, Yasuyuki; Shimozawa, Nobuyuki; Kondo, Naomi; Eshel, Gideon; Espeel, Marc; Roels, Frank; Korman, Stanley H

    2002-04-01

    Sensorineural deafness and retinitis pigmentosa (RP) are the hallmarks of Usher syndrome (USH) but are also prominent features in peroxisomal biogenesis defects (PBDs); both are autosomal recessively inherited. The firstborn son of unrelated parents, who both had sensorineural deafness and RP diagnosed as USH, presented with sensorineural deafness, RP, dysmorphism, developmental delay, hepatomegaly, and hypsarrhythmia and died at age 17 mo. The infant was shown to have a PBD, on the basis of elevated plasma levels of very-long- and branched-chain fatty acids (VLCFAs and BCFAs), deficiency of multiple peroxisomal functions in fibroblasts, and complete absence of peroxisomes in fibroblasts and liver. Surprisingly, both parents had elevated plasma levels of VLCFAs and BCFAs. Fibroblast studies confirmed that both parents had a PBD. The parents' milder phenotypes correlated with relatively mild peroxisomal biochemical dysfunction and with catalase immunofluorescence microscopy demonstrating mosaicism and temperature sensitivity in fibroblasts. The infant and both of his parents belonged to complementation group C. PEX6 gene sequencing revealed mutations on both alleles, in the infant and in his parents. This unique family is the first report of a PBD with which the parents are themselves affected individuals rather than asymptomatic carriers. Because of considerable overlap between USH and milder PBD phenotypes, individuals suspected to have USH should be screened for peroxisomal dysfunction.

  11. Coronary artery bypass grafting and sensorineural hearing loss, a cohort study

    Directory of Open Access Journals (Sweden)

    Ashraf Omer

    2005-12-01

    Full Text Available Abstract Background Sudden sensorineural hearing loss is routinely encountered by the otologist. The etiology is varied and often identifiable. One of the relatively less frequent causes is surgery. Apart from being an established entity with otological surgeries, sensorineural hearing loss has also been known to occur after non-otological procedures under general anesthesia. Commonest amongst these procedures is cardiopulmonary bypass, an association that has long been recognized. However, despite the proposition of diverse hypotheses in the past, the pathophysiology remains unclear. Methods The study is a prospective matched cohort study that will be carried out in Aga Khan University Hospital, Karachi, Pakistan. Participants among exposed would include all those patients who would be undergoing coronary artery bypass surgery in the hospital who fall under the criteria for inclusion. Unexposed group would comprise of patients undergoing a non-bypass procedure of similar duration under the same type of anesthesia who meet the selection criteria. Both these groups will undergo audiometric testing at our hospital on three different occasions during the course of this study. Initially before the procedure to test the baseline hearing capacity; then one week after the procedure to assess any changes in hearing ability following the surgery; and finally a third audiogram at six weeks follow-up to assess further changes in any hearing deficits noted during the second phase of testing. Certain variables including the subjects' demographics and those concerning the procedure itself will be noted and used later for risk factors analysis. A detailed past medical and surgical history will also be obtained. Data analysis would include calculation of relative risk and significance of the results, by running the chi-square test. Other statistical tests like Fisher exact test may then be employed to facilitate data interpretation. Continuous scale may then be

  12. 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.

  13. 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…

  14. 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…

  15. Deafness and permanently reduced potassium channel gene expression and function in hypothyroid Pit1dw mutants

    Science.gov (United States)

    Mustapha, Mirna; Fang, Qing; Gong, Tzy-Wen; Dolan, David F.; Raphael, Yehoash; Camper, Sally A.; Duncan, R. Keith

    2012-01-01

    The absence of thyroid hormone (TH) during late gestation and early infancy can cause irreparable deafness in both humans and rodents. A variety of rodent models have been utilized in an effort to identify the underlying molecular mechanism. Here, we characterize a mouse model of secondary hypothyroidism, pituitary transcription factor 1 (Pit1dw), which has profound, congenital deafness that is rescued by oral TH replacement. These mutants have tectorial membrane abnormalities, including a prominent Hensen's stripe, elevated β-tectorin composition, and disrupted striated-sheet matrix. They lack distortion product otoacoustic emissions and cochlear microphonic responses, and exhibit reduced endocochlear potentials, suggesting defects in outer hair cell function and potassium recycling. Auditory system and hair cell physiology, histology and anatomy studies reveal novel defects of hormone deficiency related to deafness: (1) permanently impaired expression of KCNJ10 in the stria vascularis of Pit1dw mice, which likely contributes to the reduced endocochlear potential, (2) significant outer hair cell loss in the mutants, which may result from cellular stress induced by the lower KCNQ4 expression and current levels in Pit1dw mutant outer hair cells and (3) sensory and strial cell deterioration, which may have implications for thyroid hormone dysregulation in age related hearing impairment. In summary, we suggest that these defects in outer hair cell and strial cell function are important contributors to the hearing impairment in Pit1dw mice. PMID:19176829

  16. 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.

  17. 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.

  18. 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

  19. Acquired word deafness, and the temporal grain of sound representation in the primary auditory cortex.

    Science.gov (United States)

    Phillips, D P; Farmer, M E

    1990-11-15

    This paper explores the nature of the processing disorder which underlies the speech discrimination deficit in the syndrome of acquired word deafness following from pathology to the primary auditory cortex. A critical examination of the evidence on this disorder revealed the following. First, the most profound forms of the condition are expressed not only in an isolation of the cerebral linguistic processor from auditory input, but in a failure of even the perceptual elaboration of the relevant sounds. Second, in agreement with earlier studies, we conclude that the perceptual dimension disturbed in word deafness is a temporal one. We argue, however, that it is not a generalized disorder of auditory temporal processing, but one which is largely restricted to the processing of sounds with temporal content in the milliseconds to tens-of-milliseconds time frame. The perceptual elaboration of sounds with temporal content outside that range, in either direction, may survive the disorder. Third, we present neurophysiological evidence that the primary auditory cortex has a special role in the representation of auditory events in that time frame, but not in the representation of auditory events with temporal grains outside that range.

  20. 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.

  1. Acoustic reflex measurements and the loudness function in sensorineural hearing loss

    Directory of Open Access Journals (Sweden)

    Sheila Uliel

    1980-11-01

    Full Text Available The suprathreshold acoustic reflex responses of forty two ears affected by sensorineural hearing loss of cochlear origin and fifty-eight ears demonstrating normal hearing, were recorded by means of an electro-acoustic impedance meter and attached X-Y recorder. The recordings were done in ascending and descending fashion,  at successively increasing and decreasing 5dB intensity levels from 90-120-90 dB HL respectively, for the individual pure-tone frequencies of 500, 1 000, 2 000 and 4 000 Hz. The contralateral mode of measurement was employed. Analysis of  these recordings indicated that the acoustic reflex  responses could be differentiated into five  characteristic patterns of  growth, which could be depicted upon a continuum of peaked, peaked-rounded, rounded, rounded-flat,  and flat  shapes. The peaked and peaked-rounded patterns were found  to predominate at all four pure-tone frequencies  in the normal ears, while the rounded-fiat  and flat  patterns were found  to predominate only at the higher pure-tone frequencies of 2 000 and 4 000 Hz in the ears affected  by sensorineural hearing loss. This latter relationship was also able to be applied to two disorders of  the loudness functio— loudness recruitment and hyperacusis. It was concluded that the flattened  acoustic reflex  patterns at the higher pure-tone frequencies  constituted a potential diagnostic cue related to the differential  diagnosis of sensorineural hearing loss, and to disorders of  the loudness function.

  2. 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…

  3. 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

  4. 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…

  5. 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.

  6. 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

  7. [Subclinical sensorineural hearing loss in female patients with rheumatoid arthritis].

    Science.gov (United States)

    Treviño-González, José Luis; Villegas-González, Mario Jesús; Muñoz-Maldonado, Gerardo Enrique; Montero-Cantu, Carlos Alberto; Nava-Zavala, Arnulfo Hernán; Garza-Elizondo, Mario Alberto

    2015-01-01

    The rheumatoid arthritis is a clinical entity capable to cause hearing impairment that can be diagnosed promptly with high frequencies audiometry. To detect subclinical sensorineural hearing loss in patients with rheumatoid arthritis. Cross-sectional study on patients with rheumatoid arthritis performing high frequency audiometry 125Hz to 16,000Hz and tympanometry. The results were correlated with markers of disease activity and response to therapy. High frequency audiometry was performed in 117 female patients aged from 19 to 65 years. Sensorineural hearing loss was observed at a sensitivity of pure tones from 125 to 8,000 Hz in 43.59%, a tone threshold of 10,000 to 16,000Hz in 94.02% patients in the right ear and in 95.73% in the left ear. Hearing was normal in 8 (6.84%) patients. Hearing loss was observed in 109 (93.16%), and was asymmetric in 36 (30.77%), symmetric in 73 (62.37%), bilateral in 107 (91.45%), unilateral in 2 (1.71%), and no conduction and/or mixed hearing loss was encountered. Eight (6.83%) patients presented vertigo, 24 (20.51%) tinnitus. Tympanogram type A presented in 88.90% in the right ear and 91.46% in the left ear, with 5.98 to 10.25% type As. Stapedius reflex was present in 75.3 to 85.2%. Speech discrimination in the left ear was significantly different (p = 0.02)in the group older than 50 years. No association was found regarding markers of disease activity, but there was an association with the onset of rheumatoid arthritis disease. Patients with rheumatoid arthritis had a high prevalence of sensorineural hearing loss for high and very high frequencies. Copyright © 2015 Academia Mexicana de Cirugía A.C. Published by Masson Doyma México S.A. All rights reserved.

  8. Cockayne syndrome

    DEFF Research Database (Denmark)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties...

  9. Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations : A case report and review of the literature

    NARCIS (Netherlands)

    Verheij, Johanna B G M; Sival, Deborah A; van der Hoeven, Johannes H; Vos, Yvonne J; Meiners, Linda C; Brouwer, Oebele F; van Essen, Anthonie J

    Shah-Waardenburg syndrome is a rare congenital disorder with variable clinical expression, characterised by aganglionosis of the rectosigmoid (Hirschsprung disease), and abnormal melanocyte migration, resulting in pigmentary abnormalities and sensorineural deafness (Waardenburg syndrome). Mutations

  10. Hearing loss

    Science.gov (United States)

    Decreased hearing; Deafness; Loss of hearing; Conductive hearing loss; Sensorineural hearing loss; Presbycusis ... Symptoms of hearing loss may include: Certain sounds seeming too loud Difficulty following conversations when two or more people are talking ...

  11. 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.

  12. 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...

  13. 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.

  14. 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.

  15. [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.

  16. Investigation of the vestibular aqueduct and the cochlear aqueduct by temboral bone CT scan

    International Nuclear Information System (INIS)

    Shimizu, Ryuichi; Kamei, Tamio; Ito, Fumihide

    1984-01-01

    The visualization of the vestibular aqueduct and the cochlear aqueduct was investigated by temporal bone CT scan. The vestibular aqueduct was visualized in horizontal CT sections of 70.0% of normal ears, 61.5% of ears with chronic otitis media, 58.3% of ears with combined hearing impairment, 66.7% of ears in cases of sudden deafness, 70.8% of ears of patients with sensorineural hearing impairment without sudden deafness, 71.4% of cases of vertigo without hearing impairment and 12.5% of both diseased and contralateral ears of patients with Meniere's disease. Only in Meniere's disease was the vestibular aqueduct less visible in the diseased than in the normal ear (P<0.01). The cochlear aqueduct was visible in coronal sections of 50.0% of normal ears, 76.9% of those with chronic otitis media, 58.3% of those with combined hearing impairment, 66.7% of those with sudden deafness 41.7% of those with sensorineural hearing impairment without sudden deafness, 50.0% of the diseased ears of patients with Meniere's disease, 37.5% of the contralateral ears of those with Meniere's disease and 64.3% of those with vertigo without hearing impairment. Although the cochlear aqueduct was thus highly demonstrable in patients with chronic otitis media or sudden deafness, the difference between the percentage of visualization in these diseased and in normal ears was not statistically significant. (author)

  17. 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!

  18. Speech recognition in individuals with sensorineural hearing loss.

    Science.gov (United States)

    de Andrade, Adriana Neves; Iorio, Maria Cecilia Martinelli; Gil, Daniela

    2016-01-01

    Hearing loss can negatively influence the communication performance of individuals, who should be evaluated with suitable material and in situations of listening close to those found in everyday life. To analyze and compare the performance of patients with mild-to-moderate sensorineural hearing loss in speech recognition tests carried out in silence and with noise, according to the variables ear (right and left) and type of stimulus presentation. The study included 19 right-handed individuals with mild-to-moderate symmetrical bilateral sensorineural hearing loss, submitted to the speech recognition test with words in different modalities and speech test with white noise and pictures. There was no significant difference between right and left ears in any of the tests. The mean number of correct responses in the speech recognition test with pictures, live voice, and recorded monosyllables was 97.1%, 85.9%, and 76.1%, respectively, whereas after the introduction of noise, the performance decreased to 72.6% accuracy. The best performances in the Speech Recognition Percentage Index were obtained using monosyllabic stimuli, represented by pictures presented in silence, with no significant differences between the right and left ears. After the introduction of competitive noise, there was a decrease in individuals' performance. Copyright © 2015 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  19. Genetic Correction of Induced Pluripotent Stem Cells From a Deaf Patient With MYO7A Mutation Results in Morphologic and Functional Recovery of the Derived Hair Cell-Like Cells.

    Science.gov (United States)

    Tang, Zi-Hua; Chen, Jia-Rong; Zheng, Jing; Shi, Hao-Song; Ding, Jie; Qian, Xiao-Dan; Zhang, Cui; Chen, Jian-Ling; Wang, Cui-Cui; Li, Liang; Chen, Jun-Zhen; Yin, Shan-Kai; Huang, Tao-Sheng; Chen, Ping; Guan, Min-Xin; Wang, Jin-Fu

    2016-05-01

    The genetic correction of induced pluripotent stem cells (iPSCs) induced from somatic cells of patients with sensorineural hearing loss (caused by hereditary factors) is a promising method for its treatment. The correction of gene mutations in iPSCs could restore the normal function of cells and provide a rich source of cells for transplantation. In the present study, iPSCs were generated from a deaf patient with compound heterozygous MYO7A mutations (c.1184G>A and c.4118C>T; P-iPSCs), the asymptomatic father of the patient (MYO7A c.1184G>A mutation; CF-iPSCs), and a normal donor (MYO7A(WT/WT); C-iPSCs). One of MYO7A mutation sites (c.4118C>T) in the P-iPSCs was corrected using CRISPR/Cas9. The corrected iPSCs (CP-iPSCs) retained cell pluripotency and normal karyotypes. Hair cell-like cells induced from CP-iPSCs showed restored organization of stereocilia-like protrusions; moreover, the electrophysiological function of these cells was similar to that of cells induced from C-iPSCs and CF-iPSCs. These results might facilitate the development of iPSC-based gene therapy for genetic disorders. Induced pluripotent stem cells (iPSCs) were generated from a deaf patient with compound heterozygous MYO7A mutations (c.1184G>A and c.4118C>T). One of the MYO7A mutation sites (c.4118C>T) in the iPSCs was corrected using CRISPR/Cas9. The genetic correction of MYO7A mutation resulted in morphologic and functional recovery of hair cell-like cells derived from iPSCs. These findings confirm the hypothesis that MYO7A plays an important role in the assembly of stereocilia into stereociliary bundles. Thus, the present study might provide further insight into the pathogenesis of sensorineural hearing loss and facilitate the development of therapeutic strategies against monogenic disease through the genetic repair of patient-specific iPSCs. ©AlphaMed Press.

  20. 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…

  1. Ampleness of head movements of children and adolescents with sensorineural hearing loss.

    Science.gov (United States)

    de Souza Melo, Renato

    2017-02-01

    Head movements are controlled by the vestibular system. Children with sensorineural hearing loss can present restrictions in ampleness of head movements due to damage in the vestibule-cochlear systems, resulting from injury in the inner ear. To evaluate the ampleness of head movements of children with normal hearing and children with sensorineural hearing loss and compare data between groups. Cross-sectional study that evaluated the ampleness of head movements of 96 students, being 48 with normal hearing and 48 with sensorineural hearing loss, of both sexes, with aged between 7 and 18 years old. The performance of ampleness of head movements was analyzed by a manual goniometric evaluation, according the references proposed by Marques. To the statistical analysis we used the t-Student test in case of normality of the data or the Mann-Whitney test when did not applied the suppositions of normality. Hearing loss children showed less mean in ampleness of all movements of head compared to normal hearing children, pointing difference to movements of flexion (p = 0,001), lateral inclination to the right (p = 0,025) and lateral rotation to the left (p = 0,021). Hearing loss children showed reduction in the ampleness of these head movements: flexion, lateral inclination to the right and lateral rotation to the left compared to normal hearing children. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  2. 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,…

  3. Brown–Vialetto–Van Laere syndrome: Egyptian case report ...

    African Journals Online (AJOL)

    year-old girl with progressive hearing loss was documented by brainstem auditory evoked potentials (BAEP) as sensorineural deafness, bilateral facial palsy and bilateral partial vocal cord paralysis in the paramedian position. There was no ...

  4. 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.

  5. Secondary superficial siderosis of the central nervous system in a patient presenting with sensorineural hearing loss

    International Nuclear Information System (INIS)

    Lemmerling, M.; De Praeter, G.; Mollet, P.; Mortele, K.; Kunnen, M.; Mastenbroek, G.

    1998-01-01

    We present a 50-year-old man who was investigated for sensorineural hearing loss. On MRI of the brain superficial siderosis of the central nervous system was seen, while MRI of the spine revealed an ependymoma of the cauda equina. This case illustrates the importance of performing T2-weighted imaging of the brain and posterior fossa when sensorineural hearing loss is present. Spine imaging is mandatory when superficial siderosis of the brain is diagnosed without identification of a bleeding source in the brain. (orig.)

  6. 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…

  7. 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.

  8. The management of children with Down syndrome and profound hearing loss.

    Science.gov (United States)

    Phelan, E; Pal, R; Henderson, L; Green, K M J; Bruce, I A

    2016-01-01

    Although, the association between Down syndrome (DS) and conductive hearing loss is well recognized, the fact that a small proportion of these children may have a severe to profound sensorineural hearing loss that could benefit from cochlear implantation (CI) is less well understood. The management of significant co-morbidities in children with DS can delay initial diagnosis of hearing impairment and assessment of suitability for CI can likewise be challenging, due to difficulties conditioning to behavioural hearing tests. We performed a retrospective case note review of three children with DS referred to the Manchester Cochlear Implant Programme. Three illustrative cases are described including CI in a 4 years old. Using conventional outcome measurement instruments, the outcome could be considered to be suboptimal with a Categories of Auditory Performance score of 4 at 6 months post-op and at last follow up. In part, this is likely to reflect the delay in implantation, but the role of cognitive impairment must be considered. The cases described emphasize the importance of comprehensive radiological and audiological assessment in children with DS being considered for CI. The influence of cognitive impairment upon outcome of CI must be taken into account, but should not be considered a contra-indication to implantation in children with DS. Benefit that might be considered limited when quantified using existing general outcome measurement instruments, may have a significant impact upon psychosocial development and quality of life in children with significant cognitive impairment, or other additional needs.

  9. 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...

  10. 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.

  11. 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

  12. 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

  13. 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…

  14. Cochlear implantation in children and adults in Switzerland.

    Science.gov (United States)

    Brand, Yves; Senn, Pascal; Kompis, Martin; Dillier, Norbert; Allum, John H J

    2014-02-04

    The cochlear implant (CI) is one of the most successful neural prostheses developed to date. It offers artificial hearing to individuals with profound sensorineural hearing loss and with insufficient benefit from conventional hearing aids. The first implants available some 30 years ago provided a limited sensation of sound. The benefit for users of these early systems was mostly a facilitation of lip-reading based communication rather than an understanding of speech. Considerable progress has been made since then. Modern, multichannel implant systems feature complex speech processing strategies, high stimulation rates and multiple sites of stimulation in the cochlea. Equipped with such a state-of-the-art system, the majority of recipients today can communicate orally without visual cues and can even use the telephone. The impact of CIs on deaf individuals and on the deaf community has thus been exceptional. To date, more than 300,000 patients worldwide have received CIs. In Switzerland, the first implantation was performed in 1977 and, as of 2012, over 2,000 systems have been implanted with a current rate of around 150 CIs per year. The primary purpose of this article is to provide a contemporary overview of cochlear implantation, emphasising the situation in Switzerland.

  15. Image analysis of the inner ear with CT and MR imaging

    International Nuclear Information System (INIS)

    Kumakawa, Kohzoh; Takeda, Hidehiko; Mutoh, Naoko; Miyakawa, Kohichi; Yukawa, Kumiko; Funasaka, Sohtaro.

    1992-01-01

    Recent progress in magnetic resonance imaging (MRI) has made it possible to obtain detailed images of the inner ear by delineating the lymphatic fluid within the labyrinth. We analyzed CT scans and MR imaging in 70 ears manifesting profound deafness owing to inner ear lesions and compared their detective ability for inner ear lesions. The following results were obtained. CT scan examination showed slight to extensive ossification of the labyrinth in six ears (9%), whereas MRI examination revealed low to absent signal intensity of the inner ear in nine ears (13%). Therefore, it was concluded that MRI is more sensitive in detecting abnormalities of the inner ear than CT scan. MRI provided useful information as to whether the cochlear turn is filled with lymphatic fluid or obstructed. This point was one of the greatest advantages of MRI over CT scan. Abnormal findings in either or both the CT scan and the MRI were detected in suppurative labyrinthitis occurring secondary to chronic otitis media, bacterial meningitis and in inner ear trauma. However, such abnormal findings were not detected in patients with idiopathic progressive sensorineural hearing loss, ototoxity or sudden deafness. These findings should be taken into consideration in pre-operative assessment of cochlear implant candidates. (author)

  16. A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.

    Science.gov (United States)

    Mustapha, Mirna; Chouery, Eliane; Torchard-Pagnez, Delphine; Nouaille, Sylvie; Khrais, Awni; Sayegh, Fouad N; Mégarbané, André; Loiselet, Jacques; Lathrop, Mark; Petit, Christine; Weil, Dominique

    2002-04-01

    Usher syndrome (USH) is an autosomal recessive disorder associated with sensorineural hearing impairment and progressive visual loss attributable to retinitis pigmentosa. This syndrome is both clinically and genetically heterogeneous. Three clinical types have been described of which type I (USH1) is the most severe. Six USH1 loci have been identified. We report a Palestinian consanguineous family from Jordan with three affected children. In view of the combination of profound hearing loss, vestibular dysfunction, and retinitis pigmentosa in the patients, we classified the disease as USH1. Linkage analysis excluded the involvement of any of the known USH1 loci. A genome-wide screening allowed us to map this novel locus, USH1G, in a 23-cM interval on chromosome 17q24-25. The USH1G interval overlaps the intervals for two dominant forms of isolated hearing loss, namely DFNA20 and DFNA26. Since several examples have been reported of syndromic and isolated forms of deafness being allelic, USH1G, DFNA20, and DFNA26 might result from alterations of the same gene. Finally, a mouse mutant, jackson shaker ( js), with deafness and circling behavior has been mapped to the murine homologous region on chromosome 11.

  17. 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.

  18. 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…

  19. 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

  20. 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.

  1. 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...

  2. 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)

  3. 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

  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 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.

  5. 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…

  6. Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings.

    Science.gov (United States)

    Mozzillo, Enza; Melis, Daniela; Falco, Mariateresa; Fattorusso, Valentina; Taurisano, Roberta; Flanagan, Sarah E; Ellard, Sian; Franzese, Adriana

    2013-08-01

    Thiamine responsive megaloblastic anemia (TRMA) is an autosomal recessive disease caused by loss of function mutations in the SLC19A2 gene. TRMA is characterized by anemia, deafness, and diabetes. In some cases, optic atrophy or more rarely retinitis pigmentosa is noted. We now report two sisters, the eldest of which presented to a different hospital during childhood with sensorineural deafness, which was treated with a hearing prosthesis, insulin requiring diabetes, retinitis pigmentosa, optic atrophy, and macrocytic anemia. These features initially suggested a clinical diagnosis of Wolfram syndrome (WS). Therapy with thiamine was initiated which resulted in the resolution of the anemia. The younger sister, who was affected with sensorineural deafness, was referred to our hospital for non-autoimmune diabetes. She was found to have macrocytosis and ocular abnormalities. Because a diagnosis of TRMA was suspected, therapy with insulin and thiamine was started. Sequencing analysis of the SLC19A2 gene identified a compound heterozygous mutation p.Y81X/p.L457X (c.242insA/c.1370delT) in both sisters. Non-autoimmune diabetes associated with deafness and macrocytosis, without anemia, suggests a diagnosis of TRMA. Patients clinically diagnosed with WS with anemia and/or macrocytosis should be reevaluated for TRMA. © 2012 John Wiley & Sons A/S.

  7. 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…

  8. Molecular characterization of WFS1 in patients with Wolfram syndrome

    NARCIS (Netherlands)

    Van den Ouweland, JMW; Cryns, K; Pennings, RJE; Walraven, [No Value; Janssen, GMC; Maassen, JA; Veldhuijzen, BFE; Arntzenius, AB; Lindhout, D; Cremers, CWRJ; Van Camp, G; Dikkeschei, LD

    Wolfram (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) syndrome is a rare autosomal-recessive neurodegenerative disorder that is characterized by juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing impairment. A gene responsible for

  9. Molecular characterization of WFS1 in patients with Wolfram syndrome.

    NARCIS (Netherlands)

    Ouweland, J.M.W. van den; Cryns, K.; Pennings, R.J.E.; Walraven, I.; Janssen, G.M.; Maassen, J.A.; Veldhuijzen, B.F.; Arntzenius, A.B.; Lindhout, D.; Cremers, C.W.R.J.; Camp, G. van; Dikkeschei, L.D.

    2003-01-01

    Wolfram (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) syndrome is a rare autosomal-recessive neurodegenerative disorder that is characterized by juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing impairment. A gene responsible for

  10. Hearing impairment in genotyped Wolfram syndrome patients.

    NARCIS (Netherlands)

    Plantinga, R.F.; Pennings, R.J.E.; Huygen, P.L.M.; Bruno, R.; Eller, P.; Barrett, T.G.; Vialettes, B.; Paquis-Fluklinger, V.; Lombardo, F.; Cremers, C.W.R.J.

    2008-01-01

    OBJECTIVES: Wolfram syndrome is a progressive neurodegenerative syndrome characterized by the features "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). We sought to study the audiometric data of genotyped Wolfram syndrome patients with sensorineural hearing impairment.

  11. 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

  12. 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…

  13. "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…

  14. Effects of early auditory experience on the spoken language of deaf children at 3 years of age.

    Science.gov (United States)

    Nicholas, Johanna Grant; Geers, Ann E

    2006-06-01

    By age 3, typically developing children have achieved extensive vocabulary and syntax skills that facilitate both cognitive and social development. Substantial delays in spoken language acquisition have been documented for children with severe to profound deafness, even those with auditory oral training and early hearing aid use. This study documents the spoken language skills achieved by orally educated 3-yr-olds whose profound hearing loss was identified and hearing aids fitted between 1 and 30 mo of age and who received a cochlear implant between 12 and 38 mo of age. The purpose of the analysis was to examine the effects of age, duration, and type of early auditory experience on spoken language competence at age 3.5 yr. The spoken language skills of 76 children who had used a cochlear implant for at least 7 mo were evaluated via standardized 30-minute language sample analysis, a parent-completed vocabulary checklist, and a teacher language-rating scale. The children were recruited from and enrolled in oral education programs or therapy practices across the United States. Inclusion criteria included presumed deaf since birth, English the primary language of the home, no other known conditions that interfere with speech/language development, enrolled in programs using oral education methods, and no known problems with the cochlear implant lasting more than 30 days. Strong correlations were obtained among all language measures. Therefore, principal components analysis was used to derive a single Language Factor score for each child. A number of possible predictors of language outcome were examined, including age at identification and intervention with a hearing aid, duration of use of a hearing aid, pre-implant pure-tone average (PTA) threshold with a hearing aid, PTA threshold with a cochlear implant, and duration of use of a cochlear implant/age at implantation (the last two variables were practically identical because all children were tested between 40 and 44

  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. 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...

  17. 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.

  18. [From gene to disease; mutations in the WFS1-gene as the cause of juvenile type I diabetes mellitus with optic atrophy (Wolfram syndrome)

    NARCIS (Netherlands)

    Pennings, R.J.E.; Dikkeschei, L.D.; Cremers, C.W.R.J.; Ouweland, J.M.W. van den

    2002-01-01

    Wolfram syndrome patients are mainly characterised by juvenile onset diabetes mellitus and optic atrophy. A synonym is the acronym DIDMOAD: diabetes insipidus, diabetes mellitus, optic atrophy, deafness. Diabetes insipidus and sensorineural high-frequency hearing impairment are important additional

  19. Cochlear implants and spoken language processing abilities: Review and assessment of the literature

    OpenAIRE

    Peterson, Nathaniel R.; Pisoni, David B.; Miyamoto, Richard T.

    2010-01-01

    Cochlear implants (CIs) process sounds electronically and then transmit electric stimulation to the cochlea of individuals with sensorineural deafness, restoring some sensation of auditory perception. Many congenitally deaf CI recipients achieve a high degree of accuracy in speech perception and develop near-normal language skills. Post-lingually deafened implant recipients often regain the ability to understand and use spoken language with or without the aid of visual input (i.e. lip reading...

  20. 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.

  1. Cultural Identity of Young Deaf Adults with Cochlear Implants in Comparison to Deaf without Cochlear Implants and Hard-of-Hearing Young Adults.

    Science.gov (United States)

    Goldblat, Ester; Most, Tova

    2018-07-01

    This study examined the relationships between cultural identity, severity of hearing loss (HL), and the use of a cochlear implant (CI). One hundred and forty-one adolescents and young adults divided into three groups (deaf with CI, deaf without CI, and hard-of-hearing (HH)) and 134 parents participated. Adolescents and young adults completed questionnaires on cultural identity (hearing, Deaf, marginal, bicultural-hearing, and bicultural-deaf) and communication proficiencies (hearing, spoken language, and sign language). Parents completed a speech quality questionnaire. Deaf participants without CI and those with CI differed in all identities except marginal identity. CI users and HH participants had similar identities except for a stronger bicultural-deaf identity among CI users. Three clusters of participants evolved: participants with a dominant bicultural-deaf identity, participants with a dominant bicultural-hearing identity and participants without a formed cultural identity. Adolescents and young adults who were proficient in one of the modes of communication developed well-established bicultural identities. Adolescents and young adults who were not proficient in one of the modes of communication did not develop a distinguished cultural identity. These results suggest that communication proficiencies are crucial for developing defined identities.

  2. 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.

  3. 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

  4. 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…

  5. 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…

  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. 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...

  8. 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

  9. 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.

  10. Reading skills after cochlear implantation

    NARCIS (Netherlands)

    Vermeulen, A.M.

    2007-01-01

    It has frequently been found that profoundly deaf children with conventional hearing aids have difficulties with the comprehension of written text. Cochlear Implants (CIs) were expected to enhance the reading comprehension of these profoundly deaf children because they provide auditory access to

  11. 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.

  12. 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

  13. 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.

  14. 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…

  15. 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...

  16. A sibship with a mild variant of Zellweger syndrome

    NARCIS (Netherlands)

    Barth, P. G.; Schutgens, R. B.; Wanders, R. J.; Heymans, H. S.; Moser, A. E.; Moser, H. W.; Bleeker-Wagemakers, E. M.; Jansonius-Schultheiss, K.; Derix, M.; Nelck, G. F.

    1987-01-01

    A mild variant of Zellweger (cerebro-hepato-renal) syndrome was diagnosed in male and female siblings aged 7 and 2 years. They had mild facial dysmorphia, moderate psychomotor retardation, tapetoretinal degeneration, sensorineural deafness and hepatomegaly. Ultrastructural examination of a liver

  17. ABCD syndrome is caused by a homozygous mutation in the EDNRB gene

    NARCIS (Netherlands)

    Verheij, JBGM; Kunze, J; Osinga, J; van Essen, AJ; Hofstra, RMW

    2002-01-01

    ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and deafness. This phenotype clearly overlaps with the features of the Shah-Waardenburg syndrome, comprising sensorineural

  18. Download this PDF file

    African Journals Online (AJOL)

    Nicky

    First described by Rogers, thiamine-responsive megaloblastic anaemia (TRMA) is a rare autosomal- recessive disorder characterised by megaloblastic anaemia, insulin-dependent diabetes mellitus and sensorineural deafness.1. The diagnosis is supported by a megaloblastic bone marrow, particularly the presence of ...

  19. An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

    DEFF Research Database (Denmark)

    Bonnet, Crystel; Riahi, Zied; Chantot-Bastaraud, Sandra

    2016-01-01

    Usher syndrome (USH), the most prevalent cause of hereditary deafness-blindness, is an autosomal recessive and genetically heterogeneous disorder. Three clinical subtypes (USH1-3) are distinguishable based on the severity of the sensorineural hearing impairment, the presence or absence...

  20. 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

  1. 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.

  2. 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.

  3. 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…

  4. A comparative study of age-related hearing loss in wild type and insulin-like growth factor I deficient mice

    Directory of Open Access Journals (Sweden)

    Raquel Riquelme

    2010-06-01

    Full Text Available Insulin-like growth factor-I (IGF-I belongs to the family of insulin-related peptides that fulfils a key role during the late development of the nervous system. Human IGF1 mutations cause profound deafness, poor growth and mental retardation. Accordingly, Igf1−/− null mice are dwarfs that have low survival rates, cochlear alterations and severe sensorineural deafness. Presbycusis (age-related hearing loss is a common disorder associated with aging that causes social and cognitive problems. Aging is also associated with a decrease in circulating IGF-I levels and this reduction has been related to cognitive and brain alterations, although there is no information as yet regarding the relationship between presbycusis and IGF-I biodisponibility. Here we present a longitudinal study of wild type Igf1+/+ and null Igf1−/− mice from 2 to 12 months of age comparing the temporal progression of several parameters: hearing, brain morphology, cochlear cytoarchitecture, insulin-related factors and IGF gene expression and IGF-I serum levels. Complementary invasive and non-invasive techniques were used, including auditory brainstem-evoked response (ABR recordings and in vivo MRI brain imaging. Igf1−/− null mice presented profound deafness at all the ages studied, without any obvious worsening of hearing parameters with aging. Igf1+/+ wild type mice suffered significant age-related hearing loss, their auditory thresholds and peak I latencies augmenting as they aged, in parallel with a decrease in the circulating levels of IGF-I. Accordingly, there was an age-related spiral ganglion degeneration in wild type mice that was not evident in the Igf1 null mice. However, the Igf1−/− null mice in turn developed a prematurely aged stria vascularis reminiscent of the diabetic strial phenotype. Our data indicate that IGF-I is required for the correct development and maintenance of hearing, supporting the idea that IGF-I-based therapies could contribute to

  5. Sudden Sensorineural Hearing Loss; Prognostic Factors

    Directory of Open Access Journals (Sweden)

    Arjun Dass

    2015-09-01

    Full Text Available Introduction: Sudden sensorineural hearing loss (SSNHL is a frightening and frustrating symptom for the patient as well as the physician. Prognosis is affected by multiple factors including duration of hearing loss, presence of associated vertigo and tinnitus, and co-morbidities such as hypertension and diabetes.   Materials and Methods: Forty subjects presenting to our department with features of sudden hearing loss were included in the study. Detailed otological history and examination, serial audiometric findings and course of disease were studied.   Results: Subjects presenting late (in older age, having associated vertigo, hypertension and diabetes had a significantly lower rate of recovery.   Conclusion:  Only 60–65% of patients experiencing SSNHL recover within a period of 1 month; this rate is further affected by presence of multiple prognostic indicators.

  6. 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.…

  7. 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.

  8. 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

  9. 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.

  10. Epidemiología de la pérdida auditiva neurosensorial pre-lingual en un centro de atención a niños de Bogotá, Colombia entre 1997 y 2008

    OpenAIRE

    Claudia Talero-Gutiérrez; Liliana Romero; Irma Carvajalino; Milciades Ibáñez

    2011-01-01

    Introduction: Hearing loss is a frequent problem in childhood with an incidence of about one case per 1000 births. Control of deafness should be aimed at prevention and early diagnosis in efforts to provide appropriate treatment and stimulate adequate communication in children affected. The objective of this study was to determine the prevalence of different etiologies among deaf children with a diagnosis of prelingual sensorineural hearing loss referred to the Fundación CINDA in Bogotá, Colo...

  11. Pediatric sudden sensorineural hearing loss: Etiology, diagnosis and treatment in 20 children.

    Science.gov (United States)

    Dedhia, Kavita; Chi, David H

    2016-09-01

    1. To report our experience in children with sudden-onset sensorineural hearing loss (SSNHL). 2. To describe the etiology and management of children with SSNHL. Retrospective review of 20 children with SSNHL, from 2000 to 2013 at a tertiary pediatric facility. Patients had the following inclusion criteria: history of normal hearing, hearing loss occurring in less than 3 days, and audiogram documentation. The average age of patients presenting with SSNHL is 11 years 3 months (22months-18years). Only 6 (30%) children presented prior to 2 weeks. Tinnitus (55%) was the most common associated symptoms followed by otalgia (25%), and vertigo (20%). Eight patients had bilateral hearing loss, 6 only right and 6 only left. Hearing loss severity ranged from profound (45%) being most common to mild. Etiology was unknown (30%), viral (25%), anatomic abnormality (25%), Meniere's disease (5%), autoimmune (5%), perilymphatic fistula (5%), and suppurative labyrinthitis (5%). Eight patients had initial treatment with oral steroids of which 50% had improvement on audiograms. Two patients underwent intratympanic injections, both showed improvement. Of the 12 patients with no treatment, only 1 had improved hearing. The true incidence of pediatric SSNHL is not well established in our literature. Unique aspects of pediatric SSNHL are delayed presentation and higher percent of anatomic findings. In our study 70% presented more than 2 weeks after experiencing symptoms. Anatomic abnormalities are in 40% of patients. Hearing improvement occurred in 50% of children treated with oral steroids. Intratympanic steroid treatment is another option but may have practical limitation in the pediatric population. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  12. Cochlear Implantation (CI for prelingual deafness: the relevance of studies of brain organization and the role of first language acquisition in considering outcome success.

    Directory of Open Access Journals (Sweden)

    Ruth eCampbell

    2014-10-01

    Full Text Available Cochlear implantation (CI for profound congenital hearing impairment, while often successful in restoring hearing to the deaf child, does not always result in effective speech processing. Exposure to non-auditory signals during the pre-implantation period is widely held to be responsible for such failures. Here, we question the inference that such exposure irreparably distorts the function of auditory cortex, negatively impacting the efficacy of cochlear implantation. Animal studies suggest that in congenital early deafness there is a disconnection between (disordered activation in primary auditory cortex (A1 and activation in secondary auditory cortex (A2. In humans, one factor contributing to this functional decoupling is assumed to be abnormal activation of A1 by visual projections – including exposure to sign language. In this paper we show that that this abnormal activation of A1 does not routinely occur, while A2 functions effectively supramodally and multimodally to deliver spoken language irrespective of hearing status. What, then, is responsible for poor outcomes for some individuals with CI and for apparent abnormalities in cortical organization in these people? Since infancy is a critical period for the acquisition of language, deaf children born to hearing parents are at risk of developing inefficient neural structures to support skilled language processing. A sign language, acquired by a deaf child as a first language in a signing environment, is cortically organized like a heard spoken language in terms of specialization of the dominant perisylvian system. However, very few deaf children are exposed to sign language in early infancy. Moreover, no studies to date have examined sign language proficiency in relation to cortical organization in individuals with CI. Given the paucity of such relevant findings, we suggest that the best guarantee of good language outcome after CI is the establishment of a secure first language pre

  13. 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.

  14. 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.

  15. 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…

  16. 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…

  17. 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…

  18. 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…

  19. Sensorineural hearing loss after magnetic resonance imaging

    DEFF Research Database (Denmark)

    Mollasadeghi, Abolfazl; Mehrparvar, Amir Houshang; Atighechi, Saeid

    2013-01-01

    Magnetic resonance imaging (MRI) devices produce noise, which may affect patient's or operators' hearing. Some cases of hearing impairment after MRI procedure have been reported with different patterns (temporary or permanent, unilateral or bilateral, with or without other symptoms like tinnitus)......). In this report, a case of bilateral sensorineural hearing loss in an otherwise healthy patient underwent brain MRI was described. The patient's hearing loss was accompanied with tinnitus and was not improved after 3 months of followup.......Magnetic resonance imaging (MRI) devices produce noise, which may affect patient's or operators' hearing. Some cases of hearing impairment after MRI procedure have been reported with different patterns (temporary or permanent, unilateral or bilateral, with or without other symptoms like tinnitus...

  20. Epidemiological and clinical aspects of ear nose and throat sensorineural emergencies in the Yaoundé reference hospital.

    Science.gov (United States)

    Djomou, François; Nkouo, Yves Christian Andjock; Mindja, Eko David; Nchinda, Choffor; Meka, Luc; Mbamyah-Lyonga, Emilia; Ndjolo, Alexis

    2016-01-01

    Sensorineural emergencies (SNE) are rare clinical situations. Few patients consult early explaining subsequent difficulty in having accurate data and management. Three clinical conditions are considered SNE in otolaryngology; they include sudden sensorineural hearing loss (SSHL), Bell's palsy and acute vertigo. There is very little data available on sensorineural emergencies in our setting. The aim of this study was to provide preliminary data on the management of Ear Nose and Throat (ENT) sensorineural emergency cases in Yaoundé Reference Hospital. A descriptive retrospective study was carried out based on data collected over a period of 5 years, January 2010 to July 2014 at the Yaoundé Reference Hospital. Information was obtained from patients' files collected from the archives of the institution. Patients presenting with SSHL, Bell's palsy, acute vertigo who consulted during the study period were included in the study. A total of 22 patients were included in the study out of 6406 patients who consulted at the ENT Unit. The prevalence of SNE in ENT consultations was 0.003, distributed as follows; 13 patients (59.1%) of SNE had Bell's palsy, seven (31.8%) had vestibular neuritis and two (9.1%) had SSHL. The prevalence of SNE was low with idiopathic Bell's palsy being the most frequent. There was a general delay in arrival of patients hence delay in diagnosis. This delay could equally be a factor for treatment failure and poor prognosis. More effort should be made in terms of population sensitization about the necessity of getting early medical attention.

  1. 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.

  2. 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.

  3. Chemical neuroprotection in the cochlea : The modulation of dopamine release from lateral olivocochlear efferents

    NARCIS (Netherlands)

    Lendvai, Balazs; Halmos, Gyorgy; Polony, Gabor; Kapocsi, Judit; Horvath, Tamas; Aller, Mate; Vizi, E. Sylvester; Zelles, Tibor

    The prevalence of sensorineural hearing loss is increasing worldwide, mainly due to ageing, increased noise exposure and cardiovascular risk factors. Several papers dealt with the mechanisms underlying the primary causes of impaired hearing and eventual deafness, including the damage and loss of

  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. Clinical and audiologic characteristics of patients with sensorineural tinnitus and its association with psychological aspects: an analytic retrospective study.

    Science.gov (United States)

    Al-Swiahb, Jamil Nasser; Hwang, Eul Seung; Kong, Ji Sun; Kim, Woo Jin; Yeo, Sang Won; Park, Shi Nae

    2016-12-01

    This study was performed to analyze clinical and audiologic characteristics of sensorineural tinnitus and to investigate the associating factors reflecting psychological aspects of stress and depression of the patients. This is a retrospective analytical study conducted in a tinnitus clinic of a tertiary referral center of a university hospital. The medical records of 216 patients suffering from sensorineural tinnitus were thoroughly evaluated to determine correlations between clinical and audiological characteristics, including age, sex, predisposing or etiologic factors, hearing levels up to extended high frequencies, and tinnitus severity. Psychological aspects of stress and depression were also evaluated and analyzed to seek the associations with tinnitus severity. All data were stored in our database bank and were statistically analyzed. Our study subjects showed a slight male predominance. The highest percentage of tinnitus was found in patients of 60-80 years old. Only 32.5 % of tinnitus patients were subjectively aware of their hearing loss, whereas 73 % of subjects had hearing deficits in some frequencies in their audiogram. Hearing impairments were of the low-frequency sensorineural type in 18.2 % of patients and were limited to the high frequencies in 77.9 % of patients. Tinnitus was unilateral in 51 % of patients and had a tonal nature in 45 % of patients. In total, 45.8 % of patients with high-frequency sensorineural hearing loss had high-pitched tinnitus. There were significant correlations between tinnitus severity, loudness and annoyance. Correlations with THI (Tinnitus Handicap Inventory) and Beck depression index scores were also found. Sensorineural tinnitus was related with hearing loss in some frequencies nevertheless of patients' own awareness of hearing loss. Loudness and annoyance of tinnitus seems to be two important factors reflecting psychological problems of patients' stress and depression.

  6. 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...

  7. 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

  8. 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.

  9. 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…

  10. 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.

  11. 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

  12. Analysis of common deafness gene mutations in deaf people from unique ethnic groups in Gansu Province, China.

    Science.gov (United States)

    Xu, Bai-Cheng; Bian, Pan-Pan; Liu, Xiao-Wen; Zhu, Yi-Ming; Yang, Xiao-Long; Ma, Jian-Li; Chen, Xing-Jian; Wang, Yan-Li; Guo, Yu-Fen

    2014-09-01

    The GJB2 gene mutation characteristic of Dongxiang was the interaction result of ethnic background and geographical environment, and Yugur exhibited the typical founder effect. The SLC26A4 gene mutation characteristic of Dongxiang was related to caucasian backgrounds and selection of purpose exons, i.e. ethnic background and the penetrance of ethnic specificity caused the low mtDNA1555A>G mutation frequency in Dongxiang. To determine the prevalence of GJB2 and SLC26A4 genes and mtDNA1555A>G mutations and analyze the ethnic specificity in the non-syndromic sensorineural hearing loss (NSHL) of unique ethnic groups in Gansu Province. Peripheral blood samples were obtained from Dongxiang, Yugur, Bonan, and ethnic Han groups with moderately severe to profound NSHL in Gansu Province. Bidirectional sequencing (or enzyme digestion) was applied to identify the sequence variations. The pathogenic allele frequency of the three gene mutations was different. The frequency of the GJB2 gene among the Dongxiang, Yugur, Bonan, and ethnic Han groups was 9.03%, 12.5%, 5.88%, and 12.17%, respectively. No difference was found between the ethnic groups. The frequencies of the SLC26A4 genes were 3.23%, 8.33%, 0%, and 9.81%, respectively. The mutation frequency of mtDNA1555A>G was 0%, 0%, 0%, and 6.03%, respectively. No difference was found between the ethnic groups, except for the Dongxiang and ethnic Han groups, both in SLC26A4 gene and mtDNA1555A>G.

  13. 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)

  14. Brainstem auditory evoked responses in an equine patient population: part I--adult horses.

    Science.gov (United States)

    Aleman, M; Holliday, T A; Nieto, J E; Williams, D C

    2014-01-01

    Brainstem auditory evoked response has been an underused diagnostic modality in horses as evidenced by few reports on the subject. To describe BAER findings, common clinical signs, and causes of hearing loss in adult horses. Study group, 76 horses; control group, 8 horses. Retrospective. BAER records from the Clinical Neurophysiology Laboratory were reviewed from the years of 1982 to 2013. Peak latencies, amplitudes, and interpeak intervals were measured when visible. Horses were grouped under disease categories. Descriptive statistics and a posthoc Bonferroni test were performed. Fifty-seven of 76 horses had BAER deficits. There was no breed or sex predisposition, with the exception of American Paint horses diagnosed with congenital sensorineural deafness. Eighty-six percent (n = 49/57) of the horses were younger than 16 years of age. The most common causes of BAER abnormalities were temporohyoid osteoarthropathy (THO, n = 20/20; abnormalities/total), congenital sensorineural deafness in Paint horses (17/17), multifocal brain disease (13/16), and otitis media/interna (4/4). Auditory loss was bilateral and unilateral in 74% (n = 42/57) and 26% (n = 15/57) of the horses, respectively. The most common causes of bilateral auditory loss were sensorineural deafness, THO, and multifocal brain disease whereas THO and otitis were the most common causes of unilateral deficits. Auditory deficits should be investigated in horses with altered behavior, THO, multifocal brain disease, otitis, and in horses with certain coat and eye color patterns. BAER testing is an objective and noninvasive diagnostic modality to assess auditory function in horses. Copyright © 2014 by the American College of Veterinary Internal Medicine.

  15. 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…

  16. 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…

  17. 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.

  18. 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.

  19. 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...

  20. Static and dynamic balance of children and adolescents with sensorineural hearing loss.

    Science.gov (United States)

    Melo, Renato de Souza; Marinho, Sônia Elvira Dos Santos; Freire, Maryelly Evelly Araújo; Souza, Robson Arruda; Damasceno, Hélio Anderson Melo; Raposo, Maria Cristina Falcão

    2017-01-01

    To assess the static and dynamic balance performance of students with normal hearing and with sensorineural hearing loss. A cross-sectional study assessing 96 students, 48 with normal hearing and 48 with sensorineural hearing loss of both sexes, aged 7 and 18 years. To evaluate static balance, Romberg, Romberg-Barré and Fournier tests were used; and for the dynamic balance, we applied the Unterberger test. Hearing loss students showed more changes in static and dynamic balance as compared to normal hearing, in all tests used (pRomberg, Romberg-Barré, Fournier and Unterberger test p values were, respectively, p=0.004, pRomberg, Romberg-Barré and Fournier tests were, respectively, p=0.007, pRomberg, Romberg-Barré, Fournier and Unterberger tests were p=0.002, pRomberg-Barré, Fournier and Unterberger tests were, respectively, p=0.037, p<0.001 and p=0.037. Hearing-loss students showed more changes in static and dynamic balance comparing to normal hearing of same sex and age groups.

  1. Sensori-neural hearing loss in patients treated with irradiation for nasopharyngeal carcinoma

    International Nuclear Information System (INIS)

    Grau, C.; Moller, K.; Overgaard, M.; Overgaard, J.; Elbrond, O.

    1991-01-01

    The present investigation has been carried out to evaluate the sensitivity of the inner ear to irradiation. Cochlear function was tested in a cohort of 22 patients before and 7-84 months after receiving external irradiation for nasopharyngeal carcinoma. The pre-irradiation sensori-neural hearing threshold at 500, 1000, 2000, and 4000 Hz was used as a baseline for the individual patient, and the observed sensori-neural hearing loss (SNHL) was calculated as the difference between pre- and post-irradiation values. The pre-irradiation hearing level or patient age was not correlated with the actual SNHL. In contrast, there was a significant correlation between the total radiation dose to the inner ear and the observed hearing impairment. SNHL was most pronounced in the high frequencies, with values up to 35 dB (4000 Hz) and 25 dB (2000 Hz) in some patients. The latent period for the complication appeared to be 12 months or more. The deleterious effect of irradiation on the hearing should be kept in mind both in treatment planning and in the follow-up after radiotherapy

  2. Epileptiform electroencephalogram abnormality in children with congenital sensorineural hearing loss.

    Science.gov (United States)

    El-Badry, Mohamed Mohamed; Hamdy, Nermin Aly; Sobhy, Sayed; Gamal, Reham

    2014-04-01

    This work was designed to study electroencephalogram findings in children with congenital sensorineural hearing loss and correlate these findings with the SNHL parameters as duration, etiology, severity, and type. Ninety children with bilateral congenital sensorineural hearing loss served as the study group. They were free from any neurological disorders or symptoms that are commonly associated with abnormal electroencephalogram as convulsions or loss of consciousness. Twenty children having normal hearing with no history of otological or neurological disorders served as the control group. All children participating in the study were subjected to full medical and audiological history, otological examination, neurological examination, audiological evaluation and electroencephalogram recording. Mean age of the children in the control group was 3.56 ± 2.1 years and mean age of the children in the study group was 3.8 ± 2.2 years. While none of the control children had abnormal electroencephalogram, 38 (42.2%) of children with congenital SNHL had epileptiform electroencephalogram abnormality. The epileptiform abnormality was generalized in 14 children (36.8%), focal temporal in 17 children (44.7%) and focal other than temporal in 7 children (18.4%). According to the hemispheric side affected, the abnormality was right in 14 children (36.8%), left in 10 children (26.3%) and bilateral in 14 children (36.8%). No statistically significant predominance of specific site or side of the epileptiform abnormality was found. Similarly, no statistical significant prevalent of the epileptiform abnormality was found in relation to the age or sex of children, duration of hearing loss or etiology of hearing loss (i.e., genetic vs. neonatal insults). On the other hand, the epileptiform abnormality was statistically prevalent in children with moderate degree of hearing loss, and in children with auditory neuropathy spectrum disorder. The epileptiform electroencephalogram abnormality is

  3. 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…

  4. 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)

  5. 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

  6. [Dynamics of hormonal parameters changes in workers affected by noise nuisance].

    Science.gov (United States)

    Lizarev, A V

    2008-01-01

    The dynamics of hormonal parameters changes in workers of noise dangerous occupations was studied over 5 year period. It was shown that with extension of length of service the content of hormones in peripheral blood of patients with sensorineural deafness has not changed significantly.

  7. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.

    Science.gov (United States)

    Ebermann, Inga; Scholl, Hendrik P N; Charbel Issa, Peter; Becirovic, Elvir; Lamprecht, Jürgen; Jurklies, Bernhard; Millán, José M; Aller, Elena; Mitter, Diana; Bolz, Hanno

    2007-04-01

    Usher syndrome is an autosomal recessive condition characterized by sensorineural hearing loss, variable vestibular dysfunction, and visual impairment due to retinitis pigmentosa (RP). The seven proteins that have been identified for Usher syndrome type 1 (USH1) and type 2 (USH2) may interact in a large protein complex. In order to identify novel USH genes, we followed a candidate strategy, assuming that mutations in proteins interacting with this "USH network" may cause Usher syndrome as well. The DFNB31 gene encodes whirlin, a PDZ scaffold protein with expression in both hair cell stereocilia and retinal photoreceptor cells. Whirlin represents an excellent candidate for USH2 because it binds to Usherin (USH2A) and VLGR1b (USH2C). Genotyping of microsatellite markers specific for the DFNB31 gene locus on chromosome 9q32 was performed in a German USH2 family that had been excluded for all known USH loci. Patients showed common haplotypes. Sequence analysis of DFNB31 revealed compound heterozygosity for a nonsense mutation, p.Q103X, in exon 1, and a mutation in the splice donor site of exon 2, c.837+1G>A. DFNB31 mutations appear to be a rare cause of Usher syndrome, since no mutations were identified in an additional 96 USH2 patients. While mutations in the C-terminal half of whirlin have previously been reported in non-syndromic deafness (DFNB31), both alterations identified in our USH2 family affect the long protein isoform. We propose that mutations causing Usher syndrome are probably restricted to exons 1-6 that are specific for the long isoform and probably crucial for retinal function. We describe a novel genetic subtype for Usher syndrome, which we named USH2D and which is caused by mutations in whirlin. Moreover, this is the first case of USH2 that is allelic to non-syndromic deafness.

  8. 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.

  9. Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect.

    Science.gov (United States)

    Barashkov, Nikolay A; Dzhemileva, Lilya U; Fedorova, Sardana A; Teryutin, Fedor M; Posukh, Olga L; Fedotova, Elvira E; Lobov, Simeon L; Khusnutdinova, Elza K

    2011-09-01

    Hereditary forms of hearing impairment (HI) caused by GJB2 (Cx26) mutations are the frequent sensory disorders registered among newborns in various human populations. In this study, we present data on the molecular, audiological and population features of autosomal recessive deafness 1A (DFNB1A) associated with the donor splicing site IVS1+1G>A mutation of GJB2 gene in Yakut population isolate of the Sakha Republic (Yakutia) located in Eastern Siberia (Russian Federation). The Yakut population exhibits high frequency of some Mendelian disorders, which are rare in other populations worldwide. Mutational analysis of GJB2 gene in 86 unrelated Yakut patients with congenital HI without other clinical features has been performed. In this study, we registered a large cohort of Yakut patients homozygous for the IVS1+1G>A mutation (70 unrelated deaf subjects in total). Detailed audiological analysis of 40 deaf subjects with genotype IVS1+1G>A/IVS1+1G>A revealed significant association of this genotype with mostly symmetrical bilateral severe to profound HI (85% severe-to-profound HI versus 15% mild-to-moderate HI, PA mutation (11.7%) has been found in Yakut population. Reconstruction of 140 haplotypes with IVS1+1G>A mutation demonstrates the common origin of all mutant chromosomes found in Yakuts. The age of mutation was estimated to be approximately 800 years. These findings characterize Eastern Siberia as the region with the most extensive accumulation of the IVS1+1G>A mutation in the world as a result of founder effect.

  10. Randomised, double-blinded, placebo-controlled, clinical trial of ozone therapy as treatment of sudden sensorineural hearing loss.

    Science.gov (United States)

    Ragab, A; Shreef, E; Behiry, E; Zalat, S; Noaman, M

    2009-01-01

    To investigate the safety and efficacy of ozone therapy in adult patients with sudden sensorineural hearing loss. Prospective, randomised, double-blinded, placebo-controlled, parallel group, clinical trial. Forty-five adult patients presented with sudden sensorineural hearing loss, and were randomly allocated to receive either placebo (15 patients) or ozone therapy (auto-haemotherapy; 30 patients). For the latter treatment, 100 ml of the patient's blood was treated immediately with a 1:1 volume, gaseous mixture of oxygen and ozone (from an ozone generator) and re-injected into the patient by intravenous infusion. Treatments were administered twice weekly for 10 sessions. The following data were recorded: pre- and post-treatment mean hearing gains; air and bone pure tone averages; speech reception thresholds; speech discrimination scores; and subjective recovery rates. Significant recovery was observed in 23 patients (77 per cent) receiving ozone treatment, compared with six (40 per cent) patients receiving placebo (p < 0.05). Mean hearing gains, pure tone averages, speech reception thresholds and subjective recovery rates were significantly better in ozone-treated patients compared with placebo-treated patients (p < 0.05). Ozone therapy is a significant modality for treatment of sudden sensorineural hearing loss; no complications were observed.

  11. 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.

  12. 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 ...

  13. 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,…

  14. 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.

  15. 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.

  16. 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…

  17. 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.

  18. Cochlear implant benefits in deafness rehabilitation: PET study of temporal voice Activations

    Energy Technology Data Exchange (ETDEWEB)

    Coez, A.; Zilbovicius, M. [CEA, Serv Hosp Frederic Joliot, INSERM, Res Unit Neuroimaging and Psychiat, U797, IFR49, F-91406 Orsay (France); Zilbovicius, M.; Syrota, A.; Samson, Y. [CEA, DSV, DRM, Serv Hosp Frederic Joliot, F-91406 Orsay (France); Bizaguet, E. [Lab Correct Audit, Paris (France); Coez, A. [Univ Paris Sud 11, Paris (France); Ferrary, E.; Bouccara, D.; Mosnier, I.; Sterkers, O. [INSERM, Unit M 867, Paris (France); Ambert-Dahan, E. [Hop Beaujon, Serv ORL Chirurg Cervicofaciale, AP-HP, Clichy (France); Ferrary, E.; Bouccara, D.; Mosnier, I.; Sterkers, O. [Inst Fed Rech Claude Bernard Physiol et Pathol, IFR02, Paris (France); Samson, Y. [Hop La Pitie Salpetriere, Serv Urgences Cerebro-vasc, AP-HP, Paris (France); Samson, Y. [Univ Paris 06, Paris (France); Sterkers, O. [Univ Denis Diderot Paris 7, Paris (France)

    2008-07-01

    Cochlear implants may improve the medical and social prognosis of profound deafness. Nevertheless, some patients have experienced poor results without any clear explanations. One correlate may be an alteration in cortical voice processing. To test this hypothesis, we studied the activation of human temporal voice areas (TVA) using a well-standardized PET paradigm adapted from previous functional MRI (fMRI) studies. Methods: A PET H{sub 2}{sup 15}O activation study was performed on 3 groups of adult volunteers: normal-hearing control subjects (n 6) and cochlear-implanted post-lingually deaf patients with {>=}2 y of cochlear implant experience, with intelligibility scores in the 'Lafon monosyllabic task' {>=}80% (Good group; n 6) or {<=}20% (Poor group; n 6). Relative cerebral blood flow was measured in 3 conditions: rest, passive listening to human voice, and non-voice stimuli. Results: Compared with silence, the activations induced by non-voice stimuli were bilaterally located in the superior temporal regions in all groups. However these activations were significantly and similarly reduced in both cochlear implant groups, whereas control subjects showed supplementary activations. Compared with non-voice, the voice stimuli induced bilateral activation of the TVA along the superior temporal sulcus (STS) in both the control and the Good groups. In contrast, these activations were not detected in the Poor group, which showed only left unilateral middle STS activation. Conclusion: These results suggest that PET is an adequate method to explore cochlear implant benefits and that this benefit could be linked to the activation of the TVA. (authors)

  19. Cochlear implant benefits in deafness rehabilitation: PET study of temporal voice Activations

    International Nuclear Information System (INIS)

    Coez, A.; Zilbovicius, M.; Zilbovicius, M.; Syrota, A.; Samson, Y.; Bizaguet, E.; Coez, A.; Ferrary, E.; Bouccara, D.; Mosnier, I.; Sterkers, O.; Ambert-Dahan, E.; Ferrary, E.; Bouccara, D.; Mosnier, I.; Sterkers, O.; Samson, Y.; Samson, Y.; Sterkers, O.

    2008-01-01

    Cochlear implants may improve the medical and social prognosis of profound deafness. Nevertheless, some patients have experienced poor results without any clear explanations. One correlate may be an alteration in cortical voice processing. To test this hypothesis, we studied the activation of human temporal voice areas (TVA) using a well-standardized PET paradigm adapted from previous functional MRI (fMRI) studies. Methods: A PET H 2 15 O activation study was performed on 3 groups of adult volunteers: normal-hearing control subjects (n 6) and cochlear-implanted post-lingually deaf patients with ≥2 y of cochlear implant experience, with intelligibility scores in the 'Lafon monosyllabic task' ≥80% (Good group; n 6) or ≤20% (Poor group; n 6). Relative cerebral blood flow was measured in 3 conditions: rest, passive listening to human voice, and non-voice stimuli. Results: Compared with silence, the activations induced by non-voice stimuli were bilaterally located in the superior temporal regions in all groups. However these activations were significantly and similarly reduced in both cochlear implant groups, whereas control subjects showed supplementary activations. Compared with non-voice, the voice stimuli induced bilateral activation of the TVA along the superior temporal sulcus (STS) in both the control and the Good groups. In contrast, these activations were not detected in the Poor group, which showed only left unilateral middle STS activation. Conclusion: These results suggest that PET is an adequate method to explore cochlear implant benefits and that this benefit could be linked to the activation of the TVA. (authors)

  20. 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…

  1. 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.

  2. 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…

  3. 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...

  4. Language Development and Impairment in Children with Mild to Moderate Sensorineural Hearing Loss

    Science.gov (United States)

    Halliday, Lorna F.; Tuomainen, Outi; Rosen, Stuart

    2017-01-01

    Purpose: The goal of this study was to examine language development and factors related to language impairments in children with mild to moderate sensorineural hearing loss (MMHL). Method: Ninety children, aged 8-16 years (46 children with MMHL; 44 aged-matched controls), were administered a battery of standardized language assessments, including…

  5. Sensorineural hearing loss in hemorrhagic dengue?

    Directory of Open Access Journals (Sweden)

    Bruna Natália Freire Ribeiro

    2015-01-01

    Discussion and conclusion: This is the first case report that brings together DHF and sudden hearing loss. In the development of this case no other cause to sudden hearing loss was found and the correlation between dengue and hearing loss was questioned. In the literature review was found that some viruses, as mumps virus, varicella-zoster virus and HSV-1 and HSV-2 are related to sudden hearing loss, all of them fit in the viral theory. Besides the viral theory of sudden hearing loss, there is the vascular theory that is the occlusion of the end artery that supplies the cochlea. DHF has a vascular commitment, and the hypothesis of a vascular cause could be elicited in this case. Many studies in this area are needed and this article has the objective of elicit the discussion about the subject. Could dengue be associated with sensorineural hearing loss?

  6. [Correlation of auditory-verbal skills in patients with cochlear implants and their evaluation in positone emission tomography (PET)].

    Science.gov (United States)

    Łukaszewicz, Zuzanna; Soluch, Paweł; Niemczyk, Kazimierz; Lachowska, Magdalena

    2010-06-01

    An assumption was taken that in central nervous system (CNS) in patients above 15 years of age there are possible mechanisms of neuronal changes. Those changes allow for reconstruction or formation of natural activation pattern of appropriate brain structures responsible for auditory speech processing. The aim of the study was to observe if there are any dynamic functional changes in central nervous system and their correlation to the auditory-verbal skills of the patients. Nine right-handed patients between 15 and 36 years of age were examined, 6 females and 3 males. All of them were treated with cochlear implantation and are in frequent follow-up in the Department of Otolaryngology at the Medical University of Warsaw due to profound sensorineural hearing loss. In present study the patients were examined within 24 hours after the first fitting of the speech processor of the cochlear implant, and 1 and 2 years subsequently. Combination of performed examinations consisted of: positone emission tomography of the brain, and audiological tests including speech assessment. In the group of patients 4 were postlingually deaf, and 5 were prelinqually deaf. Postlingually deaf patients achieved great improvement of hearing and speech understanding. In their first PET examination very intensive activation of visual cortex V1 and V2 (BA17 and 18) was observed. There was no significant activation in the dominant (left) hemisphere of the brain. In PET examination performed 1 and 2 years after the cochlear implantation no more V1 and V2 activation region was observed. Instead particular regions of the left hemisphere got activated. In prelingually deaf patients no significant changes in central nervous system were noticeable neither in PET nor in speech assessment, although their hearing possibilities improved. Positive correlation was observed between the level of speech understanding, linguistic skills and the activation of appropriate areas of the left hemisphere of the brain

  7. Brain-based individual difference measures of reading skill in deaf and hearing adults.

    Science.gov (United States)

    Mehravari, Alison S; Emmorey, Karen; Prat, Chantel S; Klarman, Lindsay; Osterhout, Lee

    2017-07-01

    Most deaf children and adults struggle to read, but some deaf individuals do become highly proficient readers. There is disagreement about the specific causes of reading difficulty in the deaf population, and consequently, disagreement about the effectiveness of different strategies for teaching reading to deaf children. Much of the disagreement surrounds the question of whether deaf children read in similar or different ways as hearing children. In this study, we begin to answer this question by using real-time measures of neural language processing to assess if deaf and hearing adults read proficiently in similar or different ways. Hearing and deaf adults read English sentences with semantic, grammatical, and simultaneous semantic/grammatical errors while event-related potentials (ERPs) were recorded. The magnitude of individuals' ERP responses was compared to their standardized reading comprehension test scores, and potentially confounding variables like years of education, speechreading skill, and language background of deaf participants were controlled for. The best deaf readers had the largest N400 responses to semantic errors in sentences, while the best hearing readers had the largest P600 responses to grammatical errors in sentences. These results indicate that equally proficient hearing and deaf adults process written language in different ways, suggesting there is little reason to assume that literacy education should necessarily be the same for hearing and deaf children. The results also show that the most successful deaf readers focus on semantic information while reading, which suggests aspects of education that may promote improved literacy in the deaf population. Copyright © 2017 Elsevier Ltd. All rights reserved.

  8. 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.

  9. 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…

  10. 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…

  11. The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

    NARCIS (Netherlands)

    Bosch, Annet M.; Stroek, Kevin; Abeling, Nico G.; Waterham, Hans R.; Ijlst, Lodewijk; Wanders, Ronald J. A.

    2012-01-01

    The Brown-Vialetto-Van Laere syndrome is a rare neurological disorder which may present at all ages with sensorineural deafness, bulbar palsy and respiratory compromise. Fazio-Londe syndrome is considered to be the same disease entity. Recently it was demonstrated that in some patients the disease

  12. Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders

    NARCIS (Netherlands)

    Al-Maawali, Almundher; Dupuis, Lucie; Blaser, Susan; Heon, Elise; Tarnopolsky, Mark; Al-Murshedi, Fathiya; Marshall, Christian R.; Paton, Tara; Scherer, Stephen W.; Roelofsen, Jeroen; van Kuilenburg, André B. P.; Mendoza-Londono, Roberto; Boycott, Kym; Friedman, Jan; Michaud, Jacques; Bernier, Francois; Brudno, Michael; Fernandez, Bridget; Knoppers, Bartha; Samuels, Mark; Scherer, Steve; Marcadier, Janet; Beaulieu, Chandree

    2015-01-01

    PRPS1 codes for the enzyme phosphoribosyl pyrophosphate synthetase-1 (PRS-1). The spectrum of PRPS1-related disorders associated with reduced activity includes Arts syndrome, Charcot-Marie-Tooth disease-5 (CMTX5) and X-linked non-syndromic sensorineural deafness (DFN2). We describe a novel phenotype

  13. Postnatal development of the endbulb of Held in congenitally deaf cats

    Directory of Open Access Journals (Sweden)

    Christa A Baker

    2010-05-01

    Full Text Available The endbulbs of Held are formed by the ascending branches of myelinated auditory nerve fibers and represent one of the largest synaptic endings in the brain. Normally, these endings are highly branched and each can form up to 1000 dome-shaped synapses. The deaf white cat is a model of congenital deafness involving a type of cochleosaccular degeneration that mimics the Scheibe deformity in humans. Mature deaf white cats exhibit reduced endbulb branching, hypertrophy of postsynaptic densities (PSDs, and changes in synaptic vesicle density. Because cats are essentially deaf at birth, we wanted to determine if the progression of brain abnormalities was linked in time to the failure of normal hearing development. The rationale was that the lack of sound-evoked activity would trigger pathologic change in deaf kittens. The cochleae of deaf cats did not exhibit abnormal morphology at birth. After the first postnatal week, however, the presence of a collapsed scala media signaled the difference between deaf and hearing cats. By working backwards in age, endbulbs of deaf cats expressed flattened and elongated PSDs and increased synaptic vesicle density as compared to normal endbulbs. These differences are present at birth in some white kittens, presaging deafness despite their normal cochlear histology. We speculate that hearing pathology is signaled by a perinatal loss of spontaneous bursting activity in auditory nerve fibers or perhaps by some factor released by hair cell synapses before obliteration of the organ of Corti.

  14. The benefits of sign language for deaf learners with language challenges

    Directory of Open Access Journals (Sweden)

    Van Staden, Annalene

    2009-12-01

    Full Text Available This article argues the importance of allowing deaf children to acquire sign language from an early age. It demonstrates firstly that the critical/sensitive period hypothesis for language acquisition can be applied to specific language aspects of spoken language as well as sign languages (i.e. phonology, grammatical processing and syntax. This makes early diagnosis and early intervention of crucial importance. Moreover, research findings presented in this article demonstrate the advantage that sign language offers in the early years of a deaf child’s life by comparing the language development milestones of deaf learners exposed to sign language from birth to those of late-signers, orally trained deaf learners and hearing learners exposed to spoken language. The controversy over the best medium of instruction for deaf learners is briefly discussed, with emphasis placed on the possible value of bilingual-bicultural programmes to facilitate the development of deaf learners’ literacy skills. Finally, this paper concludes with a discussion of the implications/recommendations of sign language teaching and Deaf education in South Africa.

  15. 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.

  16. Impact of Genetic Counseling and Connexin-26 and Connexin-30 Testing on Deaf Identity and Comprehension of Genetic Test Results in a Sample of Deaf Adults: A Prospective, Longitudinal Study

    Science.gov (United States)

    Palmer, Christina G. S.; Boudreault, Patrick; Baldwin, Erin E.; Sinsheimer, Janet S.

    2014-01-01

    Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community. This study specifically evaluated the effect of genetic counseling and Connexin-26 and Connexin-30 genetic test results on participants' deaf identity and understanding of their genetic test results. Connexin-26 and Connexin-30 genetic testing was offered to participants in the context of linguistically and culturally appropriate genetic counseling. Questionnaire data collected from 209 deaf adults at four time points (baseline, immediately following pre-test genetic counseling, 1-month following genetic test result disclosure, and 6-months after result disclosure) were analyzed. Four deaf identity orientations (hearing, marginal, immersion, bicultural) were evaluated using subscales of the Deaf Identity Development Scale-Revised. We found evidence that participants understood their specific genetic test results following genetic counseling, but found no evidence of change in deaf identity based on genetic counseling or their genetic test results. This study demonstrated that culturally and linguistically appropriate genetic counseling can improve deaf clients' understanding of genetic test results, and the formation of deaf identity was not directly related to genetic counseling or Connexin-26 and Connexin-30 genetic test results. PMID:25375116

  17. Outline of deaf schools on the level throughout the country : A study on architectural planning for the deaf school Part 1

    OpenAIRE

    平根, 孝光

    1993-01-01

    This paper is to make clear in outline of deaf schools on the level throughout the country in 1990s. The factors might supposedly exhibit the characteristics of deaf schools are as follows : 1) In deaf schools which have 4 departments and in which early-age education for such children of no less than 3 years of age is executed, babies, young children, children, and juveniles whose age cover a wide renge from 0 to 21 study in a same school, where great gaps are evidently noticed in such people...

  18. 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.

  19. 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.

  20. 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...

  1. 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…

  2. Development of social-cognitive and communication skills in children born deaf.

    Science.gov (United States)

    Peterson, Candida C

    2009-10-01

    Central to the interface of social-cognitive and communicative development is the growth of a theory of mind (ToM). ToM is mastered by most hearing children and deaf children of signing deaf parents by the age of 5 or 6 but is often seriously delayed in deaf children of hearing parents. This paper reviews recently published research on deaf children's ToM development and presents an original study consisting of eight longitudinal case histories that collectively map late-signing deaf children's ToM performance from 44 to 158 months of age. While five tentative conclusions can be posited from the collective research so far, further investigation of each of these possibilities is clearly needed.

  3. 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…

  4. 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

  5. Speech recognition and communication outcomes with cochlear implantation in Usher syndrome type 3.

    Science.gov (United States)

    Pietola, Laura; Aarnisalo, Antti A; Abdel-Rahman, Akram; Västinsalo, Hanna; Isosomppi, Juha; Löppönen, Heikki; Kentala, Erna; Johansson, Reijo; Valtonen, Hannu; Vasama, Juha-Pekka; Sankila, Eeva-Marja; Jero, Jussi

    2012-01-01

    Usher syndrome Type 3 (USH3) is an autosomal recessive disorder characterized by variable type and degree of progressive sensorineural hearing loss and retinitis pigmentosa. Cochlear implants are widely used among these patients. To evaluate the results and benefits of cochlear implantation in patients with USH3. A nationwide multicenter retrospective review. During the years 1995-2005, in 5 Finnish university hospitals, 19 patients with USH3 received a cochlear implant. Saliva samples were collected to verify the USH3 genotype. Patients answered to 3 questionnaires: Glasgow Benefit Inventory, Glasgow Health Status Inventory, and a self-made questionnaire. Audiological data were collected from patient records. All the patients with USH3 in the study were homozygous for the Finnish major mutation (p.Y176X). Either they had severe sensorineural hearing loss or they were profoundly deaf. The mean preoperative hearing level (pure-tone average, 0.5-4 kHz) was 110 ± 8 dB hearing loss (HL) and the mean aided hearing level was 58 ± 11 dB HL. The postoperative hearing level (34 ± 9 dB HL) and word recognition scores were significantly better than before surgery. According to the Glasgow Benefit Inventory scores and Glasgow Health Status Inventory data related to hearing, the cochlear implantation was beneficial to patients with USH3. Cochlear implantation is beneficial to patients with USH3, and patients learn to use the implant without assistance.

  6. Clinical manifestations of Waardenburg syndrome in a male adolescent in Mali, West Africa.

    Science.gov (United States)

    Imperato, Pascal James; Imperato, Gavin H

    2015-02-01

    Waardenburg syndrome (WS) is a genetic disorder of which there are four distinct types. These four types are differentiated by the physical defects which they produce. Presented here is the case of a 13-year-old boy with WS Type I who was observed and physically assessed in Mali, West Africa in 1969. His physical findings included a bright blue coloring to the irises of the eyes, profound sensorineural deafness, mutism, dystopia canthorum (lateral displacement of the inner canthi of the eyes), broad nasal root, bushy eyebrows, and scaphoid deformities of the supraorbital portions of the frontal bone. Because family members were not available for interviews or physical examinations, it was not possible to determine if this patient was suffering from a congenital form of the disorder or from a spontaneous mutation. Given the patient's then location in a remote rural area of Mali where electricity was absent, it was not possible to perform additional diagnostic tests. The patient described here is the first with WS in Mali, West Africa to have been medically observed and evaluated and later documented in the medical literature. A second case of the syndrome in Mali was described in the medical literature in 2011 in an 18-month-old infant who did not have sensorineural hearing loss, but who did have a bilateral cleft lip. An historical overview of WS is presented along with details concerning the characteristics of the four types of the disorder.

  7. 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…

  8. Kidney failure in mice lacking the tetraspanin CD151

    NARCIS (Netherlands)

    Sachs, Norman; Kreft, Maaike; van den Bergh Weerman, Marius A.; Beynon, Andy J.; Peters, Theo A.; Weening, Jan J.; Sonnenberg, Arnoud

    2006-01-01

    The tetraspanin CD151 is a cell-surface molecule known for its strong lateral interaction with the laminin-binding integrin alpha3beta1. Patients with a nonsense mutation in CD151 display end-stage kidney failure associated with regional skin blistering and sensorineural deafness, and mice lacking

  9. Kidney failure in mice lacking the tetraspanin CD151.

    NARCIS (Netherlands)

    Sachs, N.; Kreft, M.; Bergh Weerman, M. van der; Beynon, A.J.; Peters, T.A.; Weening, J.J.; Sonnenberg, A.

    2006-01-01

    The tetraspanin CD151 is a cell-surface molecule known for its strong lateral interaction with the laminin-binding integrin alpha3beta1. Patients with a nonsense mutation in CD151 display end-stage kidney failure associated with regional skin blistering and sensorineural deafness, and mice lacking

  10. 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.

  11. The Deaf community in Flanders and South Africa : An ethnographic analysis

    OpenAIRE

    Vermeerbergen, Myriam; Van Herreweghe, Mieke

    2008-01-01

    Schein (1989) proposes a theory of Deaf Community development and applies his theory to the situation in the USA. He hypothesizes five factors: “These factors and their interactions account for the unique social-psychological behavior of Deaf people that resulted in the development of the phenomenon called the Deaf community" (p. 200). The demographic factor refers to a first precondition for the development of a Deaf community, viz. that there is a critical mass, i.e. both in actual numbers ...

  12. Neurotrophin gene therapy for sustained neural preservation after deafness.

    Science.gov (United States)

    Atkinson, Patrick J; Wise, Andrew K; Flynn, Brianna O; Nayagam, Bryony A; Hume, Clifford R; O'Leary, Stephen J; Shepherd, Robert K; Richardson, Rachael T

    2012-01-01

    The cochlear implant provides auditory cues to profoundly deaf patients by electrically stimulating the residual spiral ganglion neurons. These neurons, however, undergo progressive degeneration after hearing loss, marked initially by peripheral fibre retraction and ultimately culminating in cell death. This research aims to use gene therapy techniques to both hold and reverse this degeneration by providing a sustained and localised source of neurotrophins to the deafened cochlea. Adenoviral vectors containing green fluorescent protein, with or without neurotrophin-3 and brain derived neurotrophic factor, were injected into the lower basal turn of scala media of guinea pigs ototoxically deafened one week prior to intervention. This single injection resulted in localised and sustained gene expression, principally in the supporting cells within the organ of Corti. Guinea pigs treated with adenoviral neurotrophin-gene therapy had greater neuronal survival compared to contralateral non-treated cochleae when examined at 7 and 11 weeks post injection. Moreover; there was evidence of directed peripheral fibre regrowth towards cells expressing neurotrophin genes after both treatment periods. These data suggest that neurotrophin-gene therapy can provide sustained protection of spiral ganglion neurons and peripheral fibres after hearing loss.

  13. 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…

  14. 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 ...

  15. Evaluation of Long-Term Cochlear Implant Use in Subjects With Acquired Unilateral Profound Hearing Loss: Focus on Binaural Auditory Outcomes.

    Science.gov (United States)

    Mertens, Griet; De Bodt, Marc; Van de Heyning, Paul

    Cochlear implantation (CI) in subjects with unilateral profound sensorineural hearing loss was investigated. The authors of the present study demonstrated the binaural auditory outcomes in a 12- and 36-month prospective cohort outcome study. The present study aimed to do a long-term (LT) evaluation of the auditory outcomes in an analogous study group. LT evaluation was derived from 12 single-sided deaf (SSD) CI recipients and from 11 CI recipients with asymmetric hearing loss (AHL). A structured interview was conducted with each subjects. Speech perception in noise and sound localization were assessed in a CIOFF and in a CION condition. Four binaural effects were calculated: summation effect (S0N0), squelch effect (S0NCI), combined head shadow effect (SCIN0), and spatial release from masking (SRM). At the LT evaluation, the contribution of a CI or a bone conduction device on speech perception in noise was investigated in two challenging spatial configurations in the SSD group. All (23/23) subjects wore their CI 7 days a week at LT follow-up evaluation, which ranged from 3 to 10 years after implantation. In the SSD group, a significant combined head shadow effect of 3.17 dB and an SRM benefit of 4.33 dB were found. In the AHL group, on the other hand, the summation effect (2.00 dB), the squelch effect (2.67 dB), the combined head shadow effect (3.67 dB), and SRM benefit (2.00 dB) were significant at LT testing. In both the spatial challenging configurations, the speech in noise results was significantly worse in the condition with the bone conduction device compared with the unaided condition. No negative effect was found for the CION condition. A significant benefit in the CION condition was found for sound localization compared with the CIOFF condition in the SSD group and in the AHL group. All subjects wore their CI 7 days a week at LT follow-up evaluation. The presence of binaural effects has been demonstrated with speech in noise testing, sound localization

  16. 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

  17. 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)

  18. 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…

  19. 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…

  20. 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.