History Of Deafness Research Articles

Factors Affecting Age of Diagnosis and Rehabilitation Intervention in Children Receiving Cochlear Implant

Background and Objective: Age of cochlear implantation (CI) is an important factor for restoring normal auditory processing and different language skills so that early diagnosis of hearing loss significantly influences the rate of developmental skills in these children. The present study aimed to investigate different factors affecting the age of hearing loss diagnosis and CI in children with hearing loss. Methods: This was a descriptive cross-sectional trial conducted on the children with hearing loss that underwent CI (n=252) in the Khuzestan Cochlear Implant center, Ahvaz, Iran during 2012 to 2015. The demographic data of children and parents, age of diagnosis, application of hearing aid, and rehabilitation therapy were collected through a questionnaire during the regular visits of the patients. The data were analyzed using statistical package SPSS (Windows, version 18).The normality of data and homogeneity of variances were evaluated through Kolmogorov-Smirnov and Leven tests, respectively. Then, T-test was used to evaluate the statistically significance of the difference and Pearson correlation coefficient to determine the relationship between the quantitative variables. Results: The mean age of diagnosis was 10.7 months (range 0.1 to 60 months). Of 252 patients, 131 (52%) were male and 121 (48%) were female (p=0.98) and 123 patients (50.2%) had a positive family history of hearing loss or deafness (p<0.0001). In addition, 17 patients (6.9%) had a favorable economic status, while 96 (38.9%) had a moderate and 134 (53.2%) a low economic status. Interestingly, 78.8% of the deaf children were from parents of consanguineous marriages, and 12.2% from non-consanguineous unions. Of the six studied variables, only family history and family relationship variables showed significant relationship with age of diagnosis of hearing loss. Conclusion: Providing comprehensive basic information and increased awareness may help all parents, even those with low socioeconomic status and educational level, to detect hearing loss in their newborns as early as possible. This approach could prevent the consequent adverse effects of hearing loss on psychological, social, and social dimensions as well as on educational achievement in childhood.

Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome.

Objective(s):Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome.Materials and Methods:Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient and the family members were screened for mutations in KCNQ1 gene by linkage analysis and DNA sequencing.Results:DNA sequencing showed a c.1532_1534delG (p. A512Pfs*81) mutation in the KCNQ1 gene in homozygous form. The results of short tandem repeat (STR) markers showed that the disease in the family is linked to the KCNQ1 gene. The mutation was confirmed in the parents in heterozygous form.Conclusion:This is the first report of this variant in KCNQ1 gene in an Iranian family. The data of this study could be used for early diagnosis of the condition in the family and genetic counseling.

The Deaf History and Historical Linguistics for Sign Language with Whale’s- and Flounder’s-Eye Views

The Deaf History and Historical Linguistics for Sign Language with Whale’s- and Flounder’s-Eye Views

Analysis on occupational noise-induced hearing loss of different type workers in underground mining

Objective: To investigate hearing loss status of blasters, drillers mechanics and so on in underground mining, and put forward suggestion diagnosis of occupational explosive deafness and occupational deafness. Methods: Underground excavation workers in a metal mine were recruited in this study, those with a history of ear disease and non-occupational deafness were all excluded. Finally, the features of pure tone audiometry of 459 noise-exposed workers were analyzed. Results: High-frequency hearing loss occurred on 351workers and the positive detection rate was 74.29%, workers who had both high-frequency and linguistic frequency hearing loss were 51 and the positive detection rate was 11.11%. The positive detection of high-frequency hearing loss in right ear (χ(2)=9.427 and P= 0.024) and in left ear (χ(2)=14.375, P=0.002) was significantly different between different exposure age groups. The positive detection of high-frequency hearing loss of driving group was the highest, followed by blasting group, mining group and machine repair group. The characteristics of the hearing loss caused by drilling noise of the blasting workers with no accident occurred were in line with that of noise-induced hearing loss. Conclusion: The diagnosis grading should be carried out according to the diagnostic criteria of occupational noise-induced deafness for the employees who engaged in the blasting operation with no record of blast accident.

Simultaneous CMV Colitis and Kayexalate-Induced Ulcer Presenting as Hematochezia

We present a rare case of hematochezia caused by 2 concurrent ulcers caused by different etiologies: CMV and Kayexalate (sodium polystyrene). A 66 year old man with history of deafness and HCV cirrhosis with prolonged hospitalization from a motor-vehicle accident had multiple episodes of hematochezia with a resultant decrease in hemoglobin from 8.2mg/dL to 5.3mg/dL. Colonoscopy was performed, which showed two relatively isolated ulcers located in the transverse colon and in the rectum. The remainder of the colonic mucosa, however, was normal. Both ulcers were biopsied for pathology. Surprisingly, the rectal ulcer demonstrated findings of crystal-like structures suggestive of Kayexalate crystals, while the transverse ulcer stained positive for CMV on viral immunohistochemistry stains. Upon review of the patient's chart, he received 2 separate doses of Kayexalate 5 days prior and immediately prior to endoscopy for transient hyperkalemia due to acute renal failure. He did not have diarrhea or increased number of bowel movements prior to colonoscopy. There was no obvious evidence of immunodeficiency or compromise. He was started on gancyclovir for his CMV colitis and Kayxelate was no longer used during his hospitalization. The patient subsequently did well with no further hematochezia. There are a number of cases that describe ulcers caused by Kayexalate, however, simultaneous infection with CMV has not been reported. Rare causes of hematochezia can be missed if the entire colon is not examined. Obtaining a biopsy of each ulcer should be considered because management can change depending on pathology results. Careful review of medications and associated medical conditions can help broaden the suspected differential diagnosis during cases.Figure: Transverse colon ulcer.Figure: Kayexalate crystal from rectal ulcer biopsy.

The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population

BackgroundMutations in GJB3 were originally shown to underlie an autosomal dominant form of non-syndromic deafness in Chinese patients and the c.538C>T (p.R180*) variants caused high-frequency hearing loss. But after that, few reports have reported this mutation. This study investigated the relationship between the GJB3 c.538C>T variant and hearing phenotype in Chinese to assist with risk assessment and genetic counseling for hearing loss patients and their families. MethodThe study enrolled 5700 patients with hearing loss and 4600 normal subjects. Deafness gene mutations were distinguished using a gene chip. The GJB3 c.538C>T variant rate was calculated from the results. ResultOf the 5700 patients, 23 (0.40%) carried a GJB3 c.538C>T heterozygous variant; of these, 11 patients had other gene (GJB2/SLC26A4) mutations simultaneously. Most patients had moderate to profound hearing loss. All 23 patients were sporadic cases and had no family history of deafness. Of the 4600 normal individuals, 11 (0.24%) had GJB3 c.538C>T heterozygous variant. There was no statistical difference in incidence between the two groups. ConclusionsOur results showed that the GJB3 c.538C>T variant has a very low incidence in the Chinese population, and there was no clear evidence to support a role of the GJB3 c.538C>T variant in the autosomal dominant form of non-syndromic deafness. Our findings suggested that GJB3 c.538C>T does not contribute to hearing loss, and this conclusion will assist with genetic counseling and risk prediction for deafness related to the GJB3 c.538C>T variant.

Optical coherence tomography angiography of the peripapillary retina and optic nerve head in Wolfram syndrome

PurposeTo evaluate the peripapillary and optic nerve head (ONH) microcirculation in patients affected by Wolfram syndrome and to correlate the results with the functional and anatomical conventional imaging: visual field (VF) and structural optical coherence tomography (OCT).MethodsThis study reports two cases of siblings with wolfram syndrome. They underwent a complete ophthalmological examination and an automated perimetry. A measure of peripapillary retinal nerve fiber layer (RNFL) thickness using a Swept‐ Source OCT was performed. Optical coherence tomography angiography (OCT‐A) images were obtained using a Swept‐Source DRI OCT Triton (Topcon Corporation, Japan). The scan size of optic disc area was 6 mm × 6 mm and he was divided into four layers, which were optic nerve head (ONH), vitreous, radial peripapillary capillary (RPC), and choroid layers. Peripapillary and nerve head vessels density were evaluated.ResultsThe first case is a 57 years old female patient with a history of diabetes insipidus and deafness, suffering from bilateral progressive visual loss. On fundoscopic examination, she had bilateral optic atrophy. Her visual acuity was reduced to 0.4 on both eyes. Her visual fields demonstrated generalized constriction. There was a family history of similar conditions. Her brother, a 46 years old male has a similar course of disease. The two patients had sectorial (temporal and inferior) optic atrophy based on the RNFL thinning detected by OCT. OCT‐A scans showed a decrease of the vascular network in the ONH and in the RPC layers corresponding to the sector of RNFL thinning.ConclusionsPeripapillary and optic nerve head temporal and inferior microvascular network were reduced in Wolfram patients. These findings confirm the preferential involvement of the small axons of the papillomacular bundle in dominant optic atrophy.

A DEAF BODY: OPPRESSION AND RESISTANCE IN A BRAZILIAN PERSPECTIVE

&lt;p&gt;Deafness, legal rights, language, teaching and learning are topics strictly related to deaf life and wellbeing.&lt;br /&gt;This article aims to discuss the history of deafness and some teaching proposals using Brazil and a&lt;br /&gt;Brazilian Institute of Deaf Education in a study case. On that purpose we analyzed didactic and scientific&lt;br /&gt;materials and their influence on Brazilian deaf education. Thus, we focused on the deaf speech also&lt;br /&gt;approaching pathology and epistemology perspectives present in the narratives of the institute curriculum,&lt;br /&gt;questioning these representations. Historical aspects in the educational, pathological and epistemological&lt;br /&gt;approaches in Brazil are also reported including different language teaching perspectives including&lt;br /&gt;bimodalist, total communication and bilingualism. Our study observed the importance of deaf political&lt;br /&gt;movement and their struggle to guarantee the right for a good and long-awaited dreamed bilingual&lt;br /&gt;education&lt;/p&gt;

Switched at Birth: A Game Changer for All Audiences

Switched at Birth: A Game Changer for All Audiences

Review of In Our Own Hands: Essays in Deaf History 1780-1970

No abstract available.

Comparative Study of Autologous Ossicular Graft versus Titanium Prosthesis (TORP &amp; PORP) in Ossiculoplasty

Introduction&#x0D; This prospective cohort study aims to analyze and compare the outcomes of ossiculoplasty in terms of hearing results, intra and post operative course, using autograft incus and titanium middle ear prosthesis.&#x0D; Materials and Methods&#x0D; Patients with a history of chronic ear discharge and conductive deafness were included in the study. Out of 21 patients with ossicular chain defect included in the study, 10 patients underwent ossiculoplasty with autograft incus and 11 with titanium prosthesis. Pure tone audiogram was done after three months.&#x0D; Result&#x0D; In patients with incus ossiculoplasty, average Post operative PTA was 43.5 dB ± 7.934SD and Net gain in hearing was 10.7 decibels ± 15.478SD. In patients with titanium prosthesis ossiculoplasty, average Post operative PTA was 41.4 dB ± 4.789SD and Net gain in hearing was 16 decibels ± 11.981SD.&#x0D; Discussion &#x0D; Three patients underwent only Tympanoplasty post operative PTA was 42 ± 5.292 dB (incus- 39 dB, titanium- 48dB) and hearing gain was 13.33 ± 12.583 (incus-20dB, titanium-0dB). Five patients underwent intact canal wall with Tympanoplasty: Post operative PTA was 35 ± 3 dB (incus-35dB, titanium-30dB) and hearing gain was 23 ± 15.379 (incus-18.33dB, titanium-30dB). Thirteen patients underwent canal wall down procedure with Tympanoplasty: Post operative PTA was 45.67 ± 5.228 dB (incus-50.4dB, titanium-41.8dB) and hearing gain was 9.33 ± 12.309 (incus-2.4dB, titanium-14.285dB). Complications in the short period studied were nil in both groups.&#x0D; Conclusion &#x0D; Incus and titanium have equal postoperative hearing but in terms of hearing gain Titanium prosthesis gave a better hearing gain than incus.

Diabetes, deafness and renal disease.

Deafness, kidney disease and diabetes are not a usual association, neither is a family history of these diseases. We present the case of a 47-year-old woman with non-nephrotic proteinuria, no haematuria, normal renal function, sensorineural hearing loss, recently diagnosed diabetes and maculopathy. There was a maternal family history of deafness, diabetes and renal disease. Renal biopsy revealed focal and segmental glomerulosclerosis (FSGS), leading to the pursuit of an m.3243A > G mitochondrial mutation and diagnosis of maternally inherited diabetes and deafness. The association of FSGS with mitochondrial diseases is not well known among nephrologists. Its timely diagnosis is important to avoid exposure to ineffective and unnecessary immunosuppression.

It’s a Small World: International Deaf Spaces and Encounters. Michele Friedner and Annelies Kusters, eds. Washington, DC: Gallaudet University Press, 2015, 336 pp. $70.00, cloth. ISBN 978-1-56368-653-5.

<i>It’s a Small World: International Deaf Spaces and Encounters</i>. Michele Friedner and Annelies Kusters, eds. Washington, DC: Gallaudet University Press, 2015, 336 pp. $70.00, cloth. ISBN 978-1-56368-653-5.

Deaf people's help-seeking following trauma: Experiences with and recommendations for the Massachusetts behavioral health care system.

Deaf trauma survivors are one of the more underserved populations in behavioral health care and experience significant obstacles to seeking help. Repeated encounters with these barriers fuel negative perceptions and avoidance of behavioral health treatment. The current study sought to explore Deaf trauma survivors' help-seeking experiences and elicit their recommendations for improving Deaf behavioral health services in Massachusetts. We conducted semistructured American Sign Language interviews with 16 trauma-exposed Deaf individuals that included questions from the Life Events Checklist and the PTSD Symptom Scale Interview and questions about Deaf individuals' help-seeking behaviors. Qualitative responses regarding help-seeking experiences were analyzed using a grounded theory approach. In the aftermath of trauma, our participants emphasized a desire to work with a signing provider who is highly knowledgeable about Deaf culture, history, and experience and to interact with clinic staff who possess basic sign language skills and training in Deaf awareness. Most stressed the need for providers to better outreach into the Deaf community-to provide education about trauma, to describe available treatment resources, and to prove one's qualifications. Participants also provided suggestions for how behavioral health clinics can better protect Deaf survivors' confidentiality in a small-community context. Deaf-friendly trauma treatment should incorporate the components of trauma-informed care but also carefully consider key criteria expressed by our participants: direct signed communication, understanding of Deaf history and experience, stringent practices to protect confidentiality, provider visibility in the community, and reliance on peer support and Deaf role models in treatment interventions. (PsycINFO Database Record

Deaf Studies, Oral Tradition, and Old English Texts

Building from past work in oral theory that has productively nuanced notions of literacy and orality as multi-faceted and deeply interconnected concepts, this essay calls for an equally complex model for our understanding of the hearing experience itself, focusing in particular on Anglo-Saxon England. To this end, relevant approaches emerging from medieval studies, studies in oral tradition, and — most importantly — Deaf studies are triangulated with the goal of more fully understanding the scant and often cryptic clues that survive to us in such places as law codes, medical texts, literature, and archeological records. Scholars in Deaf studies have long applied interpretive models from oral theory to analyze the cultural expressivity of signed storytelling; the influence of Deaf studies, however, has yet to be fully felt in the fields of oral theory or Anglo-Saxon studies. Opening a dialogue across disciplines can help counteract the potential for audism inherent in “oral” tradition studies, and focusing more sharply on a specific region and period effectively complicates the history of deafness in pre-modern eras. Most importantly, close attention to Deaf studies opens awareness to categories of “hearing” and “deafness” as they were socially constructed in the early medieval world.

The SAGE Deaf Studies Encyclopedia ed. by Genie Gertz and Patrick Boudreault

The SAGE Deaf Studies Encyclopedia, ed. Genie Gertz and Patrick Boudreault (Los Angeles: SAGE, 2016, 1,128 pages)pah! Finally, a compendium has been published documenting, within a single source, scholarly knowledge exclusively about Deaf people. Editors Genie Gertz and Patrick Boudreault, their editorial board, and their many contributors and consultants have created a valuable reference that impressively substantiates Deaf studies as a well-developed scholarly discipline. It also compellingly documents the lives of Deaf people as an integral part of the tapestry of both US and world history.The publication of the SAGE Deaf Studies Encyclopedia comes at an opportune time, given the emergence in recent years of numerous undergraduate and graduate programs incorporating topics such as Deaf history, culture, art, literature, and linguistics into their academic curricula. Furthermore, it has been nearly thirty years since a comparable publication, The Gallaudet Encyclopedia of Deaf People and Deafness, edited by JohnV.Van Cleve, was published. Since that time, numerous new developments have occurred in diverse disciplines such as public policy, technology, sign language research, and Deaf rights activism. Furthermore, the ways in which Deaf people currently engage in scholarly discourse about themselves as a distinct cultural and linguistic group encompass multidisciplinary perspectives and is international in scope.The availability of the SAGE Deaf Studies Encyclopedia is also timely, given that one of its ultimate aims is to facilitate the use of more contemporary perspectives and analytical frameworks for talking about and understanding Deaf people and their place in society. In that regard, among the appealing features of the publication are the Deafcentric perspectives exemplified in the various entries.Readers will readily note that the SAGE Deaf Studies Encyclopedia is voluminous. It comprises more than 330 entries spread across 1,070 pages that are organized into three volumes. For scholars and students with extensive knowledge of and involvement in the field of Deaf studies, navigating through the encyclopedia will be a worthwhile and enlightening journey. On the other hand, for those who may be new to or have only rudimentary knowledge of the myriad of topics germane to the field of Deaf studies, navigating through the encyclopedia may be a daunting task. Fortunately, the editors provide some helpful features for both those with extensive knowledge of Deaf studies and those who may have only minimal knowledge of the field.One of the helpful features is the availability of a reader's guide on pages xi-xv in volume 1, which organizes the 330-plus entries into twenty-four major areas. A second helpful feature is an index at the end of volume 3, which provides the entry titles and their volume and page numbers to facilitate the reader's search for topics of interest. A third helpful feature is the use of cross-references to related topics, which are listed at the end of each entry. This feature encourages exploration of diverse perspectives on topics with comparable themes.Additionally, in promotional materials by SAGE Publications announcing the launch of the new encyclopedia, the editors identified four goals for the reference work: (1) to chronicle the exponential growth in the quality of Deaf individuals' lives; (2) to document the history and stories of Deaf lives that are furthering the advancement of Deaf people; (3) to document the countless ways in which the Deaf experience is enhanced by the scholarship of Deaf studies; and (4) to locate Deaf studies as a key field within the broader, formalized area of minority studies. …

A case report on ATP6V0A4 gene mutation: Forecast of familial deafness by genetic investigation in a patient with autosomal recessive distal renal tubular acidosis

The autosomal recessive form of distal renal tubular acidosis (dRTA), a condition associated with the systemic accumulation of acid owing to its reduced elimination through kidneys, is caused by ATP6V0A4 mutation, which is typically related to either late-onset sensorineural hearing loss (SNHL) or normal hearing. This article reports dRTA in seven year old boy, born to a Chinese couple who have family history of deafness. The patient does not have hearing impairment. ATP6V0A4 gene sequencing demonstrated that there were 2 heterozygous mutations, c.1376C&gt;T and c.1029+5G&gt;A, in gene ATP6V0A4. c.1376C &gt; T (p.Ser459Phe) is a kind of missense mutation in gene ATP6V0A4. c.1029+5G&gt;A is a kind of intragenic mutation near the cutting area of gene ATP6V0A4. ATP6V0A4 gene mutation study substantiated the autosomal recessive dRTA without hearing impairment in the patient. This case report emphasizes the significance of early diagnosis and genetic screening of recessive forms of dRTA independent of hearing status and offer suitable intervention to treat dRTA as well as diminish the influence of SNHL on the child’s learning and communication in daily life.Keywords: Renal tubular acidosis, Homeostasis, Electrolytes, Hearing impairment, ATP6V0A4 gene, Mutation

Brian H. Greenwald and Joseph J. Murray, editors. In Our Own Hands: Essays in Deaf History, 1780–1970 .

Journal Article Brian H. Greenwald and Joseph J. Murray, editors. In Our Own Hands: Essays in Deaf History, 1780–1970. Get access Brian H. Greenwald and Joseph J. Murray, editors. In Our Own Hands: Essays in Deaf History, 1780–1970. Washington, D.C.: Gallaudet University Press, 2016. Pp. xvii, 270. $39.95. The American Historical Review, Volume 121, Issue 5, December 2016, Page 1794, https://doi.org/10.1093/ahr/121.5.1794 Published: 05 December 2016

Auditory toxicity in late preterm and term neonates with severe jaundice.

Jaundice may cause auditory toxicity (auditory neuropathy and hearing loss). However, total serum bilirubin (TSB) does not discriminate neonates at risk for auditory toxicity. We compared TSB, bilirubin:albumin molar ratio (BAMR), and unbound bilirubin for their association with auditory toxicity in neonates with severe jaundice (TSB ≥342μmol/L, or that met exchange transfusion). Neonates greater or equal to 34 weeks gestational age with severe jaundice during the first 2 postnatal weeks were eligible for prospective cohort study, unless they had craniofacial malformations, chromosomal disorders, toxoplasmosis, other infections, rubella, cytomegalovirus, herpes simplex infections, surgery, or family history of congenital deafness. Twenty-eight out of 100 neonates (mean gestational age 37.4wks; 59 males, 41 females) had auditory toxicity. Peak unbound bilirubin, but not peak TSB and BAMR, was associated with auditory toxicity (p<0.05) in neonates with severe (TSB <427.5μmol/L) and extreme hyperbilirubinemia (TSB ≥427.5μmol/L). Area under the receiver operating characteristic curve for unbound bilirubin (0.78) was significantly greater (p=0.03) than TSB (0.54) among neonates with severe but not extreme hyperbilirubinemia. Unbound bilirubin is more strongly associated with auditory toxicity than TSB and/or BAMR in greater or equal to 34 weeks gestational age neonates with severe jaundice. Unbound bilirubin is a better predictor than TSB in neonates with severe hyperbilirubinemia.

Attitudes toward carrier screening and prenatal diagnosis for recessive hereditary deafness among the educated population in urban China.

Approximately 80% of hereditary deafness is recessive, in which case most mutation carriers were unaware of their carrier status. Though parental attitudes toward genetic testing and prenatal diagnosis are overall positive in those with deaf children, there is little information about that in the general population. To this end, we designed a self-completed questionnaire and distributed it in two colleges in Shanghai, China. A total of 975 completed surveys were returned in print or online forms. Our results showed that 98.7% of the respondents without family history of early onset deafness did not know or underestimated their likelihood to carry a recessive mutation in common deafness genes. After brief written information was given using GJB2, the most common recessive deafness gene as the example, 67.7% of the respondents expressed interest in knowing if they are carriers of GJB2 mutations through genetic testing. In hypothetical circumstance of carrying a recessive GJB2 mutation, 86.9% would suggest their partners to also take the test. In case that both were carriers, 88.7% would consider prenatal diagnosis and 80.7% would consider terminating an affected pregnancy. On the basis of these results, it was concluded that despite the poor awareness to the risk of recessive hereditary deafness, the majority of the educated population in urban China likely hold a positive view toward carrier screening and prenatal diagnosis of recessive deafness genes. © 2016 Wiley Periodicals, Inc.