Attitudes of deaf adults toward genetic testing for hereditary deafness.

Recent advances within molecular genetics to identify the genes for deafness mean that it is now possible for genetic-counseling services to offer genetic testing for deafness to certain families. The purpose of this study is to document the attitudes of deaf adults toward genetic testing for deafness. A structured, self-completion questionnaire was given to delegates at an international conference on the "Deaf Nation," held at the University of Central Lancashire in 1997. The conference was aimed at well-educated people, with an emphasis on Deaf culture issues. Eighty-seven deaf delegates from the United Kingdom returned completed questionnaires. The questionnaire had been designed to quantitatively assess attitudes toward genetics, interest in prenatal diagnosis (PND) for deafness, and preference for having deaf or hearing children. The results from this study provide evidence of a predominantly negative attitude toward genetics and its impact on deaf people, in a population for whom genetic-counseling services are relevant. Fifty-five percent of the sample thought that genetic testing would do more harm than good, 46% thought that its potential use devalued deaf people, and 49% were concerned about new discoveries in genetics. When asked about testing in pregnancy, 16% of participants said that they would consider having PND, and, of these, 29% said that they would prefer to have deaf children. Geneticists need to appreciate that some deaf persons may prefer to have deaf children and may consider the use of genetic technology to achieve this. Any genetic-counseling service set up for families with deafness can only be effective and appropriate if clinicians and counselors take into consideration the beliefs and values of the deaf community at large.     

Intersecting Cultures in Deaf Mental Health: An Ethnographic Study of NHS Professionals Diagnosing Autism in D/deaf Children

Autism assessments for children who are deaf are particularly complex for a number of reasons, including overlapping cultural and clinical factors. We capture this in an ethnographic study of National Health Service child and adolescent mental health services in the United Kingdom, drawing on theoretical perspectives from transcultural psychiatry, which help to understand these services as a cultural system. Our objective was to analyse how mental health services interact with Deaf culture, as a source of cultural-linguistic identity. We ground the study in the practices and perceptions of 16 professionals, who have conducted autism assessments for deaf children aged 0–18. We adopt a framework of intersectionality to capture the multiple, mutually enforcing factors involved in this diagnostic process. We observed that professionals working in specialist Deaf services, or with experience working with the Deaf community, had intersectional understandings of assessments: the ways in which cultural, linguistic, sensory, and social factors work together to produce diagnoses. Working with a diagnostic system that focuses heavily on ‘norms’ based on populations from a hearing culture was a key source of frustration for professionals. We conclude that recognising the intersectionality of mental health and Deaf culture helps professionals provide sensitive diagnoses that acknowledge the multiplicity of D/deaf experiences.     

Waardenburg syndrome in the Turkish deaf population

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.     

Reconsidering cochlear implants: the lessons of Martha's Vineyard

I distinguish and assess three separate arguments utilized by the opponents of cochlear implants: that treating deafness as a medical condition is inappropriate since it is not a disability; that so treating it sends a message to the Deaf that they are of lesser worth; and that the use of such implants would signal the end of Deaf culture. I give some qualified support to the first and second claim, but find that the principal weight of the argument must be borne by the third argument: that use of the cochlear implants is impermissible because Deaf culture is intrinsically valuable. I show that this claim is, in practice, incompatible with the claim that deafness is not a disability: that the significant disadvantages suffered by the hearing impaired can only be corrected by measures that would end Deaf culture. Since the potential recipients of cochlear implants are, in the main, the prelingually deaf children of hearing parents, the burden of banning the implants would be borne by people who are not members of Deaf culture, and who owe that culture nothing over and above what we all owe cultures in general. I conclude that we cannot ask the parents of these children to sacrifice the interests of their children for the sake of Deaf culture.     

Assortative mating and grandparental transmission facilitate the persistence of a sign language.

Conditions for the persistence (i.e., protection from loss) of a sign language are investigated assuming monogenic recessive inheritance of deafness, assortative mating for deafness or hearing, and cultural transmission of the sign language to deaf individuals from their deaf parents and deaf maternal grandparents. A new method is introduced to deal with the problem of grandparental transmission in which the basic variables are the frequencies of triplets comprising a mother, a father, and their daughter of permissible phenogenotypes. Usual stability analysis is then done on the system of linear recursions in the frequencies of these triplets, derived on the assumption that signers (users of the sign language) are rare. It is shown that assortative mating is the most important factor contributing to persistence, but that grandparental transmission can also have a significant effect when assortment is as strong as observed in England and the United States.     

Writing failure: knowledge production,temporalities, ethics,and traces

This volume follows failures out into the world, exploring how they unfold ethnographically. Taking a longer view shows how objects, narratives, and diagnoses of failures may be crafted, acted on, suffered, resisted – unmade or recomposed. Thus while tropes and diagnoses of failure can temporarily (re)organize, narrate, and stabilize the world, the kinds of failures explored here also indicate a mode of uncontainable excess that refuses the boundedness of knowledge objects, temporalities, and spaces. This volume offers three main interventions. The first concerns knowledge production: how objects of failure are crafted through selective ways of knowing that occlude both other modes of apprehension at different scales and failure's many affective valences. The second thinks through the knotted temporalities – whether pasts, futures, suspended presents, or repetition and sedimentation – that make and are made by failure. Finally, writing about unfurling failures requires careful attention to non-linear reverberations and traces as well as to open-ended and mobile narratives that produce different social and material effects.     

Visual advantage in deaf adults linked to retinal changes

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.     

Parental attitudes toward genetic testing for pediatric deafness

Recent molecular genetic advances have resulted in genetic testing becoming an option for deaf individuals and their families. However, there is little information about the interest in such testing. To investigate this issue, parents with normal hearing who have one or more deaf children were surveyed about their attitudes toward diagnostic, carrier, and prenatal genetic testing for deafness. This population was chosen because it represents the majority of individuals who are encountered in clinical practice, given that 90%-95% of deaf individuals are born to persons with normal hearing. Of 328 surveys distributed, 96 were completed and returned. Of the respondents, 96% recorded a positive attitude toward genetic testing for deafness, including prenatal testing, although none would use this information to terminate an affected pregnancy. All respondents had a poor understanding of genetics, with 98% both incorrectly estimating the recurrence risk of deafness and misunderstanding the concept of inheritance. Notably, these findings were similar in the group who had had genetic testing for their children and in the group who had not, suggesting either that the parents who received genetic testing did not receive genetic counseling or that the counseling was not effective. On the basis of these results, it was concluded that this population is interested in the use of genetic testing and that testing should not be done without first providing formal genetic counseling. Appropriate counseling can help parents to understand the risks, benefits, and limitations of genetic testing.     

Senses,Sociality and Salons: Medicinal Hospitality in a Chinese Hair-Dresser's Salon

Recent calls for a revitalisation of the study of hospitality as central to anthropological theory have focussed on the material, affective, moral and cosmological aspects of hospitality. This paper argues that any such theory of hospitality should also afford consideration of how hosting practices can also be a form of medicinal experience, showing how in a Chinese hair salon these experiences ricochet into ideas of well-being by drawing on discourses and practices that are grounded in Traditional Chinese Medicine. This paper argues for an understanding of the dispersed and diffused nature of Chinese medicinal practices and concepts throughout society, while still taking into account the specificities and logics of the Chinese medical tradition. The concept of ‘medicinal hospitality’ helps to understand the social nature of these ostensibly medical treatments, and how they use the creation of distinct sensory experiences which are shared between groups of customers to generate social relations.     

Beyond the Range of Sound—The Non-Otological Aspects of Deafness

Historically, deaf persons were seen as less than human — as “beasts of the field” who could not speak and thus had no legal rights. With educational advances, both the achievements of deaf individuals and the attitudes of the hearing world toward them have improved. However, the total scope of impairment of early profound deafness remains considerable despite vast advances in the fields of medicine, audiology and education. Traumatic parental reaction to the diagnosis and distorted parent-child communication may contribute to the impairment. Recent research has added to our knowledge of the social and psychiatric ramifications of deafness, but a lack of mental health professionals capable of communicating with deaf persons retards progress in this area.     

Examining Interactions across Language Modalities: Deaf Children and Hearing Peers at School

Deaf youth easily become communicatively isolated in public schools, where they are in a small minority among a majority of hearing peers and teachers. This article examines communicative strategies of deaf children in an American "mainstream " school setting to discover how they creatively manage their casual communicative interactions with hearing peers across multimodal communicative channels, visual and auditory. We argue that unshared sociolinguistic practices and hearing-oriented participation frameworks are crucial aspects of communicative failure in these settings. We also show that what look like "successful" conversational interactions between deaf and hearing children actually contain little real language and few of the complex communication skills vital to cognitive and social development. This study contributes to understanding the social production of communicative isolation of deaf students and implications of mainstream education for this minority group.     

Visual Word Recognition in Deaf Readers: Lexicality Is Modulated by Communication Mode

Evidence indicates that adequate phonological abilities are necessary to develop proficient reading skills and that later in life phonology also has a role in the covert visual word recognition of expert readers. Impairments of acoustic perception, such as deafness, can lead to atypical phonological representations of written words and letters, which in turn can affect reading proficiency. Here, we report an experiment in which young adults with different levels of acoustic perception (i.e., hearing and deaf individuals) and different modes of communication (i.e., hearing individuals using spoken language, deaf individuals with a preference for sign language, and deaf individuals using the oral modality with less or no competence in sign language) performed a visual lexical decision task, which consisted of categorizing real words and consonant strings. The lexicality effect was restricted to deaf signers who responded faster to real words than consonant strings, showing over-reliance on whole word lexical processing of stimuli. No effect of stimulus type was found in deaf individuals using the oral modality or in hearing individuals. Thus, mode of communication modulates the lexicality effect. This suggests that learning a sign language during development shapes visuo-motor representations of words, which are tuned to the actions used to express them (phono-articulatory movements vs. hand movements) and to associated perceptions. As these visuo-motor representations are elicited during on-line linguistic processing and can overlap with the perceptual-motor processes required to execute the task, they can potentially produce interference or facilitation effects.     

Mortal exposure: on the goodness of writing medical ethics

Abstract:Narrative ethics has recently been advanced as an alternative to more "principled" and "theoretical" approaches to medical ethics. This turn prompts reflection on the distinctive activity of writing medical ethics. When writing medical ethics is recognized as a distinct activity, the forms of care it accomplishes can be distinguished from medical care. This distinction enables analysis of how caring for one's own needs as a writer of medical ethics is in productive tension with the ends of caring in medicine. One important good of writing medical ethics is that the act of writing forces one to reflect on the common mortal reality that is a condition of medical experience. Because it provides occasions for reflection on one's own mortality, medical ethics may no longer need immediate medical application in order to claim its contribution to caring.     

Recessive hereditary deafness, assortative mating, and persistence of a sign language

We model the cultural transmission of sign language when there is one-locus genetic variation for deafness and hearing. Our premises are that the deaf are more motivated to learn sign language than the hearing, and that a vertically transmitted sign language, unlike recessive hereditary deafness, cannot "jump a generation." Conditions are obtained for persistence (i.e. protection from loss) of signers. These conditions are more easily satisfied the greater the fraction of the hearing who also learn sign language and as the frequency of the recessive gene for deafness increases. Persistence is also facilitated by assortative mating for deafness, but not by assortment for signing. With vertical transmission only, it is necessary that one signer parent be able to transmit sign language with greater than one-half the efficiency of two. Under the assumption that the hearing do not learn sign language, the following additional results are obtained. Persistence is more likely with dominant as opposed to recessive inheritance. When recessive hereditary and acquired deafness co-occur, increasing the frequency of the latter has opposite effects depending on the degree of assortment. Opportunities for the deaf to learn sign language outside the family seem not to affect the conditions for persistence.     

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

Background

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.

Methodology/Principal Findings

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 speckling. Fine mapping was then performed on 45 of these 50 dogs and a further 48 dogs (n = 93). Sequencing candidate gene Sox10 in 6 hearing ASCD, 2 unilaterally deaf ASCD and 2 bilaterally deaf ASCD did not reveal any disease-associated mutations.

Conclusions

Deafness in ASCD is an incompletely penetrant autosomal recessive inherited disease that maps to CFA10.     

Like one of the family: race,ethnicity, and the paradox of US national identity

The tensions between individual rights promised to US citizens and group discrimination targeted against African Americans and similar racial/ethnic groups constitute one enduring paradox of US society. This essay examines this paradox by exploring how a gendered family rhetoric contributes to understandings of race and US national identity. Using African American women's experiences as a touchstone for analysis, the article suggests that African American women's treatment as second-class citizens reflects a belief that they are 'like one of the family', that is, legally part of the US nation-state, but simultaneously subordinated within it. To investigate these relationships, the article examines 1) how intersecting social hierarchies of race and ethnicity foster racialized understandings of US national identity; 2) how the gendered rhetoric of the American family ideal naturalizes and normalizes social hierarchies; and 3) how gendered family rhetoric fosters racialized constructions of US national identity as a large national family.     

A threshold model analysis of deafness in Dalmatians

To elucidate the inheritance of deafness in Dalmatian dogs, 825 dogs in 111 litters were evaluated for abnormalities in hearing through the brainstem auditory evoked response (BAER). Recorded along with their quality of hearing (normal, unilaterally deaf, or bilaterally deaf) were the sex, coat color, eye color and the presence or absence of a color patch. The analysis considered deafness an ordered categorical trait in a threshold model. The underlying, unobservable continuous variate of the threshold model was assumed to be a linear function of sex of dog, coat color (black or liver and white), color patch (presence or absence), eye color, the deafness phenotype of the parents and a random family effect. Twenty-six percent of dogs were deaf in at least one ear. Eye color, color patch, sex and the hearing status of the parents were all significant contributions to deafness. The heritability of deafness, on the continuous unobservable scale, was 0.21. This value was computed after correction for eye color, color patch, parental hearing status and sex, implying that significant genetic variation exists beyond the contribution of several single loci. Received: 15 February 1996 / Accepted: 11 June 1996     

High theory/mass markets: Newsweek magazine and the circuits of medical culture

Medicine is driven by much more than science and reason (ethics); it is also driven by the circuits of culture within which it operates. This article examines how postmodern theory deconstructs standard ideals of science and reason and allows medical humanities scholars to better contextualize the world of medicine. As such, postmodern theory provides an invaluable tool for understanding the circuits of popular culture and medicine's place within these circuits. Using a recent issue of Newsweek magazine devoted to health and technology to illustrate the main points, this essay argues that contemporary popular influences on medicine are deeply problematic, and that through an appreciation of the dynamics of culture, medical humanities scholars can join the struggle over medical culture. This perspective allows medical humanities to make important contributions toward alternative circuits of medical representation, consumption, and identification.