Examining the Relationship Between Genetic Counselors’ Attitudes Toward Deaf People and the Genetic Counseling Session

Given the medical and cultural perspectives on deafness it is important to determine if genetic counselors’ attitudes toward deaf people can affect counseling sessions for deafness genes. One hundred fifty-eight genetic counselors recruited through the National Society of Genetic Counselors Listserv completed an online survey assessing attitudes toward deaf people and scenario-specific comfort levels discussing and offering genetic testing for deafness. Respondents with deaf/Deaf friends or who work in prenatal or pediatric settings had more positive attitudes toward deaf people than those without deaf/Deaf friends or those working in ‘other’ settings. More positive attitudes toward deaf people correlated with higher comfort level talking about genetic testing for the two scenarios involving culturally Deaf clients; and correlated with higher comfort level offering genetic testing to culturally Deaf clients wishing to have a deaf child. Attitudes and comfort level were not correlated in the scenarios involving hearing or non-culturally deaf clients. These results suggest that genetic counselors’ attitudes could affect information provision and the decision making process of culturally Deaf clients. Cultural sensitivity workshops in genetic counseling training programs that incorporate personal interactions with culturally Deaf individuals are recommended. Additional suggestions for fostering personal interactions are provided.     

Consumer Motivations for Pursuing Genetic Testing and their Preferences for the Provision of Genetic Services for Hearing Loss

Genetic services for deafness are being increasingly sought due to the introduction of early hearing detection and intervention programs, as well as the rapid progress in the identification of deafness genes. This study aimed to assess the motivations of consumers for pursuing genetic testing as well as their preferences for provision of these services. We conducted 5 focus groups consisting of hearing parents of deaf children, deaf parents, and unmarried deaf adults. Motivations for pursuing genetic testing included determining the etiology, helping to alleviate the guilt associated with the diagnosis of hearing loss in a child, and acquiring information to help them and other family members prepare for the future. Most participants thought that a genetic counselor/geneticist would be the most appropriate professional to provide genetics services. For culturally Deaf individuals, the communication method was seen as more important than the type of professional. Parents preferred that genetic evaluation, including testing, occur either immediately at or a few months after the audiologic diagnosis of hearing loss.     

Culture and empowerment in the Deaf community: An analysis of internet weblogs

Although deafness is traditionally conceptualized as a medical problem or disability, about 500 000 deaf people in the United States identify as members of an ethno‐linguistic minority that takes pride in being Deaf. This study examined 416 Internet weblog posts authored by nine Deaf bloggers to describe aspects of Deaf culture and individual and community level empowerment strategies expressed in weblogs. Results highlight aspects of American Deaf culture, such as the value placed on American Sign Language and equal treatment of D/deaf and hearing people. Findings also provide evidence of expressions of Deaf culture such as the use of humour and supporting the community that have been less emphasized in previous literature. Community level empowerment strategies evident in posts included disseminating information, rallying the involvement of members and advocating for social justice. Overlap between expressions of Deaf culture and empowerment strategies were also found. Present results inform a growing literature on empowerment strategies that occur without intervention by professionals. Implications of the study for community research and action are discussed. Copyright © 2011 John Wiley & Sons, Ltd.     

Provision of Genetic Services for Hearing Loss: Results from a National Survey and Comparison to Insights Obtained from Previous Focus Group Discussions

Hearing loss is a common sensory deficit and more than 50% of affected individuals have a genetic etiology. The discovery of 40 genes and more than 100 loci involved in hearing loss has made genetic testing for some of these genes widely available. Genetic services for deafness are also being sought more often due to the early identification of hearing loss through newborn screening services. The motivations for pursuing genetic testing, and how genetic services are provided to the client may differ among individuals. Additionally, information obtained through genetic testing can be perceived and used in different ways by parents of deaf children and deaf adults. This study aimed to follow up on focus group studies published earlier with a quantitative survey instrument and assess the preference of consumers for provision of genetic services. We conducted a national survey of hearing and deaf parents of children with hearing loss and of deaf adults. Data was compared and analyzed by hearing status of the participant, their community affiliation and the genetic testing status using nominal logistic regression. Consistent with our focus group results, the survey participants thought that a genetic counselor/geneticist would be the most appropriate professional to provide genetics services. Statistically significant differences were noted in the preferred choice of provider based on the genetic testing status. Parents preferred that genetic evaluation, including testing, occur either immediately at or a few months after the audiologic diagnosis of hearing loss. This data should help providers in clinical genetics keep patient preferences at the helm and provide culturally competent services.     

Prenatal Diagnosis for Inherited Deafness—What is the Potential Demand?

Genetic testing for inherited deafness is now available within some genetics centres. This study used a structured questionnaire to assess the potential uptake of prenatal diagnosis (PND) for inherited deafness, and document the opinions of deaf and hearing individuals toward PND and termination of pregnancy (TOP) for hearing status. Participants were self-selected from the whole of the UK, of whom 644 were deaf, 143 were hard of hearing or deafened, and 527 were hearing individuals who had either a deaf parent or child. The results showed that 21% of deaf, 39% of hard of hearing and deafened, and 49% of hearing participants said they would consider PND for deafness. Six percent of deaf, 11% of hard of hearing and deafened, and 16% of hearing participants said they would consider a TOP if the fetus was found to be deaf. Two percent of deaf participants said they would prefer to have deaf children and would consider a TOP if the fetus was found to be hearing.     

Genetic counseling for deaf adults: Communication/language and cultural considerations

It has been estimated that at least 50% of congenital or early onset deafness loss has a genetic etiology. Genetic services have traditionally been utilized by hearing parents of deaf children. Deaf adults could also greatly benefit from genetic counseling services. However, many deaf adults do not seek genetic services due in part to the communication/language and cultural differences of this group. Deaf people communicate in various ways including the use of sign language, oral communication, writing, or a combination of these modes. Also, while some deaf individuals are part of the hearing culture, others are part of the Deaf culture which has its own language, values, and traditions. Culturally Deaf individuals do not see themselves as handicapped or disabled. The genetic professional's awareness of the communication/language and cultural needs of this group, as well as their agency's responsibilities under section 504 of the Rehabilitation Act of 1973, may increase the accessibility of genetic services and contribute to the provision of successful genetic counseling for deaf adults.Throughout this paper, the term deaf will be used to denote a person who audiologically has a hearing loss which may range from mild to profound and may be sensorineural, conductive, or mixed. However, the term Deaf is used to denote cultural deafness.     

Ethnic Differences in Parental Perceptions of Genetic Testing for Deaf Infants

As genetic testing becomes an integral part of the evaluation of deaf infants and children, it is important to understand parental views on genetic testing. The purpose of this study is to examine parental reasons for, and beliefs about, genetic testing for deafness in early-identified infants, and to determine if they differ as a function of ethnicity. We present baseline data collected from 56 Caucasian, 59 Hispanic, and 24 Asian parents of deaf children participating in a longitudinal, prospective study on genetic testing for connexin-related deafness. The overall finding is that reasons for, and beliefs about, genetic testing for deafness varied as a function of ethnicity. Virtually all parents sought genetic testing to understand why their child is deaf. However, Asian and/or Hispanic parents were more likely than Caucasian parents to view family planning, helping with their child's medical care, and helping the family as other important reasons for testing, and were more likely than Caucasian parents to perceive genetic testing to be useful for these purposes. Asian and Hispanic parents were more likely than Caucasian parents to perceive genetic testing in harmful terms. Genetic testing fulfills a cognitive need for parents to understand why their child is deaf, yet differences in responses suggest that Asian and Hispanic parents may seek testing for other purposes. Understanding different perspectives on genetic testing for deafness will enhance genetic counselors' cultural competence and facilitate the pre-test genetic counseling session.     

The genetics of deafness

Deafness is an etiologically heterogeneous trait with many known genetic and environmental causes. Genetic factors account for at least half of all cases of profound congenital deafness, and can be classified by the mode of inheritance and the presence or absence of characteristic clinical features that may permit the diagnosis of a specific form of syndromic deafness. The identification of more than 120 independent genes for deafness has provided profound new insights into the pathophysiology of hearing, as well as many unexpected surprises. Although a large number of genes can clearly cause deafness, recessive mutations at a single locus, GJB2 or Connexin 26, account for more than half of all genetic cases in some, but not all populations. The high frequency may well be related to the greatly improved social, educational, and economic circumstances of the deaf that began with the introduction of sign language 300-400 years ago, along with a high frequency of marriages among the deaf in many countries. Similar mechanisms may account for the rapid fixation of genes for speech after the first mutations appeared 50,000-100,000 years ago. Molecular studies have shown that mutations involving several different loci may be the cause for the same form of syndromic deafness. Even within a single locus, different mutations can have profoundly different effects, leading to a different pattern of inheritance in some cases, or isolated hearing loss without the characteristic syndromic features in others. Most cases of genetic deafness result from mutations at a single locus, but an increasing number of examples are being recognized in which recessive mutations at two loci are involved. For example, digenic interactions are now known to be an important cause of deafness in individuals who carry a single mutation at the Connexin 26 locus along with a deletion involving the functionally related Connexin 30 locus. This mechanism complicates genetic evaluation and counseling, but provides a satisfying explanation for Connexin 26 heterozygotes who, for previously unknown reasons, are deaf. A specific genetic diagnosis can sometimes be of great clinical importance, as in the case of the mitochondrial A1555G mutation which causes gene carriers to be exquisitely sensitive to the ototoxic effects of aminoglycosides. This potentially preventable genetic-environmental interaction was the most common cause of genetic deafness in countries where these antibiotics were used indiscriminately in the past. Advances in genetic knowledge along with the use of cochlear implants have posed unique ethical dilemmas for society as well as the deaf community. Since most deaf children are born to hearing parents, it seems likely that deaf culture, and intermarriages among those born with deafness will recede during this century. Will future critics view this as one of the medical triumphs of the 21(st) Century, or as an egregious example of cultural genocide? On the other hand, genetics can provide empowering knowledge to the deaf community that for the first time can allow many deaf couples to know whether their children will be hearing or deaf even before they are conceived.     

Mental health professionals' attitudes towards people who are deaf

Mental health professionals' attitudes towards deaf people were examined in relation to their previous contact with deaf people and their knowledge of deafness. Data were gathered regarding different aspects of contact, including the number and type of relationships participants had had with deaf people. A cognitive-processing theory of attitude change following contact (Rothbart & John, 1985) was explored. Knowledge of deafness did not correlate with attitudes towards deaf people but a relationship was found between the amount of contact that professionals had with deaf people of equal or higher status and more positive attitudes.     

The APA and deafness

Until the 1960s, people who were Deaf and mentally ill lacked access to psychological treatment. Few mental hospitals and clinics had interpreters available, and few psychologists and mental health professionals had knowledge of sign language. Major court decisions and federal laws have effected change, culminating with the Americans With Disabilities Act of 1990. This legislation gave people who are Deaf the right to equal access to mental health care as well as a host of other opportunities they had been previously denied. New access laws allowed Deaf students to become educated as psychologists, and a number of hearing psychologists who knew sign language entered the field of deafness. These two groups assumed vital roles within the American Psychological Association in addressing the issue of mental health access for people who are Deaf. ((c) 2006 APA, all rights reserved).     

Investigating the face inversion effect in a deaf population using the Dimensions Tasks

Early experience can change the way people process faces. Early deafness provides deaf children with the opportunity to learn sign language, which is likely to alter their face processing strategy. The goal of the current study was to investigate whether early deafness, combined with the sign language experience, was able to change the face processing strategy using the Dimensions Task. In the Face Dimensions Task, configural and featural information were parametrically and independently manipulated in the eye and mouth region of the face. The manipulations for configural information involved changing the distance between the eyes or the distance between the mouth and the nose. The manipulations for featural information involved changing the size of the eyes or the size of the mouth. Similar manipulations were applied in the House Dimensions Task, with top and bottom windows treated as eyes and mouth. In the Face Dimensions Task, both the signing deaf and hearing participants showed a larger inversion effect in the mouth condition than the eye condition. However, as compared to hearing participants, deaf participants showed smaller inversion effect in the mouth condition, because their performance in the inverted mouth condition was not compromised by inversion to the same extent as the hearing participants. In the House Dimensions Task, this effect was not present, suggesting that it was face specific. This effect could be explained by the redistributed attentional resources from the centre to peripheral visual fields of deaf participants.     

听觉障碍人群检测任务基于位置的返回抑制

基于位置的返回抑制（IOR）是指对先前注意过的位置上靶子反应变慢的现象。探讨听觉障碍被试检测任务IOR的时程和量是否受听觉剥夺的影响。实验1中,听觉障碍被试和听力正常组被试具有相同的IOR时程和量;但在取消中央线索化的实验2中,当SOA为350ms时,听力正常被试没有出现IOR,听觉障碍被试出现了IOR,说明听觉障碍被试的注意脱离快于听力正常被试。听觉障碍被试对外周靶子的反应快于听力正常被试,表明听障人群外周注意资源增强。这些结果表明听觉障碍被试的空间注意更具有效性和策略性。     

Life in the Neither World: Identity Work as Relational Negotiation of Authenticity and Stigma Management for Biculturally Deaf Individuals Living between Worlds

This research examines identity negotiation, stigma management, and authenticity strategies utilized by culturally deaf individuals when navigating deviance within hearing, deaf, and Deaf worlds. Data reveal that respondents feel compelled to prove capability and normalizing themselves and deafness when with hearing and to defend and affirm authenticity when with other deaf and culturally Deaf others. These insights increase our awareness of the differing and often competing expectations many stigmatized individuals are expected to manage at a given time and the latent effects of identity work and management on individual agency and identity.     

聋人大学生适应量表的修订

聋人大学生在适应方面存在明显不足,这些适应问题既有和健听大学生群体相同的适应问题,又有一些聋人群体存在的特殊适应问题。然而,目前尚无适用于我国聋人大学生适应力测评的标准化工具。本研究以872名聋人大学生为对象,通过访谈和问卷调查,以《中国大学生适应量表（CCSAS）》为基础,基于聋人大学生群体进行了修订,建立《聋人大学生适应量表》。结果表明：（1）问卷包含4个维度,分别是学习适应、人际关系适应、择业适应、情绪适应,共由19个项目组成;（2）修订后的问卷,项目与量表总分相关系数在0.42~0.60之间,项目区分度指标良好。量表内部一致性信度为0.90;量表总分分半信度0.85,量表信、效度指标良好,《聋人大学生适应量表》达到心理测量学指标。     

Effect of Pre-test Genetic Counseling for Deaf Adults on Knowledge of Genetic Testing

Empirical data on genetic counseling outcomes in the deaf population are needed to better serve this population. This study was an examination of genetics knowledge before and after culturally and linguistically appropriate pre-test genetic counseling in a diverse deaf adult sample. Individuals ≥18?years old with early-onset sensorineural deafness were offered connexin-26/30 testing and genetic counseling. Participants completed questionnaires containing 10 genetics knowledge items at baseline and following pre-test genetic counseling. The effects of genetic counseling, prior beliefs about etiology, and participant's preferred language on genetics knowledge scores were assessed (n?=?244). Pre-test genetic counseling (p?=?.0007), language (p?相似文献   

Predictors of interest in direct-to-consumer genetic testing

Direct-to-consumer (DTC) genetic testing is an increasingly available option among individuals searching for information about their health risk factors and ancestry. This study is one of the first to examine predictors of interest in DTC genetic testing. Participants read one of the three types of information about DTC genetic testing (positive only, negative only or both) and reported perceptions of and intentions to pursue testing. The information which people read, their perceptions of the benefits of testing, their perceptions of the barriers to testing and anticipated regret predicted intentions to undergo testing. Interestingly, people who read both positive and negative information did not differ from people who read only negative information in their intentions to pursue testing. We discuss the implications of these findings for predicting interest in this relatively new type of genetic testing and for designing interventions to encourage (or discourage) testing.     

Predictors of interest in direct-to-consumer genetic testing

Direct-to-consumer (DTC) genetic testing is an increasingly available option among individuals searching for information about their health risk factors and ancestry. This study is one of the first to examine predictors of interest in DTC genetic testing. Participants read one of the three types of information about DTC genetic testing (positive only, negative only or both) and reported perceptions of and intentions to pursue testing. The information which people read, their perceptions of the benefits of testing, their perceptions of the barriers to testing and anticipated regret predicted intentions to undergo testing. Interestingly, people who read both positive and negative information did not differ from people who read only negative information in their intentions to pursue testing. We discuss the implications of these findings for predicting interest in this relatively new type of genetic testing and for designing interventions to encourage (or discourage) testing.     

Bilingual Cancer Genetic Education Modules for the Deaf Community: Development and Evaluation of the Online Video Material

Health information about inherited forms of cancer and the role of family history in cancer risk for the American Sign Language (ASL) Deaf community, a linguistic and cultural community, needs improvement. Cancer genetic education materials available in English print format are not accessible for many sign language users because English is not their native or primary language. Per Center for Disease Control and Prevention recommendations, the level of literacy for printed health education materials should not be higher than 6th grade level (~?11 to 12 years old), and even with this recommendation, printed materials are still not accessible to sign language users or other nonnative English speakers. Genetic counseling is becoming an integral part of healthcare, but often ASL users are not considered when health education materials are developed. As a result, there are few genetic counseling materials available in ASL. Online tools such as video and closed captioning offer opportunities for educators and genetic counselors to provide digital access to genetic information in ASL to the Deaf community. The Deaf Genetics Project team used a bilingual approach to develop a 37-min interactive Cancer Genetics Education Module (CGEM) video in ASL with closed captions and quizzes, and demonstrated that this approach resulted in greater cancer genetic knowledge and increased intentions to obtain counseling or testing, compared to standard English text information (Palmer et al., Disability and Health Journal, 10(1):23–32, 2017). Though visually enhanced educational materials have been developed for sign language users with multimodal/lingual approach, little is known about design features that can accommodate a diverse audience of sign language users so the material is engaging to a wide audience. The main objectives of this paper are to describe the development of the CGEM and to determine if viewer demographic characteristics are associated with two measurable aspects of CGEM viewing behavior: (1) length of time spent viewing and (2) number of pause, play, and seek events. These objectives are important to address, especially for Deaf individuals because the amount of simultaneous content (video, print) requires cross-modal cognitive processing of visual and textual materials. The use of technology and presentational strategies is needed that enhance and not interfere with health learning in this population.     

输入方式对学语前聋生语篇理解的影响：文本和测题类型的调节效应

为了考察信息输入方式、文本类型和测题类型对聋生语篇理解的影响,研究通过录像呈现,以口语、手语、书面语三种输入方式向学语前极重度七、八、九年级聋生呈现叙述性和描述性两种文本类型的语篇信息,并要求其完成理解测试。结果显示：输入方式对聋生语篇理解的效率存在影响,书面语成绩最高且速度最快,依次为手语、口语,文本类型和测题类型对该影响有调节作用。结果表明输入方式是聋生语篇理解的主要影响因素,文本和测题类型是调节因素。     

Enhanced gaze‐following behavior in Deaf infants of Deaf parents

Gaze following plays a role in parent–infant communication and is a key mechanism by which infants acquire information about the world from social input. Gaze following in Deaf infants has been understudied. Twelve Deaf infants of Deaf parents (DoD) who had native exposure to American Sign Language (ASL) were gender‐matched and age‐matched (±7 days) to 60 spoken‐language hearing control infants. Results showed that the DoD infants had significantly higher gaze‐following scores than the hearing infants. We hypothesize that in the absence of auditory input, and with support from ASL‐fluent Deaf parents, infants become attuned to visual‐communicative signals from other people, which engenders increased gaze following. These findings underscore the need to revise the ‘deficit model’ of deafness. Deaf infants immersed in natural sign language from birth are better at understanding the signals and identifying the referential meaning of adults’ gaze behavior compared to hearing infants not exposed to sign language. Broader implications for theories of social‐cognitive development are discussed. A video abstract of this article can be viewed at https://youtu.be/QXCDK_CUmAI