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.     

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.     

Influence of age, sex, etiology, and hearing loss on balance performance by deaf children

The purpose of this study was to examine the influence of age, sex, etiology, and degree of hearing loss on the static and dynamic balance performance of hearing impaired children and youth (N = 132), ages 3 to 14 yr. The subjects were individually assessed on Items 2 and 7 of Subtest 2 of the Short Form of the Bruininks-Oseretsky Test of Motor Proficiency. As expected, performance on both tasks improved with chronological age. In comparing the performance of subjects by etiology, only one significant difference emerged; those with genetic deafness were superior on static balance to those whose deafness was idiopathic. However, the mean scores for the genetic group were superior for both balance tasks. The sex of the child as well as extent of hearing loss did not affect performance in either task.     

An overview of the current status of social phobia

Social phobia is a common and debilitating anxiety disorder that is associated with serious impairment in social and vocational functioning and increased risk of comorbid psychopathology. The disorder typically begins in adolescence and left untreated follows a chronic, unremitting course. Although little is currently known about the etiology of the condition, dramatic developments have been made in the assessment and treatment of social phobia over the past decade. Various medications and forms of behavior therapy have been shown to be effective, although many patients do not respond fully to treatment. The current status of social phobia and directions for future research are discussed.     

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.     

An introduction to hearing loss and screening procedures for behavioral research

Hearing loss is a confounding variable that is rarely addressed in behavioral research despite its prevalence across the life span. Currently, the most common method of experimental control over hearing acuity is through self report of perceived impairment. We argue that this technique may lack sensitivity and that researchers should more commonly utilize standardized hearing screening procedures. Distinctive patterns of hearing loss are reviewed with attention to populations that commonly participate in behavioral research. We explain standard techniques for conducting pure tone hearing screening using a conventional portable audiometer and outline a procedure for how researchers can modify a conventional laptop computer for audiometric screening when a standard audiometer is unavailable. We offer a sample hearing screening program that researchers may use toward the development of their own protocol. This program is freely available for download at www .psychonomic.org/archive.     

Cognitive-Behavioral Treatment of Depression, Part IX: Confronting Predisposing Factors

Cognitive-behavioral therapy can help many depressed clients learn more effective ways of coping with problems in their lives. However, for many clients with chronic or recurrent depression, it can be helpful to examine the biological, psychological, and social/cultural factors that may predispose a person toward depressive episodes. In order to address possible biological predispositions, it is important to assess for a positive family history of depression, evaluate family members' response to previous treatments, and refer for medications when needed. In order to address possible psychological predispositions, it is useful to evaluate long-standing personality styles, identify negative events from childhood, examine the client's relationship with his or her parents, evaluate the history of abuse, and identify early loss experiences. Cultural factors may play an influential role in the etiology of depression, and can be useful to incorporate into a broad treatment plan. However, cultural factors are difficult to modify through individual psychotherapy. Hence, they are unlikely to play a central role in cognitive-behavioral therapy for depression. Overall, therapists working with depressed clients should be prepared to confront a broad range of biological, psychological, and environmental factors that can create or perpetuate a client's risk for depression.     

Early intervention after universal neonatal hearing screening: impact on outcomes

This article summarizes the developmental outcomes of Colorado children with significant hearing loss. Some of the research compares children born in hospitals that have implemented universal newborn hearing screening programs for newborns. Other research compares the developmental outcomes of children who have been early-identified with hearing loss. Early-identification is defined as identification of hearing loss within the first six months of life. Late identification in the Colorado studies is defined as age of identification of hearing loss after the age of six months. In a few of the Colorado studies, age at initiation of intervention was used. Within the Colorado system, age of identification can be interpreted as almost synonymous with age of intervention, as the vast majority of children enter intervention services with two months after the identification of the hearing loss. Children who were early-identified and had early initiation of intervention services (within the first year of life) had significantly better vocabulary, general language abilities, speech intelligibility and phoneme repertoires, syntax as measured by mean length of utterance, social-emotional development, parental bonding, and parental grief resolution. Two other studies (Nebraska and Washington state) of early- versus later-initiation of intervention services report findings similar to the Colorado studies. Direct comparisons with the historical literature are not possible because the developmental delays of what would now be termed "later-identified" were too low to report developmental ages for the birth through five-year-old population.     

“My Plate is Full”: Reasons for Declining a Genetic Evaluation of Hearing Loss

The aim of this study was to obtain patient and parent perspectives on genetic evaluation of hearing loss, in order to identify motivators, expectations, and barriers. Three focus groups were conducted following a semi-structured discussion guide, led by an independent moderator. Participants were hearing parents of children with permanent hearing loss or deaf adults. Qualitative content analysis was used to develop a codebook and identify major themes and subthemes. Participant views were compared to national guidelines. The 28 participants comprised 23 parents representing 21 unique families and 5 deaf adults. 13/21 families and 0/5 adults reported comorbidities, 4/21 families and 3/5 adults had a positive family history, and 12/21 families versus 0/5 adults had utilized genetics services. A common theme among adults and parents was a curiosity as to the cause of hearing loss. Parents were motivated to detect comorbidities and optimize care for hearing loss. Some parents felt overwhelmed by the hearing loss and unprepared to pursue early genetic evaluation as recommended in guidelines. Several reported positive experiences following genetics consultation, while others reported unease and unmet expectations. Notably, both parents and adults expressed ambivalence regarding the desire for genetic knowledge. Financial concerns and difficulties obtaining a referral were cited as extrinsic barriers. For parents of children with hearing loss, both the presence of comorbidities and a positive family history were drivers of genetics consultation and/or genetic testing. We identified educational opportunities for both patients and providers that would improve informed decision-making and increase access to genetic services. Consideration of the patient/family perspective and their decision-making processes, along with flexibility in the approach to genetics evaluation and its timing, will optimize both the development and implementation of guidelines.     

Cost-effectiveness and test-performance factors in relation to universal newborn hearing screening

The first portion of this paper reviews current understanding of the cost of universal newborn hearing screening (UNHS), including capital and operating expenses, as well as the costs for follow-up testing on infants who do not pass the hearing screening test in the perinatal period. Capital expenses include the cost of equipment. Operating expenses include the costs for disposables and personnel. Follow-up costs relate to the diagnostic testing that must be performed in order to determine hearing status in those infants who do not pass the newborn hearing screening test. This section is followed by a more theoretical approach, in which test performance, prevalence, program costs, and "costs of hearing loss" are combined in a model that includes all costs of hearing loss, including screening, follow-up testing, and costs (benefits) associated with identifying hearing loss early in life. While some of the model's cost/benefit assumptions may be incorrect, the general approach of taking into account both costs and benefits provides a framework for evaluating the utility of UNHS in a more global manner. Model assumptions (costs, benefits, prevalence, sensitivity, specificity) can be changed to values deemed more appropriate, but the general approach is still informative. With the present assumptions, it is shown that initially, the costs of UNHS exceed its benefits. However, after only four years of operation, UNHS programs will result in a net savings to society. These savings increase rapidly, reaching a maximum annual benefit of seven billion dollars 75 years after initiation of the program, which is also the societal benefit for all years thereafter.     

Serving Clients With Hearing Loss: Best Practices in Mental Health Counseling

This article examines the risk factors and characteristics of clients with hearing loss, including inequitable access to education and mental health care services, financial barriers, communication problems, and societal discrimination. Culturally specific counseling approaches and techniques for mental health counselors serving clients with hearing loss are presented, with a focus on building counselor competency and client employment skills. The use of interpreters in therapeutic settings is also discussed.     

The otolaryngologist's role in management of hearing loss in infancy and childhood

This article reviews the role of the otolaryngologist-head and neck surgeon-in the diagnosis and treatment of hearing loss in infants and young children. The otolaryngologist is well-versed in the anatomy, physiology, and pathophysiology of the auditory system, as well as the craniofacial syndromes that can involve the head and neck in combination with deafness. In this paper, the various causes of congenital hearing loss are described, as well as the steps required for proper diagnosis. Finally, surgeries used by otolaryngologists to treat childhood hearing loss, their indications, and outcomes, are discussed.     

Suicidal behavior in long-term care facilities

Questionnaires were mailed to a random sample of administrators of 1,080 long-term care facilities, in order to obtain information on the extent and nature of overt suicide and intentional life-threatening behavior (ILTB). Rates were calculated for death for overt suicides and ILTB. In-depth case studies, involving observation, interviews, and examination of medical records, were conducted in four facilities. Quantitative analysis revealed that white males were most at risk. Refusing to eat or drink and refusing medications were the most common suicidal behaviors. Depression, loneliness, feelings of family rejection, and loss were significant factors.     

The effect of a simulated hearing loss on performance of an auditory memory task in driving

Hearing loss has been shown to exacerbate the effect of auditory distraction on driving performance in older drivers. This study controlled for the potentially confounding factor of age-related cognitive decrements, by applying a simulated hearing loss in young, normally hearing individuals. Participants drove a simulated road whilst completing auditory tasks under simulated hearing loss or normal hearing conditions. Measures of vehicle control, eye movements and auditory task performance were recorded. Results showed that performing the auditory tasks whilst driving resulted in more stable lateral vehicle control and a reduction in gaze dispersion around the road centre. These trends were not exacerbated by simulated hearing loss, suggesting no effect of hearing loss on vehicle control or eye movement patterns during auditory task engagement. However, a small effect of simulated hearing loss on the performance of the most complex auditory task was observed during driving, suggesting that the use of sound-based in-vehicle systems may be problematic for hearing impaired individuals. Further research incorporating a wider variety of driving scenarios and auditory tasks is required in order to confirm the findings of this study.     

Early amplification options

Children with permanent hearing loss have been remediated with hearing amplification devices for decades. The influx of young infants identified with hearing loss through successful newborn hearing screening programs has established a need for amplification resources for infants within the first six months of life. For the approximately two of every 1000 infants born who are identified with bilateral hearing loss [Mehl and Thomson, 1998, Pediatrics 101, p. e4], the use of amplification is commonly the first step in treating the sequella of their loss. The use of hearing aids, combined with early intervention, has been shown to significantly improve the speech and language skills of young children with hearing loss [Yoshinaga-Itano, 2000, Seminars in Hearing 21, p. 309]. Speech and language delays have contributed to compromised academic performance of school aged children with hearing loss [Johnson et al., 1997, Educational Audiology Handbook, Singular Publishing, San Diego]. Most hard-of-hearing and deaf children use hearing aids and other assistive listening devices every day throughout their lifetime and the life expectancy of a hearing aid is only five to eight years. The current challenge for pediatric audiologists is selecting and evaluating the available amplification to provide the best options for children and their families. Amplification technology has seen an explosion in growth the past few years and the options continue to expand rapidly. This article examines currently available amplification technology and reviews the selection criteria that may be used for infants and young children. Issues such as style, type, amplification features, signal processing strategies, and verification and validation tools are also discussed.     

Effects of hearing and vision impairments on the Montreal Cognitive Assessment

Many standardized measures of cognition include items that must be seen or heard. Nevertheless, it is not uncommon to overlook the possible effects of sensory impairment(s) on test scores. In the current study, we investigated whether sensory impairments could affect performance on a widely used screening tool, the Montreal Cognitive Assessment (MoCA). Three hundred and one older adults (mean age = 71 years) completed the MoCA and also hearing and vision tests. Half of the participants had normal hearing and vision, 38% impaired hearing, 5% impaired vision, and 7% had dual-sensory impairment. More participants with normal sensory acuity passed the MoCA compared to those with sensory loss, even after modifying scores to adjust for sensory factors. The results suggest that cognitive abilities may be underestimated if sensory problems are not considered and that people with sensory loss are at greater risk of cognitive decline.     

Cortical deafness cannot account for the inability of Japanese macaques to discriminate species-specific vocalizations

Bilateral ablation of the superior temporal gyrus in Japanese macaques results in a significant hearing loss (cortical deafness) as well as in an inability to discriminate between two types of their "coo" vocalizations. A two-part investigation was conducted to determine whether the hearing loss may itself affect the ability to discriminate vocalizations. First, four normal Japanese macaques were tested for their ability to discriminate coos which were filtered to simulate the effect of a cortical hearing loss. Second, four Japanese macaques with bilateral superior temporal gyrus lesions were tested for their ability to discriminate coos which were amplified and equalized to compensate for each animal's hearing loss. All four normal macaques were able to discriminate the filtered coos easily whereas compensating for the operated monkeys' hearing losses did not improve their performances. It appears that the inability of monkeys with bilateral superior temporal gyrus lesions to discriminate conspecific vocalizations is not simply due to the accompanying hearing loss, but is a separate auditory disorder.     

Parental Narratives About Genetic Testing for Hearing Loss: A One Year Follow Up Study

Few studies examine whether and how parental attitudes towards genetic testing change over time. In this study we interviewed parents of 14 children with newly identified hearing loss at two time points: after referral to genetics and 1 year later. Qualitative analyses of parental narratives indicate that parental attitudes did not change significantly over this time. Parents who perceived genetic testing to be useful continued to value it after testing, while parents who did not perceive it as being useful for their child’s future held the same view a year later. The only parents who changed their views regarding the usefulness of genetic testing for hearing loss were those who reported that their children underwent significant changes in their hearing loss or were faced with other life threatening conditions. Parents were also often unaware of the role of the genetic counselor and how genetic counseling could help address many of their lingering questions and concerns. These emergent themes indicate the need for geneticists and genetic counselors to be aware of and sensitized to the questions and attitudes that bring parents to a genetic evaluation, as well as the reasons why parents may not follow up with genetic testing for hearing loss when recommended.     

Does Absence of Hearing Ability Enhance Visual Vigilance? It Depends on Task Complexity

Successful performance of a vigilance task in a particular modality can be affected by the allocation of attentional resources to other cognitive processes using same or different modalities. The present study investigated whether loss of hearing affects visual vigilance task performance and also if it’s a function of increased task complexity. A sample of 30 adolescents ( 15 with hearing loss and 15 with normal hearing) were selected by matching them in pairs according to their working memory functioning and other relevant organismic variables. A software program measured the performance on vigilance task with varying task complexity levels. Analysis of the obtained data indicates that the effect of hearing impairment on visual vigilance is moderated by task complexity and that is contingent to attentional resources. Here, deprivation in hearing ability negatively affects functioning of visual vigilance significantly only when the task complexity increases. But no significant differences are observed in hearing and hearing impaired adolescents when the task demanded less attentional resources.     

Profiling the deaf high school student who is a problem in the classroom

The discipline referral forms and available school records of five residential schools for the deaf were surveyed. Students were categorized as being never referred, periodically referred, and chronically referred. The student characteristics of age, sex, degree of hearing loss, and reading ability were used to predict membership in a frequency of referral category through a log-linear analysis statistic. A conceptual model was built and tested statistically which showed that the most important factor was reading ability followed by hearing loss, age, and sex of the student. The "typical problem" student would be a younger male who was a poorer reader and had a less severe hearing loss.