Purpose: Progress in identifying genes for deafness together with implementation of universal audiologic screening of newborns has provided the opportunity for more widespread use of molecular tests to detect genetic forms of hearing loss. Efforts to assess consumer attitudes toward these advances have lagged behind. Methods:Consumer focus groups were held to explore attitudes toward genetic advances and technologies for hearing loss, views about newborn hearing screening, and reactions to the idea of adding molecular screening for hearing loss at birth. Focus group discussions were recorded, transcribed and analyzed. Results: Five focus groups with 44 participants including hearing parents of deaf children, deaf parents and young deaf adults were held. Focus group participants supported the use of genetic tests to identify the etiology of hearing loss but were concerned that genetic information might influence reproductive decisions. Molecular newborn screening was advocated by some; however, others expressed concern about its effectiveness. Conclusion: Documenting the attitudes of parents and other consumers toward genetic technologies establishes the framework for discussions on the appropriateness of molecular newborn screening for hearing loss and informs specialists about potential areas of public education necessary prior to the implementation of such screening. Genet Med 2006:8(12):779-783. Key Words: hearing loss, deafness, molecular testing, genetic testing, focus groups, consumer attitudes, newborn screeningHearing loss affects approximately 3-4:1,000 newborns and by the end of the first decade of life, an additional 5-9 cases of permanent childhood hearing loss are identified for every 10 cases present at birth, making it one of the most common birth defects in the United States. 1 Genetic factors account for an estimated 60% of profound hearing loss present at birth or in early childhood. 2,3 To date, more than 100 genes involved in nonsyndromic and syndromic deafness have been mapped and over 40 genes have been cloned. 4 More than half of nonsyndromic hearing loss in children can be attributed to mutations in a single gene, GJB2 (Gap Junction Beta 2), which codes for the connexin 26 protein. 5 In 1999, U.S. federal legislation mandated the establishment of early hearing detection and intervention (EHDI) programs in every state. The goals of the state-based EHDI programs are to screen all newborns for hearing before one month of age using audiologic techniques, diagnose the hearing loss no later than three months of age and coordinate appropriate intervention services no later than six months of age. 6,7 Discussions about how to best incorporate genetic services into the current EHDI program framework have been initiated. 8 -11 While auditory hearing screening is an effective and relatively inexpensive way to detect hearing loss in the newborn period, a major limitation is that all forms of prelingual hearing loss are not expressed at birth and could be missed by EHDI programs based solely on audio...

Rosenberg (1979) reported that children under the age of 11 do not recognize that they are the authority on their own self-knowledge, placing authority instead with adults. However, results from Studies 1 and 2, in which 86 and 47 children, respectively, from predominantly White low- to middle-income communities participated, suggest that the shift from reliance on adults to self occurs between the ages of 5 and 10 years. The studies also demonstrate parallel development in judging own and other people's self-knowledge. Study 3, in which 96 children from predominantly White low- to middle-income communities participated, shows the beginnings of sophisticated understanding in children aged 5 to 7 years, who differentiate between information about the self that is best judged by the self and information that can be judged by others. Suggestions are made as to why this aspect of understanding minds develops later than other aspects of psychological understanding.

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.

Hearing loss is a common neuro-sensory deficit; nearly 50% of children with hearing loss have a genetic etiology. With the discovery of 40 genes and more than 100 loci involved in hearing loss, genetic testing is becoming more widely available. The information obtained through genetic testing can be perceived and used in different ways by parents of deaf children and deaf adults, based on their prior knowledge and understanding of these advances. It is therefore important to clarify the feelings of these potential consumers towards genetic services for hearing loss and understand their goals for genetic testing. The present study evaluates the feelings of consumers towards the advances in the genetics of hearing loss, the motivations for pursuing testing, and the perceived impact testing may have on their lives. We surveyed 808 parents of children with hearing loss nationally and 156 young deaf adults at Gallaudet University. In this study, learning the etiology of the hearing loss was the most commonly cited motivation for pursuing genetic testing and for parents was the most commonly cited outcome that genetic testing may have on their children's lives. Culturally Deaf respondents were less likely to believe that genetic testing will impact their lives or their children's lives and were less likely to report positive feelings about advances in the genetics of hearing loss. Cultural affiliation and genetic testing status, rather than hearing status, contributed more to the participants' responses.

Developmental approaches to autism treatment aim to establish strong interpersonal relationships through joint play. These approaches have emerging empirical support; however, there is a need for further research documenting the procedures and demonstrating their effectiveness. This pilot study evaluated changes in parent behavior and child autism symptoms following a 12-week Developmental Reciprocity Treatment parent-training program. A total of 22 children with autism spectrum disorder between 2 and 6 years (mean age = 44.6 months, standard deviation = 12.7) and a primary caregiver participated in 12 weekly sessions of Developmental Reciprocity Treatment parent training, covering topics including introduction to developmental approaches, supporting attention and motivation, sensory regulation and sensory-social routines, imitation/building nonverbal communication, functional language development, and turn taking. Results indicated improvement in aspects of parent empowerment and social quality of life. Improvement in core autism symptoms was observed on the Social Responsiveness Scale total score (F(1,19): 5.550, p = 0.029), MacArthur-Bates Communicative Development Inventories number of words produced out of 680 (F(1,18): 18.104, p = 0.000), and two subscales of the Repetitive Behavior Scale, Revised (compulsive, p = 0.046 and restricted, p = 0.025). No differences in sensory sensitivity were observed on the Short Sensory Profile. Findings from this pilot study indicate that Developmental Reciprocity Treatment shows promise and suggest the need for future controlled trials of this developmentally based intervention.