Non-syndromic Sensorineural Prelingual Deafness: The Importance of Genetic Counseling in Demystifying Parents’ Beliefs About the Cause of Their Children’s Deafness

Recent advances in molecular genetics have allowed the determination of the genetic cause of some childhood non-syndromic deafness. In Portugal only a small proportion of families are referred to a clinical genetics service in order to clarify the etiology of the deafness and to provide genetic counseling. Consequently, there are no published studies of the prior beliefs of parents about the causes of hereditary deafness of their children and their genetic knowledge after receipt of genetic counseling. In order to evaluate the impact of genetic counseling, 44 parents of 24 children with the diagnosis of non-syndromic sensorineural prelingual deafness due to mutations in the GJB2 (connexin 26), completed surveys before and after genetic counseling. Before counseling 13.6 % of the parents knew the cause of deafness; at a post-counseling setting this percentage was significantly higher, with 84.1 % of the parents accurately identifying the etiology. No significant differences were found between the answers of mothers and fathers either before or after genetic counseling. Parents' level of education was a significant factor in pre-test knowledge. After genetic counseling 95.5 % of the parents stated that the consultation had met their expectations, 70.5 % remembered correctly the inheritance pattern, and 93.2 % correctly recalled the chance of risk of deafness. These results underline the importance of genetic counseling in demystifying parents' beliefs about the etiology of their children's deafness

Using a social marketing framework to evaluate recruitment of a prospective study of genetic counseling and testing for the deaf community

Background: Recruiting deaf and hard-of-hearing participants, particularly sign language-users, for genetics health service research is challenging due to communication barriers, mistrust toward genetics, and researchers' unfamiliarity with deaf people. Feelings of social exclusion and lack of social cohesion between researchers and the Deaf community are factors to consider. Social marketing is effective for recruiting hard-to-reach populations because it fosters social inclusion and cohesion by focusing on the targeted audience's needs. For the deaf population this includes recognizing their cultural and linguistic diversity, their geography, and their systems for information exchange. Here we use concepts and language from social marketing to evaluate our effectiveness to engage a U.S. deaf population in a prospective, longitudinal genetic counseling and testing study. Methods. The study design was interpreted in terms of a social marketing mix of Product, Price, Place, and Promotion. Price addressed linguistic diversity by including a variety of communication technologies and certified interpreters to facilitate communication; Place addressed geography by including community-based participation locations; Promotion addressed information exchange by using multiple recruitment strategies. Regression analyses examined the study design's effectiveness in recruiting a culturally and linguistically diverse sample. Results: 271 individuals were enrolled, with 66.1% American Sign Language (ASL)-users, 19.9% ASL + English-users, 12.6% English-users. Language was significantly associated with communication technology, participation location, and recruitment. Videophone and interpreters were more likely to be used for communication between ASL-users and researchers while voice telephone and no interpreters were preferred by English-users (Price). ASL-users were more likely to participate in community-based locations while English-users preferred medically-based locations (Place). English-users were more likely to be recruited through mass media (Promotion) while ASL-users were more likely to be recruited through community events and to respond to messaging that emphasized inclusion of a Deaf perspective. Conclusions: This study design effectively engaged the deaf population, particularly sign language-users. Results suggest that the deaf population's cultural and linguistic diversity, geography, and forms of information exchange must be taken into account in study designs for successful recruitment. A social marketing approach that incorporates critical social determinants of health provides a novel and important framework for genetics health service research targeting specific, and hard-to-reach, underserved groups. © 2013 Kobayashi et al.; licensee BioMed Central Ltd

Midwives\u27 Knowledge, Attitudes, and Practices Related toNewborn Hearing Screening.Journal of Midwifery and Women\u27s Health

Introduction: Hearing loss is the most common congenital condition screened for at birth in the United States, and more than 95% of newborns are currently screened for hearing. Newborn hearing screening is most effective when infants receive timely and effective interventions. Unfortunately, follow-up rates for newborns not passing their initial hearing screenings are as low as 50% in some states. Midwives are well-positioned to encourage families to follow-up with their neonatal providers when newborns are referred for further testing. Newborn hearing screening is a relatively new practice in the United States and, to date, there has been no research regarding the informational needs and practices of certified nurse-midwives or certified midwives related to hearing screening. This study examined the knowledge, attitudes, and follow-up practices of midwives related to newborn hearing screening and intervention. Methods: A survey instrument was developed and sent to 5255 American College of Nurse-Midwives members in 50 states and 2 territories. Results: Five hundred and eighteen surveys were returned, yielding a response rate of 9.9%. Only 68% of respondents said it was very important to screen all newborns for hearing loss. Respondents reported significant gaps in their knowledge about screening procedures, steps for referral, and the availability of resources when newborns did not pass the test. Midwives also reported the need for information about hearing loss conditions and genetics, screening guidelines, protocols for follow-up, referral networks, and therapies available. Discussion: Current practices in newborn hearing screening and intervention programs can be enhanced by strengthening the basic midwifery knowledge of and rationale for follow-up when newborns fail their hearing screenings. Midwives can play an integral role in optimizing hearing, speech, and family interaction by assuring that each newborn has access to the best hearing screening and referrals