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

Abstract

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.

From Constraints to Opportunities? Provision of Psychosocial Support in Portuguese Oncogenetic Counseling Services

“…The overall findings allow important and timely reflection on the provision of genetic counseling in Portugal and its effectiveness as the first generation of Portuguese genetic counselors is ready for integration in public healthcare services. The study adds to the growing body of research on psychosocial genetics at national level (Guimarães et al 2013;Leandro et al 2012;Mendes et al 2010;Mendes and Sousa 2012;Nunes et al 2012;Paneque et al 2012;Rodrigues et al 2012).…”

Genetic Counseling in Portugal: Education, Practice and a Developing Profession

“…In addition to the graduation of new genetic counselors, our MSc course produced a growing body of research on genetic counseling. Integrated research projects were included in the curriculum and led to international publications (Romariz et al 2012;Nunes et al 2012;Leandro et al 2014;Rodrigues et al 2013). Family and psychosocial-oriented issues in genetic counseling received increased attention in the national context (Mendes, et al 2010(Mendes, et al , 2012.…”

Perceptions of parents of children with hearing loss of genetic origin in South Africa

“…Surveys completed by 44 parents of children with GJB2-related NSHL showed that prior to a genetic counseling session, only 13.6% of the parents knew that there was a genetic cause for their child's HL, compared to 84.1% post-counseling. Additionally, after the session, 93.2% were able to correctly recall the recurrence risk (Rodrigues et al 2013). This study highlights the important role that genetic counseling may play in assisting parents to understand the mechanism behind their child's HL as well as the risk for recurrence.…”