Abstract
More than 80% of people with hearing loss (HL) live in low- and middle-income countries. Up to 90% of deaf children are born to hearing parents, leading to novel parenting, communication, educational, and psychosocial experiences. Half of congenital pre-lingual HL is genetic, with a relatively high recurrence risk that may lead to specific challenges for parents of affected children. Currently, little is known of genes implicated and causative mutations for most populations who have HL in Sub-Saharan Africa, as well as genetic counseling services needs for this population. Therefore, this study aimed to explore parents’ perceptions and understanding of the genetic etiology of their child’s HL, in order to inform policies and services. In-depth qualitative interviews were conducted with 11 parents of children who have non-syndromic HL of putative genetic origin. Data were analyzed through the framework approach. Three salient themes emerged, namely comprehension and understanding of the cause, in which most parents were unable to identify the potential hereditary cause of their child’s HL; responsibility and blame; and their perception of genetic counseling and testing. Most of the participants had positive attitudes towards genetic testing, describing that it may provide answers and that the information gained would be helpful for the future. The data could assist in understanding the challenges faced by parents, in the absence of genetic testing, emphasizing the need for accurate genetic testing to support counseling services to parents of children with HL in an African Setting.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Adedokun BO, Yusuf BO, Lasisi JT, Jinadu AA, Sunmonu MT, Ashanke AF et al (2015) Perception of genetic testing for deafness and factors associated with interest in genetic testing among deaf people in a selected population in sub-Saharan Africa. J Genet Couns 24(6):1037–1043
Beighton P, Fieggen K, Wonkam A, Ramesar R, Greenberg J (2012) The University of Cape Town’s contribution to medical genetics in Africa—from the past into the future. SAMJ. S Afr Med J 102(6):446–448
Benatar SR (2002) Reflections and recommendations on research ethics in developing countries. Soc Sci Med 54(7):1131–1141
Brunger, J., Murray, G., M., O. R., Matthews, A. L., Smith, R. J. H., & Robin, N. H. (2000). Parental attitudes toward genetic testing for pediatric deafness. Am J Med Genet, 67, 1621–1625
Chan DK, Chang KW (2014) GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype. Laryngoscope 124(2):E34–E53
Condit CM (2010) Public attitudes and beliefs about genetics. Annu Rev Genomics Hum Genet 11:339–359
Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR et al (1997) Prelingual deafness: high prevalence of a 30delG mutation in the Connexin 26 gene. Hum Mol Genet 6(12):2173–2177
Education, S. A. D. o. B (2011) National curriculum statement: life sciences. Department of Basic Education, Pretoria
Emery SD, Middleton A, Turner GH (2010) Whose deaf genes are they anyway? The deaf community’s challenge to legislation on embryo selection. Sign Lang Stud 10(2):155–169
Etchegary H, Cappelli M, Potter B, Vloet M, Graham I, Walker M, Wilson B (2009) Attitude and knowledge about genetics and genetic testing. Public Health Genomics 13(2):80–88
Greenberg J, Kromberg J, Loggenberg K, Wessels T-M (2012) Genetic counseling in South Africa. In: Kumar D (ed) Genomics and health in the developing world. Oxford University Press, Oxford, pp 531–546
Jackson CW, Traub RJ, Turnbull AP (2008) Parents’ experiences with childhood deafness: implications for family-centered services. Commun Disord Q 29:82–98
Jackson CW, Turnbull A (2004) Impact of deafness on family life: a review of the literature. Top Early Child Spec Educ 24:15–29
James CA, Hadley DW, Holtzman NA, Winkelstein JA (2006) How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma, and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases. Genet Med 8(4):234
Kaimal G, Steinberg AG, Ennis S, Harasink SM, Ewing R, Li Y (2007) Parental narratives about genetic testing for hearing loss: a one year follow up study. J Genet Couns 16(6):775–787
Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G et al (1997) Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387(6628):80–83
Kessler S, Kessler H, Ward P (1984) Psychological aspects of genetic counseling. III. Management of guilt and shame. Am J Med Genet 17(3):673–697
Kilian S, Swartz L, Joska J (2010) Competence of interpreters in a South African psychiatric hospital in translating key psychiatric terms. Psychiatr Serv 61(3):183–200
Lanie AD, Jayaratne TE, Sheldon JP, Kardia SLR, Anderson ES, Feldbaum M et al (2004) Exploring the public understanding of basic genetic concepts. J Genet Couns 13(4):305–320
Lebeko K, Bosch J, Nzeale JJ, Dandara C, Wonkam A (2015) Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward. Pan Afr Med J 20
Lebeko K, Sloan-Heggen CM, Noubiap JJ, Dandara C, Kolbe DL, Ephraim SS et al (2016) Targeted genomic enrichment and massively parallel sequencing identifies novel non-syndromic hearing impairment pathogenic variants in Cameroonian families. Clin Genet
Middleton A, Emery SD, Turner GH (2010) Views, knowledge, and beliefs about genetics and genetic counseling amoung deaf people. Sign Lang Stud 10(2):170–196
Middleton A, Hewison J, Mueller R (2001) Prenatal diagnosis for inherited deafness—what is the potential demand? J Genet Couns 10(2):121–131
Murray CJ, Barber RM, Foreman KJ, Abbasoglu Ozgoren A, Abd-Allah F, Abera SF, Aboyans V, Abraham JP, Abubakar I, Abu-Raddad LJ, Abu-Rmeileh NM, Achoki T, Ackerman IN, Ademi Z, Adou AK, Adsuar JC, Afshin A, Agardh EE, Alam SS, Alasfoor D, Albittar MI, Alegretti MA, Alemu ZA, Alfonso-Cristancho R, Alhabib S et al (2015) Global, regional, and national disability-adjusted life years (DALYs) for 306 diseases and injuries and healthy life expectancy (HALE) for 188 countries, 1990-2013: quantifying the epidemiological transition. Lancet 386(10009):2145–91
Parker MJ, Fortnum HM, Young ID, Davis AC (2000) Genetics and deafness: what do families want? J Med Genet 37(10):e26–e26
Reagan T, Penn C, Ogilvy D (2006) From policy to practice: sign language developments in post-apartheid South Africa. Lang Policy 5(2):187–208
Rodrigues F, Paneque M, Reis C, Venâncio M, Sequeiros J, Saraiva J (2013) Non-syndromic sensorineural prelingual deafness: the importance of genetic counseling in demystifying parents’ beliefs about the cause of their children’s deafness. J Genet Couns 22(4):448–454
Smith J, Firth J (2011) Qualitative data analysis: the framework approach. Nurse Res 18(2):52–62
Smith, R. J. H., Shearer, E. A., Hildebrand, M. S., & Van Camp, G. (2014). Deafness and Hereditary Hearing Loss Overview: University of Washington, Seattle
Solovyev AV, Dzhemileva LU, Posukhu OL, Barashkov NA, Bady-Khoo MS, Lobov SL et al (2017) Opinions of hearing parents about the causes of hearing impairment of their children with biallelic GJB2 mutations. J Community Genet:1–5
Steinberg A, Kaimal G, Ewing R, Soslow LP, Lewis KM, Krantz I et al (2007) Parental narratives of genetic testing for hearing loss: audiologic implications for clinical work with children and families. Am J Audiol 16(1)
Tindana P, De Vries J, Campbell M, Littler K, Seeley J, Marshall P et al (2015) Community engagement strategies for genomic studies in Africa: a review of the literature. BMC Med Ethics 16(1):24
van der Spuy, T., & Pottas, L. (2008). Infant hearing loss in South Africa: age of intervention and parental needs for support. Int J Audiol, 47(s1), 30–35
Weil J (2000) Psychosocial genetic counseling. Oxford University Press, USA, New York
WHO. (2010). Community genetics services: report of a WHO consultation on community genetics in low- and middle-income countries. Retrieved from Geneva, Switzerland:
Wonkam A (2015) Letter to the editor regarding “GJB2, GJB6 or GJA1 genes should not be investigated in routine in non syndromic deafness in people of sub-Saharan African descent”. Int J Pediatr Otorhinolaryngol 79(4):632–633
Acknowledgments
The authors would like to thank the parents who participated in this research.
Funding
The study was funded by the Medical Research Council, South Africa, Self-initiated research to AW, and the Wellcome Trust/AESA Ref: H3A/18/001, to AW, NIH, USA, grant number U01HG009716 to AW.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
The authors declare that they have no conflict of interest.
Research involving human participants
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (University of Cape Town’s Human Research Ethics Committee) and with the Helsinki Declaration of 1975, as revised in 2000.
Informed consent
Informed consent was obtained from all participants included in the study. The study was approved by the Faculty of Health Sciences Human Research Ethics Committee at the University of Cape Town (HREC 699/2015).
Rights and permissions
About this article
Cite this article
Gardiner, S.A., Laing, N., Mall, S. et al. Perceptions of parents of children with hearing loss of genetic origin in South Africa. J Community Genet 10, 325–333 (2019). https://doi.org/10.1007/s12687-018-0396-y
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12687-018-0396-y