Division of Human Genetics, National Health Laboratory Service, Johannesburg, South Africa.
Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
J Genet Couns. 2021 Jun;30(3):885-899. doi: 10.1002/jgc4.1391. Epub 2021 Feb 18.
Having a child with a genetic disorder directly impacts a couple's relationship due to increased care demands. Most research on couple relationships in the context of having a child with a disability has been done in well-resourced, developed countries. In South Africa, the black South African population has been historically disadvantaged resulting in high rates of unemployment and poverty, and disruption of the family system. The purpose of this study was to explore the impact of having a child with a genetic disorder on the couple relationship in a low socio-economic setting. Thirteen black South African mothers of a child with a confirmed or suspected genetic disorder participated in the study. All participants were recruited while waiting to be seen for a follow-up appointment by a medical geneticist at a Genetic Clinic in Johannesburg, South Africa between 2016 and 2019. Data were collected through semi-structured interviews lasting between 25 and 60 min and analyzed using thematic content analysis. Findings showed that mothers of a child with a genetic disorder in this low socio-economic setting frequently felt unsupported and carried the responsibility of childcare alone. The majority of participants wanted more tangible and emotional support from their partners and without this support they felt isolated and alone. The participants used many different coping strategies to deal with the distress of having a child with a genetic disorder but most frequently they described using 'acceptance'. Participants' partners were more often reported to use escape-avoidance strategies such as abandonment, denying paternity, withdrawal, and partner-blame. We suggest that mothers of a child with a genetic disorder should consult with a genetic counselor in addition to a medical geneticist to enable the provision of emotional support.
生育患有遗传疾病的孩子会直接影响夫妻关系，因为这会增加照顾需求。大多数关于残疾儿童父母关系的研究都是在资源丰富、发达的国家进行的。在南非，黑人南非人一直处于历史劣势地位，导致高失业率和贫困率，以及家庭系统的破裂。本研究的目的是探讨在低社会经济环境中生育患有遗传疾病的孩子对夫妻关系的影响。13 名南非黑人母亲的孩子被确诊或疑似患有遗传疾病，参与了这项研究。所有参与者都是在 2016 年至 2019 年期间，在南非约翰内斯堡的一家遗传诊所等待接受医学遗传学家随访预约时招募的。通过持续 25 至 60 分钟的半结构化访谈收集数据，并使用主题内容分析进行分析。研究结果表明，在这种低社会经济环境中，患有遗传疾病的孩子的母亲经常感到无人支持，独自承担育儿责任。大多数参与者希望从伴侣那里获得更多有形和情感上的支持，如果没有这种支持，她们会感到孤立和孤独。参与者使用了许多不同的应对策略来应对生育患有遗传疾病的孩子的痛苦，但最常见的是她们描述了“接受”。据报道，参与者的伴侣更常使用逃避-回避策略，如遗弃、否认父子关系、退缩和指责伴侣。我们建议，患有遗传疾病的孩子的母亲除了咨询医学遗传学家外，还应咨询遗传咨询师，以提供情感支持。
