Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Department of Human Genetics, Emory Healthcare, Winship Cancer Institute, Emory University School of Medicine, Atlanta, GA, USA.
J Racial Ethn Health Disparities. 2024 Dec;11(6):3390-3400. doi: 10.1007/s40615-023-01792-2. Epub 2023 Sep 15.
This study aims to understand the healthcare experiences of African American women with a fragile X premutation (PM). PM carriers are at risk for fragile X-associated conditions, including primary ovarian insufficiency (FXPOI) and neuropsychiatric disorders (FXAND). There is no racial/ethnic association with carrying a PM, but African American women historically experience barriers receiving quality healthcare in the USA. Obstacles to care may increase mental health conditions like anxiety and depression. Eight African American women with a PM were interviewed to explore disparities in receiving healthcare and to learn about psychosocial experiences during and after their diagnoses. Interviews were transcribed verbatim and independently coded by two researchers. A deductive-inductive approach was used, followed by thematic analysis to determine prominent themes. The average participant age was 52.3 ± 8.60 years, with a mean age at premutation diagnosis of 31 ± 5.95 years. Seven participants had children with FXS. Themes from interviews included healthcare experiences, family dynamics, and emotional/mental health after their diagnosis. Participants reported concerns about not being taken seriously by providers and mistrust of the medical institutions. Within families, participants reported denial, insensitivity, and isolation. Participants reported a high incidence of anxiety and depression. Both are symptoms of FXAND and stresses of systemic racism and sexism. The reported family dynamics around the news of a genetic diagnosis stand apart from other racial cohorts in fragile X research: interventions like family counseling sessions and inclusive support opportunities from national organizations could ease the impacts of a PM for African American women.
本研究旨在了解脆性 X 前突变 (PM) 非洲裔美国女性的医疗保健体验。PM 携带者有患脆性 X 相关疾病的风险，包括原发性卵巢功能不全 (FXPOI) 和神经精神障碍 (FXAND)。携带 PM 与种族/民族无关，但非洲裔美国女性在历史上在美国接受高质量医疗保健方面存在障碍。护理障碍可能会增加焦虑和抑郁等心理健康状况。对 8 名携带 PM 的非裔美国女性进行了访谈，以探讨在接受医疗保健方面的差异，并了解她们在诊断期间和之后的社会心理体验。访谈内容逐字转录，并由两名研究人员独立编码。采用演绎归纳方法，然后进行主题分析以确定主要主题。参与者的平均年龄为 52.3 ± 8.60 岁，PM 诊断的平均年龄为 31 ± 5.95 岁。7 名参与者有患有 FXS 的孩子。访谈主题包括医疗保健体验、家庭动态以及诊断后的情绪/心理健康。参与者报告称，他们担心提供者不认真对待他们，并对医疗机构不信任。在家庭中，参与者报告了否认、麻木不仁和孤立。参与者报告说焦虑和抑郁的发生率很高。这两种情况都是 FXAND 的症状，也是系统性种族主义和性别歧视的压力。围绕遗传诊断的家庭动态与脆性 X 研究中的其他种族群体不同：干预措施，如家庭咨询会议和来自国家组织的包容性支持机会，可以减轻非洲裔美国女性 PM 的影响。
