Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Department of Pediatrics, Faculty of Medicine and Biomedical Sciences, University of Yaoundé 1, Yaoundé, Cameroon.
Mol Genet Genomic Med. 2021 Mar;9(3):e1615. doi: 10.1002/mgg3.1615. Epub 2021 Feb 5.
Fragile X Syndrome (FXS) is a neurogenetic condition that significantly impacts the lives of affected individuals and their families due to its association with intellectual disability (ID) and stigma.
In this paper, we present the findings of an ethnographic study in the community of a patient who received a genetic diagnosis for FXS in Cameroon. This study builds on data from 28 participants of a royal family and 58 from the community who participated in 20 in-depth interviews and nine focus group discussions.
We identified two types of stigma in this community: public stigma directed towards the royal family and associative stigma experienced by royal family members. We outline the stereotyping labels used for the family and its children with Fragile X Syndrome and describe the stigma-power dynamic between the community members and the royal family. First, most villagers use less stigmatizing terms to addressing FXS children from the chieftaincy because of their position in society. Secondly, due to their social position, the royal family uses their status to negotiate marriages with community members. From these observations, we can suggest that the primary role of stigma in this community is to keep people away from FXS and keep them down through domination and exploitation.
We advocate that other researchers examine if the same pattern exists in other inheritable forms of ID and conduct more qualitative research on FXS in Africa.
脆性 X 综合征 (FXS) 是一种神经遗传疾病，由于其与智力障碍 (ID) 和污名相关，因此对受影响个体及其家庭的生活产生重大影响。
在本文中，我们展示了在喀麦隆的一个社区中对一名接受 FXS 基因诊断的患者进行的人种学研究的结果。该研究基于来自一个皇室的 28 名参与者和社区的 58 名参与者的数据，他们参加了 20 次深入访谈和 9 次焦点小组讨论。
我们在这个社区中发现了两种类型的污名：针对皇室的公众污名和皇室成员经历的连带污名。我们概述了用于该家庭及其患有脆性 X 综合征的孩子的刻板印象标签，并描述了社区成员和皇室之间的污名权力动态。首先，由于他们在社会中的地位，大多数村民在称呼酋长领地的脆性 X 综合征儿童时使用的污名较少。其次，由于他们的社会地位，皇室利用他们的地位与社区成员协商婚姻。从这些观察中，我们可以认为污名在这个社区中的主要作用是通过支配和剥削来使人远离脆性 X 综合征并使他们处于劣势。
我们主张其他研究人员检查这种模式是否存在于其他遗传性 ID 形式中，并在非洲对脆性 X 综合征进行更多的定性研究。
