Explanatory models for the cause of Fragile X Syndrome in rural Cameroon.

Among the myriad causes of intellectual disability (ID), Fragile X Syndrome (FXS) is the leading genetic cause. Yet, little is known of how people affected by this condition make sense of it. The present study aimed to investigate the explanatory models for the causes of FXS in an extended family mainly affected by this condition and members of the village from which they originated in Cameroon. Using an ethnographic approach, 92 participants were interviewed (59 females and 33 males) through 10 focus group discussions and 23 in-depth interviews between April 2018 and February 2020. Data analysis revealed four explanatory models regarding the etiologies of FXS in the community. Firstly, the curse model described a curse from the chief because of the belief that his wives did not mourn his intellectually disabled servant. Secondly, the spiritual model relates FXS to a punishment from God. Thirdly, the socioeconomic model attributes FXS to events in the prenatal and perinatal periods. Finally, the genetic model describes the pattern of inheritance of the disease in the family. This paper helps to understand the explanatory disease models that exist for FXS in rural Cameroon and could inform genetic counseling practices, community genetic education, and policymakers when drafting protocols for public engagement activities.

Negotiating political power and stigma around fragile X Syndrome in a rural village in Cameroon: A tale of a royal family and a community.

BACKGROUND: 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. METHOD: 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. RESULTS: 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. CONCLUSION: 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.

Knowledge and Challenges Associated With Hearing Impairment in Affected Individuals From Cameroon (Sub-Saharan Africa).

Background: This study aimed to gain an understanding of the challenges faced by people with hearing impairment (HI) in Cameroon, their understanding of the causes of HI, and how challenges could be remedied to improve the quality of life of persons with HI. Methods: Semi-structured one-on-one in-depth interviews and observation of participant behaviour when answering questions were used to collect data from 10 HI professionals (healthcare workers and educationists), and 10 persons affected by HI (including caregivers). Results: The results show that the different groups associate the causes of HI to genetics, environmental factors, and a spiritual curse. There were reported cases of stigma and discrimination of persons with HI, with people sometimes referring to HI as an "intellectual disorder." Interviewees also highlighted the difficulty persons with HI have in accessing education and healthcare services and suggested the need for the government and health researchers to develop strategies for the prevention and early diagnosis of HI. These strategies include (1) the awareness of the general population regarding HI, (2) the development of facilities for the proper management and new-born screening of HI, and (3) the implementation of a premarital screening to reduce the burden of HI of genetic origin. Conclusions: This study confirms the difficult social interaction and access to proper management faced by persons with HI in Cameroon and further highlights the need to educate populations on the causes of HI for a better acceptance of individuals with HI in the Cameroonian society.

Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa).

Fragile X Syndrome (FXS), an X-linked dominant monogenic condition, is the main genetic cause of intellectual disability (ID) and autism spectrum disorder (ASD). FXS is associated with an expansion of CGG repeat sequence in the Fragile X Mental Retardation gene 1 (FMR1) on chromosome X. Following a neuropediatric assessment of two male siblings who presented with signs of FXS that was confirmed with molecular testing, we provided cascade counselling and testing to the extended family. A total of 46 individuals were tested for FXS; among them, 58.70% (n = 27) were females. The mean age was 9.4 (±5) years for children and 45.9 (±15.9) years for adults. Pedigree analysis suggested that the founder of these families was likely a normal transmitting male. Four out of 19 males with clinical ID were confirmed to have a full mutation for FXS, while 14/27 females had a pathologic CGG expansion (>56 CGG repeats) on one of their X chromosomes. Two women with premature menopause were confirmed of being carriers of premutation (91 and 101 CGG repeats). We also identified maternal alleles (91 and 126 CGG repeats) which expanded to a full mutation in their offspring (>200 CGG repeats). This study is a rare report on FXS from Africa and illustrates the case scenario of implementing genetic medicine for a neurogenetic condition in a rural setting.