Knowledge and perceptions about fragile X syndrome and fragile X-premutation-associated conditions among medical doctors in Nigeria.

Journal: Clinical genetics

Volume: 107

Issue: 1

Year of Publication: 2024

Affiliated Institutions:  Department of Paediatrics, Faculty of Medicine, College of Health Sciences, Nnamdi Azikiwe University, Nnewi Campus, Nnewi, Anambra, Nigeria. University of California Davis MIND Institute, Sacramento, California, USA. Department of Paediatrics, Benue State University and Teaching Hospital, Makurdi, Nigeria. Department of Obstetrics, Faculty of Medicine, College of Health Sciences, Nnamdi Azikiwe University, Nnewi Campus, Nnewi, Nigeria. Department of Obstetrics and Gynaecology, Federal Medical Centre, Asaba, Nigeria. Department of Paediatrics, Lagos University Teaching Hospital, Idi Araba, Nigeria. Department of Medicine, Faculty of Medicine, College of Health Sciences, Nnamdi Azikiwe University, Nnewi Campus, Nnewi, Nigeria. Department of Surgery, Nuffield Health Ipswich Hospital, Ipswich, UK. Department of Community Medicine, Faculty of Medicine, College of Health Sciences, Nnamdi Azikiwe University, Nnewi campus, Nnewi, Nigeria.

Abstract summary 

Fragile X syndrome (FXS) is a significant cause of intellectual disability and autism, while Fragile X Premutation -Associated Conditions (FXPAC) are a significant cause of morbidity and mortality globally. This study assessed the level of knowledge and perceptions about FXS and FXPAC among doctors in Nigeria. It was a web-based, cross-sectional study conducted among a cohort of doctors in Nigeria. Socio-demographic profile, knowledge of FXS, perceptions about FXS, knowledge of FXPAC, experience of doctors, and suggested ways of improving knowledge and management of FXS were obtained. Data were analyzed using STATA 16.0. Chi-square and Fisher's exact tests of association were used to determine the association between variables, with the significance level set at p < 0.05. A total of 274 doctors participated in the study. A significant proportion of respondents had limited knowledge about the clinical features of FXS. Nine of ten (90.0%) participants with good knowledge of FXS had good perceptions of FXS management. This was statistically significant (p < 0.001). There was a high nonresponse rate to what FXPAC is (164/274, 59.9%) among the respondents because of insufficient knowledge. Suboptimal knowledge of FXS which influenced perception was noted among doctors. More strategies should be considered to improve doctors' knowledge and management of FXS and FXPAC in Nigeria.

Authors & Co-authors:  Mbachu Chioma N P CNP Hagerman Randi R Eseigbe Edwin E Odita Amalachukwu A Mbachu Ikechukwu I Ilikanu Samuel S Akowundu Kasarachi K Ndukwu Chizalu C Echezona Malachy M Okereke Onyedikachi O Echendu Sylvia S Udigwe Ifeoma I

Study Outcome 

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Statistics
Citations :  Hagerman RJ. Overview of FXS and fragile X spectrum disorders. In: Hagerman Randi J, Hagerman Paul J, eds. Fragile X Syndrome and Premutation Disorders Clinics in Developmental Medicine Fragile X Syndrome and Premutation Disorders New Developments and Treatments. Mac Keith Press; 2020:1‐4.
Authors :  12
Identifiers
Doi : 10.1111/cge.14619
SSN : 1399-0004
Study Population
Male,Female
Mesh Terms
Humans
Other Terms
FXS and FXPAC;Nigeria;doctors;experience;fragile X knowledge;perception
Study Design
Cross Sectional Study,Cohort Study
Study Approach
Country of Study
Niger
Publication Country
Denmark