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

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.

A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa.

Fragile X syndrome (FXS) is a genetic disorder caused by a mutation in the fragile X messenger ribonucleoprotein 1 (FMR1) gene and known to be a leading cause of inherited intellectual disability globally. It results in a range of intellectual, developmental, and behavioral problems. Fragile X premutation-associated conditions (FXPAC), caused by a smaller CGG expansion (55 to 200 CGG repeats) in the FMR1 gene, are linked to other conditions that increase morbidity and mortality for affected persons. Limited research has been conducted on the burden, characteristics, diagnosis, and management of these conditions in Africa. This comprehensive review provides an overview of the current literature on FXS and FXPAC in Africa. The issues addressed include epidemiology, clinical features, discrimination against affected persons, limited awareness and research, and poor access to resources, including genetic services and treatment programs. This paper provides an in-depth analysis of the existing worldwide data for the diagnosis and treatment of fragile X disorders. This review will improve the understanding of FXS and FXPAC in Africa by incorporating existing knowledge, identifying research gaps, and potential topics for future research to enhance the well-being of individuals and families affected by FXS and FXPAC.

Sociodemographic profile of psychoactive substance use among selected secondary school students in rural Nigeria.

OBJECTIVES: Use of Psychoactive substances by young people poses an important public health threat despite mass campaigns and education. There have been documentations of rise in prevalence and use of psychoactive substances by Nigerian adolescents in urban areas of Nigeria. Few reports exist on in-school adolescents in rural areas, and differences in their sociodemographic profile such as public/private school attendance, day/boarding status and socioeconomic status of students. The study determined the rate and sociodemographic profile of psychoactive substance use among secondary school students in selected rural communities in Anambra state, Nigeria. METHODS: This was a cross-sectional study in which multistage sampling was used to select 494 students from selected secondary schools in Anambra state. Data on age, gender, socioeconomic status, student status, school category, alcohol, tobacco and intravenous drug use were obtained using pretested semi-structured questionnaires. Analysis of data was done using IBM SPSS statistics software version 20.0, frequency, percentages and means were calculated, with cross-tabulation done for variables (Chi-square and Fishers exact test where applicable). Level of significance for tests of association set at 5%. RESULTS: A total of 494 participants were studied of which 48.8% (n=241) were males. The mean age was 14.5 ± 1.8 years. The prevalence of lifetime use of psychoactive substance was 22.5%. Prevalence for individual substances were 21.9% (n=108), 1.8% (n=9) and 0.8% (n=4) respectively for alcohol, tobacco and illicit intravenous drugs. Neither gender {6 males (2.5%), 3 females (1.2%), p=0.890}, age {10-13 years (1.3%), 14-16 years (2.1%), >16 years (1.7%), p=0.329}, student status {day (2.6%), boarding (1.2%), p=0.320}, social class {upper (0.9%), middle (0.6%), lower (3.1%), p=0.208 } nor school category {private (1.5%), public (2.1%), p=0.742} of students was significantly associated with smoking and respectively. More males (73/241=30.3%, p<0.001) took alcohol than females (35/253 = 13.8%) and this was statistically significant. Participants from the lower socioeconomic class (30.3%, p<0.001) had a significantly higher rate of alcohol consumption than those from the upper (11.8%) and middle classes (16.7%) respectively. Higher rate was noted among those who attended public schools (30.8%, p<0.001) compared to those who attended private schools (13.8%). Day students (30.2%, p<0.001) indulged more in alcohol than boarding students (14.3%). There was no association between either the class (junior=22.5%, senior=21.3%, p=0.759) or age of participants (10-13 years=20.7%, 14-16 years=20.1%, >16 years=33.3%, p=0.071) and alcohol consumption. No association was found between age (0.7%, 1.1%, p=1.000), gender (male=1.2%, female=0.4%, p=0.362), social class (lower=1.3%, upper=0.9%, p=0.443), student status (day=0.9%, boarding=0.8%, p=1.000), school category (junior=0.8%, senior=0.8%, p=1.000) and intravenous drug use. CONCLUSIONS: The rate of about 22% alcohol use by secondary school students in rural south eastern Nigeria, which is strongly associated with male gender, low socioeconomic status, day student status and public school attendance is high.

Relationship between placenta malaria and mother to child transmission of HIV infection in pregnant women in South East Nigeria.

BACKGROUND: This study determined the rate of mother-to-child transmission (MTCT) of HIV among HIV positive women with placenta malaria and factors associated with placenta malaria. METHODS: This was a prospective observational study of booked HIV positive pregnant women in labour. A smear for malaria parasite was made from blood taken from the placental tissue post-delivery. The baby HIV testing was done with DNA polymerase chain reaction at 6 weeks postpartum. Data on age, parity, gestational age, religion, address, highest educational attainment and knowledge about malaria prevention in pregnancy was obtained with questionnaires and analysed using SPSS version 20. The P-value was set at 0.05 providing a confidence interval of 95%. RESULTS: A total of 174 booked HIV women participated in this study. The placental malaria parasitaemia prevalence was 44.8%. Overall rate of MTCT of HIV infection was 17.2%. Number of infants with HIV infection among women with maternal placental malarial parasitaemia was 30/78 (38.5%), while it was 0/96 (0%) for women without placenta malaria. There was significant relationship between placenta malaria density and infant HIV status (P-value = 0.001). The relative risk for MTCT of HIV for women with placenta malaria Density > 5000 was 25% with 95% confidence interval of 11.41-54.76%. CONCLUSION: The mother-to-child transmission rate of HIV was high among HIV positive women with placental malaria parasitaemia. There is the need to review the malarial treatment and prophylactic measures at least in this group of women and to establish the nature of relationship between placenta malaria and MTCT of HIV infection.