Africa, the ancestral home of all modern humans, is the most informative continent for understanding the human genome and its contribution to complex disease. To better understand the genetics of schizophrenia, we studied the illness in the Xhosa population of South Africa, recruiting 909 cases and 917 age-, gender-, and residence-matched controls. Individuals with schizophrenia were significantly more likely than controls to harbor private, severely damaging mutations in genes that are critical to synaptic function, including neural circuitry mediated by the neurotransmitters glutamine, γ-aminobutyric acid, and dopamine. Schizophrenia is genetically highly heterogeneous, involving severe ultrarare mutations in genes that are critical to synaptic plasticity. The depth of genetic variation in Africa revealed this relationship with a moderate sample size and informed our understanding of the genetics of schizophrenia worldwide.

Background.Intimate partner violence (IPV) during pregnancy is prevalent across the world, but more so in low- and middle-income countries. It is associated with various adverse outcomes for mothers and infants. This study sought to determine the prevalence and predictors of IPV among pregnant women attending one midwife and obstetrics unit (MOU) in the Western Cape, South Africa.Methods.A convenience sample of 150 pregnant women was recruited to participate in the study. Data were collected using several self-report measures concerning the history of childhood trauma, exposure to community violence, depression and alcohol use. Multivariable logistic models were developed, the first model was based on whether any IPV occurred, the remaining models investigated for physical-, sexual- and emotional abuse.Results.Lifetime and 12-month prevalence rates for any IPV were 44%. The 12-month IPV rates were 32% for emotional and controlling behaviours, 29% physical and 20% sexual abuse. The adjusted model predicting physical IPV found women who were at risk for depression were more likely to experience physical IPV [odds ratios (ORs) 4.42, 95% confidence intervals (CIs) 1.88–10.41], and the model predicting sexual IPV found that women who reported experiencing community violence were more likely to report 12-month sexual IPV (OR 3.85, CI 1.14–13.08).Conclusion.This is the first study, which illustrates high prevalence rates of IPV among pregnant woman at Mitchells Plain MOU. A significant association was found between 12-month IPV and unintended pregnancy. Further prospective studies in different centres are needed to address generalisability and the effect of IPV on maternal and child outcomes.

BackgroundScreening, brief intervention, and referral to treatment (SBIRT) for risky substance use is infrequently included in routine healthcare in low-resourced settings. A SBIRT programme, adopted by the Western Cape provincial government within an alcohol harm reduction strategy, employed various implementation strategies executed by a diverse team to translate an evidence-based intervention into services at three demonstration sites before broader programme scale-up. This paper evaluates the implementation of this programme delivered by facility-based counsellors in South African emergency centres.MethodGuided by the Consolidated Framework for Implementation Research, this mixed methods study evaluated the feasibility, acceptability, appropriateness and adoption of this task-shared SBIRT programme. Quantitative data were extracted from routinely collected health information. Qualitative interviews were conducted with 40 stakeholders in the programme’s second year.ResultsIn the first year, 13 136 patients were screened and 4 847 (37%) patients met criteria for risky substance use. Of these patients, 83% received the intervention, indicating programme feasibility. The programme was adopted into routine services and found to be acceptable and appropriate, particularly by stakeholders familiar with the emergency environment. These stakeholders highlighted the burden of substance-related harm in emergency centres and favourable patient responses to SBIRT. However, some stakeholders expressed scepticism of the behaviour change approach and programme compatibility with emergency centre operations. Furthermore, adoption was both facilitated and hampered by a top-down directive from provincial leadership to implement SBIRT, while rapid implementation limited effective engagement with a diverse stakeholder group.ConclusionThis is one of the first studies to address SBIRT implementation in low-resourced settings. The results show that SBIRT implementation and adoption was largely successful, and provide valuable insights that should be considered prior to implementation scale-up. Recommendations include ensuring ongoing monitoring and evaluation, and early stakeholder engagement to improve implementation readiness and programme compatibility in the emergency setting.

BackgroundCell line immortalisation is a growing component of African genomics research and biobanking. However, little is known about the factors influencing consent to cell line creation and immortalisation in African research settings. We contribute to addressing this gap by exploring three questions in a sample of Xhosa participants recruited for a South African psychiatric genomics study: First, what proportion of participants consented to cell line storage? Second, what were predictors of this consent? Third, what questions were raised by participants during this consent process?Methods760 Xhose people with schizophrenia and 760 controls were matched to sex, age, level of education and recruitment region. We used descriptive statistics to determine the proportion of participants who consented to cell line creation and immortalization. Logistic regression methods were used to examine the predictors of consent. Reflections from study recruiters were elicited and discussed to identify key questions raised by participants about consent.ResultsApproximately 40% of participants consented to cell line storage. The recruiter who sought consent was a strong predictor of participant’s consent. Participants recruited from the South African Eastern Cape (as opposed to the Western Cape), and older participants (aged between 40 and 59 years), were more likely to consent; both these groups were more likely to hold traditional Xhosa values. Neither illness (schizophrenia vs control) nor education (primary vs secondary school) were significant predictors of consent. Key questions raised by participants included two broad themes: clarification of what cell immortalisation means, and issues around individual and community benefit.ConclusionsThese findings provide guidance on the proportion of participants likely to consent to cell line immortalisation in genomics research in Africa, and reinforce the important and influential role that study recruiters play during seeking of this consent. Our results reinforce the cultural and contextual factors underpinning consent choices, particularly around sharing and reciprocity. Finally, these results provide support for the growing literature challenging the stigmatizing perception that people with severe mental illness are overly vulnerable as a target group for heath research and specifically genomics studies.Electronic supplementary materialThe online version of this article (10.1186/s12910-018-0313-2) contains supplementary material, which is available to authorized users.

Background Screening, brief intervention and referral to treatment (SBIRT) programmes have resulted in generally positive outcomes in healthcare settings, particularly for problem alcohol use, yet implementation is hampered by barriers such as concerns regarding the burden on healthcare professionals. In low-resourced settings, task-sharing approaches can reduce this burden by using non-professional healthcare workers, yet data are scarce regarding the outcomes and acceptability to patients within a SBIRT service. This study aims to evaluate patient-reported outcomes, patient acceptability, perceived benefits and recommendations for improving a task-shared SBIRT service in South African emergency centres (ECs). Methods This mixed methods study incorporates quantitative substance use screening and patient satisfaction data collected routinely within the service at three hospitals, and qualitative semi-structured interviews with 18 EC patient beneficiaries of the programme exploring acceptability and perceived benefits of the programme, as well as recommendations to improve the service. Approximately three months after the acute EC visit, a sub-sample of patients were followed up telephonically to assess patient-reported satisfaction and substance use outcomes. Results Of the 4847 patients eligible for the brief intervention, 3707 patients (76%) used alcohol as their primary substance and 794 (16%) used cannabis. At follow-up (n = 273), significant reductions in substance use frequency and severity were noted and over 95% of patients were satisfied with the service. In the semi-structured interviews, participants identified the non-judgemental caring approach of the counsellors, and the screening and psychoeducation components of the intervention as being the most valuable, motivating them to decrease substance use and make other positive lifestyle changes. Study participants made recommendations to include group sessions, market the programme in communities and extend the programme’s reach to include a broader age group and a variety of settings. Conclusions This task-shared SBIRT service was found to be acceptable to patients, who reported several benefits of a single SBIRT contact session delivered during an acute EC visit. These findings add to the SBIRT literature by highlighting the role of non-professional healthcare workers in delivering a low-intensity SBIRT service feasible to implement in low-resourced settings.