Background and Aims:Down syndrome (DS) affects approximately 1 in 700 to 1000 live births globally. Children with DS often face feeding difficulties that arise from low muscle tone and oral-motor dysfunction, making complementary feeding initiation particularly challenging. Despite the role of caregivers in addressing these challenges, research on their feeding patterns in low-resource settings like Rwanda is scarce. Therefore, we aimed at exploring the feeding patterns of caregivers of children with DS in Rwanda. Methods:We employed a qualitative exploratory design involving 34 caregivers from four hospitals. Participants were recruited through convenience sampling. Twenty-eight people participated in focus group discussions (FGDs), while six took part in in-depth interviews (IDIs). The level of saturation determined the number of FGDs and IDIs. Informed consent was obtained before participation, and data collectors were granted permission to audio-record the interviews. The collected data were subsequently transcribed and analyzed thematically. Results:Caregivers reported different developmental delays in children with DS, affecting timely initiation and progression of complementary feeding. Feeding challenges were more pronounced in children with DS compared to those without, with delays in food introduction and age-related changes in food consistency. Financial constraints and anatomical anomalies further contributed to difficulties in adequately feeding children with DS. Participants reported receiving necessary support for caring for their children from local authorities, healthcare facilities, and family members. However, some participants reported that male partners did not provide adequate support in caring for their children, with some husbands even abandoning the household following the diagnosis of DS. Conclusion:Caregivers of children with DS indicated that these children have developmental delays that negatively impact their feeding. They emphasized that financial issues and their anatomical anomalies contribute to feeding difficulties. Many participants also noted that insufficient support from male partners hinders their ability to provide proper nutrition.

Cervical cancer is driven by long persisting high-risk HPV infections(hrHPV). HIV+ women with hrHPV co-infections are sixfold more likely to develop cervical cancer compared with HIV- women. To inform Rwandan policy on HPV vaccines and screening strategies, we assessed the distribution of hrHPV types in cervical cancer tissue overall and by HIV status. We retrieved all cervical squamous cell carcinomas (SCCs) diagnosed between 2018 and 2021 from three referral health facilities in Kigali, Rwanda (n = 415); tissues for 107 cases could not be retrieved. Of the remaining 308 cases, the H E-stained slides from formalin-fixed, paraffin-embedded tissue for every case underwent a histological review, medical records were extracted, and tissue blocks were selected for HPV genotyping. AmpFire HPV genotyping test (Atila BioSystems, Sunnyvale, CA, USA) was used to test for HPV16, 18, 31, 33, 35, 39, 45, 51, 52, 53, 56, 58, 59, 66, and 68. We compared HPV type distribution by HIV status. STATA 17 (StataCorp LLC, College Station, Texas, USA) was used for data analysis. Two hundred-five cases (60

OBJECTIVE:This study aimed to describe overall survival outcomes by treatment modality among women with International Federation of Gynecology and Obstetrics stage I to IVA cervical cancer treated with external beam radiotherapy using a boost technique in Rwanda, where brachytherapy is unavailable. METHODS:We conducted a retrospective cohort study of women with International Federation of Gynecology and Obstetrics stage I to IVA cervical cancer treated at the Rwanda Cancer Centre/Rwanda Military Teaching Hospital between July 2018 and April 2023. All patients were planned for pelvic external beam radiotherapy with a simultaneous integrated boost (45 Gy to the whole pelvis with a boost to 70 Gy to the primary tumor and involved nodes in 30 fractions) delivered using intensity-modulated radiotherapy. Overall survival was defined as the time from the date of pathologic diagnosis to death or last contact, and was censored at 3 years. Overall survival was estimated using Kaplan-Meier methods and compared using log-rank tests. Multi-variable Cox regression with multiple imputation for missing covariates was used to assess associations between treatment modality and overall survival. RESULTS:Of 591 women seen, 577 met the eligibility criteria. Most (42.7%) presented with stage III disease. Treatment allocation was as follows: no treatment (12.7%), radiotherapy alone (3.9%), concurrent chemoradiotherapy (67.5%), and induction chemotherapy followed by concurrent chemoradiotherapy (15.9%). Two-year overall survival was 13.9% for no treatment, 44.1% for radiotherapy alone, 62.2% for concurrent chemoradiotherapy, and 76.4% for induction chemotherapy plus concurrent chemoradiotherapy. In adjusted models, all active treatment modalities were associated with lower hazards of death compared with no treatment. CONCLUSIONS:In this cohort in which brachytherapy was unavailable, survival among women with cervical cancer was strongly determined by treatment modality. Timely delivery of concurrent chemoradiotherapy, with or without induction chemotherapy, achieved 2-year overall survival comparable to regional reports, whereas absence of treatment was associated with dismal outcomes. These findings reinforce the urgent need to invest in brachytherapy capacity in Rwanda and similar resource-constrained settings.

Periodontal disease has been associated with adverse pregnancy outcomes, but evidence regarding the association between psychoactive substance use and periodontal pathogens during pregnancy remains limited, particularly in low-resource settings. This study examined the association between psychoactive substance use and salivary periodontal pathogen levels among pregnant women in rural Rwanda. This cross-sectional study was a secondary analysis of baseline data from a pregnancy cohort conducted in 2019 at a district hospital in Rwanda. A total of 178 pregnant women participated. Demographic characteristics, oral health behaviors, and psychoactive substance use were assessed using structured questionnaires. Salivary DNA copy numbers of four periodontal pathogens were quantified by quantitative real-time polymerase chain reaction, and associations were evaluated using multivariable generalized linear models. Women with a history of alcohol consumption before pregnancy had significantly higher levels of Tannerella forsythia than women who had never consumed alcohol (fold change 4.78, p = 0.006). Women with a history of drug use before pregnancy had significantly lower levels of Prevotella intermedia (fold change 0.29, p = 0.011), while women with a history of dental visits had significantly lower levels of Porphyromonas gingivalis (fold change 0.04, p = 0.014). These findings suggest that pre-pregnancy lifestyle factors and oral health behaviors are associated with the maternal oral microbial environment during pregnancy. However, because of the cross-sectional design, causal relationships and their potential implications for maternal and pregnancy outcomes could not be determined. Further longitudinal and mechanistic studies are warranted to clarify these associations and their potential clinical significance.

Substandard and falsified (S F) antimalarial medicines undermine malaria control efforts across sub-Saharan Africa, with an estimated 19

BACKGROUND:Podoconiosis is a neglected tropical disease (NTD) causing chronic lower limb lymphoedema through prolonged barefoot exposure to irritant volcanic soils. Despite affecting an estimated 4 million people globally, podoconiosis remains absent from the Global Burden of Disease study and severely under-researched relative to its impact. East Africa carries the greatest regional burden, yet no comprehensive synthesis of prevalence, disability-adjusted life years (DALYs), or economic burden data exists for the region. This systematic review and meta-analysis aimed to address this gap by synthesizing available evidence on the prevalence and health and economic burden of podoconiosis across East Africa. METHODS:We conducted a systematic search of PubMed/MEDLINE, EMBASE, SCOPUS, Web of Science, EconLit, WHO AFROLIB, and Google Scholar for studies published in English between 2011 and 2023. Studies reporting population-based podoconiosis prevalence, DALYs, or economic burden data from East African countries as defined by the UN M49 geoscheme were eligible for inclusion. Grey literature was also searched, including reports, ministry of health documents, and conference proceedings both in English and French, to capture evidence not indexed in academic databases. The search was updated in March 2026 to ensure the most current evidence was captured. Quality assessment was performed using the Newcastle-Ottawa Scale. Prevalence data were pooled using a random-effects model with the DerSimonian-Laird estimator and Freeman-Tukey double arcsine transformation. Subgroup analyses were conducted by country, sample size, and geographic scope. RESULTS:Fourteen studies met the inclusion criteria, comprising 10 from Ethiopia, 2 from Kenya, and 1 each from Uganda and Rwanda, collectively examining 1,720,437 individuals. The overall pooled prevalence was 1.19 (95% CI: 1.14-1.25) on the transformed scale, with extreme heterogeneity (I² = 99.0%). The Ethiopia-specific pooled prevalence was 4.52% (95% CI: 3.92-5.16%), compared to 0.20% (95% CI: 0.10-0.33%) for the non-Ethiopian subgroup, a more than 20-fold difference. A consistent inverse relationship between sample size and observed prevalence was identified across all analyses, reflecting the systematic tendency of smaller studies to target confirmed endemic foci while larger surveys captured broader populations. Only one study Deribe et al. (2020), reported DALY and economic burden estimates, confined to Ethiopia, estimating 172,073 DALYs annually and a total economic burden of US$213.2 million per year. CONCLUSION:Podoconiosis imposes a substantial but profoundly under-quantified burden across East Africa, with disease intensity disproportionately concentrated in Ethiopian highland communities. The near-complete absence of DALY and economic burden data outside Ethiopia represents a critical evidence gap. Standardised nationally representative surveys, expansion of burden modelling beyond Ethiopia, and advocacy for inclusion of podoconiosis in the Global Burden of Disease study are urgently needed to support evidence-based policy and resource prioritisation across the region. This systematic review was registered in the PROSPERO International Prospective Register of Systematic Reviews with the registration number: CRD42023432640.

Review objectives: This scoping review aims to map the extent and nature of digital, biomarker, and multi-omics evidence on stress and cardiometabolic health trajectories among women in Sub-Saharan Africa, with particular attention to hypertension, glycemic and diabetes-related outcomes, adiposity and obesity, dyslipidemia, metabolic syndrome, pregnancy-related cardiometabolic conditions, and cardiovascular sequelae. In addition, the review will consider patterns of vulnerability and potential indicators of cardiometabolic resilience, defined broadly as the capacity to maintain or regain health despite exposure to stressors, where these are explicitly examined or can be inferred from study findings. Cardiometabolic markers are being captured alongside real-time physiological and behavioral data through digital tools and wearable technologies, providing opportunities for early detection, continuous monitoring, and risk stratification of cardiometabolic disorders (CMDs). The review will further assess the degree of integration across these domains, while identifying key research gaps and emerging methodological trends. Methods: The review will follow the Joanna Briggs Institute methodology for scoping reviews and will be reported in accordance with the PRISMA extension for Scoping Reviews. A comprehensive search will be conducted across electronic databases, including MEDLINE (PubMed), Embase, Scopus, Web of Science Core Collection, CINAHL, PsycINFO, Global Index Medicus, the Cochrane Library, and IEEE Xplore, as well as grey literature sources such as Google Scholar, World Health Organization Institutional Repository for Information Sharing, and the World Bank Open Knowledge Repository using pre-specified Boolean operators and keywords. Studies published in English from January 2015 to the date involving women aged 18 years and above in Sub-Saharan Africa that examine stress in relation to cardiometabolic outcomes using digital, biomarker, and/or multi-omics approaches will be included. Findings will be synthesized descriptively, with evidence stratified by cardiometabolic domain where feasible, including blood pressure and hypertension, glycemic and diabetes-related outcomes, adiposity and obesity, lipid-related outcomes, pregnancy-related cardiometabolic conditions, and broader cardiovascular outcomes.

In 2024, the World Health Organization declared Mpox outbreak a Public Health Emergency of International Concern. The epicenter of this outbreak was the Democratic Republic of Congo (DRC), which is a member of the East African Community (EAC). The majority of EAC countries reported Mpox cases and associated deaths. Mpox outbreak negatively affected EAC member states but triggered the strengthening of diagnostic and surveillance capacity. This review assessed the status, containment measures, challenges, and future directions of Mpox in the EAC. As of July 27, 2025, the DRC was the top country in the world with Mpox with 28,165 cases and 69 deaths, followed by Uganda, Burundi, Kenya, Rwanda, Tanzania, and South Sudan with 7648 cases and 48 deaths, 4231 cases and one death, 281 cases and five deaths, 124 cases, 111 cases, and 17 cases, respectively. Rwanda, Tanzania, and South Sudan have not recorded any death associated with Mpox. The DRC, Uganda, and Burundi experienced extensive transmission rates, whereas Kenya and Uganda had higher case fatality rates of 1.78 and 0.63, respectively. Containment measures in EAC countries included enhanced surveillance, public awareness campaigns, training on infection prevention and control, and vaccination. Of the 801,000 Modified Vaccinia Ankara-Bavarian Nordic (MVA-BN) vaccine doses administered, over 73% were administered in the DRC. Challenges, including inadequate healthcare infrastructure and misinformation, affected Mpox control measures. This study underlines the need for a joint regional strategy to strengthen outbreak preparedness and ensure equitable access to resources to build resilience against emerging infectious diseases.

Background:Few studies have explored the effectiveness of the Community-Based Approach (CBA) on the reduction of intimate partner violence (IPV) exposure and its outcomes in Rwanda. This study, therefore, aimed at assessing the effectiveness of the Community-Based Approach (CBA) for IPV victimisation and perpetration as well as its associated mental health outcomes in Rwanda. Methods:A randomised controlled trial was conducted on a sample of 32 couples, with 17 couples assigned in treatment group and 15 assigned in control group. Data analyses were computed using mixed ANOVAs to evaluate the effect of CBA over IPV occurrence and mental health outcomes. Results:The results revealed a noticeable difference across the time points for IPV, anxiety, and depression, while the difference was not significant for PTSD. All variables showed a significant difference between groups, including IPV, anxiety, depression, and PTSD. Additionally, there was a meaningful interaction between time and group for IPV, anxiety, and depression. A similar interaction was also observed between time and sex for both anxiety and depression. Notably, both males' and females' IPV scores decreased to nearly the same level, while anxiety and depression scores declined more in females than in males. Conclusion:Our findings highlight substantial efficacy of CBA for victims and perpetrators of IPV in reducing IPV, anxiety and depression symptoms in Rwanda, a post-genocide country.

Abstract Germline data from African populations remain sparse, limiting characterization of population-specific BRCA1 /2 pathogenic variants. In a study of 175 Rwandan women with breast cancer, 7 unrelated carriers (4% of cases; 22% of pathogenic variant carriers) harbored the same BRCA1 frameshift variant, c.4065_4068del (p.Asn1355Lysfs*10), which is extremely rare in gnomAD yet recurrent in European, Asian, and Middle Eastern cohorts. Whole-exome sequencing and haplotype analysis of all 7 carriers revealed a shared ancestral block of approximately 581 kb surrounding the variant, and extended haplotype homozygosity and network analyses confirmed a common founder origin. Coalescent-based age estimation placed the founder event approximately 4,000--10,000 years ago. Comparison with 1000 Genomes Project data showed the founder haplotype is absent or exceedingly rare outside African and South Asian populations. These findings strongly suggest the c.4065_4068del variant as a pre-historical BRCA1 founder variant in Rwanda, with implications for targeted genetic testing, cascade screening, and cancer prevention in the region.

We assessed the prevalence and determinants of malnutrition among children with Down syndrome (DS) in Rwanda. A cross-sectional survey was conducted among 313 children with DS aged 6 months to 18 years using a structured questionnaire. Data were analyzed through univariate, bivariate, and multivariate regression analyses. Overall, 30% of children were overweight/obese, 72% stunted, 15% thin, and 47% underweight; 7% had the double burden of malnutrition. Underweight was less likely when fathers were casual laborers (AOR=0.38; CI: 0.18–0.82) but more likely in polygamous households (AOR=3.30; CI:1.26–8.62). Maternal illiteracy increased risks of both underweight (AOR=2.34; CI:1.01–5.40) and stunting (AOR=2.24; CI:1.02–4.92). Age was a strong predictor of malnutrition: children 24– 59 months (AOR=2.45; CI:1.12–5.35), 6–12 years (AOR=2.93; CI:1.41–6.10), and 13–18 years (AOR=5.52; CI:2.21–13.74) were more likely to be stunted or overweight. Conversely, younger children had lower odds of thinness compared to overweight: 6–23 months (AOR=0.24; CI:0.10–0.62), 24–59 months (AOR=0.40; CI:0.18–0.90), and 6–12 years (AOR=0.27; CI:0.14–0.50). Malnutrition, especially stunting, is highly prevalent among Rwandan children with DS. Socioeconomic conditions, parental education, and household characteristics strongly influence outcomes. Interventions should integrate nutrition, parental education, and inclusive healthcare strategies.

BACKGROUND:Cervical cancer is the leading cause of cancer death among women in sub-Saharan Africa, yet structured survivorship care remains concentrated in tertiary centers and is often inaccessible to survivors living far from oncology services. Decentralizing follow-up to district hospitals may reduce patient burden and improve continuity of care, but prospective implementation evidence from low- and middle-income country settings remains limited. We evaluated the feasibility, acceptability, fidelity, safety, and patient burden of gynecologist-led district-hospital cervical cancer survivorship follow-up in Rwanda. METHODS:This prospective, mixed-methods, multi-site pilot study enrolled 12 cervical cancer survivors at 4 purposively selected district hospitals. Participants underwent quarterly gynecologist-led follow-up over 12 months. Prespecified implementation outcomes, guided by Proctor's taxonomy, included on-time visit completion within 14 days of the planned date as the primary feasibility metric, with a threshold of ≥80%; clinician and patient acceptability and appropriateness using acceptability of intervention measure (AIM)/ intervention appropriateness measure (IAM); clinician feasibility using feasibility of intervention measure (FIM); and visit-level protocol fidelity assessed by structured chart review. Safety was assessed through clinical record and referral documentation review. Patient travel time and transport costs were compared with self-reported pre-enrollment tertiary-center data. consolidated framework for implementation research-informed interviews explored contextual determinants. RESULTS:Twelve women were enrolled, with median age 69 years (interquartile range [IQR] 54-72) and FIGO stage II-IVA disease. Of 60 scheduled visits, 51 were completed within the prespecified 14-day window (85.0%; 95% confidence interval [CI] 73.4-92.9), meeting the feasibility threshold. Site-level on-time completion ranged from 66.7% to 93.8%. Acceptability, appropriateness, and feasibility were high among clinicians and patients: clinician AIM 4.5, IAM 4.3, FIM 4.3; patient AIM 4.4 and IAM 4.2, with all respondents scoring ≥4. Visit-level protocol fidelity was low, with median fidelity of 64.2% (IQR 58.9-67.4), and only 4.3% of visits met the ≥85% threshold. No serious adverse events attributable to district-level follow-up were identified under passive surveillance. Median travel time decreased by 75%, and transport costs by 71%. CONCLUSION:District-hospital cervical cancer survivorship follow-up was acceptable, feasible, and reduced patient burden, but fidelity strengthening and prospective safety monitoring are needed before scale-up.

In Africa, the disease burden of diarrheal and respiratory diseases is amplified by limited surveillance capacity, diagnostic limitations, and socioeconomic inequalities. In rapidly urbanizing settings such as Kigali (Rwanda), integrating wastewater-based epidemiology (WBE) into existing surveillance systems offers a promising strategy for generating real-time epidemiological intelligence, identifying community-level hotspots, and addressing gaps in traditional reporting systems. Gastrointestinal and respiratory infections remain major causes of morbidity and mortality globally, particularly in low- and middle-income countries (LMICs), where traditional clinical surveillance systems frequently underreport the true disease burden. This systematic review synthesizes current evidence on the detection of gastrointestinal and respiratory pathogens in wastewater and evaluates the utility of WBE for early warning and public health action. A narrative review approach was used to identify peer-reviewed literature, global health reports, and surveillance studies focusing on the wastewater detection of gastrointestinal and respiratory pathogens. Databases including PubMed, Scopus, and Google Scholar were searched for studies published between 2000 and 2026. The search yielded 1247 records, of which 312 duplicates were removed. After title/abstract screening, 228 full-text articles were retrieved and assessed for eligibility. After a detailed evaluation, 108 studies were excluded for the following reasons: absence of pathogen-specific wastewater data (n = 46), a focus on environmental monitoring without public health relevance (n = 25), insufficient methodological description (n = 21), or other eligibility limitations such as a lack of primary data (n = 16). WBE provides a non-invasive, cost-effective approach for monitoring symptomatic and asymptomatic infections. Challenges involve variability in sampling, environmental factors affecting viral decay, and differences in laboratory workflows. WBE is a powerful complement to traditional infectious disease surveillance, offering early warning capabilities, population-level coverage, and real-time insights into pathogen circulation. Integrating WBE into surveillance programs, especially in LMICs such as Rwanda, can significantly strengthen epidemic preparedness, guide resource allocation, and improve outbreak response. Sustained investment in laboratory capacity, standardized protocols, and multisector collaboration is essential to fully leverage WBE for public health protection.

Background:Congenital heart defects affect over half of children with Down syndrome. Screening is recommended within the first six weeks of life to enable timely management and improve survival. Despite this, congenital heart defect screening remains low and often delayed. Objective:This study aimed to assess the uptake of congenital heart defect screening and its associated factors among children with Down syndrome in Rwanda. Methods:This quantitative cross-sectional study was conducted from February to May 2025. A total of 313 participants were recruited using convenience sampling. The study was conducted in four hospitals and the Rwanda Down Syndrome Organization. Data were collected using a newly developed structured questionnaire that was pilot tested prior to the main data collection. Ethical approval and informed consent were obtained. Descriptive statistics summarized congenital heart defect screening uptake, while multivariable logistic regression was used to identify factors associated with screening uptake. Results:Among 313 children with Down syndrome, 159 (51%) had undergone congenital heart defect screening. Among those screened, 45 (28%) were screened within the recommended first 6 weeks after birth. In the multivariable logistic regression analysis, place of residence was significantly associated with congenital heart defect screening uptake, with higher odds of screening among children in urban areas compared with those in rural areas (AOR = 2.17; 95% CI: 1.29-3.68; p = 0.004). Conclusion:Congenital heart defect screening among children with Down syndrome remains suboptimal, with delayed screening commonly observed. Urban residence is associated with higher screening uptake in the adjusted model. Targeted interventions are needed to improve timely screening, particularly addressing barriers in rural settings.

Malaria remains a global health threat, with Plasmodium falciparum causing most deaths, especially in sub-Saharan Africa. Although artemisinin-based therapies reduce the burden, drug-resistant parasites threaten control efforts. Mapping the distribution and evolution of molecular resistance markers is vital for evidence-based strategies. This systematic review mapped the global distribution, pooled prevalence, and temporal trends of key P. falciparum antimalarial resistance markers. Following the PRISMA methodology (PROSPERO: CRD4202511098991), databases (PubMed, Web of Science, Scopus, and Google Scholar) and gray sources were searched (July 2005–July 2025). Data were extracted in Rayyan, assessed via the JBI prevalence tool, and analyzed using Python v3.13 for WHO regional distribution, temporal trends, and treatment outcome trends. Of the 1972 records, 261 studies from 64 countries qualified for inclusion in this review. The pooled prevalence was highest for pfdhfr (85.7%), followed by pfcrt (78.0%), pfdhps (73.7%), pfmdr1 (60.5%), and pfk13 (45.0%). High heterogeneity (I2 > 95%) and rising pfk13 since 2012 highlight emerging artemisinin resistance, while persistent pfdhfr/pfdhps mutations show that ongoing sulfadoxine–pyrimethamine (SP) pressure on P. falciparum drug resistance, decreased parasite clearance, and treatment failure remain widespread and evolving in Africa. Integrating molecular surveillance into national malaria programs is essential to guide treatment modalities and support progress toward malaria elimination.

Genomic data are increasingly leveraged to enable malaria genomic surveillance, with many teams now generating Plasmodium falciparum sequence data for routine analysis. However, downstream analysis remains dependent on ad-hoc scripts and local infrastructure. This reliance limits reproducibility, and scalability, while obstructing the deployment of standardized pipelines across diverse high-performance computing (HPC) and cloud environments. This review describes the main workflow management systems and bioinformatics tools that are currently used for malaria genomic surveillance, with potential applicability to P. falciparum. We focus on the four most prominent workflow management systems (Nextflow, Snakemake, WDL/Cromwell, and Galaxy) and the core components of established pipelines in the field. Therefore, we summarize which tools are most widely used and how they are assembled into end-to-end workflows for surveillance. We organize these tools and pipelines around eight standardized PlasmoGenEPi use cases and propose a four-layer framework for pipeline design (data, pipeline structure, software environment, execution platform). Building on this, we introduce a pragmatic decision matrix that links sample volumes, infrastructure profiles and surveillance objectives to concrete choices of sequencing strategy and workflow system. We then discuss practical challenges that directly affect implementation in endemic settings, including heterogeneous computing infrastructure, long-term pipelines maintenance, staff turnover, and the systemic vulnerability of shared infrastructure, notably exposed by the recent VEuPathDB funding crisis. Finally, we highlight emerging directions, including community efforts such as PlasmoGenEPi, the increasing use of targeted Oxford Nanopore amplicon sequencing, and the move towards more standardized, portable and well-documented workflows that can be adapted to other pathogen surveillance systems.

Background: Kleefstra syndrome (KS) is a rare neurodevelopmental disorder caused by haploinsufficiency of EHMT1; it is characterized by global developmental delay, intellectual disability, hypotonia, distinctive facial features, and variable congenital anomalies. Autistic features, behavioral abnormalities and severe speech impairment are frequently reported. However, molecularly confirmed cases of KS from Africa remain extremely limited, largely due to restricted access to genomic diagnostic infrastructures. Methods: We describe a 15-month-old patient from Rwanda presenting with neonatal hypotonia, global developmental delay, short stature, and characteristic dysmorphic facial features. Comprehensive clinical evaluation was performed, followed by trio-based exome sequencing to identify the underlying genetic cause of this neurodevelopmental disorder. Results: Exome sequencing identified a de novo heterozygous frameshift variant in EHMT1 (NM_024757.5: c.2871dup; p. Phe958Leufs*219), confirming the diagnosis of KS. Conclusions: This report presents the first molecularly confirmed case of KS in Rwanda. It highlights additional clinical features like bilateral 5th toe clinodactyly, short stature and absence of obesity in KS. There is a need to further delineate the study of EHMT1 and investigate the natural history of KS across different populations for optimal patient management and to reduce diagnostic odyssey. The diagnostic utility of exome sequencing for neurodevelopmental disorders needs to be strengthened, with strong emphasis on expanding genomic medicine to help diagnose rare diseases in resource-limited settings.

Background Wastewater-based epidemiology (WBE) has emerged as a critical tool for public health surveillance, yet its application across diverse pathogens and geographical settings remains inconsistent. This systematic review synthesizes global evidence on wastewater surveillance to identify associated risk factors. Methods Following PRISMA 2020 guidelines (PROSPERO: CRD420261297382), a systematic search was conducted across PubMed, Scopus, Google Scholar, and Web of Science for studies published between 2000 and 2025. Results Thirty-nine peer-reviewed studies were included. The evidence base is geographically skewed toward the European Region (48.7%) and the Americas (23.1%), with significant underrepresentation in LMICs. Viruses were the primary biological target (89.7%), followed by bacteria (7.7%) and parasites (2.6%). A proportion meta-analysis of 31 eligible studies demonstrated a pooled wastewater pathogen detection prevalence of 62% (95% CI: 47.5-74.6%), with the European Region yielding the highest regional estimate (73%) and the African Region the lowest (8.3%). Conventional PCR and sequencing methods showed higher pooled detection rates (92.4% and 90.1%, respectively) than RT-qPCR (47.9%). Conclusion WBE provides a robust early-warning system indicating a need for broader pathogen diversity, incorporating bacterial and parasitic surveillance and expansion into rural and resource-limited regions.

Background Globally, children and adolescents with disabilities face significant health challenges, creating substantial needs for social support. In Rwanda, despite policy progress and inclusive education initiatives, children with disabilities constitute a marginalized population, particularly in rural settings where social support is limited. Therefore, this study generated evidence on their perceived social support and associated factors to inform the design of targeted interventions and policies. Methods This cross-sectional study was conducted in Karongi District, Western Province, Rwanda. A total of 400 children and adolescents aged 17 years and younger living with disabilities were recruited. Perceived social support was measured via the Multidimensional Scale of Perceived Social Support (MSPSS). The quantitative data were analysed via descriptive statistics and ordinal logistic regression models to identify factors associated with the level of perceived social support. Results Among the 400 children and adolescents with disabilities included in the study, 51.6% reported medium perceived social support, 29.5% reported high support, and 18.9% reported low support. Primary education was associated with greater perceived social support (aOR = 1.86; 95% CI: 1.12–3.08). Children living in violence-free households were more likely to have better perceived support (aOR = 4.11; 95% CI: 1.93–8.73). Conversely, children of widowed parents (aOR = 0.43; 95% CI: 0.18–0.99) and single caregivers (aOR = 0.18; 95% CI: 0.07–0.47) had significantly lower odds of greater perceived social support. Conclusion While most of the participants reported moderate levels of social support, a notable proportion experienced low social support, underscoring persistent unmet psychosocial needs. Primary education and living in violence-free households were associated with greater perceived social support, whereas children cared for by widowed parents or single caregivers were less likely to report greater support.