Array-CGH is considered as the first-tier investigation used to identify copy number variations. Right now, there is no available data about the genetic etiology of patients with development delay/intellectual disability and congenital malformation in East Africa.

Introduction: Improved teamwork and communication have been associated with improved quality of care. Early Warning Scores (EWS) and rapid response algorithms are a way of identifying deteriorating patients and providing a common framework for communication and response between physicians and nurses. The impact of EWS implementation on interprofessional collaboration (IPC) has been minimally studied, especially in resource-limited settings. Methods: The study took place in the Pediatric Department of the main academic referral hospital in Rwanda between April 2019 and January 2020. Pediatric nurses and residents were trained on the use of the Pediatric Warning Score for Resource-Limited Settings (PEWS-RL) and a rapid response algorithm. Training included vital sign collection, PEWS-RL calculation, IPC and rapid response algorithm implementation. Prior to training, participants completed surveys on IPC with Likert scale responses (from “strongly disagree” to “strongly agree”). Follow-up surveys were then administered nine months later and also included an open-response question on the impact of the PEWS-RL implementation on IPC. Results: Sixty-five (96%) nurses were trained and completed the pre-survey and thirty-seven (54%) of the trained nurses completed the post-survey. Twenty-two (59%) pediatric residents were trained in the workshop and completed the pre-survey and twenty-four physicians (4 pediatricians (40%) and 20 pediatric residents (53%)) completed the post-implementation survey. There was a statistically significant increase in the percent of nurses indicating strong agreement across all domains of communication and collaboration from the pre- to the post-survey. Although the percent of physicians indicating strong agreement increased in the post-survey for all items, only the “share information” item was statistically significant. Conclusion: Training and implementation of a PEWS-RL and a rapid response algorithm at a tertiary hospital in Rwanda resulted in significant improvement of nurse and physician ratings of IPC nine months later.

Introduction Improving outcomes from sepsis in children is a WHO Global Health Priority, yet mortality from sepsis remains high, particularly in low- and middle-income countries (LMICs). This database from children with community-acquired childhood sepsis in LMICs and some high-income countries will allow analysis of the burden of disease, including incidence, severity and outcomes. Understanding these aspects of sepsis care is fundamental for the design and conduct of future international interventional trials to improve childhood sepsis outcomes. Methods and analysis This multicountry retrospective observational study will include children up to 18 years of age presenting to emergency departments with suspected sepsis, defined as admission to hospital for treatment with intravenous antibiotics plus (1) a provisional diagnosis of sepsis and/or (2) treatment for suspected sepsis (operationalised as the administration of one or more fluid bolus to treat impaired perfusion or vasoactive infusion). Presenting characteristics, management and outcomes will be collected. These will include vital signs, serum biomarkers, intravenous fluid administration for the first 24 hours of hospitalisation, organ support therapies delivered, antimicrobial use, microbiological diagnoses, hospital and intensive care unit length of stay, and mortality censored at hospital discharge or 30 days from enrolment (whichever occurs first). Ethics and dissemination Central ethics approval was received from the Royal Children’s Hospital of Melbourne, Australia Human Research Ethics Committee (HREC/100648/RCHM-2023). Each international site will be required to obtain local Institutional Research Ethics Board approval. The findings will be disseminated in peer-reviewed journals, at academic conferences and through lay media. A cleaned study database and individual site-level data will be made available to site investigators upon completion of the study. Trial registration number This study was registered with the Australian and New Zealand Clinical Trials Registry on 23 January 2024 prior to commencement of recruitment (ACTRN12624000052538).

Introduction: Autism spectrum disorder (ASD) is a neurodevelopmental condition with substantial genetic and phenotypic heterogeneity. However, populations of African ancestry remain underrepresented in genomic studies, limiting understanding of ASD genetic architecture. This study aimed to characterize rare, clinically relevant genetic variants in a Rwandan pediatric ASD cohort using trio‐based whole‐exome sequencing (WES). Methods: Trio‐based WES was performed in 31 Rwandan pediatric patients with ASD (aged 2–18 years) and their parents. Variants were analyzed using a trio‐based workflow and classified according to American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines. Results: Eleven candidate variants were identified in 9 of 31 patients, including four likely pathogenic variants and seven variants of uncertain significance. This resulted in a diagnostic yield of 12.9% (4/31), expanded to 29.0% when phenotypically concordant variants of uncertain significance were considered. Most likely pathogenic variants were identified in individuals with syndromic ASD who presented with intellectual disability, epilepsy, and global developmental delay. Likely pathogenic findings included two single nucleotide variants in GABRB3 , SYNGAP1 , and two copy‐number variants involving the GNAS locus and chromosome 1p35.3‐p35.2. Conclusions: The diagnostic yield observed in this cohort is consistent with previous trio‐based WES studies of ASD. The findings support the clinical utility of WES for the genetic evaluation of ASD and underscore the need for expanded genomic studies in African populations.

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.