Fragile X syndrome (FXS) is caused by a repression of the FMR1 gene that codes the Fragile X mental retardation protein (FMRP), an RNA binding protein involved in processes that are crucial for proper brain development. To better understand the consequences of the absence of FMRP, we analyzed gene expression profiles and activities of cortical neural progenitor cells (NPCs) and neurons obtained from FXS patients’ induced pluripotent stem cells (IPSCs) and IPSC-derived cells from FMR1 knock-out engineered using CRISPR-CAS9 technology. Multielectrode array recordings revealed in FMR1 KO and FXS patient cells, decreased mean firing rates; activities blocked by tetrodotoxin application. Increased expression of presynaptic mRNA and transcription factors involved in the forebrain specification and decreased levels of mRNA coding AMPA and NMDA subunits were observed using RNA sequencing on FMR1 KO neurons and validated using quantitative PCR in both models. Intriguingly, 40% of the differentially expressed genes were commonly deregulated between NPCs and differentiating neurons with significant enrichments in FMRP targets and autism-related genes found amongst downregulated genes. Our findings suggest that the absence of FMRP affects transcriptional profiles since the NPC stage, and leads to impaired activity and neuronal differentiation over time, which illustrates the critical role of FMRP protein in neuronal development.

To identify the current and suggested practices of information transfer from hospitals to primary care physicians (PCPs) for older adults. Scoping review of the academic literature. Older adults (≥65 years) discharged from the inpatient unit or the emergency department to their PCPs and health care professionals caring for these older adults in the hospital and outpatient settings. Four databases were searched to identify studies published after 2000 that discussed information transfer between hospitals and PCPs for older adults. We adopted evaluation research and implementation science approaches, extracting the means of information transfer, whether information was sent or received, and barriers and facilitators. We identified 51 articles that discussed information transfer practice; only 15 primarily focused on information transfer, without any consensus on best practices. Fax was the most common method for transferring information, electronic health record usage increased over time, and pharmacists most often sent information. Most studies did not report whether information was sent or received. This review highlighted a paucity of research and a lack of consensus in the area, a mismatch between existing information transfer practices and technological capacities, suboptimal utilization of health care resources and staffing, and a limited use of evaluation research and implementation sciences to explore this topic. Given the importance of information transfer, particularly for older adults who undergo complex hospital admissions and frequent transitions, further research on this topic is warranted. Further research should focus on implementing new practices and assessing their efficacy.

Introduction: Transition of care from hospital to primary care has been recognised globally as a high-risk scenario for older patients’ safety by the WHO. Indeed, sub-optimal care transitions are associated with increased mortality, morbidity and adverse events. Improving communication through timely and accurate clinical information transfer has been identified as a key component of optimal care transitions. However, timely and accurate clinical information transfer from hospital to primary care varies across countries and institutions. Information transfer practices are heterogeneous, in some places depending on individual initiative and sometimes not occurring at all. To improve current practices, we will conduct a scoping review to identify the current and suggested practices of information transfer between hospital-based physicians or pharmacists and the primary care team of older patients. Methods and analysis: This scoping review will be conducted using Arksey and O’Malley’s methodological framework, augmented by Levac et al and the JBI Manual for Evidence Synthesis, and the findings reported according to the PRISMA extension for Scoping Reviews. We will use a search strategy developed with a specialised librarian to search four databases (MEDLINE, Embase, CINAHL and AgeLine) and reference lists of selected studies. All studies adhering to our iteratively created eligibility criteria outlined by the population, concept and context elements will be included. The data extraction table will also be constructed iteratively with the research team, and results will be presented tabularly and qualitatively. Ethics and dissemination: Ethics approval was obtained. We plan to disseminate the results as scientific communication (peer-reviewed journal and presentations) and during a deliberative dialogue workshop with key stakeholders in order to generate recommendations to improve current practices in our own clinical setting, potentially to be adapted and scaled up with our collaborators provincially, nationally and internationally. This protocol has been registered on the Open Science Framework: https://osf.io/eg958 .