Genetic and phenotypic similarity across major psychiatric disorders: a systematic review and quantitative assessment.

There is widespread overlap across major psychiatric disorders, and this is the case at different levels of observations, from genetic variants to brain structures and function and to symptoms. However, it remains unknown to what extent these commonalities at different levels of observation map onto each other. Here, we systematically review and compare the degree of similarity between psychiatric disorders at all available levels of observation. We searched PubMed and EMBASE between January 1, 2009 and September 8, 2022. We included original studies comparing at least four of the following five diagnostic groups: Schizophrenia, Bipolar Disorder, Major Depressive Disorder, Autism Spectrum Disorder, and Attention Deficit Hyperactivity Disorder, with measures of similarities between all disorder pairs. Data extraction and synthesis were performed by two independent researchers, following the PRISMA guidelines. As main outcome measure, we assessed the Pearson correlation measuring the degree of similarity across disorders pairs between studies and biological levels of observation. We identified 2975 studies, of which 28 were eligible for analysis, featuring similarity measures based on single-nucleotide polymorphisms, gene-based analyses, gene expression, structural and functional connectivity neuroimaging measures. The majority of correlations (88.6%) across disorders between studies, within and between levels of observation, were positive. To identify a consensus ranking of similarities between disorders, we performed a principal component analysis. Its first dimension explained 51.4% (95% CI: 43.2, 65.4) of the variance in disorder similarities across studies and levels of observation. Based on levels of genetic correlation, we estimated the probability of another psychiatric diagnosis in first-degree relatives and showed that they were systematically lower than those observed in population studies. Our findings highlight that genetic and brain factors may underlie a large proportion, but not all of the diagnostic overlaps observed in the clinic.

Through the looking glass: qualitative study of critical care clinicians engaging in humanities.

PURPOSE: Critical care medicine is facing an epidemic of burnout and consequent attrition. Interventions are needed to re-establish the medical field as a place of professional growth, resilience, and personal well-being. Humanities facilitate creation, reflection, and meaning-making, holding the promise of personal and community transformation. This study aimed to explore how clinicians engage with a humanities program, and what role and impact do the humanities play in their individual and collective journey. METHODS: This is a qualitative study employing a phenomenological approach. Participants were faculty and trainees who participated in the program. Data consisted of (a) 60-h observations of humanities evenings, (b) more than 200 humanities artifacts brought by participants, and (c) 15 in-depth participant interviews. Data were analyzed inductively and reflectively by a team of researchers. RESULTS: Participants were motivated to engage with the humanities curriculum because of past experiences with art, identifying a desire to re-explore their creativity to make meaning from their clinical experiences and a wish to socialize with and understand their colleagues through a different lens. The evenings facilitated self-expression, and inspired and empowered participants to create art pieces and re-engage with art in their daily lives. More importantly, they found a community where they could be vulnerable and supported, where shared experiences were discussed, emotions were validated, and relationships were deepened between colleagues. CONCLUSIONS: Humanities may impact resilience and personal and community well-being by facilitating reflection and meaning-making of challenging clinical work and building bonds between colleagues.

Case report: Success of allogeneic hematopoietic stem cell transplantation for refractory systemic-onset juvenile idiopathic arthritis.

Objectives: This study reports cases of systemic-onset juvenile idiopathic arthritis (sJIA) who underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT) at our center and reviews published outcomes of allo-HSCT in sJIA. Methods: We present a case report of two patients with sJIA who underwent allo-HSCT at a tertiary pediatric hospital. Each patient's disease course and allo-HSCT protocol/outcome are described. Outcomes of published cases of allo-HSCT in sJIA were compared to our experience. Results: Two patients with sJIA had allo-HSCT. Both failed multiple lines of disease-modifying anti-rheumatic drugs and experienced severe disease/treatment-related complications. Despite post-HSCT complications, both recovered without sequelae. Five years post-HSCT, patient 1 is in complete remission (CR) and is off medications. Patient 2 was in CR until 11 months post-HSCT after which he developed three disease flares. At 4 years post-HSCT he is currently in CR on Adalimumab monotherapy. Engraftment was excellent with a donor chimerism of 100% for patient 1 and 93% for patient 2. In the literature, the outcome of allo-HSCT is reported in 13 sJIA patients. When merging those with our 2 patients, 1/15 patients died and 13/14 achieved CR, of which 12 are off medications (median [range] follow-up: 2.2 [0.2-7.0] years). Extended follow-up data on 11 of the 13 reported sJIA patients showed that an additional 3 patients flared at 3, 4, and 10 years post-HSCT. Conclusion: We report two patients with severe/refractory sJIA who underwent successful allo-HSCT and achieved CR. Allo-HSCT is a potential curative option for severe/refractory sJIA. It should be considered only after failure of conventional sJIA treatments and when an HLA-matched donor is available in order to lower transplant-related mortality. The outcomes of reported sJIA patients who received allo-HSCT are encouraging but long-term follow-up data are needed to better characterized the risk-benefit ratio of this procedure.

Factors influencing acceptance and trust of chatbots in juvenile offenders' risk assessment training.

Introduction: Research has identified simulation-based training with chatbots and virtual avatars as an effective educational strategy in some domains, such as medicine and mental health disciplines. Several studies on interactive systems have also suggested that user experience is decisive for adoption. As interest increases, it becomes important to examine the factors influencing user acceptance and trust in simulation-based training systems, and to validate applicability to specific learning tasks. The aim of this research is twofold: (1) to examine the perceived acceptance and trust in a risk assessment training chatbot developed to help students assess risk and needs of juvenile offenders, and (2) to examine the factors influencing students' perceptions of acceptance and trust. Methods: Participants were 112 criminology students in an undergraduate course in a Canadian university. Participants were directed to use a custom-designed chatbot with a virtual 3D avatar for juvenile offenders' risk assessment training, to complete online questionnaires and a risk assessment exercise. Results: Results show satisfactory levels of acceptance and trust in the chatbot. Concerning acceptance, more than half appeared to be satisfied or very satisfied with the chatbot, while most participants appeared to be neutral or satisfied with the benevolence and credibility of the chatbot. Discussion: Results suggest that acceptance and trust do not only depend on the design of the chatbot software, but also on the characteristics of the user, and most prominently on self-efficacy, state anxiety, learning styles and neuroticism personality traits. As trust and acceptance play a vital role in determining technology success, these results are encouraging.

Being and Becoming: Narrative Records of Pediatric Critical Care Clinicians.

Medical humanities initiatives have been integrated in our Pediatric Critical Care program to help clinicians make meaning of key experiences in their professional and personal journeys. In particular, narrative medicine and clinicians' writings illuminate and commemorate these journeys and increase our understanding of our profession in its full complexity. In this piece, we provide an example of a medical humanities curriculum and a selection of pieces written by several participants in it. These pieces form a collective narrative, portraying aspects of our individual and collective biography.

Isolated rhinorrhea in the presentation of SARS-CoV-2 infection among preschool- versus school-aged children.

Objectives: Rapid identification and isolation of SARS-CoV-2 cases are priorities in school and child care settings to prevent further outbreaks. The objective of this study was to compare the clinical presentation of SARS-CoV-2 infections among preschool (<5 years) versus school-aged (≥5 years) children diagnosed with SARS-CoV-2 infection, and, specifically, the probability of presenting with an isolated symptom, such rhinorrhea or sore throat. Methods: Retrospective study of children (≤18 years of age) diagnosed with SARS-CoV-2 in the outpatient COVID-19 clinic or the Emergency Department at the Centre Hospitalier Universitaire Sainte-Justine (Montreal, Quebec, Canada) February through May 2020. Results: Of 3,789 children tested, 105 (3%) were positive for SARS-CoV-2, and 104 included in the analysis (n=49 age <5 years and n=55 age ≥5 years). While fever was the most common presenting symptom across both age groups, in the absence of fever, the presence of a combination of two or more symptoms identified the majority (92%) of cases. Isolated single symptom presentations were uncommon (<5% of cases). Most importantly, not a single child in either age group presented with isolated rhinorrhea or sore throat. Conclusions: While there are differences in the clinical manifestations of COVID-19 in preschool- versus school-aged children, in both age groups, isolated rhinorrhea was not a manifestation of SARS-CoV-2 infection. These results could help further guide testing criteria and exclusion criteria in child care and school settings.

Video Game to Attenuate Pandemic-Related Stress From an Equity Lens: Development and Usability Study.

BACKGROUND: The emergence of the novel coronavirus (COVID-19) has introduced additional pressures on an already fragile mental health care system due to a significant rise in depression, anxiety, and stress among Canadians. Although cognitive behavioral therapy (CBT) is known to be an efficacious treatment to reduce such mental health issues, few people have access to CBT in an engaging and sustainable manner. To address this gap, a collaboration between the Centre for Addiction and Mental Health (CAMH) and the National Research Council of Canada (NRC) developed CBT-based self-led, online, clinician-tested modules in the form of a video game, named Legend of Evelys, and evaluated its usability in the attenuation of a COVID-19-related increase in stress. OBJECTIVE: We here present the conceptualization and design of new self-care modules in the form of a video game, its implementation in a technological infrastructure, and inclusivity and privacy considerations that informed the development. A usability study of the modules was performed to assess the video game's usability, user engagement, and user perceptions. METHODS: The development of the video game involved establishment of a technology infrastructure for secure implementation of the software for the modules and a clinician-led assessment of the clinical utility of these modules through two "whiteboard" sessions. The usability study was informed by a mixed methods sequential explanatory design to evaluate the intervention of the mobile app through two distinct phases: quantitative data collection using in-app analytics data and two surveys, followed by qualitative data collection by semistructured interviews. RESULTS: A total of 32 participants trialed the app for 2 weeks. They used the video game an average of six times and rated the game as "good" based on the Systems Usability Scale score. In terms of stress reduction, the study demonstrated a significant difference in the participants' Perceived Stress Scale score at baseline (mean 22.14, SD 6.187) compared with that at the 2-week follow-up (mean 18.04, SD 6.083; t27=3.628, P=.001). Qualitative interviews helped participants identify numerous functionality issues and provided specific recommendations, most of which were successfully integrated into the video game for future release. CONCLUSIONS: Through this collaboration, we have established that it is possible to incorporate CBT exercises into a video game and have these exercises adopted to address stress. While video games are a promising strategy to help people with their stress and anxiety, there is a further need to examine the real-world effectiveness of the Legend of Evelys in reducing anxiety.

Successful Pediatric Mechanical Thrombectomy for HeartMate 3-Related Intracranial Thromboembolism.

Thromboembolic events post left ventricular assist devices (LVAD) implantation remain a major cause of morbidity and mortality. Mechanical thrombectomy for the treatment of pediatric intracranial thromboembolic events have been reported in LVADs, but never following HeartMate 3 (HM3) implantation. We present the case of an 8-year-old, 26.5 kg male with dilated cardiomyopathy and decompensated heart failure who presented with extensive intracranial thromboembolism in the early postoperative period following HM3 implantation and underwent successful mechanical thrombectomy with a favorable neurological outcome.

An Immersive and Interactive Platform for Cognitive Assessment and Rehabilitation (bWell): Design and Iterative Development Process.

BACKGROUND: Immersive technologies like virtual reality can enable clinical care that meaningfully aligns with real-world deficits in cognitive functioning. However, options in immersive 3D environments are limited, partly because of the unique challenges presented by the development of a clinical care platform. These challenges include selecting clinically relevant features, enabling tasks that capture the full breadth of deficits, ensuring longevity in a rapidly changing technology landscape, and performing the extensive technical and clinical validation required for digital interventions. Complicating development, is the need to integrate recommendations from domain experts at all stages. OBJECTIVE: The Cognitive Health Technologies team at the National Research Council Canada aims to overcome these challenges with an iterative process for the development of bWell, a cognitive care platform providing multisensory cognitive tasks for adoption by treatment providers. METHODS: The team harnessed the affordances of immersive technologies while taking an interdisciplinary research and developmental approach, obtaining active input from domain experts with iterative deliveries of the platform. The process made use of technology readiness levels, agile software development, and human-centered design to advance four main activities: identification of basic requirements and key differentiators, prototype design and foundational research to implement components, testing and validation in lab settings, and recruitment of external clinical partners. RESULTS: bWell was implemented according to the findings from the design process. The main features of bWell include multimodal (fully, semi, or nonimmersive) and multiplatform (extended reality, mobile, and PC) implementation, configurable exercises that pair standardized assessment with adaptive and gamified variants for therapy, a therapist-facing user interface for task administration and dosing, and automated activity data logging. bWell has been designed to serve as a broadly applicable toolkit, targeting general aspects of cognition that are commonly impacted across many disorders, rather than focusing on 1 disorder or a specific cognitive domain. It comprises 8 exercises targeting different domains: states of attention (Egg), visual working memory (Theater), relaxation (Tent), inhibition and cognitive control (Mole), multitasking (Lab), self-regulation (Butterfly), sustained attention (Stroll), and visual search (Cloud). The prototype was tested and validated with healthy adults in a laboratory environment. In addition, a cognitive care network (5 sites across Canada and 1 in Japan) was established, enabling access to domain expertise and providing iterative input throughout the development process. CONCLUSIONS: Implementing an interdisciplinary and iterative approach considering technology maturity brought important considerations for the development of bWell. Altogether, this harnesses the affordances of immersive technology and design for a broad range of applications, and for use in both cognitive assessment and rehabilitation. The technology has attained a maturity level of prototype implementation with preliminary validation carried out in laboratory settings, with next steps to perform the validation required for its eventual adoption as a clinical tool.

Developing Triggers for Environmental Effects Monitoring Programs for Trout-Perch in the Lower Athabasca River (Canada).

Baseline variations in trout-perch energy use (growth, gonad size) and energy storage (condition, liver size) were characterized between 2009 and 2015 in 8 reaches of the Athabasca River (AB, Canada), including 2 reaches upstream of the city of Fort McMurray (AB, Canada) and 6 reaches downstream of Fort McMurray among existing oil sands operations. Generalized linear models, used to account for background variation, indicated that fork length, gonad size, and liver size decreased, whereas body weight increased, in relation to river discharge, for both male and female trout-perch. Air temperature was positively correlated with liver size and negatively correlated with gonad size and body weight for females, but only positively correlated with gonad weight for males. These linear models explained approximately 20 to 25% of the variation in adjusted body size, and upward of 80% of the variation in adjusted body weight, liver weight, and gonad weight. Residuals from linear models were used to estimate normal ranges of variation for each of the fish population performance measures. Combined, the models and normal ranges can be used to assess subsequent monitoring data, providing potential triggers for follow-up monitoring activities. Environ Toxicol Chem 2019;38:0-0. Environ Toxicol Chem 2019;38:1890-1901. © 2019 SETAC.

Clear as mud: a meta-analysis on the effects of sedimentation on freshwater fish and the effectiveness of sediment-control measures.

Increase in fine sediments in freshwater resulting from anthropogenic development is a potential stressor for fish and thus may cause population declines. Though a large body of literature exists on the topic, there have been few attempts to synthesize this information in a quantitative manner. Through meta-analysis we investigated the effects of sediment in lotic environments on resident ichthyofauna using ecologically-relevant endpoints for tolerant (e.g., northern pike Esox lucius) and intolerant (e.g., brook trout Salvelinus fontinalis) species. Further, the efficiency of sediment-control devices was explored to inform mitigation measures. An increase in suspended and deposited sediments was demonstrated to have a negative effect on all parameters and tolerances tested (feeding behavior [feeding rate, reaction distance to food item]; spawning success [survival of fry to eyed stage, fry emergence]; species richness; P < 0.001) except fish abundance (P = 0.058). Heterogeneity between studies was a factor in all analyses. Although there were insufficient studies to conduct meta-analysis on sediment-control devices, weighted percent efficiency estimates revealed that properly installed sediment-control fences tended to have a higher percent efficiency (73-80%) than sediment traps and basins (40-52%). These results highlight the negative impact that increases in suspended and deposited sediments can have on resident fishes from the individual to the population, and the need for more transparent and thorough statistical reporting. The analysis also identifies a clear need for rigorous experimental studies contrasting different sediment-control devices and strategies given that little such work has been published. That alone is remarkable given that sediment-control devices are often a requirement of regulators for riparian development activities, yet the evidence to support the effectiveness of the primary mitigative strategies is weak.