Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability.

Introduction: Rare copy number variants (CNVs) and polygenic risk for intelligence (PRS-IQ) both confer susceptibility for autism spectrum disorder (ASD) but have opposing effects on cognitive ability. The field has struggled to disentangle the effects of these two classes of genomic variants on cognitive ability from their effects on ASD susceptibility, in part because previous studies did not include controls with cognitive measures. We aim to investigate the impact of these genomic variants on ASD risk while adjusting for their known effects on cognitive ability. Methods: In a cohort of 8,426 subjects with ASD and 169,804 controls with cognitive assessments, we found that rare coding CNVs and PRS-IQ increased ASD risk, even after adjusting for their effects on cognitive ability. Results: Bottom decile PRS-IQ and CNVs both decreased cognitive ability but had opposing effects on ASD risk. Models combining both classes of variants showed that the effects of rare CNVs and PRS-IQ on ASD risk and cognitive ability were largely additive, further suggesting that susceptibility for ASD is conferred independently from its effects on cognitive ability. Despite imparting mostly additive effects on ASD risk, rare CNVs and PRS-IQ showed opposing effects on core and associated features and developmental history among subjects with ASD. Discussion: Our findings suggest that cognitive ability itself may not be the factor driving the underlying liability for ASD conferred by these two classes of genomic variants. In other words, ASD risk and cognitive ability may be two distinct manifestations of CNVs and PRS-IQ. This study also highlights the challenge of understanding how genetic risk for ASD maps onto its dimensional traits.

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.

Vulture poisoning in Sub-Saharan Africa and its implications for conservation planning: A systematic review.

The Old World Vultures (OWV), constituting 16 species primarily in Africa, Europe and Asia, are currently being driven to extinction mostly by anthropogenic activities, especially poisoning. The vulture losses from poisoning caused by human-related activities are en masse at a single mortality event-level and occur in complex social-ecological systems. There has been a growing body of knowledge on wildlife poisoning over the years. However, no review has been done to consolidate vulture poisoning studies in sub-Saharan Africa (SSA), with a social lens of conservation planning. Here we present a review of the vulture poisoning research by re-contextualizing the problem of vulture poisoning across SSA. We employed stepwise Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) method to search for literature on vulture poisoning. The search yielded 211 studies which were trimmed to 55 after applying sets of eligibility criteria. Literature shows that efforts aimed at successful vulture conservation planning will require an understanding of the relational aspects of stakeholder social capital (assets) that are critical to the implementation of species recovery strategies. Strengthening relational social capital through multi-scale stakeholder evidence-based awareness creation and participation is necessary for addressing the African Vulture Crisis (AVC). Applying stakeholder social capital approaches to different vulture conservation scenarios at local, regional and international scales can enhance successful implementation of conservation strategies for the persistence of vultures in complex socio-ecological systems in African landscapes. Existing literature also showed the importance of stakeholder social capital as a countermeasure against vulture losses.

Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability.

Rare copy number variants (CNVs) and polygenic risk for intelligence (PRS-IQ) both confer risk for autism spectrum disorder (ASD) but have opposing effects on cognitive ability. The field has struggled to disentangle the effects of these two classes of genomic variants on cognitive ability from their effects on ASD risk, in part because previous studies did not include controls with cognitive measures. We aim to investigate the impact of these genomic variants on ASD risk while adjusting for their known effects on cognitive ability. In a cohort of 8,426 subjects with ASD and 169,804 controls with cognitive assessments, we found that rare coding CNVs and PRS-IQ increased ASD risk, even after adjusting for their effects on cognitive ability. Bottom decile PRS-IQ and CNVs both decreased cognitive ability but had opposing effects on ASD risk. Models combining both classes of variants showed that the effects of rare CNVs and PRS-IQ on ASD risk and cognitive ability were largely additive, further suggesting that risk for ASD is conferred independently from its effects on cognitive ability. Despite imparting mostly additive effects on ASD risk, rare CNVs and PRS-IQ showed opposing effects on core and associated features and developmental history among subjects with ASD. Our findings suggest that cognitive ability itself may not be the factor driving the underlying risk for ASD conferred by these two classes of genomic variants. In other words, ASD risk and cognitive ability may be two distinct manifestations of CNVs and PRS-IQ. This study also highlights the challenge of understanding how genetic risk for ASD maps onto its dimensional traits.

Advanced practice physiotherapists can diagnose and triage patients with musculoskeletal disorders while providing effective care: a systematic review.

QUESTIONS: What is the diagnostic and surgical triage concordance between advanced practice physiotherapists (APPTs) and physicians? What is the clinical efficacy of advanced practice physiotherapy care compared with usual medical care? DESIGN: Systematic review with meta-analyses. LITERATURE SEARCH: Medline, Embase, Cochrane CENTRAL and CINAHL were searched up to March 2022. STUDY SELECTION CRITERIA: Concordance studies on diagnostic or surgical triage between APPTs and physicians and randomised controlled trials comparing the clinical efficacy of an advanced practice physiotherapy (APP) model of care compared with usual medical care for participants with musculoskeletal disorders. DATA SYNTHESIS: Meta-analyses were performed for concordance and clinical outcomes. Grading of Recommendations, Assessment, Development and Evaluations (GRADE) was used to evaluate the certainty of evidence. RESULTS: Nineteen concordance studies (n = 1,745) and six randomised trials (n = 1,960) were included. Based on moderate-certainty evidence, the pooled Kappa for diagnostic concordance between APPTs and physicians was 0.76 (95% CI 0.68 to 0.85, n = 1,108). Based on high-certainty evidence, the pooled Kappa for surgical triage concordance was 0.71 (95% CI 0.63 to 0.78, n = 1,128). Based on moderate-certainty evidence, APP care resulted in a comparable or greater reduction in pain (MD -0.92 out of 10, 95% CI -1.75 to -0.10, n = 494) when compared with usual medical care at medium-term follow-up. Based on low-certainty evidence, APP care resulted in a comparable or greater reduction in disability (SMD -0.31, 95% CI -0.67 to 0.04, n = 535) when compared with usual medical care at medium-term follow-up. CONCLUSION: Concordance between APPTs and physicians is probably good to very good for diagnosis and good to very good for surgical triage of musculoskeletal disorders. Patients with musculoskeletal disorders managed in an APP model of care probably report comparable or greater pain and disability reductions when compared with usual medical care. REGISTRATION: CRD42022320950.

Relationship between level of readiness for self-directed learning and learning styles of CEU nursing students

This study aimed to assess the level of readiness of student nurses for self-directed learning and their learning styles. It also determined the relationship between the two factors and the relationship of each factor to the respondents' demographic profile. This descriptive- correlational study utilized the Autonomous Learner Index of Abu- Moghli, Khalaf, Halabi & Wardam (2005) to assess the students' level of readiness in self-directed learning, and the Learning Style Inventory of Kolb & Kolb (2005) to assess their learning style type. No sampling technique was used because total population was included covering all 103 regular nursing students of Centro Escolar University for First semester of academic year 2016-2017. The study underwent Ethics Review Board Approval before it was implemented. Results of the study revealed that most of the nursing students were independent learners (52%). There were no dependent learners but since there were several respondents who were uncertain (48%), it is the role of nurse educators to develop their independence in learning. Moreover, all the four types of learning styles namely: Accommodative, Convergent, Assimilative and Divergent; were present showing the variation in learning styles of nursing students. But it was found out that they mostly prefer the Convergent learning style, especially the junior and senior students. The study concluded that there was no relationship between the variables: demographic profile, self-directed learning readiness and learning style. However, the scores of convergent learning style were higher than that of divergent and accommodative in their self-directed learning readiness.

Relationship between level of readiness for self-directed learning and learning styles of CEU nursing students

This study aimed to assess the level of readiness of student nurses for self-directed learning and their learning styles. It also determined the relationship between the two factors and the relationship of each factor to the respondents' demographic profile. This descriptive- correlational study utilized the Autonomous Learner Index of Abu- Moghli, Khalaf, Halabi & Wardam (2005) to assess the students' level of readiness in self-directed learning, and the Learning Style Inventory of Kolb & Kolb (2005) to assess their learning style type. No sampling technique was used because total population was included covering all 103 regular nursing students of Centro Escolar University for First semester of academic year 2016-2017. The study underwent Ethics Review Board Approval before it was implemented. Results of the study revealed that most of the nursing students were independent learners (52%). There were no dependent learners but since there were several respondents who were uncertain (48%), it is the role of nurse educators to develop their independence in learning. Moreover, all the four types of learning styles namely: Accommodative, Convergent, Assimilative and Divergent; were present showing the variation in learning styles of nursing students. But it was found out that they mostly prefer the Convergent learning style, especially the junior and senior students. The study concluded that there was no relationship between the variables: demographic profile, self-directed learning readiness and learning style. However, the scores of convergent learning style were higher than that of divergent and accommodative in their self-directed learning readiness.