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Facioscapulohumeral dystrophy (FSHD) is linked to contraction of D4Z4 repeats on chromosome 4q with SMCHD1 mutations acting as a disease modifier. D4Z4 heterochromatin disruption and abnormal upregulation of the transcription factor DUX4, encoded in the D4Z4 repeat, are the hallmarks of FSHD. However, defining the precise effect of D4Z4 contraction has been difficult because D4Z4 repeats are primate-specific and DUX4 expression is very rare in highly heterogeneous patient myocytes. We generated isogenic mutant cell lines harboring D4Z4 and/or SMCHD1 mutations in a healthy human skeletal myoblast line. We found that the mutations affect D4Z4 heterochromatin differently, and that SMCHD1 mutation or disruption of DNA methylation stabilizes otherwise variegated DUX4 target activation in D4Z4 contraction mutant cells, demonstrating the critical role of modifiers. Our study revealed amplification of the DUX4 signal through downstream targets, H3.X/Y and LEUTX. Our results provide important insights into how rare DUX4 expression leads to FSHD pathogenesis.

Background: Dynamic, relational developmental systems-based models of development emphasize that developmentally-nurturant youth-adult relationships elicit in youth perceptions of being known and loved. Although such perceptions are foundations of positive youth development (PYD), such measures do not exist. Objective: We sought to create a theoretically-predicated measure of youth perceptions of being known and loved by capitalizing on data sets in two countries (Rwanda and El Salvador) wherein a multi-national study of PYD was being conducted by Compassion International (CI). Method: With Rwanda data (n = 1,204, M[subscript age] = 11.84, 50% CI-supported), exploratory and confirmatory factor analyses enabled refining the measure for robustness and parsimony. Measures of intentional self-regulation, hopeful future expectations, transcendence, and contribution were used for validation of the known and loved measure within the nomological net of constructs proposed in the Lerner and Lerner PYD model. Confirmatory factor analyses supported the use of the model within the El Salvador data set (n = 1,205, M[subscript age] = 13.03, 51% CI-supported). Results: Robust psychometric properties were established in both national settings. Measurement invariance was found across age, gender, urban--rural location, CI-enrollment status, and nations, and involved both mean differences and correlations among latent factors. Conclusions: The results provide evidence for a theory-predicated measure of youth perceptions of being known and loved and that scores for this construct covary within a nomological net specified in the Lerner and Lerner model of PYD. These findings serve international development organizations seeking theory-predicated measures for use in evaluating PYD programs in low- and middle-income countries.

Cuba has successfully eradicated traditional illiteracy -- with over 99% of its population considered to be literate. However, as other societies have digitized and moved towards a globalized marketplace, U.S. sanctions have severely limited the import of new technologies into the country and classroom. In response, this case study sought to investigate the learning environments of Cuban primary schools to determine the breadth of a divide and the suitability for applying recommended frameworks to teaching. Observations of primary school classrooms and facilities provided insight, bolstered by semi-structured group interviews and surveys with teachers, teaching students, and education professors. Findings revealed a high-level of awareness and optimism around the use of technology, crowdsourcing, and knowledge sharing, as well as a strong informatics-based curriculum. However, low resources and techno-determinism infringe upon equitable skill-building, continuous scaffolding, and sustainable integration.

The benefits of active music participation and training for cognitive development have been evidenced in multiple studies, with this link leveraged in music therapy approaches with clinical populations. Although music, rhythm, and movement activities are widely integrated into children's play and early education, few studies have systematically translated music therapy-based approaches to a nonclinical population to support early cognitive development. This study reports the follow-up effects of the Rhythm and Movement for Self Regulation (RAMSR) program delivered by generalist preschool teachers in low socioeconomic communities. This randomized control trial (RCT) involved 213 children across eight preschools in disadvantaged communities in Queensland, Australia. The intervention group received 16-20 sessions of RAMSR over 8 weeks, while the control group undertook usual preschool programs. Primary outcome measures included executive function (child assessment of shifting, working memory, and inhibition) and self-regulation (teacher report), with secondary outcomes of school readiness and visual-motor integration. Data were collected pre- and post-intervention, and again 6 months later once children had transitioned into school. Results demonstrated significant intervention effects across the three time points for school readiness (p = 0.038, n[subscript p] [superscript 2] = 0.09), self-regulation (p < 0.001, n[subscript p] [superscript 2] = 0.08), and inhibition (p = 0.002 n[subscript p] [superscript 2] = 0.23). Additionally, the feasibility of building capacity in teachers without any music background to successfully deliver the program was evidenced. These findings are important given that children from low socioeconomic backgrounds are more likely to need support for cognitive development yet have inequitable access to quality music and movement programs.

This article discusses infant-toddler educators' perspectives of using the Observe, Reflect, Improve Children's Learning tool (ORICL) in practice. ORICL is a new tool informed by implementation science and co-designed with Australian early childhood education and care policy-makers, practitioners, and service providers. It aims to support infant-toddler educators to observe, reflect on, assess, and improve the quality of individual children's learning experiences. Twenty-one educators working in Australian long day care and family day care services participated in the study, with a total of 66 ORICLs being completed for children ranging from 7 to 33 months of age. Educators also participated in an interview to share their experiences of using ORICL in practice. Findings show that ORICL enhanced educators' understandings of infants' and toddlers' learning, development and wellbeing, and educators' critical reflection. ORICL also helped educators to notice interactions, document and plan for children's learning, and communicate children's learning to others.

Childhood social and emotional competencies are recognized as teachable skills affecting well-being and developmental outcomes across the life span. This study sought to develop and validate a brief self-report measure of social-emotional competencies in middle childhood. The study used items from the 2015 Middle Childhood Survey, administered to a representative subsample of the New South Wales Child Development Study cohort, comprising sixth grade students (n = 26,837; aged 11-12 years) attending primary school in New South Wales, Australia. Exploratory and confirmatory factor analyses assessed the latent structure of social-emotional competencies, and item response theory and construct validity analyses evaluated the reliability, validity, and psychometric properties of the derived measure. A correlated five-factor model outperformed other latent structures (one-factor, higher order, and bifactor models) and was consistent with the framework developed by the Collaborative for Academic, Social, and Emotional Learning that informs the Australian school-based social-emotional learning curriculum, incorporating the following: Self-Awareness; Self-Management; Social Awareness; Relationship Skills; and Responsible Decision-Making. This brief (20-item), psychometrically sound, self-report measure of social-emotional competencies in middle childhood provides capacity for exploration of these skills as mediators and moderators of developmental outcomes across the life span.

BackgroundHealth behavior change following a cancer diagnosis has the potential to improve long-term outcomes. However, many patients do not receive professional advice about lifestyle and are therefore increasingly using the Internet to seek further information. The statutory and charitable sectors and cancer centers all play an important role in the provision of information and have been found to be favored by cancer survivors searching for information. However, to date there has been no systematic evaluation of the lifestyle information available online for cancer survivors. ObjectiveThe purpose of this review was to identify the lifestyle information provided for cancer survivors by statutory and charitable sector organizations and cancer centers in the United Kingdom. We aimed to identify information on tobacco, physical activity, diet, weight, and alcohol designed for people who have been diagnosed with breast, prostate, or colorectal cancer. MethodsThe National Health Service (NHS) website was the focus of the search for information provided by the statutory sector. Cancer centers were identified from the Organization of European Cancer Institutes and an Internet search, and charitable sector organizations were identified by searching the Charity Commission database. The three largest generic, breast, prostate, and colorectal cancer charitable organizations were included. A systematic search of the organizations was conducted to identify lifestyle information for cancer survivors. ResultsTen organizations had some lifestyle information for cancer survivors on their websites. The Christie NHS Foundation Trust, Macmillan Cancer Support, and Prostate Cancer UK had the most comprehensive guides, covering physical activity, diet, weight management, smoking, and alcohol. The NHS website did not provide any information but had a link to Cancer Research UK’s information about diet. Eight organizations suggested talking to a health professional before making any changes. ConclusionsThe majority of organizations included in this review would benefit from updating their websites to include adequate information and advice about lifestyle for cancer survivors, or they risk cancer survivors turning to less reliable sources of information. Health professionals should be appropriately trained to deal with questions about lifestyle and to advise cancer survivors about lifestyle changes following their diagnosis.

One of the most common indicators of a country's development is its literacy rate. However, beyond traditional conceptions of reading, writing, and arithmetic, literacies in the 21st century require additional skills and competencies geared towards the saturated and constantly changing digital environments in which we live. These skills and competencies are not yet universally -- or still, in many cases, regionally -- defined. This comparative study uses secondary desk research to investigate the education systems of two countries -- Kazakhstan and Mongolia -- to better understand the historical and social contexts in which they have approached ICTs in Education and teacher development. From this view, it then outlines different strategies and theoretical frameworks that officials and educators may use to improve teacher instruction and student learning with technology. The resulting recommendations hold the potential to assist any country with redefining national benchmarks, student scorecards, and global literacy indicators; flattening transmission models and applying digital pedagogy; redesigning in-service for teachers; and doing more to launch blended learning environments.

Limited empirical evidence is available regarding the uptake and effectiveness of school-based mental health and wellbeing programs implemented in Australian schools. This study aimed to characterise the delivery of programs in primary (elementary) schools across New South Wales, Australia, and to assess this information against published ratings of program effectiveness. Delivery of programs in four health-promoting domains--creating a positive school community; teaching social and emotional skills; engaging the parent community; and supporting students experiencing mental health difficulties--were reported by 597 school principals/leaders via online survey. Although three quarters of principals reported implementing at least one program, many of these programs were supported by little or no evidence of effectiveness. There was also variability in the use of evidence-based programs across the four domains. Findings indicate a need to provide educators with improved support to identify, implement, and evaluate effective evidenced-based programs that promote student mental health.

With increasing evidence highlighting the link between psychological factors such as self-esteem, self-efficacy and optimism on employability outcomes, this paper reports an evaluation of a unique student experience initiative called 'Life Design' developed to support the professional and personal development of undergraduate students. First year undergraduates engaged in a two-hour workshop involving interactive exercises designed to foster self-reflection, self-efficacy, and career optimism. The impact of this workshop on validated self-report measures of self-esteem, self-efficacy, and optimism, alongside career-related outcomes was explored using a prospective longitudinal design. Analyses revealed a significant immediate and sustained increase in self-esteem following Life Design, but no impact on self-efficacy or career optimism. Certainty of career developing steps increased at a later follow up, but no changes to career prospect confidence or career choice certainty were reported. This paper highlights the benefits and wider challenges of delivering and engaging students in initiatives designed to enhance employability.

School improvement reforms aimed at achieving improved student learning remain high on the agenda for leaders across the globe. The purpose of this paper is to understand the leadership attributes that enable school leaders to bring about positive change. This qualitative study is based on interviews with school leaders (school principals and their deputy principals) and focus groups of six teachers in two case study schools. A realist approach is used to understand how leadership attributes spark related social mechanisms that lead to improved outcomes. Data analysis generated four leadership attributes: (1) valuing diversity, (2) support for staff, (3) collaborative leadership style, and (4) valuing teachers' professional learning. Each of these was found to have influenced decision-making and sentiment, which generated positive school improvement outcomes in the two case study schools. These findings have the potential to contribute to professional learning which can improve understanding of how leadership attributes in context bring about school improvement.

In Australia, policy makers demand school leaders focus on raising student achievement levels when planning and implementing a school improvement (SI) plan. This paper explores the SI process for two Australian primary schools deemed to be underperforming and underwent a priority school support review (PSSR). In this study, 2 principals and members of their leadership team and 10 teachers across 2 schools were interviewed to explore how they experienced the PSSR process at different stages of the review process. Two assistant regional directors assigned to supporting the two schools during the PSSR process were also interviewed. The findings suggested that initially, school principals wondered how a PSSR would impact the morale of teaching staff already working hard to support student outcomes. However, as the schools progressed through the process, the principals' perspectives shifted to see the PSSR as a valuable process for building leadership and teacher capacity and improving student outcomes.