Development of an Integrated Governance Strategy for the Voluntary and Community Sector

This report on governance provides a framework for thinking about how policy makers, funders,regulators and advisers can all work with Board members and staff to enhance the effectiveness of nonprofit organisations. It was commissioned by the Active Community Unit (ACU) of the Home Office, in parallel with other reviews designed to improve the capacity of the voluntary and community sector, at a time when the sector plays an increasingly important role in the delivery of services using public funds. That role has recently been investigated in two Government reports, the Cross Cutting Review carried out by the Treasury, and the Strategy Unit review of charities and nonprofits. Our report proposes actions of three types: some that can be taken immediately, some that require further discussion with key interests, and some integration with the other ACU reviews. Taken together they provide the starting point for an evolving strategy to improve governance across the sector. We recommend ACU chairs a group charged with the responsibility for planning and implementing this. Our focus is on governance as 'the systems and processes concerned with ensuring the overall direction, supervision and accountability of an organisation'. This is often taken to mean the way that a Board, management committee or other governing body steers the overall development of an organisation, where day-to-day management is in the hands of staff or volunteers. Sometimes, of course, the committee and volunteers are the same. They – like all governing bodies – have to balance the interests of the organisation and those they are trying to serve, while being conscious of financial and legal responsibilities, and the requirements of funders and other supporters

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6

We describe a sibling pair displaying an early infantile-onset, progressive neurodegenerative phenotype, with symptoms of developmental delay and epileptic encephalopathy developing from, to, months of age. Using whole exome sequencing, compound heterozygous variants were identified in SLC, A, which encodes the sodium-dependent multivitamin transporter, SMVT, protein. SMVT is an important transporter of the B-group vitamins biotin, pantothenate, and lipoate. The protein is ubiquitously expressed and has major roles in vitamin uptake in the digestive system, as well as transport of these vitamins across the blood, brain barrier. Pathogenicity of the identified variants was demonstrated by impaired biotin uptake of mutant SMVT. Identification of this vitamin transporter as the genetic basis of this disorder guided targeted therapeutic intervention, resulting clinically in improvement of the patient, s neurocognitive and neuromotor function. This is the second report of biallelic mutations in SLC, A, leading to a neurodegenerative disorder due to impaired biotin, pantothenate and lipoate uptake. The genetic and phenotypic overlap of these cases confirms mutations in SLC, A, as the genetic cause of this disease phenotype. Recognition of the genetic disorder caused by SLC, A, mutations is essential for early diagnosis and to facilitate timely intervention by triple vitamin, biotin, pantothenate, and lipoate, replacement therapy.Steven W. Polyak ... Andreas W. Schreiber ... Christopher N. Hahn ... Dylan A. Mordaunt ... Drago Bratkovic, Grant W. Booker, Nicholas J. Smith, Hamish S. Scot

Mutual aid groups in psychiatry and substance misuse

Background: Mutuality is a feature of many ‘self-help groups’ for people with mental health and/or substance misuse needs. These groups are diverse in terms of membership, aims, organisation and resources. Collectively, in terms of the pathways for seeking help, support, social capital or simply validation as people, mutual aid groups figure at some time in the life story of many psychiatric and/or substance misuse patients. From the viewpoint of clinical services, relations with such groups range from formal collaboration, through incidental shared care, via indifference, to incomprehension, suspicion, or even hostility. How should mental health and substance misuse clinicians relate to this informal care sector, in practice? Aims: To synthesise knowledge about three aspects of the relationship between psychiatric/substance misuse services and mutual aid groups: profile groups' engagement of people with mental health and/or substance misuse needs at all stages of vulnerability, illness or recovery; characterise patterns of health benefit or harm to patients, where such outcome evidence exists; identify features of mutual aid groups that distinguish them from clinical services. Method: A search of both published and unpublished literature with a focus on reports of psychiatric and substance misuse referral routes and outcomes, compiled for meta-synthesis. Results: Negative outcomes were found occasionally, but in general mutual aid group membership was repeatedly associated with positive benefits. Conclusions: Greater awareness of this resource for mental health and substance misuse fields could enhance practice

A meta-analysis of two high-risk prospective cohort studies reveals autism-specific transcriptional changes to chromatin, autoimmune, and environmental response genes in umbilical cord blood

Abstract Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects more than 1% of children in the USA. ASD risk is thought to arise from both genetic and environmental factors, with the perinatal period as a critical window. Understanding early transcriptional changes in ASD would assist in clarifying disease pathogenesis and identifying biomarkers. However, little is known about umbilical cord blood gene expression profiles in babies later diagnosed with ASD compared to non-typically developing and non-ASD (Non-TD) or typically developing (TD) children. Methods Genome-wide transcript levels were measured by Affymetrix Human Gene 2.0 array in RNA from cord blood samples from both the Markers of Autism Risk in Babies-Learning Early Signs (MARBLES) and the Early Autism Risk Longitudinal Investigation (EARLI) high-risk pregnancy cohorts that enroll younger siblings of a child previously diagnosed with ASD. Younger siblings were diagnosed based on assessments at 36 months, and 59 ASD, 92 Non-TD, and 120 TD subjects were included. Using both differential expression analysis and weighted gene correlation network analysis, gene expression between ASD and TD, and between Non-TD and TD, was compared within each study and via meta-analysis. Results While cord blood gene expression differences comparing either ASD or Non-TD to TD did not reach genome-wide significance, 172 genes were nominally differentially expressed between ASD and TD cord blood (log2(fold change) > 0.1, p < 0.01). These genes were significantly enriched for functions in xenobiotic metabolism, chromatin regulation, and systemic lupus erythematosus (FDR q < 0.05). In contrast, 66 genes were nominally differentially expressed between Non-TD and TD, including 8 genes that were also differentially expressed in ASD. Gene coexpression modules were significantly correlated with demographic factors and cell type proportions. Limitations ASD-associated gene expression differences identified in this study are subtle, as cord blood is not the main affected tissue, it is composed of many cell types, and ASD is a heterogeneous disorder. Conclusions This is the first study to identify gene expression differences in cord blood specific to ASD through a meta-analysis across two prospective pregnancy cohorts. The enriched gene pathways support involvement of environmental, immune, and epigenetic mechanisms in ASD etiology.https://deepblue.lib.umich.edu/bitstream/2027.42/152245/1/13229_2019_Article_287.pd

Nudging towards COVID-19 and influenza vaccination uptake in medically at-risk children : EPIC study protocol of randomised controlled trials in Australian paediatric outpatient clinics

Introduction: Children with chronic medical diseases are at an unacceptable risk of hospitalisation and death from influenza and SARS-CoV-2 infections. Over the past two decades, behavioural scientists have learnt how to design non-coercive ‘nudge’ interventions to encourage positive health behaviours. Our study aims to evaluate the impact of multicomponent nudge interventions on the uptake of COVID-19 and influenza vaccines in medically at-risk children. Methods and analyses: Two separate randomised controlled trials (RCTs), each with 1038 children, will enrol a total of approximately 2076 children with chronic medical conditions who are attending tertiary hospitals in South Australia, Western Australia and Victoria. Participants will be randomly assigned (1:1) to the standard care or intervention group. The nudge intervention in each RCT will consist of three text message reminders with four behavioural nudges including (1) social norm messages, (2) different messengers through links to short educational videos from a paediatrician, medically at-risk child and parent and nurse, (3) a pledge to have their child or themselves vaccinated and (4) information salience through links to the current guidelines and vaccine safety information. The primary outcome is the proportion of medically at-risk children who receive at least one dose of vaccine within 3 months of randomisation. Logistic regression analysis will be performed to determine the effect of the intervention on the probability of vaccination uptake. Ethics and dissemination: The protocol and study documents have been reviewed and approved by the Women’s and Children’s Health Network Human Research Ethics Committee (HREC/22/WCHN/2022/00082). The results will be published via peer-reviewed journals and presented at scientific meetings and public forums. Trial registration number: NCT05613751

The self-organizing fractal theory as a universal discovery method: the phenomenon of life

A universal discovery method potentially applicable to all disciplines studying organizational phenomena has been developed. This method takes advantage of a new form of global symmetry, namely, scale-invariance of self-organizational dynamics of energy/matter at all levels of organizational hierarchy, from elementary particles through cells and organisms to the Universe as a whole. The method is based on an alternative conceptualization of physical reality postulating that the energy/matter comprising the Universe is far from equilibrium, that it exists as a flow, and that it develops via self-organization in accordance with the empirical laws of nonequilibrium thermodynamics. It is postulated that the energy/matter flowing through and comprising the Universe evolves as a multiscale, self-similar structure-process, i.e., as a self-organizing fractal. This means that certain organizational structures and processes are scale-invariant and are reproduced at all levels of the organizational hierarchy. Being a form of symmetry, scale-invariance naturally lends itself to a new discovery method that allows for the deduction of missing information by comparing scale-invariant organizational patterns across different levels of the organizational hierarchy