Fifteen-minute consultation: The efficient investigation of infantile and childhood epileptic encephalopathies in the era of modern genomics

The investigation of children presenting with infantile and childhood epileptic encephalopathies (ICEE) is challenging due to diverse aetiologies, overlapping phenotypes and the relatively low diagnostic yield of MRI, electroencephalography (EEG) and biochemical investigations. Careful history and thorough examination remain essential as these may identify an acquired cause or indicate more targeted investigation for a genetic disorder. Whole exome sequencing (WES) with analysis of a panel of candidate epilepsy genes has increased the diagnostic yield. Whole genome sequencing (WGS), particularly as a trio with both parents' DNA, is likely to supersede WES. Modern genomic investigation impacts on the timing and necessity of other testing. We propose a structured approach for children presenting with ICEE where there is diagnostic uncertainty, emphasising the importance of WGS or, if unavailable, WES early in the investigative process. We note the importance of expert review of all investigations, including radiology, neurophysiology and biochemistry, to confirm the technique used was appropriate as well as the results. It is essential to counsel families on the risks associated with the procedures, the yield of the procedures, findings that are difficult to interpret and implication of 'negative' results. Where children remain without a diagnosis despite comprehensive investigation, we note the importance of ongoing multidisciplinary care

Evidence translation in a youth mental health service: clinician perspectives

An evidence–practice gap is well established in the mental health field, and knowledge translation is identified as a key strategy to bridge the gap. This study outlines a knowledge translation strategy, which aims to support clinicians in using evidence in their practice within a youth mental health service ( headspace). We aim to evaluate the strategy by exploring clinicians’ experiences and preferences. The translation strategy includes the creation and dissemination of evidence translation resources that summarize the best available evidence and practice guidelines relating to the management of young people with mental disorders. Semi-structured interviews were conducted with 14 youth mental health clinicians covering three topics: experiences with evidence translation resources, preferences for evidence presentation, and suggestions regarding future translation efforts. Interviews were recorded, transcribed verbatim, coded, and analyzed using thematic analysis. Themes were both predetermined by interview topic and identified freely from the data. Clinicians described their experiences with the evidence translation resources as informing decision making, providing a knowledge base, and instilling clinical confidence. Clinicians expressed a preference for brief, plain language summaries and for involvement and consultation during the creation and dissemination of resources. Suggestions to improve the dissemination strategy and the development of new areas for evidence resources were identified. The knowledge translation efforts described support clinicians in the provision of mental health services for young people. The preferences and experiences described have valuable implications for services implementing knowledge translation strategies

Physical activity and exercise in youth mental health promotion: A scoping review

Background/Aim: This scoping review examined the breadth and outcomes of controlled trials testing the effect of physical activity and exercise interventions across all mental health outcomes for mental health promotion and indicated prevention studies in young people. Methods: The literature search was conducted using 'Evidence Finder'. Results: Thirty publications were included. Available evidence suggested that interventions of varying intensity may lead to a reduction in depression symptoms and that moderate-to-vigorous-intensity and light-intensity interventions may reduce anxiety symptoms. Effects of physical activity/exercise interventions on additional mental health outcomes were also shown; however, the number of studies was small, indicating a limited evidence base. Robust research regarding the effects of physical activity/exercise on mental health promotion and as an indicated prevention strategy in young people is lacking. Conclusion: The available evidence suggests that physical activity/exercise is a promising mental health promotion and early intervention strategy and warrants further investigation

Exercise interventions for mental disorders in young people: a scoping review

Aims This scoping review determines the breadth and outcomes of controlled trials testing the effect of physical activity/exercise interventions across mental health outcomes in young people with a mental disorder.Methods The literature search was conducted using the open-access ‘Evidence Finder’, a comprehensive youth mental health-specific database that is systematically populated from MEDLINE, Embase, PsycINFO and Cochrane CENTRAL databases.Results Sixteen publications were identified after meeting the following eligibility criteria: (1) participants were young people (mean age 12–25.9 years) with a mental disorder diagnosed by a trained clinician or by reaching a predefined cut score on a symptom measure, (2) interventions were exercise, (3) designs were randomised or non-randomised controlled trials, (4) outcomes were mental health related. Eight studies included young people with depression, three included people with psychosis/schizophrenia, three included people with eating disorders and two included people with anxiety. The available evidence suggests that moderate-to-vigorous-intensity exercise may be beneficial, particularly for reducing depression. The available evidence for other intervention intensities, and for other mental disorders, is mixed.Conclusions Overall, the evidence regarding the impact of exercise interventions on a range of mental health outcomes in clinical populations of young people with various mental disorders looks promising but requires further development. Findings from this scoping review can inform the development of future exercise interventions in the youth mental health field

Performance analysis of using mine water from an abandoned coal mine for heating of buildings using an open loop based single shaft GSHP system

The application of ground source heat pumps (GSHP) for heating and cooling of buildings is currently increasing in popularity in the UK and globally. Traditional GSHP systems use the naturally available geothermal gradient of earth for heating and cooling purposes using open loop or closed loop systems. In this paper, the use of mine water from a flooded coal mine for heating of buildings is presented using a GSHP system with an open loop configuration. The novelty of this approach is that a single shaft is used to extract the warm water and inject the cooler water back into the same shaft, thereby minimising the area needed, initial capital costs in constructing a doublet system and also potentially overcome the time consuming process to address related environmental agencies regulation regarding the discharging of the mine water. The relatively stable temperature low enthalpy of mine water contained in the abandoned and flooded coal mines are ideal to be used for both heating and cooling of buildings when used in conjunction with heat pumps. The GSHP is considered to be an effective means of reducing the carbon emission as it gives more output in the form of thermal energy in comparison to the electrical energy it consumes as input. This research work reports on the performance of the system over the winter season and its long term potential in converting the mine water from an environmental liability to a sustainable energy resource and offers a means to regenerate the former coal mining areas

Sensory-to-motor integration during auditory repetition: a combined fMRI and lesion study.

The aim of this paper was to investigate the neurological underpinnings of auditory-to-motor translation during auditory repetition of unfamiliar pseudowords. We tested two different hypotheses. First we used functional magnetic resonance imaging in 25 healthy subjects to determine whether a functionally defined area in the left temporo-parietal junction (TPJ), referred to as Sylvian-parietal-temporal region (Spt), reflected the demands on auditory-to-motor integration during the repetition of pseudowords relative to a semantically mediated nonverbal sound-naming task. The experiment also allowed us to test alternative accounts of Spt function, namely that Spt is involved in subvocal articulation or auditory processing that can be driven either bottom-up or top-down. The results did not provide convincing evidence that activation increased in either Spt or any other cortical area when non-semantic auditory inputs were being translated into motor outputs. Instead, the results were most consistent with Spt responding to bottom up or top down auditory processing, independent of the demands on auditory-to-motor integration. Second, we investigated the lesion sites in eight patients who had selective difficulties repeating heard words but with preserved word comprehension, picture naming and verbal fluency (i.e., conduction aphasia). All eight patients had white-matter tract damage in the vicinity of the arcuate fasciculus and only one of the eight patients had additional damage to the Spt region, defined functionally in our fMRI data. Our results are therefore most consistent with the neurological tradition that emphasizes the importance of the arcuate fasciculus in the non-semantic integration of auditory and motor speech processing

Development of practice principles for the management of ongoing suicidal ideation in young people diagnosed with major depressive disorder

Objectives: There is a lack of clear guidance regarding the management of ongoing suicidality in young people experiencing major depressive disorder. This study utilised an expert consensus approach in identifying practice principles to complement relevant clinical guidelines for the treatment of major depressive disorder in young people. The study also sought to outline a broad treatment framework for clinical intervention with young people experiencing ongoing suicidal ideation. Methods: In-depth focus groups were undertaken with a specialist multidisciplinary clinical team (the Youth Mood Clinic at Orygen Youth Health Clinical Program, Melbourne) working with young people aged 15–25 years experiencing ongoing suicidal ideation. Each focus group was audio recorded and transcribed verbatim using orthographic conventions. Principles of grounded theory and thematic analysis were used to analyse and code the resultant data. Results: The identified codes were subsequently synthesised into eight practice principles reflecting engagement and consistency of care, ongoing risk assessment and documentation, individualised crisis planning, engaging systems of support, engendering hopefulness, development of adaptive coping, management of acute risk, and consultation and supervision. Conclusions: The identified practice principles provide a broad management framework, and may assist to improve treatment consistency and clinical management of young people experiencing ongoing suicidal ideation. The practice principles may be of use to health professionals working within a team-based setting involved in the provision of care, even if peripherally, to young people with ongoing suicidal ideation. Findings address the lack of treatment consistency and shared terminology and may provide containment and guidance to multidisciplinary clinicians working with this at-risk group

The Cost of Sex: Quantifying Energetic Investment in Gamete Production by Males and Females

The relative energetic investment in reproduction between the sexes forms the basis of sexual selection and life history theories in evolutionary biology. It is often assumed that males invest considerably less in gametes than females, but quantifying the energetic cost of gamete production in both sexes has remained a difficult challenge. For a broad diversity of species (invertebrates, reptiles, amphibians, fishes, birds, and mammals), we compared the cost of gamete production between the sexes in terms of the investment in gonad tissue and the rate of gamete biomass production. Investment in gonad biomass was nearly proportional to body mass in both sexes, but gamete biomass production rate was approximately two to four orders of magnitude higher in females. In both males and females, gamete biomass production rate increased with organism mass as a power law, much like individual metabolic rate. This suggests that whole-organism energetics may act as a primary constraint on gamete production among species. Residual variation in sperm production rate was positively correlated with relative testes size. Together, these results suggest that understanding the heterogeneity in rates of gamete production among species requires joint consideration of the effects of gonad mass and metabolism

Evidence Propagation and Consensus Formation in Noisy Environments

We study the effectiveness of consensus formation in multi-agent systems where there is both belief updating based on direct evidence and also belief combination between agents. In particular, we consider the scenario in which a population of agents collaborate on the best-of-n problem where the aim is to reach a consensus about which is the best (alternatively, true) state from amongst a set of states, each with a different quality value (or level of evidence). Agents' beliefs are represented within Dempster-Shafer theory by mass functions and we investigate the macro-level properties of four well-known belief combination operators for this multi-agent consensus formation problem: Dempster's rule, Yager's rule, Dubois & Prade's operator and the averaging operator. The convergence properties of the operators are considered and simulation experiments are conducted for different evidence rates and noise levels. Results show that a combination of updating on direct evidence and belief combination between agents results in better consensus to the best state than does evidence updating alone. We also find that in this framework the operators are robust to noise. Broadly, Yager's rule is shown to be the better operator under various parameter values, i.e. convergence to the best state, robustness to noise, and scalability.Comment: 13th international conference on Scalable Uncertainty Managemen