ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.

ASXL3-related disorder, sometimes referred to as Bainbridge-Ropers syndrome, was first identified as a distinct neurodevelopmental disorder by Bainbridge et al. in 2013. Since then, there have been a number of case series and single case reports published worldwide. A comprehensive review of the literature was carried out. Abstracts were screened, relevant literature was analysed, and descriptions of common phenotypic features were quantified. ASXL3 variants were collated and categorised. Common phenotypic features comprised global developmental delay or intellectual disability (97%), feeding problems (76%), hypotonia (88%) and characteristic facial features (93%). The majority of genetic variants were de novo truncating variants in exon 11 or 12 of the ASXL3 gene. Several gaps in our knowledge of this disorder were identified, namely, underlying pathophysiology and disease mechanism, disease contribution of missense variants, relevance of variant location, prevalence and penetrance data. Clinical information is currently limited by patient numbers and lack of longitudinal data, which this review aims to address.

A systematic review of technology-assisted interventions for co-morbid depression and substance use.

INTRODUCTION: Mental health interventions disseminated via, or accessed using, digital technologies are an innovative new treatment modality for managing co-morbid depression and substance use disorder. The present systematic review assessed the current state of this literature. METHODS: A search of the Cochrane Library, Embase, Pubmed, PsycInfo and Scopus databases identified six eligible studies ( Nparticipants = 862), utilising quasi-experimental or randomised controlled designs. Reporting quality was evaluated and Hedges' g effect sizes (with 95% confidence intervals and p-values) were calculated to determine treatment effectiveness. Process outcomes (e.g. treatment satisfaction, attrition rates) were also examined. RESULTS: Quality ratings demonstrated high internal validity, although external validity was low. Effect size data revealed medium to large and short-term improvements in severity of depression and substance use symptoms in addition to global improvement in social, occupational and psychological functioning. Longer-term treatment effectiveness could not be established, due to the limited available data. Preliminary findings suggest that there was high client satisfaction, therapeutic alliance and client engagement. DISCUSSION: Mobile phone devices and the Internet can help to increase access to care for those with mental health co-morbidity. Large-scale and longitudinal research is, however, needed before digital mental healthcare becomes standard practice. This includes establishing critical therapeutic factors including optimum levels of assistance from clinicians.

Plasma sodium levels and dietary sodium intake in manual workers in the Middle East.

OBJECTIVES: To investigate the hypothesis that workers who consume a predominantly rice-based, low-sodium diet and perform long periods of manual work in the heat are at risk of chronic hyponatraemia due to inadequate replacement of sweat sodium losses. METHODS: Plasma sodium levels were assessed at the end of both the summer and winter periods in 44 male dockyard workers in the Middle East. The dietary intake of these workers was recorded and analysed by an Accredited Practicing Dietitian to determine average daily sodium intake. RESULTS: 55% of workers were found to be clinically hyponatraemic during the summer period compared with only 8% during the winter period. Assessment of the daily diet of workers in the labour camp revealed it to be predominantly starch based with low total sodium content. The majority of the fluids provided to workers are also low in sodium content. CONCLUSIONS: Manual labourers working in the heat and eating a low-sodium starch-based diet are at risk of chronic hyponatraemia. Increasing the sodium content of fluid and food provided to workers is warranted and may reduce the incidence of work-related illness and accidents in this population. The results of this study identify a need for sodium replacement guidelines specific for prolonged work in the heat to be developed.