Linking Symptom Inventories using Semantic Textual Similarity

An extensive library of symptom inventories has been developed over time to measure clinical symptoms, but this variety has led to several long standing issues. Most notably, results drawn from different settings and studies are not comparable, which limits reproducibility. Here, we present an artificial intelligence (AI) approach using semantic textual similarity (STS) to link symptoms and scores across previously incongruous symptom inventories. We tested the ability of four pre-trained STS models to screen thousands of symptom description pairs for related content - a challenging task typically requiring expert panels. Models were tasked to predict symptom severity across four different inventories for 6,607 participants drawn from 16 international data sources. The STS approach achieved 74.8% accuracy across five tasks, outperforming other models tested. This work suggests that incorporating contextual, semantic information can assist expert decision-making processes, yielding gains for both general and disease-specific clinical assessment

Associated features in females with an FMR1 premutation

Abstract Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI). Evidence of increased risk for additional medical, psychiatric, and cognitive features and conditions is now known to exist for individuals with a premutation, although some features have been more thoroughly studied than others. This review highlights the literature on medical, reproductive, cognitive, and psychiatric features, primarily in females, that have been suggested to be associated with changes in the FMR1 gene. Based on this review, each feature is evaluated with regard to the strength of evidence of association with the premutation. Areas of need for additional focused research and possible intervention strategies are suggested

Risk and resilience in gifted young people from low socio-economic backgrounds

Gifted and talented young people from low socio-economic backgrounds are consistently under-represented in gifted programmes in New Zealand schools. This chapter reports on a qualitative study that explored the lived experiences of 101 gifted New Zealand young people from low socio-economic back-grounds. An overarching question for this study was ‘What is it about gifted young people from low socio-economic backgrounds who have achieved to exceptional levels, that has enabled them to do so?’ The risk and resilience construct was used as a lens through which to explore their experiences across a range of contexts. These young people reflected on their perceptions of their giftedness and socio-economic circumstances, their childhoods and school ex-periences, and their home lives. The stories of the participants in this study in-dicated that there are particular risks associated with both giftedness and low socio-economic status, and contribute to ideas about how these young people might be more effectively supported to develop their potential

Is cholesterol a culprit in Alzheimer\u27s disease?

A pivotal role for cholesterol influence on production of the putative AD toxin, amyloid β (Aβ), has been amply demonstrated. More importantly, this relationship has consistently been identified in both in vivo and in vitro studies. Lowering cholesterol levels has been shown to cause a beneficial effect on Aβ levels in animal models, and epidemiological data indicate a beneficial effect on the risk of AD with prior statin use. Blinded, placebo-controlled clinical investigations assessing the benefit of statins on cognitive indices in mild to moderate AD are ongoing and one will be reported on soon. A prospective study assessing the effect of statin use on the risk of AD is under way as an observational component of a placebo-controlled primary prevention trial testing anti-inflammatory agents. Nevertheless, the foregoing suggests that routine monitoring and intervention for elevated cholesterol levels among the elderly could promote more than a healthy heart