Retrain Your Brain: A Systematic Review of Functional Electrical Stimulation’s Effect on ADL Participation Post-Stroke

Primary Focus: Rehab, Disability & Participation Learning Objectives: Learning Objectives: ● Describe the impact of stroke on ADL performance ● Identify the role of OT in stroke rehabilitation ● Explain how Functional Electrical Stimulation (FES) falls within the scope of OT practice ● Interpret the current evidence on how FES influences ADL participation for individuals poststroke Abstract: Stroke is one of the leading causes of long term disability in the United States (Centers for Disease Control and Prevention, 2015). According to HartmanMaeir, Soroker, Ring, Avni, and Katz (2007), 57% of stroke survivors will eventually discontinue their meaningful activities, including activities of daily living (ADLs). Lack of independence in ADLs has a negative psychosocial impact (Kitson, Dow, Calabrese, Locock, & Athlin, 2012), contributes to decreased quality of life, and increased caregiver burden (Rigby, Gubitz, & Phillips, 2009). In this presentation, practitioners will be exposed to the current literature that examines the efficacy of Functional Electrical Stimulation (FES) as an intervention within the scope of occupational therapy practice to improve participation in ADLs in adults with stroke. A systematic review of the literature was conducted by searching PubMed, CINAHL, and Scopus databases. After abstract screening and fulltext rescreening, 13 articles met the inclusion criteria: participants were adults with stroke, the intervention involved electrical stimulation concurrent with a functional task, and ADL performance as an outcome measure. Articles were critically appraised using the Law McDermid Quantitative Review Form and examined for level of evidence. After critical appraisal, 3 themes were evident: FES + additional therapy, location of FES intervention, and frequency of FES intervention. While control groups that received standard therapy demonstrated improvements in ADL performance, treatment groups receiving FES in addition to standard therapy had significantly better ADL performance than control groups (You et al., 2014, Tanovic, 2009, & Tan et al., 2014). Treatments that took place within a clinic demonstrated significantly improved ADL performance (Kowalczewski et al., 2007; Tan et al., 2014; Tanovic, 2009; & You et al., 2014) while homebased treatments did not. Lastly, the only studies that demonstrated a statistically significant improvement in ADL performance consisted of FES conducted 5 or more days a week (Kowalczewski et al., 2007; Tan et al., 2014; Tanovic, 2009; & You et al., 2014). In this session, practitioners will learn how FES can be used in stroke rehabilitation and will apply this insight to guide best practice for clients who have sustained a stroke. Practitioners will understand how setting, frequency and additional therapy influence efficacy of FES for improving ADL participation. Level of material being presented: Introductory Target Audience: OT, OTA, OTS, Researcher References Centers for Disease Control and Prevention. (2015). Stroke Facts. Retrieved from http://www.cdc.gov/stroke/facts.htm Hartman-Maeir, A., Soroker, N., Ring, H., Avni, N., & Katz, N. (2007). Activities, participation and satisfaction oneyear post stroke. Disability and Rehabilitation, 29, 559–566. http://dx.doi.org/10.1080/09638280600924996 Kitson, A. L., Dow, C., Calabrese, J. D., Locock, L., & Athlin, Å. M. (2013). Stroke survivors’ experiences of the fundamentals of care: A qualitative analysis. International journal of nursing studies, 50(3), 392403[ Ma1] . Kowalczewski, J., Gritsenko, V., Ashworth, N., Ellaway, P., & Prochazka, A. (2007). Upperextremity functional electric stimulation–assisted exercises on a workstation in the subacute phase of stroke recovery. Archives of physical medicine and rehabilitation, 88(7), 833839. Rigby, H., Gubitz, G., & Phillips, S. (2009). A systematic review of caregiver burden following stroke. International Journal of Stroke, 4(4), 285292. doi: 10.1111/j.17474949.2009.00289. x Quandt, F., & Hummel, F. C. (2014). The influence of functional electrical stimulation on hand motor recover y i n stroke patients: a review. E xperimental & translational stroke medicine, 6(1), Tan, Z., Liu, H., Yan, T., Jin, D., He, X., Zheng, X., et al. (2014). The effectiveness of functional electrical stimulation based on a normal gait pattern on subjects with early stroke: A randomized controlled trial. BioMed Research International, 2014 doi:10.1155/2014/545408 Tanovic, E. (2009). Effects of functional electrical stimulation in rehabilitation with hemiparesis patients. Bosnian Journal of Basic Medical Sciences / Udruzenje Basicnih Mediciniskih Znanosti = Association of Basic Medical Sciences, 9(1), 4953. You, G., Liang, H., & Yan, T. (2014). Functional electrical stimulation early after stroke improves lower limb motor function and ability in activities of daily living. Neurorehabilitation, 35(3), 381389. doi:10.3233/NRE141129 [doi] Presentation: 38:5

The effect of episodic future simulation and motivation on young children’s induced-state episodic foresight

Examined the impact of episodic simulation and motivation on children’s episodic foresight. Thirst was induced and children were asked to make future choices. 3- to 5-year-olds completed the pretzel task under 4 different experimental conditions. Children’s future predictions were most accurate in the motivation condition. A novel and motivating food item, a cupcake, helped children overcome their current state of thirst. Future simulation and motivation are two strategies that might help children improve their induced-state episodic foresight. In Study 1, 3- to 5-year-old children (N = 96) consumed pretzels (to induce thirst) and were asked what they would prefer the next day, pretzels or water. Children were randomly assigned to an experimental condition: (1) a standard thirsty condition, (2) an episodic simulation condition where they imagined being hungry the next day, (3) a motivation condition where children chose between a cupcake and water, or (4) a control condition (thirst was not induced). Future preferences did not differ by age and children were less likely to choose water (vs. a cupcake) in the motivation condition compared to the standard thirsty condition. Study 2 found that 3- to 5-year-old children (N = 22) were also less likely to choose water for right now versus a cupcake when thirst was induced

Preclinical species gene expression database: Development and meta-analysis

The evaluation of toxicity in preclinical species is important for identifying potential safety liabilities of experimental medicines. Toxicology studies provide translational insight into potential adverse clinical findings, but data interpretation may be limited due to our understanding of cross-species biological differences. With the recent technological advances in sequencing and analyzing omics data, gene expression data can be used to predict cross species biological differences and improve experimental design and toxicology data interpretation. However, interpreting the translational significance of toxicogenomics analyses can pose a challenge due to the lack of comprehensive preclinical gene expression datasets. In this work, we performed RNA-sequencing across four preclinical species/strains widely used for safety assessment (CD1 mouse, Sprague Dawley rat, Beagle dog, and Cynomolgus monkey) in ∼50 relevant tissues/organs to establish a comprehensive preclinical gene expression body atlas for both males and females. In addition, we performed a meta-analysis across the large dataset to highlight species and tissue differences that may be relevant for drug safety analyses. Further, we made these databases available to the scientific community. This multi-species, tissue-, and sex-specific transcriptomic database should serve as a valuable resource to enable informed safety decision-making not only during drug development, but also in a variety of disciplines that use these preclinical species

Large expert-curated database for benchmarking document similarity detection in biomedical literature search

Document recommendation systems for locating relevant literature have mostly relied on methods developed a decade ago. This is largely due to the lack of a large offline gold-standard benchmark of relevant documents that cover a variety of research fields such that newly developed literature search techniques can be compared, improved and translated into practice. To overcome this bottleneck, we have established the RElevant LIterature SearcH consortium consisting of more than 1500 scientists from 84 countries, who have collectively annotated the relevance of over 180 000 PubMed-listed articles with regard to their respective seed (input) article/s. The majority of annotations were contributed by highly experienced, original authors of the seed articles. The collected data cover 76% of all unique PubMed Medical Subject Headings descriptors. No systematic biases were observed across different experience levels, research fields or time spent on annotations. More importantly, annotations of the same document pairs contributed by different scientists were highly concordant. We further show that the three representative baseline methods used to generate recommended articles for evaluation (Okapi Best Matching 25, Term Frequency-Inverse Document Frequency and PubMed Related Articles) had similar overall performances. Additionally, we found that these methods each tend to produce distinct collections of recommended articles, suggesting that a hybrid method may be required to completely capture all relevant articles. The established database server located at https://relishdb.ict.griffith.edu.au is freely available for the downloading of annotation data and the blind testing of new methods. We expect that this benchmark will be useful for stimulating the development of new powerful techniques for title and title/abstract-based search engines for relevant articles in biomedical research.Peer reviewe

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.

[en] PURPOSE: Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity, making them difficult to differentiate without a molecular diagnosis. The Clinical Genome Resource Intellectual Disability/Autism Gene Curation Expert Panel (GCEP) uses systematic curation to distinguish ID/ASD genes that are appropriate for clinical testing (ie, with substantial evidence supporting their relationship to disease) from those that are not. METHODS: Using the Clinical Genome Resource gene-disease validity curation framework, the ID/Autism GCEP classified genes frequently included on clinical ID/ASD testing panels as Definitive, Strong, Moderate, Limited, Disputed, Refuted, or No Known Disease Relationship. RESULTS: As of September 2021, 156 gene-disease pairs have been evaluated. Although most (75%) were determined to have definitive roles in NDDs, 22 (14%) genes evaluated had either Limited or Disputed evidence. Such genes are currently not recommended for use in clinical testing owing to the limited ability to assess the effect of identified variants. CONCLUSION: Our understanding of gene-disease relationships evolves over time; new relationships are discovered and previously-held conclusions may be questioned. Without periodic re-examination, inaccurate gene-disease claims may be perpetuated. The ID/Autism GCEP will continue to evaluate these claims to improve diagnosis and clinical care for NDDs

The role of networks to overcome large-scale challenges in tomography : the non-clinical tomography users research network

Our ability to visualize and quantify the internal structures of objects via computed tomography (CT) has fundamentally transformed science. As tomographic tools have become more broadly accessible, researchers across diverse disciplines have embraced the ability to investigate the 3D structure-function relationships of an enormous array of items. Whether studying organismal biology, animal models for human health, iterative manufacturing techniques, experimental medical devices, engineering structures, geological and planetary samples, prehistoric artifacts, or fossilized organisms, computed tomography has led to extensive methodological and basic sciences advances and is now a core element in science, technology, engineering, and mathematics (STEM) research and outreach toolkits. Tomorrow's scientific progress is built upon today's innovations. In our data-rich world, this requires access not only to publications but also to supporting data. Reliance on proprietary technologies, combined with the varied objectives of diverse research groups, has resulted in a fragmented tomography-imaging landscape, one that is functional at the individual lab level yet lacks the standardization needed to support efficient and equitable exchange and reuse of data. Developing standards and pipelines for the creation of new and future data, which can also be applied to existing datasets is a challenge that becomes increasingly difficult as the amount and diversity of legacy data grows. Global networks of CT users have proved an effective approach to addressing this kind of multifaceted challenge across a range of fields. Here we describe ongoing efforts to address barriers to recently proposed FAIR (Findability, Accessibility, Interoperability, Reuse) and open science principles by assembling interested parties from research and education communities, industry, publishers, and data repositories to approach these issues jointly in a focused, efficient, and practical way. By outlining the benefits of networks, generally, and drawing on examples from efforts by the Non-Clinical Tomography Users Research Network (NoCTURN), specifically, we illustrate how standardization of data and metadata for reuse can foster interdisciplinary collaborations and create new opportunities for future-looking, large-scale data initiatives

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of which are novel for seizure disorders, such as deletions at 1p36.33, 1q44, 2p21-p16.3, 3q29, 8p23.3-p23.2, 9p24.3, 10q26.3, 15q11.2, 15q12-q13.1, 16p12.2, 17q21.31, duplications at 2q13, 9q34.3, 16p13.3, 17q12, 19p13.3, 20q13.33, and reciprocal CNVs at 16p11.2, and 22q11.21. Using genetic data from additional 248,751 individuals with 23 neuropsychiatric phenotypes, we explored the pleiotropy of these 25 loci. Finally, in a subset of individuals with epilepsy and detailed clinical data available, we performed phenome-wide association analyses between individual CNVs and clinical annotations categorized through the Human Phenotype Ontology (HPO). For six CNVs, we identified 19 significant associations with specific HPO terms and generated, for all CNVs, phenotype signatures across 17 clinical categories relevant for epileptologists. This is the most comprehensive investigation of CNVs in epilepsy and related seizure disorders, with potential implications for clinical practice

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment

The development of time-based prospective memory in childhood: the role of working memory updating

This large-scale study examined the development of time-based prospective memory (PM) across childhood and the roles that working memory updating and time monitoring play in driving age effects in PM performance. One hundred and ninety-seven children aged 5 to 14 years completed a time-based PM task where working memory updating load was manipulated within individuals using a dual task design. Results revealed age-related increases in PM performance across childhood. Working memory updating load had a negative impact on PM performance and monitoring behavior in older children, but this effect was smaller in younger children. Moreover, the frequency as well as the pattern of time monitoring predicted children’s PM performance. Our interpretation of these results is that processes involved in children’s PM may show a qualitative shift over development from simple, nonstrategic monitoring behavior to more strategic monitoring based on internal temporal models that rely specifically on working memory updating resources. We discuss this interpretation with regard to possible trade-off effects in younger children as well as alternative accounts