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1. Influence of age at seizure onset on the acquisition of neurodevelopmental skills in an SCN8A cohort

   https://doi.org/10.1111/epi.16288  

   Encinas, Alejandra C. ; Moore, Ida ; Watkins, Joseph C. ; Hammer, Michael F. ( July 2019 , Epilepsia)

   To characterize a cohort of patients withSCN8A‐related epilepsy and to perform analyses to identify correlations involving the acquisition of neurodevelopmental skills.

   We analyzed patient data (n = 91) submitted to an online registry tailored to characteristics of children withSCN8Avariants. Participants provided information on the history of their child's seizures, medications, comorbidities, and developmental skills based on the DenverIIitems. Spearman rank tests were utilized to test for correlations among a variety of aspects of seizures, medications, and neurodevelopmental progression.

   The 91 participants carried 71 missense variants (41 newly reported) and three truncating variants. Ages at seizure onset ranged from birth to >12 months of age (mean ± SD = 5 months 21 days ± 7 months 14 days). Multiple seizure types with multimodal onset times and developmental delay were observed as general features of this cohort. We found a positive correlation between a developmental score based upon percentage of acquired skills and the age at seizure onset, current seizure freedom, and initial febrile seizures. Analyses of cohort subgroups revealed clear distinctions between patients who had a single reported variant inSCN8Aand those with an additional variant reported in a gene other thanSCN8A, as well as between patients with different patterns of regression before and at seizure onset.

   This is the first study of anSCN8A patient cohort of this size and for which correlations between age at seizure onset and neurodevelopment were investigated. Our correlation studies suggest that variants of uncertain significance should be considered in assessing children withSCN8A‐related disorders. This study substantially improves the characterization of this patient population and our understanding of the neurodevelopmental effects associated with seizures forSCN8A patients, and provides a clinical context at initial presentation that may be prognostic for developmental outcome.

    

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2. Arabidopsis bioinformatics resources: The current state, challenges, and priorities for the future

   https://doi.org/10.1002/pld3.109  

   International Arabidopsis Informatics Consortium ( January 2019 , Plant Direct)

   Effective research, education, and outreach efforts by theArabidopsis thalianacommunity, as well as other scientific communities that depend on Arabidopsis resources, depend vitally on easily available and publicly‐shared resources. These resources include reference genome sequence data and an ever‐increasing number of diverse data sets and data types.TAIR(The Arabidopsis Information Resource) and Araport (originally named the Arabidopsis Information Portal) are community informatics resources that provide tools, data, and applications to the more than 30,000 researchers worldwide that use in their work either Arabidopsis as a primary system of study or data derived from Arabidopsis. Four years after Araport's establishment, theIAICheld another workshop to evaluate the current status of Arabidopsis Informatics and chart a course for future research and development. The workshop focused on several challenges, including the need for reliable and current annotation, community‐defined common standards for data and metadata, and accessible and user‐friendly repositories/tools/methods for data integration and visualization. Solutions envisioned included (a) a centralized annotation authority to coalesce annotation from new groups, establish a consistent naming scheme, distribute this format regularly and frequently, and encourage and enforce its adoption. (b) Standards for data and metadata formats, which are essential, but challenging when comparing across diverse genotypes and in areas with less‐established standards (e.g., phenomics, metabolomics). Community‐established guidelines need to be developed. (c) A searchable, central repository for analysis and visualization tools. Improved versioning and user access would make tools more accessible. Workshop participants proposed a “one‐stop shop” website, an Arabidopsis “Super‐Portal” to link tools, data resources, programmatic standards, and best practice descriptions for each data type. This must have community buy‐in and participation in its establishment and development to encourage adoption.

    

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3. Isolated premature restriction or closure of foramen ovale in fetuses: Echocardiographic characteristics and outcome

   https://doi.org/10.1111/echo.14009  

   Gu, Xiaoyan ; Zhang, Ye ; Han, Jiancheng ; Liu, Xiaowei ; Ge, Shuping ; He, Yihua ( May 2018 , Echocardiography)

   Premature restriction or closure of foramen ovale (FO) in otherwise structurally normal hearts may be associated with right ventricular dilation, tricuspid regurgitation, pericardial effusion, heart failure, even poor perinatal outcomes. Data about these rare conditions are lacking.

   We retrospectively reviewed the echocardiographic records of 9704 fetuses seen from 2010 to 2014 in Beijing Anzhen Hospital, a regional and national referral center, to ascertain the presence of restriction or closure ofFO. We collected the fetal echocardiography and perinatal outcome data for this group of fetuses with restriction or closure ofFO.

   In this large, single‐institution cohort (n = 9704), 6707 fetuses seen between 23 and 37 weeks of gestation had normal heart structures; of these, 60 (0.89%) had restrictiveFO(rFO) and 5 (0.07%) had closure ofFO(cFO). Fetal echocardiographic images showed right atrial dilation in 48 (73.84%), right ventricular dilation in 38 (58.46%), tricuspid regurgitation in 19 (29.23%), and pericardial effusion in 10 (15.38%). Also in this group, 50 (83.3%) withrFOand 4 (80.0%) withcFOhad follow‐up data. No prenatal deaths occurred in either therFOor thecFOgroup, but the neonatal mortality included 1 in therFOgroup and 2 in thecFOgroup.

   PrematurerFO/cFOare rare in fetuses with otherwise structurally normal hearts. The fetal echocardiographic characteristics include right atrial and ventricular dilated, tricuspid regurgitation, and pericardial effusion. Most fetuses had a good outcome, although there was an association betweenrFO, especiallycFO, with neonatal morality and complications (prematurity, maternal preeclampsia and placental abruption, hydrops fetalis, and necrotizing enterocolitis with perforation).

    

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4. Feasibility, Acceptability, and Initial Efficacy of Delivering Alcohol Use Cognitive Interventions via Crowdsourcing

   https://doi.org/10.1111/acer.13987  

   Strickland, Justin C. ; Hill, J. Chauncey ; Stoops, William W. ; Rush, Craig R. ( March 2019 , Alcoholism: Clinical and Experimental Research)

   Inhibitory control training and working memory training are 2 cognitive interventions that have been considered for alcohol use disorder (AUD). Existing studies have typically relied on small samples that preclude the evaluation of small effects. Crowdsourcing is a sampling method that can address these limitations by effectively and efficiently recruiting large samples with varying health histories. This study tested the feasibility and acceptability of delivering cognitive training interventions via crowdsourcing.

   Participants withAUDwere recruited from the crowdsourcing website Amazon Mechanical Turk (mTurk) (ClinicalTrials.gov;NCT03438539). Following completion of a baseline survey, participants were randomized to an inhibitory control, working memory, or control training condition. Participants were asked to complete training tasks daily over a 2‐week period. Follow‐up assessments evaluating acceptability measures and alcohol and soda consumption were completed immediately following and 2 weeks after training.

   Response rates were satisfactory over the 2‐week intervention period (65% of training tasks completed), and performance on training tasks was consistent with expected effects. A majority of participants indicated that they were satisfied with the study procedures (94.6%), would participate again (97.4%), and would consider incorporating the training task in their daily life (81.1%). Modest reductions in alcohol consumption were observed (e.g., 0.5 drinking day/wk), primarily in the inhibitory control group, and these effects were selective to alcohol use and did not extend to soda consumption.

   These findings demonstrate the feasibility and acceptability of utilizing crowdsourcing methods for interventions development. Such a demonstration helps establish the crowdsourcing setting for future large sample studies testing novel interventions forAUDand other substance use disorders.

    

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5. Acoustic enhancement of sleep slow oscillations in mild cognitive impairment

   https://doi.org/10.1002/acn3.796  

   Papalambros, Nelly A. ; Weintraub, Sandra ; Chen, Tammy ; Grimaldi, Daniela ; Santostasi, Giovanni ; Paller, Ken A. ; Zee, Phyllis C. ; Malkani, Roneil G. ( July 2019 , Annals of Clinical and Translational Neurology)

   Slow‐wave activity (SWA) during sleep is reduced in people with amnestic mild cognitive impairment (aMCI) and is related to sleep‐dependent memory consolidation. Acoustic stimulation of slow oscillations has proven effective in enhancingSWAand memory in younger and older adults. In this study we aimed to determine whether acoustic stimulation during sleep boostsSWAand improves memory performance in people withaMCI.

   Nine adults withaMCI(72 ± 8.7 years) completed one night of acoustic stimulation (stim) and one night of sham stimulation (sham) in a blinded, randomized crossover study. Acoustic stimuli were delivered phase‐locked to the upstate of the endogenous sleep slow‐waves. Participants completed a declarative recall task with 44 word‐pairs before and after sleep.

   During intervals of acoustic stimulation,SWAincreased by >10% over sham intervals (P < 0.01), but memory recall increased in only five of the nine patients. The increase inSWAwith stimulation was associated with improved morning word recall (r = 0.78,P = 0.012).

   Acoustic stimulation delivered during slow‐wave sleep over one night was effective for enhancingSWAin individuals withaMCI. Given established relationships betweenSWAand memory, a larger or more prolonged enhancement may be needed to consistently improve memory inaMCI.

    

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