A specific deficit of auditory processing in children with Rolandic Epilepsy and their relatives

Previous research shows that children with Rolandic Epilepsy have deficits of auditory processing. We wanted to confirm the nature of this deficit and whether it aggregates in families. We compared 40 children with Rolandic Epilepsy and 32 unaffected siblings with 99 typically developing children and 71 parents of RE children with 31 healthy adults on a battery of auditory processing tests. We also examined ear advantage in children with RE, their siblings and parents using population norms and measured non-word reading performance. We found a specific deficit for competing words in patients, their siblings and their parents, suggesting that this particular impairment of auditory processing present in children with RE, is heritable and likely to be persistent. Importantly, scores on this subtest in patients and siblings were significantly correlated with non-word reading performance. We saw increased rates of atypical left ear advantage in patients and siblings but no evidence of this in parents. We present these findings as evidence of familial incidence of dichotic listening and ear advantage abnormalities in relatives of children with Rolandic Epilepsy

Cultural Humility When Caring for LGBTQIA+ Older Adults: A Resource Guide for Occupational Therapy Practitioners and Students

The LGBTQIA+ older adult population has unique needs due to their experience as diverse individuals in a cisgender, heteronormative society. Experiences and effects of discrimination need to be considered when providing care. Occupational therapists have a role in addressing disparities of all marginalized groups, including LGBTQIA+ older adults. Practitioners may utilize cultural humility and trauma-informed practices when treating the LGBTQIA+ population. Existing resources to guide culturally humble occupational therapy care for LGBTQIA+ older adults are insufficient. The purpose of this project was to build on existing cultural humble resources and create a website on the focus of occupational therapy cultural humility considering the LGBTQIA+ older adult population. The capstone project, https://ot4lgbtqia.wordpress.com , was created in conjunction with field experience, providing needed insight while examining the older adult population in general as well as the LGBTQIA+ older adult population specifically. After a two-step process, in which observations at field sites prompted a continued literature search, discussion on the following barriers were added to the website content: internalized discrimination, LGBTQIA+ specific housing options, lack of support for caregiver role, intergenerational differences, and coming out late in life. 20 videos and supplemental resources were created to provide the audience an opportunity to increase knowledge and awareness, as well as augment skills, therefore increasing cultural humility toward the LGBTQIA+ older population.https://soar.usa.edu/otdcapstonesspring2023/1012/thumbnail.jp

Coulomb crystal mass spectrometry in a digital ion trap

We present a mass spectrometric technique for identifying the masses and relative abundances of Coulomb-crystallized ions held in a linear Paul trap. A digital radio-frequency wave form is employed to generate the trapping potential, as this can be cleanly switched off, and static dipolar fields are subsequently applied to the trap electrodes for ion ejection. Close to 100% detection efficiency is demonstrated for Ca+ and CaF+ ions from bicomponent Ca+ − CaF+ Coulomb crystals prepared by the reaction of Ca+ with CH3F. A quantitative linear relationship is observed between ion number and the corresponding integrated time-of-flight (TOF) peak, independent of the ionic species. The technique is applicable to a diverse range of multicomponent Coulomb crystals—demonstrated here for Ca+ − NH3+ − NH4+ and Ca+ − CaOH+ − CaOD+ crystals—and will facilitate the measurement of ion-molecule reaction rates and branching ratios in complicated reaction systems

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Core Health Outcomes In Childhood Epilepsy (CHOICE):Protocol for the selection of a core outcome set

This is the final version of the article. Available from BioMed Central via the DOI in this record.BACKGROUND: There is increasing recognition that establishing a core set of outcomes to be evaluated and reported in trials of interventions for particular conditions will improve the usefulness of health research. There is no established core outcome set for childhood epilepsy. The aim of this work is to select a core outcome set to be used in evaluative research of interventions for children with rolandic epilepsy, as an exemplar of common childhood epilepsy syndromes. METHODS: First we will identify what outcomes should be measured; then we will decide how to measure those outcomes. We will engage relevant UK charities and health professional societies as partners, and convene advisory panels for young people with epilepsy and parents of children with epilepsy. We will identify candidate outcomes from a search for trials of interventions for childhood epilepsy, statutory guidance and consultation with our advisory panels. Families, charities and health, education and neuropsychology professionals will be invited to participate in a Delphi survey following recommended practices in the development of core outcome sets. Participants will be able to recommend additional outcome domains. Over three rounds of Delphi survey participants will rate the importance of candidate outcome domains and state the rationale for their decisions. Over the three rounds we will seek consensus across and between families and health professionals on the more important outcomes. A face-to-face meeting will be convened to ratify the core outcome set. We will then review and recommend ways to measure the shortlisted outcomes using clinical assessment and/or patient-reported outcome measures. DISCUSSION: Our methodology is a proportionate and pragmatic approach to expediently produce a core outcome set for evaluative research of interventions aiming to improve the health of children with epilepsy. A number of decisions have to be made when designing a study to develop a core outcome set including defining the scope, choosing which stakeholders to engage, most effective ways to elicit their views, especially children and a potential role for qualitative research.This study is part of Changing Agendas on Sleep, Treatment and Learning in Childhood Epilepsy (CASTLE), which is funded by the National Institute for Health Research (NIHR) Programme Grants for Applied Research RP-PG-0615-20007

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

Objective We aimed to describe the extent of neurodevelopmental impairments and identify the genetic etiologies in a large cohort of patients with epilepsy with myoclonic atonic seizures (MAE). Methods We deeply phenotyped MAE patients for epilepsy features, intellectual disability, autism spectrum disorder, and attention-deficit/hyperactivity disorder using standardized neuropsychological instruments. We performed exome analysis (whole exome sequencing) filtered on epilepsy and neuropsychiatric gene sets to identify genetic etiologies. Results We analyzed 101 patients with MAE (70% male). The median age of seizure onset was 34 months (range = 6-72 months). The main seizure types were myoclonic atonic or atonic in 100%, generalized tonic-clonic in 72%, myoclonic in 69%, absence in 60%, and tonic seizures in 19% of patients. We observed intellectual disability in 62% of patients, with extremely low adaptive behavioral scores in 69%. In addition, 24% exhibited symptoms of autism and 37% exhibited attention-deficit/hyperactivity symptoms. We discovered pathogenic variants in 12 (14%) of 85 patients, including five previously published patients. These were pathogenic genetic variants in SYNGAP1 (n = 3), KIAA2022 (n = 2), and SLC6A1 (n = 2), as well as KCNA2, SCN2A, STX1B, KCNB1, and MECP2 (n = 1 each). We also identified three new candidate genes, ASH1L, CHD4, and SMARCA2 in one patient each. Significance MAE is associated with significant neurodevelopmental impairment. MAE is genetically heterogeneous, and we identified a pathogenic genetic etiology in 14% of this cohort by exome analysis. These findings suggest that MAE is a manifestation of several etiologies rather than a discrete syndromic entity.Peer reviewe

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The Art of Designing DNA Nanostructures with CAD Software

Since the arrival of DNA nanotechnology nearly 40 years ago, the field has progressed from its beginnings of envisioning rather simple DNA structures having a branched, multi-strand architecture into creating beautifully complex structures comprising hundreds or even thousands of unique strands, with the possibility to exactly control the positions down to the molecular level. While the earliest construction methodologies, such as simple Holliday junctions or tiles, could reasonably be designed on pen and paper in a short amount of time, the advent of complex techniques, such as DNA origami or DNA bricks, require software to reduce the time required and propensity for human error within the design process. Where available, readily accessible design software catalyzes our ability to bring techniques to researchers in diverse fields and it has helped to speed the penetration of methods, such as DNA origami, into a wide range of applications from biomedicine to photonics. Here, we review the historical and current state of CAD software to enable a variety of methods that are fundamental to using structural DNA technology. Beginning with the first tools for predicting sequence-based secondary structure of nucleotides, we trace the development and significance of different software packages to the current state-of-the-art, with a particular focus on programs that are open source