A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

Interest of priming techniques in the prevention of risk behaviors in winter sports

Les sports d'hiver regroupent un ensemble d’activité très répandus en France et dans le monde. Chaque année, les secouristes réalisent environ 50 000 interventions suite à des blessures sur les domaines skiables Français. Dans ce contexte, des campagnes de sensibilisation sont mises en place afin de diminuer l’adoption de comportements à risque sur les pistes de ski.Afin de renforcer ces campagnes, nous proposons d’utiliser les techniques d’amorçage développées en psychologie sociale. La technique développée consiste à réexposer les pratiquants à une amorce issue d’une affiche, à laquelle ils étaient préalablement exposés, préconisant de ralentir afin de diminuer leur vitesse sur les pistes. Plusieurs modérateurs impliqués dans la prise de risque ont été envisagés, à savoir la personnalité (recherche de sensation et impulsivité), l’autorégulation émotionnelle (fuite et évitement), le système nerveux autonome (représenté par le tonus vagal) et le risque objectif de se blesser.Dans trois études de laboratoire, nous montrons l’efficacité de la procédure d’amorçage afin de diminuer la prise de risque liée à la vitesse en ski. Parmi les principaux résultats, nous montrons que la recherche de sensation et le tonus vagal sont des facteurs modérateurs de la susceptibilité à l’amorçage. Nous montrons également, et de façon inattendue, la sensibilité particulière à l’amorçage d’un message de nature relaxante pour réduire la prise de risque en contexte de sports d’hiver.Deux études en situation écologique ont aussi été réalisées pour tester la procédure directement sur une piste de ski. Nous confirmons avec ces deux études que la réexposition à une amorce issue d’une affiche permet de réduire significativement la vitesse, particulièrement l’après-midi lorsque le risque de blessure est élevé.Ces travaux dans leur ensemble montrent que la procédure d’amorçage est efficace pour réduire la vitesse en sports d’hiver. La recherche de sensation, le système nerveux autonome et le risque objectif de se blesser devraient également être pris en compte dans la conception des campagnes de sensibilisation basée sur notre procédure d’amorçage. En conclusion, ces travaux sont les premiers du genre à avoir développé et testé une procédure originale de prévention afin de réduire la prise de risque en sports d’hiver.Winter sports include a wide range of activities in France and around the world. Each year, rescuers perform about 50 000 intervention on French ski areas. In this context, prevention campaigns are developed to reduce risk behaviors on ski slopes.To enhance these campaigns, we propose to use the priming techniques. The technique consists in re-exposing skiers to a prime from a poster including a message advocating to slow down (to which they were previously exposed) in order to decrease the speed on ski slopes. Moderators involved in risk-taking were also considered, namely personality (sensation seeking and impulsivity), emotional self-regulation (escape and avoidance), autonomic nervous system (represented by vagal tone) and objective risk to injury.In three laboratory studies, we show the effectiveness of the priming procedure in order to reduce the risk-taking associated with speed in skiing. Among main results, we show that sensation seeking and vagal tone are important factors in susceptibility to the priming. We also show an unexpected result on the priming of a relaxing message to reduce the risk-taking in winter sports.Two ecological studies were also carried out to test the procedure directly on a ski slope. We confirm with these two studies that re-exposure to a leader from a poster significantly reduces speed, particularly for afternoon with a high risk injury.This work shows that the priming procedure is effective to reduce the speed in winter sports. The sensation-seeking, the autonomic nervous system and the objective injury risk should also be taken into account in the design of prevention campaigns based on our priming procedure. This work is the first to have developed and tested an original procedure to reduce the risk taking in winter sports

Pedagogical agent and gender stereotypes

Pedagogical agents are virtual characters in digital environments used for educational purposes to enhance learning (MohamedTaibMohtad, 2014; Noha et al., 2017). These pedagogical agents are increasingly used in online educational platforms. We want to test whether gender stereotypes apply to pedagogical agents.In this study, we want to test whether pedagogical agents' perceptions can be influenced by the avatar's gender, its stereotypical task congruence and the participants' level of sexism

Étude de la validité d’une mesure de l’attention auto-rapportée en milieu scolaire

S’il paraît assez trivial pour un enseignant d’appréhender le niveau global de concentration d’un groupe d’élèves en classe, il n’est pas si évident de mesurer simplement, rapidement et objectivement le niveau d’attention de chaque élève. Pourtant, l’attention est un facteur déterminant des apprentissages scolaires. L’objectif de cet article est de tester la validité d’une mesure qui permettrait d’évaluer l’attention des élèves de manière auto-rapportée. Cent soixante-trois élèves âgés entre 11 et 12 ans issus de 9 collèges ont rempli un questionnaire permettant d’évaluer leur attention durant le temps scolaire. En parallèle, leurs enseignants ont évalué leurs niveaux de maîtrise scolaire et d'attention à travers une échelle éprouvée (SWAN-F). Cette étude montre que les élèves enquêtés ont une bonne connaissance de leurs propres capacités d'attention en classe qui est significativement liée à l'évaluation qu'en font leurs enseignants. Une telle mesure auto-rapportée est donc un outil simple qui peut s'avérer utile en classe pour les enseignants comme pour les chercheurs.This seems trivial for a teacher to understand the global level of concentration of students in class. However, this is not evident to measure easily, rapidly, and objectively the level of attention of each student. Yet, attention is a main factor for school-based learning. The goal of this paper is to test the validity of a measure allowing to evaluate the students’ self-reported attention. One hundred and sixty-three students between 11 and 12 years old from 9 middle schools completed a questionnaire evaluating their attention during school time. At the same time, teachers assessed their scholar expertise level and attention with a proven scale (SWAN-F). This study shows that students surveyed have good knowledge about their attentional capacities in class, which is significantly related to the evaluations from their teachers. This measure is a simple tool that can be helpful in class for teachers as well as researchers

Do learners make more pauses in instructional videos when taking notes?

This study aimed to test the benefit of note-taking on pauses and learning in online educational videos. Participants (N = 72) were randomly assigned to one of two note-taking conditions (allowed or not) with the possibility to take pauses during a 10-minute online instructional video on the autonomic nervous system. The results did not reveal a significant correlation between note-taking and the number of pauses. Moreover, we observed no significant effect of note-taking on learning performance. However, prior knowledge and age affected significantly the relationship between pauses, note-taking and learning performance. We discuss the importance of prior knowledge and age for future research

How Can I Help You? The Influence of Situation and Hostile Sexism on Perception of Appropriate Gender of Conversational Agents

Conversational agents (CAs) are increasingly being developed on commercial websites nowadays. We tested in two studies whether gender stereotypes apply to non-gendered CAs. In the first study, participants evaluated whether CAs are expected to display more masculine or feminine characteristics in situations designed to be stereotypically male or female. The sexist attitudes of the respondents were also measured. As predicted, participants perceived that a CA should be more masculine in stereotypically male situations and more feminine in stereotypically female situations. Moreover, we found that hostile sexism but not benevolent sexism moderated the effect of the gendered situation. The second study replicated the results while addressing the limits of Study 1, showing the robustness of these effects. These findings are consistent with models of gender stereotypes in humans and robots and show for the first time a moderation effect of (hostile) sexism in a customer service context with CAs. The processes involved in human relationships seem relevant in a digital environment that involves CAs. Researchers and professionals should work together to avoid reproducing and perpetuating gender stereotypes when developing CAs

The Impact of Priming on Speed Reduction on a Ski Slope

International audienceWe tested a field-adapted priming procedure (a technique used to subtly activate mental representations and guide behavior) on a ski slope, with the goal of reducing risk behavior in winter sports. At cableway stations, skiers were initially exposed eight times to a prevention poster displaying a logo and a "slow down" message. The "slow down" concept was activated on the ski slope by exposing skiers (or not) 10 times to the logo featured on the poster. We used a radar device to measure the skiers' speed data just before a slope intersection. We hypothesized that the mean speed would be lower in the presence of the logo than in its absence. As predicted, the speed was lower (by 0.9 km/h) when the skiers had been primed (i.e., exposed to the logo). This decrease was relevant, since any reduction in speed downhill will reduce kinetic (impact) energy and thus the risk of injury in a collision. The effect of priming was statistically significant at noon and in the afternoon but not in the morning. Our pilot study is the first to show that a priming procedure can influence the speed of skiers at a dangerous location. Our findings open up new perspectives for the prevention of risk behavior in winter sports

Sleep habits and their relation to self-reported attention and class climate in preteens

International audienc