1,721,037 research outputs found
An assessment of gene-by-gene interactions as a tool to unfold missing heritability in dyslexia
No full textEven if substantial heritability has been reported and candidate genes have been identified extensively, all known marker associations explain only a small proportion of the phenotypic variance of developmental dyslexia (DD) and related quantitative phenotypes. Gene-by-gene interaction (also known as “epistasis”—G × G) triggers a non-additive effect of genes at different loci and should be taken into account in explaining part of the missing heritability of this complex trait. We assessed potential G × G interactions among five DD candidate genes, i.e., DYX1C1, DCDC2, KIAA0319, ROBO1, and GRIN2B, upon DD-related neuropsychological phenotypes in 493 nuclear families with DD, by implementing two complementary regression-based approaches: (1) a general linear model equation whereby the trait is predicted by the main effect of the number of rare alleles of the two genes and by the effect of the interaction between them, and (2) a family-based association test to detect G × G interactions between two unlinked markers by splitting up the association effect into a between- and a within-family genetic orthogonal components. After applying 500,000 permutations and correcting for multiple testing, both methods show that G × G effects between markers within the DYX1C1, KIAA0319/TTRAP, and GRIN2B genes lower the memory letters composite z-score of on average 0.55 standard deviation. We provided initial evidence that the effects of familial transmission of synergistic interactions between genetic risk variants can be exploited in the study of the etiology of DD, explain part of its missing heritability, and assist in designing customized charts of individualized neurocognitive impairments in complex disorders, such as DD
Preliminary observations about NORs, C-heterochromatin and telomeric DNA in three species of the genus Eulemur
No full textIndividual differences in theory of mind and children’s advanced scientific reasoning in elementary school
No full textRecently, there has been an increased interest in the associations between theory of mind (ToM), the ability to infer others’ mental states, and academic functioning in middle childhood including scientific reasoning. This study follows this trend and addresses two gaps in the literature. First, it examines whether individual differences in ToM primarily relate to children’s acquisition of advanced scientific reasoning or also help them overcome less-sophisticated conceptions. Second, it investigates the associations between scientific reasoning and distinct aspects of the multidimensional construct of ToM (here we assessed recursive ToM, interpretive ToM, and social awareness ToM). Participants were 84 8-, 9-, and 10-year-olds (41 F, 43 M) attending elementary school in northern Italy. Children were assessed for their ToM, scientific reasoning, inhibitory control, and verbal and non-verbal ability. Results showed that ToM was uniquely correlated with children’s acquisition of advanced conceptions of scientific reasoning but not with the overcoming of naïve and intermediate levels of understanding. Hierarchical regression analyses showed that this finding applies to all three ToM components and that the association between ToM and advanced scientific reasoning was independent of children’s general cognitive development (inhibitory control, and verbal and non-verbal ability). Overall, our findings suggest that ToM paves the way for more sophisticated reasoning in the science domain and that several distinct mechanisms may underlie this effect
Il modello Beyond Budgeting come paradigma d'innovazione imprenditoriale: un'analisi manageriale attraverso casi di studio
No full textNew Digital Technologies for Diagnosis and Rehabilitation of Neurodevelopmental Disorders
No full textIn recent years, partly due to the SARS-CoV-2 pandemic, the use of new technologies in clinical activity has increased [...
Beyond genes: A systematic review of environmental risk factors in specific reading disorder
No full textBackground: While an understanding of the genetic contributions to specific reading disorder (RD) is emerging, there is no agreement about which putative hazard factors are clearly involved in the aetiology of this disorder. Aims: A literature review looking at the impact of environmental risk variables implicated in RD either per se or when interacting with the genes. Methods and procedures: We performed a systematic literature review using the following keywords: dyslexia OR reading disability AND environmental risk factors OR environmental hazard factors, in the following electronic databases: PubMed, Scopus and PsycINFO, without any time restrictions. Outcomes and results: Gestational weeks and birth weight are among the pre- and peri-natal risk factors shown to reliably predict reading readiness and the odds of having RD. Inconclusive findings have been reported for maternal cigarette smoking, family history of psychiatric and medical diseases, and risk of miscarriage. A broad definition of familial socio-economic status and home literacy environment have been identified as good life-long risk predictors of reading skills. Conclusions and implications: We highlighted the need to consider environmental hazards, their interactions and interactions with RD-candidate genes in the study of the aetiology of RD in order to provide much-needed insight into how these variables influence reading skills
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
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