4,370 research outputs found
Polygenic profile of individual differences in language skills in a Dutch cohort (Language in Interaction BQ4)
No full textThe Individual Differences in Language Skills (IDLaS-NL) test battery was developed from 2017 to 2022 by a research team at the Max Planck Institute for Psycholinguistics (MPI-PL) in Nijmegen, the Netherlands. Funded by the Language in Interaction Consortium (https://www.languageininteraction.nl/) as part of its Big Question 4 (BQ 4) project, the battery was designed to help understand how interindividual variability in a range of processing and cognitive skills contributes to individual differences in language, across the full spectrum of abilities in young adults in the general population (Hintz et al, 2020; Hintz et al., 2023). As well as assessing production and comprehension at word and sentence levels, the battery includes measures capturing linguistic experience and domain-general cognitive skills, employing multiple tests for tapping into each aspect. At time of writing, a total of 748 Dutch participants (18-30 years old) had completed 35 tests of the IDLaS-NL test battery (Hintz et al, in prep). This provides a new and unique cohort with participants that have been deeply-phenotyped on a plethora of aspects related to language.
The use of spoken and written language is a capacity that is unique to humans, and the relevant skills are essential in our daily lives in modern society. Family and twin studies have revealed substantial genetic components contributing to individual variation in reading- and language-related traits, as well as to susceptibility to associated disorders (Deriziotis and Fisher, 2017). Recent large-scale genome-wide association studies (GWAS) led by MPI-PL researchers have identified common genetic variation contributing to individual differences in reading- and language-related traits (Eising et al, 2022, N of up to 34,000 people) and self-reported dyslexia diagnosis (Doust et al, 2022, 51,800 cases, ~1.1 million controls). While the sample sizes in the Eising and Doust studies were large, as is necessary for well powered GWAS efforts, they were limited by a shallow depth of phenotypic characterization, and mainly focused on traits connected to reading and spelling. By contrast, the newly collected IDLaS-NL cohort has a more modest sample size but is unique in being phenotypically rich, covering different aspects of language production and comprehension at multiple levels, and including features that could never be investigated in prior GWAS efforts (which were based on availability of phenotypic and genotypic data from pre-existing cohorts). For a cohort of this kind, with lower sample size (up to 1000 participants) coupled to deep phenotyping, we can use methods based on polygenic scoring (i.e, utilizing aggregate signals from common DNA variants across the genome) to validate prior findings from the Eising and Doust GWAS efforts, and to examine genetically mediated relationships with new traits that were not included in those studies
Fastq files of TEX project - part 7
No full textFastq files of whole genome sequencing data of TEX project
De novo protein-coding gene variants in developmental stuttering
No full textAbstract Developmental stuttering is a common childhood condition characterized by disfluencies in speech, such as blocks, prolongations, and repetitions. While most children who stutter do so only transiently, there are some for whom stuttering persists into adulthood. Rare-variant screens in families including multiple relatives with persistent stuttering have so far identified six genes carrying putative pathogenic variants hypothesized to act in a monogenic fashion. Here, we applied a complementary study design, searching instead for de novo variants in exomes of 85 independent parent-child trios, each with a child with transient or persistent stuttering. Exome sequencing analysis yielded a pathogenic variant in SPTBN1 as well as likely pathogenic variants in PRPF8 , TRIO , and ZBTB7A - four genes previously implicated in neurodevelopmental disorders with or without speech problems. Our results also highlighted two further genes of interest for stuttering: FLT3 and IREB2 . We used extensive bioinformatic approaches to investigate overlaps in brain-related processes among the twelve genes associated with monogenic forms of stuttering. Analyses of gene-expression datasets of the developing and adult human brain, and data from a genome-wide association study of human brain structural connectivity, did not find links of monogenic stuttering to specific brain processes. Overall, our results provide the first direct genetic link between stuttering and other neurodevelopmental disorders, including speech delay and aphasia. In addition, we systematically demonstrate a dissimilarity in biological pathways associated with the genes thus far implicated in monogenic forms of stuttering, indicating heterogeneity in the etiological basis of this condition.Max-Planck-Gesellschaft https://doi.org/10.13039/501100004189Nederlandse Organisatie voor Wetenschappelijk Onderzoek https://doi.org/10.13039/501100003246Leibniz Wissenschaftscampus primate cognitio
Fastq files of TEX project - part 3
No full textFastq files of whole genome sequencing data of TEX projec
Fastq files of TEX project - part 6
No full textFastq files of whole genome sequencing data of TEX projec
Fastq files of TEX project - part 4
No full textFastq files of whole genome sequencing data of TEX projec
Letter to Jan Else signed by Antigone Kotsiopulos and Ginny Webster
No full textThank you letter to Friends of the Gustafson Gallery member and department faculty member, Janet J. Else, signed by Department Head, Antigone Kotsiopulos, and Friends of the Gustafson Gallery President, Ginny (Virginia) Webster
A comparison of intertemporal choices for oneself versus someone else based on Tsallis’ statistics
No full textImpulsivity and inconsistency in intertemporal choice (discounting) have drawn attention in econophysics and neuroeconomics. Although it is well established that most people often show irrational discounting (e.g., hyperbolic discounting), little is known regarding whether the irrationality is mitigated or not, when the choice was performed by someone else instead of subject herself. This point is important for economic policy-making. In order to compare consistency and impulsivity in choices for oneself versus someone else, we experimentally estimated the consistency parameter q in Tsallis’ statistics-based discount function for oneself and someone else, by assessing the points of subjective equality (indifference points) at 7 delays (1 week to 25 years) in humans. We observed that (i) most people are more inconsistent when the outcomes of intertemporal choice are only relevant to someone else (q ¼ 8.89) than when relevant to oneself (q ¼ 2.63), and (ii) impulsivity, distinguished from inconsistency by utilizing the Tsallis statistics-based q-exponential discount function, is also larger in the choice for someone else than for oneself. Our results indicate that (i) leaving decision-making processes with some others may neither reduce impulsivity nor correct inconsistency and (ii) when q-exponential discounting is utilized, the definition range of q-parameter should be extended to qo0, and smaller (qo1) and larger (q41) values indicate more inconsistent discounting. Together, the usefulness of the q-exponential discounting for analyzing the dynamic consistency of economic policy was demonstrated in the present study
Fräulein Else : Textanalyse aus psychologischer und epochentypischer Perspektive
No full textThis literary work has been chosen to focus on a novel called Fräulein Else and is written by Arthur Schnitzler. The author has chosen to focus the work on comparing the work with theera of the time the book was written and analyze the plot and character Else from apsychoanalytic perspective. The title of the paper is therefore ”Fräulein Else-Textanalyse aus epochentypischer Perspektive und Analyse der Hauptfigur auspsychologischer Sicht”. By collecting and reading student literature that touches on factsabout literature of the era: the millennium literature and literature on psychoanalysis, theauthor has been able to begin the analysis of the book, Fräulein Else and then be able toanswer her questions. The sources for the work come mainly from student literature but alsofrom copywriters who intend to spread knowledge. This study results in a deep characteristicanalysis of the main character as well as a comparison of the book and epoch-makingfeatures
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