Concepcions sobre l'escriptura i benestar psicològic en els estudis de doctorat: la perspectiva dels estudiants

En el present treball es pretén analitzar i explicar la relació entre concepcions sobre escriptura científica i benestar psicològic al tercer cicle d’universitat, tant a partir d’un estudi comparatiu en el que s’analitzen els patrons obtinguts en dues mostres (631 doctorands espanyols i 939 doctorands finlandesos), com a partir d’un estudi de perfils d’escriptors centrat en els 631 espanyols. Prèviament, es tradueix i s’adapta The Writing Process Questionnaire (Lonka et al., 2014) en la població espanyola –instrument que, juntament amb una escala del MED NORD questionnaire (Lonka et al., 2008) adaptada al context del doctorat en el treball de Pyhältö et al. (2009), són els que es fan servir per a la recollida de dades. Tant l’anàlisi correlacional de factors en l'estudi comparatiu com l’anàlisi de perfils dels doctorands espanyols desvetllen la interrelació entre escriptura i benestar. D’altra banda, els resultats confirmen l’ús del The Writing Process Questionnaire com una eina fiable per aplicar en població espanyola.En el presente trabajo se pretende analizar y explicar la relación entre concepciones sobre escritura científica y bienestar psicológico en el tercer ciclo de universidad, tanto a partir de un estudio comparativo en el que se analizan los patrones obtenidos en dos muestras (631 doctorandos españoles y 939 doctorandos finlandeses), como a partir de un estudio de perfiles de escritores centrado en los 631 españoles. Previamente, se traduce y adapta The Writing Process Questionnaire (Lonka et al., 2014) en la població española –instrumento que, junto con una escala del MED NORD questionnaire (Lonka et al., 2008) adaptada al contexto del doctorado en Pyhältö et al. (2009), son los que se hacen servir para la recogida de datos. Tanto el análisis correlacional de factores en el estudio comparativo como el análisis de perfiles de los doctorandos españoles desvelan la interrelación entre escritura y bienestar. Por otro lado, los resultados confirman el uso del The Writing Process Questionnaire com una herramienta fiable para aplicar en población española.The present study aims to analyze and explain the relationship between scientific writing conceptions and psychological well-being in the third cycle of university. It includes a comparative study in which we analyze the patterns obtained in two samples (631 PhD Spanish and 939 Finnish doctoral students), and a study about writers’ profiles (focused on the 631 Spanish students). The tools used for the data collection are The Writing Process Questionnaire (Lonka et al., 2014), which is translated and adapted to the Spanish population, and one scale of the MED NORD questionnaire (Lonka et al., 2008) –adapted to the PhD context in Pyhältö et al. (2009). The correlational analysis of factors in the cross-cultural study and the analysis of profiles of the Spanish PhD students reveal a relationship between writing and well-being. Furthermore, the results sustain the use of The Writing Process Questionnaire as a reliable tool for the Spanish population

Validation of the Writing Process Questionnaire in Two Hispanic Populations : Spain and Mexico

Peer reviewe

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of which are novel for seizure disorders, such as deletions at 1p36.33, 1q44, 2p21-p16.3, 3q29, 8p23.3-p23.2, 9p24.3, 10q26.3, 15q11.2, 15q12-q13.1, 16p12.2, 17q21.31, duplications at 2q13, 9q34.3, 16p13.3, 17q12, 19p13.3, 20q13.33, and reciprocal CNVs at 16p11.2, and 22q11.21. Using genetic data from additional 248,751 individuals with 23 neuropsychiatric phenotypes, we explored the pleiotropy of these 25 loci. Finally, in a subset of individuals with epilepsy and detailed clinical data available, we performed phenome-wide association analyses between individual CNVs and clinical annotations categorized through the Human Phenotype Ontology (HPO). For six CNVs, we identified 19 significant associations with specific HPO terms and generated, for all CNVs, phenotype signatures across 17 clinical categories relevant for epileptologists. This is the most comprehensive investigation of CNVs in epilepsy and related seizure disorders, with potential implications for clinical practice

Escriptura de la tesi doctoral, benestar i context d'aprenentatge: Un estudi des de les percepcions dels doctorands

Les representacions que els estudiants es fan sobre les tasques acadèmiques són cabdals per entendre com les desenvolupen. Creiem que això no és una excepció en estudiants de doctorat amb les seves tesis i és per això que en aquesta recerca estem interessats en investigar com els estudiants entenen els estudis de doctorat. La literatura revisada preocupada per l’experiència del doctorat, és a dir, com els doctorands perceben aquest procés, se centra en variables de benestar, context d’aprenentatge i escriptura. Amb el propòsit d’obtenir un quadre complert sobre com els doctorands entenen fer una tesi, 627 doctorands han completat El Qüestionari de l’Experiència Doctoral (Lonka i altres, 2007) que hem procedit a adaptar a la població espanyola. Aquest instrument mesura les tres variables esmentades (al llarg de 49 enunciats de resposta Likert) i de forma general algunes qüestions del procés doctoral (8 preguntes de resposta oberta) que complementen/donen llum a la interpretació de les dades quantitatives. A més, es demana informació del context del doctorand (18 preguntes) que ajuda a entendre millor el desenvolupament de la tesi en cada cas. Donat que algunes dificultats que els estudiants manifesten en el doctorat tenen a veure amb la percepció de no disposar d’estratègies suficients per regular el procés d’escriptura, ens hem plantejat recollir dades més específiques en relació a l’escriptura de la tesi entrevistant 10 doctorands per separat i posteriorment junts en un focus grup. Pensem que la nostra investigació pot contribuir en la reflexió de la qualitat dels programes de doctorat ja que creiem que els estudiants tenen molt a dir i que cal escoltar les seves veus. A més, si els tutors disposen d’informació sobre com els seus alumnes viuen els estudis de doctorat, segurament entendran millor com porten a terme les seves tesis i podran oferir-los ajudes més ajustades.Students’ representations of academic tasks are crucial to understand how they develop them. We guess this is not an exception for PhD students with their thesis and this is why in this research we are interested in investigating how students understand the doctoral studies. The literature reviewed concerned about the doctoral experience, that is, how students perceive this process, focuses on well-being, learning environment and writing variables. According to this and in order to get a completed picture of the understanding PhD students have of their thesis, 627 students around Spain completed The PhD Experience Questionnaire (Lonka et al., 2007) that we proceeded to adapt in the Spanish population. This instrument measures the three mentioned variables (along 49 Likert type statements) and some questions of the PhD process in general terms (8 open-ended questions) that complement and give light to the interpretation of the quantitative data. Moreover, some background information is required (18 questions) that also help to better understand how PhD students develop their thesis. As some of the difficulties students have in their doctoral process have to do with the perception of not having enough strategies to regulate their writing process, we will collect more specific data regarding the writing of the thesis by interviewing 10 PhD students separately and afterwards together in a focus group. We think this investigation can contribute to reflect and rethink on the quality of doctoral programs as we guess students’ voice is a powerful tool that can give us clues for this issue. Moreover, if tutors have information about how their students experience PhD studies, they may be able to understand better how their students carry out their thesis and can then offer a more adjusted help in this process

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate of 0.1 or less. Of these genes, 49 show higher frequencies of disruptive de novo variants in individuals ascertained to have severe neuro-developmental delay, whereas 53 show higher frequencies in individuals ascertained to have ASD; comparing ASD cases with mutations in these groups reveals phenotypic differences. Expressed early in brain development, most risk genes have roles in regulation of gene expression or neuronal communication (i.e., mutations effect neurodevelopmental and neurophysiological changes), and 13 fall within loci recurrently hit by copy number variants. In cells from the human cortex, expression of risk genes is enriched in excitatory and inhibitory neuronal lineages, consistent with multiple paths to an excitatory-inhibitory imbalance underlying ASD

Polygenic burden in focal and generalized epilepsies

© The Author(s) (2019).Rare genetic variants can cause epilepsy, and genetic testing has been widely adopted for severe, paediatric-onset epilepsies. The phenotypic consequences of common genetic risk burden for epilepsies and their potential future clinical applications have not yet been determined. Using polygenic risk scores (PRS) from a European-ancestry genome-wide association study in generalized and focal epilepsy, we quantified common genetic burden in patients with generalized epilepsy (GE-PRS) or focal epilepsy (FE-PRS) from two independent non-Finnish European cohorts (Epi25 Consortium, n = 5705; Cleveland Clinic Epilepsy Center, n = 620; both compared to 20 435 controls). One Finnish-ancestry population isolate (Finnish-ancestry Epi25, n = 449; compared to 1559 controls), two European-ancestry biobanks (UK Biobank, n = 383 656; Vanderbilt biorepository, n = 49 494), and one Japaneseancestry biobank (BioBank Japan, n = 168 680) were used for additional replications. Across 8386 patients with epilepsy and 622 212 population controls, we found and replicated significantly higher GE-PRS in patients with generalized epilepsy of European-ancestry compared to patients with focal epilepsy (Epi25: P = 1.64×10-15; Cleveland: P = 2.85×10-4; Finnish-ancestry Epi25: P = 1.80×10-4) or population controls (Epi25: P = 2.35×10-70; Cleveland: P = 1.43×10-7; Finnish-ancestry Epi25: P = 3.11×10-4; UK Biobank and Vanderbilt biorepository meta-analysis: P = 7.99×10-4). FE-PRS were significantly higher in patients with focal epilepsy compared to controls in the non-Finnish, non-biobank cohorts (Epi25: P = 5.74×10-19; Cleveland: P = 1.69×10-6). European ancestry-derived PRS did not predict generalized epilepsy or focal epilepsy in Japanese-ancestry individuals. Finally, we observed a significant 4.6-fold and a 4.5-fold enrichment of patients with generalized epilepsy compared to controls in the top 0.5% highest GE-PRS of the two non-Finnish European cohorts (Epi25: P = 2.60×10-15; Cleveland: P = 1.39×10-2). We conclude that common variant risk associated with epilepsy is significantly enriched in multiple cohorts of patients with epilepsy compared to controls-in particular for generalized epilepsy. As sample sizes and PRS accuracy continue to increase with further common variant discovery, PRS could complement established clinical biomarkers and augment genetic testing for patient classification, comorbidity research, and potentially targeted treatment

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for the resulting phenotypic variation is unknown. As part of the ongoing Epi25 Collaboration, we performed a whole-exome sequencing analysis of 13,487 epilepsy-affected individuals and 15,678 control individuals. While prior Epi25 studies focused on gene-based collapsing analyses, we asked how the pattern of variation within genes differs by epilepsy type. Specifically, we compared the genetic architectures of severe developmental and epileptic encephalopathies (DEEs) and two generally less severe epilepsies, genetic generalized epilepsy and non-acquired focal epilepsy (NAFE). Our gene-based rare variant collapsing analysis used geographic ancestry-based clustering that included broader ancestries than previously possible and revealed novel associations. Using the missense intolerance ratio (MTR), we found that variants in DEE-affected individuals are in significantly more intolerant genic sub-regions than those in NAFE-affected individuals. Only previously reported pathogenic variants absent in available genomic datasets showed a significant burden in epilepsy-affected individuals compared with control individuals, and the ultra-rare pathogenic variants associated with DEE were located in more intolerant genic sub-regions than variants associated with non-DEE epilepsies. MTR filtering improved the yield of ultra-rare pathogenic variants in affected individuals compared with control individuals. Finally, analysis of variants in genes without a disease association revealed a significant burden of loss-of-function variants in the genes most intolerant to such variation, indicating additional epilepsy-risk genes yet to be discovered. Taken together, our study suggests that genic and sub-genic intolerance are critical characteristics for interpreting the effects of variation in genes that influence epilepsy