TY - JOUR A1 - Höse, Anna A1 - Wyschkon, Anne A1 - Moraske, Svenja A1 - Eggeling, Marie A1 - Quandte, Sabine A1 - Kohn, Juliane A1 - Poltz, Nadine A1 - von Aster, Michael G. A1 - Esser, Günter T1 - Prevention of dyslexia short-term and intermediate effects of promoting phonological awareness and letter-sound correspondence with at-risk preschool children JF - Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie N2 - Objective: This study assesses the short-term and intermediate effects of preschool training stimulating phonological awareness and letter-sound correspondence for children at risk of developing dyslexia. Moreover, we examined whether training reduced the frequency of subsequent dyslexic problems. Method: 25 children at risk of developing dyslexia were trained with Horen, Lauschen, Lernen 1 und 2 (Kuspert & Schneider, 2008; Plume & Schneider, 2004) by their kindergarten teachers and were compared with 60 untrained at-risk children. Results:The training revealed a significant short-term effect: The phonological awareness of trained at-risk children increased significantly over that of untrained at-risk children. However, there were no differences in phonological awareness, spelling, and reading ability between the first-graders in the training and control group. Furthermore, reading problems were reduced in the training group. Conclusions: In the future, phonological awareness as well as additional predictors should be included when identifying children vulnerable to developing dyslexia. Moreover, in order to prevent dyslexia, additional prerequisite deficits need to be identified, alleviated, and their effects evaluated. KW - developmental dyslexia KW - phonological awareness KW - prevention KW - risk KW - specific developmental disorder Y1 - 2016 U6 - https://doi.org/10.1024/1422-4917/a000456 SN - 1422-4917 SN - 1664-2880 VL - 44 SP - 377 EP - 391 PB - Hogrefe CY - Bern ER - TY - JOUR A1 - Moraske, Svenja A1 - Penrose, Anna A1 - Wyschkon, Anne A1 - Kohn, Juliane A1 - Rauscher, Larissa A1 - von Aster, Michael G. A1 - Esser, Günter T1 - Prävention von Rechenstörungen T1 - Prevention of Dyscalculia BT - Kurz- und mittelfristige Effekte einer Förderung der mathematischen Kompetenzen bei Risikokindern im Vorschulalter BT - Short-Term and Intermediate Effects of Stimulating Numerical Competencies for Children at Risk in Preschool JF - Kindheit und Entwicklung N2 - Ziel ist die Überprüfung der kurz- und mittelfristigen Wirksamkeit einer vorschulischen Förderung des Mengen- und Zahlenverständnisses bei Kindern mit einem Risiko für die Entwicklung einer Rechenstörung. Es wurden 32 Risikokinder mit einer Kombination aus den Förderprogrammen Mathematik im Vorschulalter und Mengen, zählen, Zahlen im letzten Kindergartenjahr von den Erzieherinnen trainiert und mit 38 untrainierten Risikokindern verglichen. Hinsichtlich der kurzfristigen Wirksamkeit zeigten sich positive Trainingseffekte auf die numerischen Leistungen im letzten Kindergartenjahr. Es ließen sich keine signifikanten mittelfristigen Trainingseffekte auf die Rechenleistungen im zweiten Halbjahr der 1. Klasse finden. Das eingesetzte vorschulische Präventionsprogramm leistete danach einen wichtigen Beitrag zur kurzfristigen Verbesserung der mathematischen Basiskompetenzen. N2 - A slew of studies has shown that training programs teaching numerical competencies have positive short-term effects on mathematical performance. The results for the intermediate effects are not consistent and there are only a few studies on this issue. The aim of this investigation was to evaluate the short-term and intermediate effects of a preschool training program stimulating numerical competencies for children at risk of developing dyscalculia (<= 10th percentile). During the last kindergarten year, 32 children at risk were trained with a combination of the intervention Mathematik im Vorschulalter and Mengen, zahlen, Zahlen by their kindergarten teachers, who were trained and supervised. Contents of the preschool training were: counting, number knowledge up to 10, comprehension of quantity concept, visual differentiation, spatial ability, simple arithmetic operation, handling of symbols, realizing abstract-logical correlations, and identifying cause-effect relations. The training lasted 11 weeks and took place twice a week (session duration = 30-40 min). Children who participated in at least 50% of the sessions were included. The control group consisted of 38 untrained children at risk. For measuring numerical competencies in kindergarten, a subtest of the instrument Basisdiagnostik Umschriebener Entwicklungsstorungen im Vorschulalter - Version III (BUEVA-III) was used, and for measuring mathematical performance the test Deutsche Mathematiktest fur erste Klassen (DEMAT 1+) was used. Before the training there were no group differences between the training and control group regarding mathematical performance and overall intelligence. The training showed positive short-term effects for numerical competencies in the last kindergarten year (medium effect size). While trained children could significantly improve their mathematical competencies to an average level (from 34 to 41 t-value points), the performances of the untrained children stayed below average. Unfortunately, there were no significant intermediate effects for mathematical performance in the second half of the first grade. Regarding the diagnosis of dyscalculia as defined by the ICD-10, it was not possible to gather a sufficiently large sample in the first grade fulfilling the criteria to test differences between training and control groups. Methodological limitations of this study were the missing random allocation to treatment conditions, a large drop-out rate, and long testing periods. The preschool training that was used to stimulate numerical competencies contributed significantly toward improving numerical competencies in the short term. Further investigations will determine the long-term effects of the training in the second and third grade. This is particularly important because dyscalculia occurring from the second grade on is a stable phenomenon. KW - developmental dyscalculia KW - numerical competence KW - prevention KW - risk KW - specific developmental disorder KW - Rechenstörung KW - Zahlen- und Mengenverständnis KW - Prävention KW - Risiko KW - Umschriebene Entwicklungsstörung Y1 - 2017 U6 - https://doi.org/10.1026/0942-5403/a000242 SN - 0942-5403 SN - 2190-6246 VL - 27 IS - 1 SP - 31 EP - 42 PB - Hogrefe CY - Göttingen ER - TY - JOUR A1 - Van Hout, Cristopher V. A1 - Tachmazidou, Ioanna A1 - Backman, Joshua D. A1 - Hoffman, Joshua D. A1 - Liu, Daren A1 - Pandey, Ashutosh K. A1 - Gonzaga-Jauregui, Claudia A1 - Khalid, Shareef A1 - Ye, Bin A1 - Banerjee, Nilanjana A1 - Li, Alexander H. A1 - O'Dushlaine, Colm A1 - Marcketta, Anthony A1 - Staples, Jeffrey A1 - Schurmann, Claudia A1 - Hawes, Alicia A1 - Maxwell, Evan A1 - Barnard, Leland A1 - Lopez, Alexander A1 - Penn, John A1 - Habegger, Lukas A1 - Blumenfeld, Andrew L. A1 - Bai, Xiaodong A1 - O'Keeffe, Sean A1 - Yadav, Ashish A1 - Praveen, Kavita A1 - Jones, Marcus A1 - Salerno, William J. A1 - Chung, Wendy K. A1 - Surakka, Ida A1 - Willer, Cristen J. A1 - Hveem, Kristian A1 - Leader, Joseph B. A1 - Carey, David J. A1 - Ledbetter, David H. A1 - Cardon, Lon A1 - Yancopoulos, George D. A1 - Economides, Aris A1 - Coppola, Giovanni A1 - Shuldiner, Alan R. A1 - Balasubramanian, Suganthi A1 - Cantor, Michael A1 - Nelson, Matthew R. A1 - Whittaker, John A1 - Reid, Jeffrey G. A1 - Marchini, Jonathan A1 - Overton, John D. A1 - Scott, Robert A. A1 - Abecasis, Goncalo R. A1 - Yerges-Armstrong, Laura M. A1 - Baras, Aris T1 - Exome sequencing and characterization of 49,960 individuals in the UK Biobank JF - Nature : the international weekly journal of science N2 - The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world(1). Here we describe the release of exome-sequence data for the first 49,960 study participants, revealing approximately 4 million coding variants (of which around 98.6% have a frequency of less than 1%). The data include 198,269 autosomal predicted loss-of-function (LOF) variants, a more than 14-fold increase compared to the imputed sequence. Nearly all genes (more than 97%) had at least one carrier with a LOF variant, and most genes (more than 69%) had at least ten carriers with a LOF variant. We illustrate the power of characterizing LOF variants in this population through association analyses across 1,730 phenotypes. In addition to replicating established associations, we found novel LOF variants with large effects on disease traits, includingPIEZO1on varicose veins,COL6A1on corneal resistance,MEPEon bone density, andIQGAP2andGMPRon blood cell traits. We further demonstrate the value of exome sequencing by surveying the prevalence of pathogenic variants of clinical importance, and show that 2% of this population has a medically actionable variant. Furthermore, we characterize the penetrance of cancer in carriers of pathogenicBRCA1andBRCA2variants. Exome sequences from the first 49,960 participants highlight the promise of genome sequencing in large population-based studies and are now accessible to the scientific community.
Exome sequences from the first 49,960 participants in the UK Biobank highlight the promise of genome sequencing in large population-based studies and are now accessible to the scientific community. KW - clinical exome KW - breast-cancer KW - mutations KW - recommendations KW - gene KW - metaanalysis KW - variants, KW - BRCA1 KW - risk KW - susceptibility Y1 - 2020 U6 - https://doi.org/10.1038/s41586-020-2853-0 SN - 0028-0836 SN - 1476-4687 VL - 586 IS - 7831 SP - 749 EP - 756 PB - Macmillan Publishers Limited CY - London ER - TY - JOUR A1 - Li, Chen A1 - Stoma, Svetlana A1 - Lotta, Luca A. A1 - Warner, Sophie A1 - Albrecht, Eva A1 - Allione, Alessandra A1 - Arp, Pascal P. A1 - Broer, Linda A1 - Buxton, Jessica L. A1 - Boeing, Heiner A1 - Langenberg, Claudia A1 - Codd, Veryan T1 - Genome-wide association analysis in humans links nucleotide metabolism to leukocyte telomere length JF - American Journal of Human Genetics N2 - Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studies including up to 78,592 individuals. We identify 49 genomic regions at a false dicovery rate (FDR) < 0.05 threshold and prioritize genes at 31, with five highlighting nucleotide metabolism as an important regulator of LTL. We report six genome-wide significant loci in or near SENP7, MOB1B, CARMIL1 , PRRC2A, TERF2, and RFWD3, and our results support recently identified PARP1, POT1, ATM, and MPHOSPH6 loci. Phenome-wide analyses in >350,000 UK Biobank participants suggest that genetically shorter telomere length increases the risk of hypothyroidism and decreases the risk of thyroid cancer, lymphoma, and a range of proliferative conditions. Our results replicate previously reported associations with increased risk of coronary artery disease and lower risk for multiple cancer types. Our findings substantially expand current knowledge on genes that regulate LTL and their impact on human health and disease. KW - Mendelian randomization KW - risk KW - variants KW - disease KW - cancer KW - loci KW - database KW - genes KW - heart KW - gwas Y1 - 2019 VL - 106 IS - 3 PB - Elsevier CY - Amsterdam ER - TY - JOUR A1 - Sairam, Nivedita A1 - Brill, Fabio Alexander A1 - Sieg, Tobias A1 - Farrag, Mostafa A1 - Kellermann, Patric A1 - Viet Dung Nguyen, A1 - Lüdtke, Stefan A1 - Merz, Bruno A1 - Schröter, Kai A1 - Vorogushyn, Sergiy A1 - Kreibich, Heidi T1 - Process-based flood risk assessment for Germany JF - Earth's future / American Geophysical Union N2 - Large-scale flood risk assessments are crucial for decision making, especially with respect to new flood defense schemes, adaptation planning and estimating insurance premiums. We apply the process-based Regional Flood Model (RFM) to simulate a 5000-year flood event catalog for all major catchments in Germany and derive risk curves based on the losses per economic sector. The RFM uses a continuous process simulation including a multisite, multivariate weather generator, a hydrological model considering heterogeneous catchment processes, a coupled 1D-2D hydrodynamic model considering dike overtopping and hinterland storage, spatially explicit sector-wise exposure data and empirical multi-variable loss models calibrated for Germany. For all components, uncertainties in the data and models are estimated. We estimate the median Expected Annual Damage (EAD) and Value at Risk at 99.5% confidence for Germany to be euro0.529 bn and euro8.865 bn, respectively. The commercial sector dominates by making about 60% of the total risk, followed by the residential sector. The agriculture sector gets affected by small return period floods and only contributes to less than 3% to the total risk. The overall EAD is comparable to other large-scale estimates. However, the estimation of losses for specific return periods is substantially improved. The spatial consistency of the risk estimates avoids the large overestimation of losses for rare events that is common in other large-scale assessments with homogeneous return periods. Thus, the process-based, spatially consistent flood risk assessment by RFM is an important step forward and will serve as a benchmark for future German-wide flood risk assessments. KW - risk model chain KW - continuous simulation KW - expected annual damage KW - risk KW - curves KW - multi-sector risk Y1 - 2021 U6 - https://doi.org/10.1029/2021EF002259 SN - 2328-4277 VL - 9 IS - 10 PB - Wiley-Blackwell CY - Hoboken, NJ ER - TY - JOUR A1 - Gomez Zapata, Juan Camilo A1 - Zafrir, Raquel A1 - Pittore, Massimiliano A1 - Merino, Yvonne T1 - Towards a sensitivity analysis in seismic risk with probabilistic building exposure models BT - an application in Valparaiso, Chile using ancillary open-source data and parametric ground motions JF - ISPRS International Journal of Geo-Information N2 - Efforts have been made in the past to enhance building exposure models on a regional scale with increasing spatial resolutions by integrating different data sources. This work follows a similar path and focuses on the downscaling of the existing SARA exposure model that was proposed for the residential building stock of the communes of Valparaiso and Vina del Mar (Chile). Although this model allowed great progress in harmonising building classes and characterising their differential physical vulnerabilities, it is now outdated, and in any case, it is spatially aggregated over large administrative units. Hence, to more accurately consider the impact of future earthquakes on these cities, it is necessary to employ more reliable exposure models. For such a purpose, we propose updating this existing model through a Bayesian approach by integrating ancillary data that has been made increasingly available from Volunteering Geo-Information (VGI) activities. Its spatial representation is also optimised in higher resolution aggregation units that avoid the inconvenience of having incomplete building-by-building footprints. A worst-case earthquake scenario is presented to calculate direct economic losses and highlight the degree of uncertainty imposed by exposure models in comparison with other parameters used to generate the seismic ground motions within a sensitivity analysis. This example study shows the great potential of using increasingly available VGI to update worldwide building exposure models as well as its importance in scenario-based seismic risk assessment. KW - exposure KW - buildings KW - Bayesian model KW - downscaling KW - OpenStreetMap KW - ground motion fields KW - sensitivity KW - earthquake KW - vulnerability KW - risk Y1 - 2022 U6 - https://doi.org/10.3390/ijgi11020113 SN - 2220-9964 VL - 11 IS - 2 PB - MDPI CY - Basel ER - TY - JOUR A1 - Kamali, Bahareh A1 - Jahanbakhshi, Farshid A1 - Dogaru, Diana A1 - Dietrich, Jörg A1 - Nendel, Claas A1 - AghaKouchak, Amir T1 - Probabilistic modeling of crop-yield loss risk under drought: a spatial showcase for sub-Saharan Africa JF - Environmental research letters N2 - Assessing the risk of yield loss in African drought-affected regions is key to identify feasible solutions for stable crop production. Recent studies have demonstrated that Copula-based probabilistic methods are well suited for such assessment owing to reasonably inferring important properties in terms of exceedance probability and joint dependence of different characterization. However, insufficient attention has been given to quantifying the probability of yield loss and determining the contribution of climatic factors. This study applies the Copula theory to describe the dependence between drought and crop yield anomalies for rainfed maize, millet, and sorghum crops in sub-Saharan Africa (SSA). The environmental policy integrated climate model, calibrated with Food and Agriculture Organization country-level yield data, was used to simulate yields across SSA (1980-2012). The results showed that the severity of yield loss due to drought had a higher magnitude than the severity of drought itself. Sensitivity analysis to identify factors contributing to drought and high-temperature stresses for all crops showed that the amount of precipitation during vegetation and grain filling was the main driver of crop yield loss, and the effect of temperature was stronger for sorghum than for maize and millet. The results demonstrate the added value of probabilistic methods for drought-impact assessment. For future studies, we recommend looking into factors influencing drought and high-temperature stresses as individual/concurrent climatic extremes. KW - Copula theory KW - crop model KW - drought stress KW - joint probability KW - risk Y1 - 2022 U6 - https://doi.org/10.1088/1748-9326/ac4ec1 SN - 1748-9326 VL - 17 IS - 2 PB - IOP Publishing CY - Bristol ER -