Action-Related Representations

Theories of grounded cognition state that there is a meaningful connection between action and cognition. Although these claims are widely accepted, the nature and structure of this connection is far from clear and is still a matter of controversy. This book argues for a type of cognitive representation that essentially combines cognition and action, and which is foundational for higher-order cognitive capacities

Action-Related Representations

Theories of grounded cognition state that there is a meaningful connection between action and cognition. Although these claims are widely accepted, the nature and structure of this connection is far from clear and is still a matter of controversy. This book argues for a type of cognitive representation that essentially combines cognition and action, and which is foundational for higher-order cognitive capacities

Digitalization and Democracy: Thoughts to the discussion on E-Voting

The general mantra is that digitisation is necessary to make companies and public administration more efficient. In both cases, more efficient ideally means better, faster, and more convenient; what it also usually implies is cheaper. In this paper we focus on the public side of the issue, namely on the topic of democracy. We also consideraspects of the polling system. For instance, e-voting should help increase poll participation and promote inclusion, however, it also has its pitfalls

Early and Differential Diagnosis of Dementia and Mild Cognitive Impairment Design and Cohort Baseline Characteristics of the German Dementia Competence Network

Background: The German Dementia Competence Network (DCN) has established procedures for standardized multicenter acquisition of clinical, biological and imaging data, for centralized data management, and for the evaluation of new treatments. Methods: A longitudinal cohort study was set up for patients with mild cognitive impairment (MCI), patients with mild dementia and control subjects. The aims were to establish the diagnostic, differential diagnostic and prognostic power of a range of clinical, laboratory and imaging methods. Furthermore, 2 clinical trials were conducted with patients suffering from MCI and mild to moderate Alzheimer's Disease (AD). These trials aimed at evaluating the efficacy and safety of the combination of galantamine and memantine versus galantamine alone. Results: Here, we report on the scope and projects of the DCN, the methods that were employed, the composition and flow within the diverse groups of patients and control persons and on the clinical and neuropsychological baseline characteristics of the group of 2,113 subjects who participated in the observational and clinical trials. Conclusion: These data have an impact on the procedures for the early and differential clinical diagnosis of dementias, the current standard treatment of AD as well as on future clinical trials in AD. Copyright (C) 2009 S. Karger AG, Base

DQAgui: a graphical user interface for the MIRACUM data quality assessment tool

Background With the growing impact of observational research studies, there is also a growing focus on data quality (DQ). As opposed to experimental study designs, observational research studies are performed using data mostly collected in a non-research context (secondary use). Depending on the number of data elements to be analyzed, DQ reports of data stored within research networks can grow very large. They might be cumbersome to read and important information could be overseen quickly. To address this issue, a DQ assessment (DQA) tool with a graphical user interface (GUI) was developed and provided as a web application. Methods The aim was to provide an easy-to-use interface for users without prior programming knowledge to carry out DQ checks and to present the results in a clearly structured way. This interface serves as a starting point for a more detailed investigation of possible DQ irregularities. A user-centered development process ensured the practical feasibility of the interactive GUI. The interface was implemented in the R programming language and aligned to Kahn et al.’s DQ categories conformance, completeness and plausibility. Results With DQAgui, an R package with a web-app frontend for DQ assessment was developed. The GUI allows users to perform DQ analyses of tabular data sets and to systematically evaluate the results. During the development of the GUI, additional features were implemented, such as analyzing a subset of the data by defining time periods and restricting the analyses to certain data elements. Conclusions As part of the MIRACUM project, DQAgui is now being used at ten German university hospitals for DQ assessment and to provide a central overview of the availability of important data elements in a datamap over 2 years. Future development efforts should focus on design optimization and include a usability evaluation

Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred

Tourette syndrome (TS) is a frequent neuropsychiatric disorder of unknown etiology. A number of chromosomal regions have been nominated as TS loci in linkage studies, but confirmation has met with limited success and causative mutations have not yet been definitely identified. Furthermore, TS, chronic tics, and obsessive–compulsive disorder (OCD) occur at increased frequencies among TS relatives, supporting the view that these phenotypes represent parts of the same genetically determined spectrum. We ascertained a four-generation Italian kindred segregating TS, chronic multiple motor tics (CMT), and OCD, and we performed a ten-centimorgan (cM) genome-wide linkage scan in order to map the underlying genetic defect. Suggestive linkage to chromosome 14q31.1 (multipoint LOD = 2.4) was detected by affected-only analysis under an autosomal dominant model and a narrower phenotype definition (only the subjects with TS and CMT were considered as affected). The linkage peak increased and it approached genome-wide significance (LOD = 3.29) when a broader phenotype definition was adopted (subjects with TS, CMT, and OCD considered as affected). Haplotype analysis defined a ∼2.3 cM critical region, shared by all the relatives with TS, CMT, or OCD. In conclusion, we provide strong evidence for linkage of TS spectrum to chromosome 14q31.1. Suggestive linkage to an overlapping region of chromosome 14q was reported in a recent scan of TS sibling pairs. This region might therefore contain an important gene for TS, and it should be prioritized for further study

Indications of Linkage and Association of Gilles de la Tourette Syndrome in Two Independent Family Samples: 17q25 Is a Putative Susceptibility Region

Gilles de la Tourette syndrome (GTS) is characterized by multiple motor and phonic tics and high comorbidity rates with other neurobehavioral disorders. It is hypothesized that frontal-subcortical pathways and a complex genetic background are involved in the etiopathogenesis of the disorder. The genetic basis of GTS remains elusive. However, several genomic regions have been implicated. Among them, 17q25 appears to be of special interest, as suggested by various independent investigators. In the present study, we explored the possibility that 17q25 contributes to the genetic component of GTS. The initial scan of chromosome 17 performed on two large pedigrees provided a nonparametric LOD score of 2.41 near D17S928. Fine mapping with 17 additional microsatellite markers increased the peak to 2.61 (P=.002). The original families, as well as two additional pedigrees, were genotyped for 25 single-nucleotide polymorphisms (SNPs), with a focus on three genes in the indicated region that could play a role in the development of GTS, on the basis of their function and expression profile. Multiple three-marker haplotypes spanning all three genes studied provided highly significant association results (P<.001). An independent sample of 96 small families with one or two children affected with GTS was also studied. Of the 25 SNPs, 3 were associated with GTS at a statistically significant level. The transmission/disequilibrium test for a three-site haplotype moving window again provided multiple positive results. The background linkage disequilibrium (LD) of the region was studied in eight populations of European origin. A complicated pattern was revealed, with the pairwise tests producing unexpectedly high LD values at the telomeric TBCD gene. In conclusion, our findings warrant the further investigation of 17q25 as a candidate susceptibility region for GTS