Communication disturbances are prevalent in schizophrenia, and since it is a heritable illness these are likely present - albeit in a muted form - in the relatives of patients. Given the time-consuming, and often subjective nature of discourse analysis, these deviances are frequently not assayed in large scale studies. Recent work in computational linguistics and statistical-based semantic analysis has shown the potential and power of automated analysis of communication. We present an automated and objective approach to modeling discourse that detects very subtle deviations between probands, their first-degree relatives and unrelated healthy controls. Although these findings should be regarded as preliminary due to the limitations of the data at our disposal, we present a brief analysis of the models that best differentiate these groups in order to illustrate the utility of the method for future explorations of how language components are differentially affected by familial and illness related issues.
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http://dx.doi.org/10.1016/j.jneuroling.2009.05.002 | DOI Listing |
Alzheimers Dement
December 2024
Department of Psychiatry and Psychotherapy, Medical Faculty, University of Cologne, Cologne, Germany.
Background: Due to further development of diagnostic methods of early-stage diagnosis of Alzheimer's disease (AD) and new disease-modifying treatment options that require early diagnosis, a new focus on predictive and preventive medicine arises. With progress in AD dementia risk estimation, guidelines for counseling, considering individual aspects of those affected, are becoming more important. As part of the trinational project PreTAD (The Predictive Turn in Alzheimer's Disease: Ethical, Clinical, Linguistic and Legal Aspects) anticipated effects of AD dementia risk estimation for first-degree relatives of people with AD dementia are evaluated.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellin, Colombia.
Background: Genetic testing for individuals with dominantly inherited Alzheimer's disease (DIAD) is now of greater relevance due to the existence of therapeutic trials available to this population. However, the impact and main drivers influencing the decision to seek genetic testing are relatively unknown in Latin America (LatAm). Here we present results from a regional genetic counseling and testing protocol implemented in LatAm.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Center for Life Ethics, University of Bonn, Bonn, Germany.
Background: Driven by (bio-)medical and technical developments, advanced non-invasive methods for estimating the risk of Alzheimer's dementia (ADD) are increasingly emerging. In the future, such methods could eventually become available for individuals in asymptomatic and preclinical stages of Alzheimer's disease (e.g.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Sathyamoorthy Laboratory, Department of Medicine, Burnett School of Medicine at TCU, Fort Worth, TX 76104, USA.
After reporting the first known clinical case associating compound heterozygous single-nucleotide variants in Exon 2 of to aortic aneurysmal and iliac dissection, we began prospective surveillance in our vascular genetic practice for similar cases. Herein, we present nine (9) subjects from a total cohort of 135 with arterial aneurysms or dissections who revealed single-nucleotide variants in with no other alterations in a panel of 35 genes associated with aneurysmal and dissection disorders. Five out of nine (5/9) single-nucleotide variants were in Exon 1, and four out of nine (4/9) mutations were in Exon 2, both of which are principal coding exons for this gene.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Department of Clinical Genetics, Medical University of Lodz, Pomorska Str. 251, 92-213 Lodz, Poland.
-spectrum disorders are caused by a mutation in the gene. The term includes a wide range of rare disorders, from the most severe Wolfram syndrome with autosomal recessive inheritance to milder clinical manifestations with a single causative variant in the gene, such as Wolfram-like syndrome, low-frequency sensorineural hearing loss (LFSNHL), isolated diabetes mellitus (DM), nonsyndromic optic atrophy (OA), and isolated congenital cataracts. The aim of this study was to evaluate genotype-phenotype correlations in Polish patients with -spectrum disorders.
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