Association study of the trinucleotide repeat polymorphism within SMARCA2 and schizophrenia

BACKGROUND: Brahma (BRM) is a key component of the multisubunit SWI/SNF complex, a complex which uses the energy of ATP hydrolysis to remodel chromatin. BRM contains an N-terminal polyglutamine domain, encoded by a polymorphic trinucleotide (CAA/CAG) repeat, the only known polymorphism in the coding region of the gene (SMARCA2). We have examined the association of this polymorphism with schizophrenia in a family-based and case/control study. SMARCA2 was chosen as a candidate gene because of its specific role in developmental pathways, its high expression level in the brain and some evidence of its association with schizophrenia spectrum disorder from genome-wide linkage analysis. RESULTS: Family-based analysis with 281 complete and incomplete triads showed that there is no significant preferential transmission of any of the alleles to the affected offspring. Also, in the case/control analysis, similar allele and genotype distributions were observed between affected cases (n = 289) and unaffected controls (n = 273) in each of three Caucasian populations studied: French Canadian, Tunisian and other Caucasians of European origin. CONCLUSION: Results from our family-based and case-control association study suggest that there is no association between the trinucleotide repeat polymorphism within SMARCA2 and schizophrenia

The Self-Assessment Scale of Cognitive Complaints in Schizophrenia: A validation study in Tunisian population

<p>Abstract</p> <p>Background</p> <p>Despite a huge well-documented literature on cognitive deficits in schizophrenia, little is known about the own perception of patients regarding their cognitive functioning. The purpose of our study was to create a scale to collect subjective cognitive complaints of patients suffering from schizophrenia with Tunisian Arabic dialect as mother tongue and to proceed to a validation study of this scale.</p> <p>Methods</p> <p>The authors constructed the Self-Assessment Scale of Cognitive Complaints in Schizophrenia (SASCCS) based on a questionnaire covering five cognitive domains which are the most frequently reported in the literature to be impaired in schizophrenia. The scale consisted of 21 likert-type questions dealing with memory, attention, executive functions, language and praxia. In a second time, the authors proceeded to the study of psychometric qualities of the scale among 105 patients suffering from schizophrenia spectrum disorders (based on DSM- IV criteria). Patients were evaluated using the Positive and Negative Syndrome Scale (PANSS), the Global Assessment Functioning Scale (GAF scale) and the Calgary Depression Scale (CDS).</p> <p>Results</p> <p>The scale's reliability was proven to be good through Cronbach alpha coefficient equal to 0.85 and showing its good internal consistency. The intra-class correlation coefficient at 11 weeks was equal to 0.77 suggesting a good stability over time. Principal component analysis with Oblimin rotation was performed and yielded to six factors accounting for 58.28% of the total variance of the scale.</p> <p>Conclusion</p> <p>Given the good psychometric properties that have been revealed in this study, the SASCCS seems to be reliable to measure schizophrenic patients' perception of their own cognitive impairment. This kind of evaluation can't substitute for objective measures of cognitive performances in schizophrenia. The purpose of such an evaluation is to permit to the patient to express his own well-being and satisfaction of quality of life.</p

Generalizing Duchenne to Sad Expressions with Binocular Rivalry and Perception Ratings

© 2018 American Psychological Association. Discrete emotion theories emphasize the modularity of facial expressions, while functionalist theories suggest that a single facial action may have a common meaning across expressions. Smiles involving the Duchenne marker, eye constriction causing crow\u27s feet, are perceived as intensely positive and sincere. To test whether the Duchenne marker is a general index of intensity and sincerity, we contrasted positive and negative expressions with and without the Duchenne marker in a binocular rivalry paradigm. Both smiles and sad expressions involving the Duchenne marker were perceived longer than non-Duchenne expressions, and participants rated all Duchenne expressions as more affectively intense and more sincere than their non-Duchenne counterparts. Correlations between perceptual dominance and ratings suggested that the Duchenne marker increased the dominance of smiles and sad expressions by increasing their perceived affective intensity. The results provide evidence in favor of Darwin\u27s hypothesis that specific facial actions have a general function (conveying affect intensification and sincerity) across expressions