Mindfulness meditators show altered distributions of early and late neural activity markers of attention in a response inhibition task

Attention is vital for optimal behavioural performance in every-day life. Mindfulness meditation has been shown to enhance attention. However, the components of attention altered by meditation and the related neural activities are underexplored. In particular, the contributions of inhibitory processes and sustained attention are not well understood. To address these points, 34 meditators were compared to 28 age and gender matched controls during electroencephalography (EEG) recordings of neural activity during a Go/Nogo response inhibition task. This task generates a P3 event related potential, which is related to response inhibition processes in Nogo trials, and attention processes across both trial types. Compared with controls, meditators were more accurate at responding to Go and Nogo trials. Meditators showed a more frontally distributed P3 to both Go and Nogo trials, suggesting more frontal involvement in sustained attention rather than activity specific to response inhibition. Unexpectedly, meditators also showed increased positivity over the right parietal cortex prior to visual information reaching the occipital cortex (during the pre-C1 window). Both results were positively related to increased accuracy across both groups. The results suggest that meditators show altered engagement of neural regions related to attention, including both higher order processes generated by frontal regions, and sensory anticipation processes generated by poster regions. This activity may reflect an increased capacity to modulate a range of neural processes in order to meet task requirements. This increased capacity may underlie the improved attentional function observed in mindfulness meditators.Neil W. Bailey, Gabrielle Freedman, Kavya Raj, Caley M. Sullivan, Nigel C. Rogasch, Sung W. Chung, Kate E. Hoy, Richard Chambers, Craig Hassed, Nicholas T. Van Dam, Thomas Koenig, Paul B. Fitzgeral

Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder

<p>Abstract</p> <p>Background</p> <p>Obsessive-compulsive disorder (OCD) is a clinically and etiologically heterogeneous syndrome. The high frequency of obsessive-compulsive symptoms reported in subjects with the 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome) or Prader-Willi syndrome (15q11-13 deletion of the paternally derived chromosome), suggests that gene dosage effects in these chromosomal regions could increase risk for OCD. Therefore, the aim of this study was to search for microrearrangements in these two regions in OCD patients.</p> <p>Methods</p> <p>We screened the 15q11-13 and 22q11.2 chromosomal regions for genomic imbalances in 236 patients with OCD using multiplex ligation-dependent probe amplification (MLPA).</p> <p>Results</p> <p>No deletions or duplications involving 15q11-13 or 22q11.2 were identified in our patients.</p> <p>Conclusions</p> <p>Our results suggest that deletions/duplications of chromosomes 15q11-13 and 22q11.2 are rare in OCD. Despite the negative findings in these two regions, the search for copy number variants in OCD using genome-wide array-based methods is a highly promising approach to identify genes of etiologic importance in the development of OCD.</p

Psychological quality of life and its association with academic employability skills among newly-registered students from three European faculties

In accord with new European university reforms initiated by the Bologna Process, our objectives were to assess psychological quality of life (QoL) and to analyse its associations with academic employability skills (AES) among students from the Faculty of Language, Literature, Humanities, Arts and Education, Walferdange Luxembourg (F1, mostly vocational/applied courses); the Faculty of Social and Human Sciences, Liege, Belgium (F2, mainly general courses); and the Faculty of Social Work, Iasi, Romania (F3, mainly vocational/professional courses). Method: Students who redoubled or who had studied at other universities were excluded. 355 newly-registered first-year students (145 from F1, 125 from F2, and 85 from F3) were invited to complete an online questionnaire (in French, German, English or Romanian) covering socioeconomic data, the AES scale and the QoL-psychological, QoL-social relationships and QoL-environment subscales as measured with the World Health Organisation Quality of Life short-form (WHOQoL-BREF) questionnaire. Analyses included multiple regressions with interactions. Results: QoL-psychological, QoL-social relationships and QoL-environment’ scores were highest in F1 (Luxembourg), and the QoL-psychological score in F2 (Belgium) was the lower. AES score was higher in F1 than in F3 (Romania). A positive link was found between QoL-psychological and AES for F1 (correlation coefficient 0.29, p < 0.01) and F3 (correlation coefficient 0.30, p < 0.05), but the association was negative for F2 (correlation coefficient -0.25, p < 0.01). QoL-psychological correlated positively with QoL-social relationships (regression coefficient 0.31, p < 0.001) and QoL-environment (regression coefficient 0.35, p < 0.001). Conclusions: Psychological quality of life is associated with acquisition of skills that increase employability from the faculties offering vocational/applied/professional courses in Luxembourg and Romania, but not their academically orientated Belgian counterparts. In the context of developing a European Higher Educational Area, these measurements are major indicators that can be used as a guide to promoting programs geared towards counseling, improvement of the social environment, and services to assist with university work and facilitate achievement of future professional projects. Keywords: students WHOQoL-BREF, QoL-psychological, employability, academic skills, QoL-environmental, QoLsocial relationship

Association Testing Of Copy Number Variants in Schizophrenia and Autism Spectrum Disorders

Background: Autism spectrum disorders and schizophrenia have been associated with an overlapping set of copynumber variant loci, but the nature and degree of overlap in copy number variants (deletions compared toduplications) between these two disorders remains unclear.Methods: We systematically evaluated three lines of evidence: (1) the statistical bases for associations of autismspectrum disorders and schizophrenia with a set of the primary CNVs thus far investigated, from previous studies;(2) data from case series studies on the occurrence of these CNVs in autism spectrum disorders, especially amongchildren, and (3) data on the extent to which the CNVs were associated with intellectual disability anddevelopmental, speech, or language delays. We also conducted new analyses of existing data on these CNVs inautism by pooling data from seven case control studies.Results: Four of the CNVs considered, dup 1q21.1, dup 15q11-q13, del 16p11.2, and dup 22q11.21, showed clearstatistical evidence as autism risk factors, whereas eight CNVs, del 1q21.1, del 3q29, del 15q11.2, del 15q13.3, dup16p11.2, dup 16p13.1, del 17p12, and del 22q11.21, were strongly statistically supported as risk factors forschizophrenia. Three of the CNVs, dup 1q21.1, dup 16p11.2, and dup 16p13.1, exhibited statistical support as riskfactors for both autism and schizophrenia, although for each of these CNVs statistical significance was nominal fortests involving one of the two disorders. For the CNVs that were statistically associated with schizophrenia but werenot statistically associated with autism, a notable number of children with the CNVs have been diagnosed withautism or ASD; children with these CNVs also demonstrate a high incidence of intellectual disability anddevelopmental, speech, or language delays.Conclusions: These findings suggest that although CNV loci notably overlap between autism and schizophrenia,the degree of strongly statistically supported overlap in specific CNVs at these loci remains limited. These analysesalso suggest that relatively severe premorbidity to CNV-associated schizophrenia in children may sometimes bediagnosed as autism spectrum disorder

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.

Adams-Oliver syndrome (AOS) is a rare developmental disorder characterized by the presence of aplasia cutis congenita (ACC) of the scalp vertex and terminal limb-reduction defects. Cardiovascular anomalies are also frequently observed. Mutations in five genes have been identified as a cause for AOS prior to this report. Mutations in EOGT and DOCK6 cause autosomal-recessive AOS, whereas mutations in ARHGAP31, RBPJ, and NOTCH1 lead to autosomal-dominant AOS. Because RBPJ, NOTCH1, and EOGT are involved in NOTCH signaling, we hypothesized that mutations in other genes involved in this pathway might also be implicated in AOS pathogenesis. Using a candidate-gene-based approach, we prioritized DLL4, a critical NOTCH ligand, due to its essential role in vascular development in the context of cardiovascular features in AOS-affected individuals. Targeted resequencing of the DLL4 gene with a custom enrichment panel in 89 independent families resulted in the identification of seven mutations. A defect in DLL4 was also detected in two families via whole-exome or genome sequencing. In total, nine heterozygous mutations in DLL4 were identified, including two nonsense and seven missense variants, the latter encompassing four mutations that replace or create cysteine residues, which are most likely critical for maintaining structural integrity of the protein. Affected individuals with DLL4 mutations present with variable clinical expression with no emerging genotype-phenotype correlations. Our findings demonstrate that DLL4 mutations are an additional cause of autosomal-dominant AOS or isolated ACC and provide further evidence for a key role of NOTCH signaling in the etiology of this disorder