The impact of abuse and learning difficulties on emotion understanding in late childhood and early adolescence.

Children's affective experiences and cognitive abilities have an impact on emotion understanding. However, their relative contribution, as well as the possibility of an interaction between them, has rarely been examined. The aim of the present study was to evaluate the influence of severe abuse and learning difficulties on simple and complex components of emotion understanding in late childhood and early adolescence. A total of 28 older children and young adolescents were selected for the study. Half of the participants had suffered from severe abuse, and half of these abused children additionally had learning disabilities. The remaining half of the sample had no history of abuse but were matched with the abused children on learning difficulties, age and gender. The participants' emotion understanding was assessed with the Test of Emotion Comprehension (TEC). Results showed that (a) learning difficulties but not abuse had an impact on emotion understanding, (b) there was no interaction effect of abuse and learning difficulties on emotion understanding, and (b) the observed effects of learning difficulties were most apparent for the understanding of relatively complex components of emotion and not for simple components. The results are discussed in terms of their theoretical and practical implications.

Genetic analysis of putative familial relationships in a captive chimpanzee (Pan troglodytes) population.

Twelve autosomal dinucleotide repeat loci were analyzed in chimpanzees genomes by DNA amplification using primers designed for analysis of human loci. The markers span the entire length of human chromosomes 21 and 22. Nine markers were polymorphic in chimpanzee as well, with a somewhat comparable level of polymorphism and allele size range. Even in the presence of very limited information and in spite of missing samples, it was possible to reconstruct a complex pedigree and to provide molecular data that corroborate family relationships that were deduced from cage history and behavioral data. The conclusions were further supported by mitochondrial DNA analysis. The data presented in this report show that the extremely abundant source of human markers may be exploited to validate, with molecular evidence, hypotheses on individual relationship or alleged pedigrees, based upon behavioral observations.

The Efficacy of Head-Mounted-Display Virtual Reality Intervention to Improve Life Skills of Individuals with Autism Spectrum Disorders: A Systematic Review.

Challenges in life skills in individuals with autism spectrum disorders (ASD) are associated with dependency on others and increased isolation from peers. In recent years, interventions using virtual reality (VR) technology have been proposed to improve life skills in ASD populations. This systematic review seeks to evaluate the efficacy of employing VR interventions mediated via head-mounted displays (HMD) for the improvement of life skills in individuals with ASD. Several databases were searched and a narrative synthesis was conducted to examine the findings of the included studies. Eight studies including a total of 58 participants were deemed relevant for this systematic review. The methodological quality of the included studies was assessed via the use of critical appraisal tools. Results were generally positive, with one study reporting statistically significant results, and one study not reporting any change in abilities. The remaining six studies reported varying degrees of life skill improvement. The studies were characterized by methodological issues, such as very low sample sizes. The findings of this systematic review indicate some potential for HMD VR interventions in the improvement of life skills in individuals with ASD. However, this review also highlights the current lack of methodologically strong study designs, which prohibits any firm conclusions. Findings are discussed regarding methodological recommendations for further research as well as practical implications for life skills interventions for individuals with ASD.

High-resolution analysis of DNA copy number alterations in patients with primary open-angle glaucoma.

PURPOSE: To determine whether patients with isolated primary open-angle glaucoma (POAG) have evidence of chromosomal copy number alterations. METHODS: Twenty-seven Caucasian and African-American POAG patients and 12 ethnically matched controls were carefully screened for possible glaucoma and tested for chromosomal copy number alterations using high resolution array comparative genomic hybridization. RESULTS: No POAG patient had evidence of chromosomal copy number alterations when compared to normal ethnically matched controls. Additionally, there was no evidence of somatic mosaicism in any tested POAG patient. CONCLUSIONS: Chromosomal deletions and/or duplications were not detected in POAG patients as compared to controls. Other chromosomal imbalances such as translocations, inversions, and some ploidies cannot be detected by current array comparative genomic hybridization technology, and other nuclear genetic, mitochondrial abnormalities, or epigenetic factors cannot be excluded as a possible contributing factor to POAG pathogenesis.

Head of the Bed Down: Paradoxical Management for Paradoxical Herniation.

Emergency physicians are well versed in cerebral herniation, pathology that typically results from increased intracranial pressure; however, paradoxical herniation is less common and requires opposing treatments. We describe a case of paradoxical herniation following lumbar puncture in a patient with previous hemicraniectomy. The symptomatology was similar to cerebral herniation from intracranial hypertension and included lethargy, bradycardia, headache, and compression of brain structures on non-contrast head computed tomography. However, contrary to treatment modalities for intracranial hypertension, our management strategy aimed to reverse intracerebral hypotension. Treatment for paradoxical herniation involved increasing intracranial pressure using fluid resuscitation and Trendelenburg positioning. In the intensive care unit our patient received an epidural blood patch and hydration with resolution of his symptoms.

Beer advertisements and adolescent drinking knowledge, expectancies, and behavior.

OBJECTIVE: (1) To examine the degree to which overall beer advertising expenditure is related to youth brand awareness, preferences, and drinking behavior, and (2) to use multiple methods, including individual brand awareness and expectancies, to gain a broader understanding of the effects of alcohol advertising on youth alcohol-related expectancies and behavior. METHOD: Mixed psychological and advertising methods were used to examine how beer advertising is related to adolescents' beer brand awareness, expectancies, and behavior. 1588 7-12th graders were surveyed in two U.S. states. RESULTS: The amount of money spent advertising beer brands was positively correlated with adolescents' brand awareness, preference, use, and loyalty behavior (all correlations above 0.65). Moreover, beer advertising-related variables predicted adolescents' intention to drink and actual alcohol consumption, independent of peer and parent alcohol-related behavior and attitudes. CONCLUSIONS: The results show that overall levels of advertising expenditures were strong predictors of adolescents' beer brand awareness, preferences, use, and brand loyalty. Moreover, advertising-related variables were substantial predictors of adolescents' intention to drink as an adult and current underage drinking behavior. Together, the present findings suggest that previous work may have underestimated the relationship between alcohol advertising and adolescents' drinking behavior.

Cell autonomous expression of inflammatory genes in biologically aged fibroblasts associated with elevated NF-kappaB activity.

BACKGROUND: Chronic inflammation is a well-known corollary of the aging process and is believed to significantly contribute to morbidity and mortality of many age-associated chronic diseases. However, the mechanisms that cause age-associated inflammatory changes are not well understood. Particularly, the contribution of cell stress responses to age-associated inflammation in 'non-inflammatory' cells remains poorly defined. The present cross-sectional study focused on differences in molecular signatures indicative of inflammatory states associated with biological aging of human fibroblasts from donors aged 22 to 92 years. RESULTS: Gene expression profiling revealed elevated steady-state transcript levels consistent with a chronic inflammatory state in fibroblast cell-strains obtained from older donors. We also observed enhanced NF-kappaB DNA binding activity in a subset of strains, and the NF-kappaB profile correlated with mRNA expression levels characteristic of inflammatory processes, which include transcripts coding for cytokines, chemokines, components of the complement cascade and MHC molecules. This intrinsic low-grade inflammatory state, as it relates to aging, occurs in cultured cells irrespective of the presence of other cell types or the in vivo context. CONCLUSION: Our results are consistent with the view that constitutive activation of inflammatory pathways is a phenomenon prevalent in aged fibroblasts. It is possibly part of a cellular survival process in response to compromised mitochondrial function. Importantly, the inflammatory gene expression signature described here is cell autonomous, i.e. occurs in the absence of prototypical immune or pro-inflammatory cells, growth factors, or other inflammatory mediators.

The effects of violent media content on aggression.

Decades of research have shown that violent media exposure is one risk factor for aggression. This review presents findings from recent cross-sectional, experimental, and longitudinal studies, demonstrating the triangulation of evidence within the field. Importantly, this review also illustrates how media violence research has started to move away from merely establishing the existence of media effects and instead has begun to investigate the mechanisms underlying these effects and their limitations. Such studies range from investigations into cross-cultural differences to neurophysiological effects, and the interplay between media, individual, and contextual factors. Although violent media effects have been well-established for some time, they are not monolithic, and recent findings continue to shed light on the nuances and complexities of such effects.

Cis sequence effects on gene expression.

BACKGROUND: Sequence and transcriptional variability within and between individuals are typically studied independently. The joint analysis of sequence and gene expression variation (genetical genomics) provides insight into the role of linked sequence variation in the regulation of gene expression. We investigated the role of sequence variation in cis on gene expression (cis sequence effects) in a group of genes commonly studied in cancer research in lymphoblastoid cell lines. We estimated the proportion of genes exhibiting cis sequence effects and the proportion of gene expression variation explained by cis sequence effects using three different analytical approaches, and compared our results to the literature. RESULTS: We generated gene expression profiling data at N = 697 candidate genes from N = 30 lymphoblastoid cell lines for this study and used available candidate gene resequencing data at N = 552 candidate genes to identify N = 30 candidate genes with sufficient variance in both datasets for the investigation of cis sequence effects. We used two additive models and the haplotype phylogeny scanning approach of Templeton (Tree Scanning) to evaluate association between individual SNPs, all SNPs at a gene, and diplotypes, with log-transformed gene expression. SNPs and diplotypes at eight candidate genes exhibited statistically significant (p < 0.05) association with gene expression. Using the literature as a "gold standard" to compare 14 genes with data from both this study and the literature, we observed 80% and 85% concordance for genes exhibiting and not exhibiting significant cis sequence effects in our study, respectively. CONCLUSION: Based on analysis of our results and the extant literature, one in four genes exhibits significant cis sequence effects, and for these genes, about 30% of gene expression variation is accounted for by cis sequence variation. Despite diverse experimental approaches, the presence or absence of significant cis sequence effects is largely supported by previously published studies.

Drawing the line between constituent structure and coherence relations in visual narratives.

Theories of visual narrative understanding have often focused on the changes in meaning across a sequence, like shifts in characters, spatial location, and causation, as cues for breaks in the structure of a discourse. In contrast, the theory of visual narrative grammar posits that hierarchic "grammatical" structures operate at the discourse level using categorical roles for images, which may or may not co-occur with shifts in coherence. We therefore examined the relationship between narrative structure and coherence shifts in the segmentation of visual narrative sequences using a "segmentation task" where participants drew lines between images in order to divide them into subepisodes. We used regressions to analyze the influence of the expected constituent structure boundary, narrative categories, and semantic coherence relationships on the segmentation of visual narrative sequences. Narrative categories were a stronger predictor of segmentation than linear coherence relationships between panels, though both influenced participants' divisions. Altogether, these results support the theory that meaningful sequential images use a narrative grammar that extends above and beyond linear semantic shifts between discourse units. (PsycINFO Database Record

TaqMan genotyping of insertion/deletion polymorphisms.

The 5' fluorogenic (TaqMan) assay has been successfully used in screening for single-nucleotide polymorphisms; the very few steps required and the ability to automate each step allow for high-throughput screening. Insertion/deletion polymorphisms are an important class of markers that can be studied for different applications, such as diagnostics, genome variation, and species identification. Polymerase chain reaction (PCR) and post-PCR analysis are required to score the insertion or the deletion allele. In this chapter, we describe an expansion of the TaqMan technology for a rapid, high-throughput, screening for insertion/deletion polymorphisms in which the exact endpoints are known. The method requires minimal post-PCR analysis and can be applied to polymorphisms of any size.

Emotion Understanding in Clinically Anxious Children: A Preliminary Investigation.

Children's understanding of the nature, origins and consequences of emotions has been intensively investigated over the last 30-40 years. However, few empirical studies have looked at the relation between emotion understanding and anxiety in children and their results are mixed. The aim of the present study was to perform a preliminary investigation of the relationships between emotion understanding, anxiety, emotion dysregulation, and attachment security in clinically anxious children. A sample of 16 clinically anxious children (age 8-12, eight girls/boys) was assessed for emotion understanding (Test of Emotion Comprehension), anxiety (Screening for Child Anxiety Related Emotional Disorders-Revised and Anxiety Disorder Interview Schedule), emotion dysregulation (Difficulties in Emotion Regulation Scale) and attachment security (Security Scale). Children who reported more overall anxiety also reported greater difficulties in regulating their emotions, and were less securely attached to their parents. The results also showed that more specific symptoms of anxiety (i.e., OCD and PTSD) correlated not only with emotion dysregulation and attachment insecurity but also with emotion understanding. Finally, there were interrelations among emotion understanding, attachment security, and emotion dysregulation. The present results provide the first comprehensive evidence for a socio-emotional framework and its relevance to childhood anxiety.

The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses.

BACKGROUND: There is an urgent need for expanding and enhancing autism spectrum disorder (ASD) samples, in order to better understand causes of ASD. METHODS: In a unique public-private partnership, 13 sites with extensive experience in both the assessment and diagnosis of ASD embarked on an ambitious, 2-year program to collect samples for genetic and phenotypic research and begin analyses on these samples. The program was called The Autism Simplex Collection (TASC). TASC sample collection began in 2008 and was completed in 2010, and included nine sites from North America and four sites from Western Europe, as well as a centralized Data Coordinating Center. RESULTS: Over 1,700 trios are part of this collection, with DNA from transformed cells now available through the National Institute of Mental Health (NIMH). Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule-Generic (ADOS-G) measures are available for all probands, as are standardized IQ measures, Vineland Adaptive Behavioral Scales (VABS), the Social Responsiveness Scale (SRS), Peabody Picture Vocabulary Test (PPVT), and physical measures (height, weight, and head circumference). At almost every site, additional phenotypic measures were collected, including the Broad Autism Phenotype Questionnaire (BAPQ) and Repetitive Behavior Scale-Revised (RBS-R), as well as the non-word repetition scale, Communication Checklist (Children's or Adult), and Aberrant Behavior Checklist (ABC). Moreover, for nearly 1,000 trios, the Autism Genome Project Consortium (AGP) has carried out Illumina 1 M SNP genotyping and called copy number variation (CNV) in the samples, with data being made available through the National Institutes of Health (NIH). Whole exome sequencing (WES) has been carried out in over 500 probands, together with ancestry matched controls, and this data is also available through the NIH. Additional WES is being carried out by the Autism Sequencing Consortium (ASC), where the focus is on sequencing complete trios. ASC sequencing for the first 1,000 samples (all from whole-blood DNA) is complete and data will be released in 2014. Data is being made available through NIH databases (database of Genotypes and Phenotypes (dbGaP) and National Database for Autism Research (NDAR)) with DNA released in Dist 11.0. Primary funding for the collection, genotyping, sequencing and distribution of TASC samples was provided by Autism Speaks and the NIH, including the National Institute of Mental Health (NIMH) and the National Human Genetics Research Institute (NHGRI). CONCLUSIONS: TASC represents an important sample set that leverages expert sites. Similar approaches, leveraging expert sites and ongoing studies, represent an important path towards further enhancing available ASD samples.

A structural assessment of the 30-item Metacognitions Questionnaire for Children and its relations to anxiety symptoms.

Theoretical models of anxiety have been developed in adult populations. The applicability of these models in child samples has been assessed using downward extensions of the questionnaires developed to assess the proposed theoretical mechanisms. This poses a challenge, as children are still in the process of developing the skills that are being assessed. Psychometrically sound assessment tools are therefore needed for this developing population, in order to ensure the early detection of mechanisms leading to anxiety disorders in children. This study examined if metacognitions, which play a key role in generalized anxiety disorder (GAD) in adults, can also be reliably assessed in childhood. The study investigated the psychometric properties of the 30-item Metacognitions Questionnaire for Children (MCQ-C30; Gerlach, Adam, Marschke, & Melfsen, 2008) in a national sample of 974 children and adolescents (538 girls) ages 9-17 years. Confirmatory factor analysis supported the 5-factor subscale structure and a 2nd-order total scale factor, which corresponds with previous versions of the scale. MCQ-C30 expectedly correlated significantly with anxiety symptoms and worry. Structural equation modeling revealed that both obsessive-compulsive disorder and generalized anxiety disorder symptoms regressed significantly onto the MCQ-C30. We fitted separate models for children and adolescents, and no noticeable differences are suggested between the models. Female gender was, expectedly, associated with increased levels of general metacognitions. This gender effect was mediated by level of anxiety. Overall, the MCQ-C30 exhibited acceptable psychometric properties in our community sample of children ages 9-17 years. Future studies should investigate the psychometric properties of the instrument in clinical samples and samples of younger children.

A simple and cost-effective method for rapid genotyping of insertion/deletion polymorphisms.

We developed a simple method, based on the TaqMan technology, for fast genotyping of insertion/deletion polymorphisms of known location. The genotypes of 22 CEPH individuals, previously ascertained by conventional methods, were confirmed in the new assay without manual, time-consuming, post-PCR analysis. We propose to expand the application of TaqMan probes for population screening of insertion/deletion polymorphisms in which the exact endpoints of the insertion/deletion are known. The method can be applied to polymorphisms of any size and can be used for different applications such as diagnostics, genome variation, and species identification.

The immunoglobulin lambda variable light-chain region in primates has been shaped by multiple, independent, small-scale and large-scale insertion/deletion events.

We analyzed genomes of nonhuman primates to determine the ancestral state of a 9.1-kb insertion/deletion polymorphism, located on human chromosome 22. The 9.1-kb+ allele was found in 16 chimpanzees, 3 bonobos, and 2 Bornean orangutans; however, 9 chimpanzees and 6 Sumatran orangutans showed neither the 9.1-kb+ nor the 9.1-kb- allele, but a novel allele, termed 9.1-kbnull. A clone from a chimpanzee BAC library carrying the 9.1-kbnull allele was sequenced: the BAC DNA aligns with the human chromosome 22 reference sequence except for a 75-kb region, suggesting that the 9.1-kbnull allele originated from a deletion. Furthermore, the 9.1-kb+ chromosomes of chimpanzees and bonobos contain a 1030-nucleotide sequence, absent in humans, that may result from a retro-transposition insertion in their common ancestor. Our results provide additional evidence that human chromosome 22 has undergone multiple small-scale and large-scale insertions and deletions since sharing a common ancestor with other primates.