Summaries of plenary, symposia, and oral sessions at the XXII World Congress of Psychiatric Genetics, Copenhagen, Denmark, 12-16 October 2014

The XXII World Congress of Psychiatric Genetics, sponsored by the International Society of Psychiatric Genetics, took place in Copenhagen, Denmark, on 12-16 October 2014. A total of 883 participants gathered to discuss the latest findings in the field. The following report was written by student and postdoctoral attendees. Each was assigned one or more sessions as a rapporteur. This manuscript represents topics covered in most, but not all of the oral presentations during the conference, and contains some of the major notable new findings reported

Recent Trends in Computational Research on Diseases

Recent advances in information technology have brought forth a paradigm shift in science, especially in the biology and medical fields. Statistical methodologies based on high-performance computing and big data analysis are now indispensable for the qualitative and quantitative understanding of experimental results. In fact, the last few decades have witnessed drastic improvements in high-throughput experiments in health science, for example, mass spectrometry, DNA microarray, next generation sequencing, etc. Those methods have been providing massive data involving four major branches of omics (genomics, transcriptomics, proteomics, and metabolomics). Information about amino acid sequences, protein structures, and molecular structures are fundamental data for the prediction of bioactivity of chemical compounds when screening drugs. On the other hand, cell imaging, clinical imaging, and personal healthcare devices are also providing important data concerning the human body and disease. In parallel, various methods of mathematical modelling such as machine learning have developed rapidly. All of these types of data can be utilized in computational approaches to understand disease mechanisms, diagnosis, prognosis, drug discovery, drug repositioning, disease biomarkers, driver mutations, copy number variations, disease pathways, and much more. In this Special Issue, we have published 8 excellent papers dedicated to a variety of computational problems in the biomedical field from the genomic level to the whole-person physiological level

The good, the bad and the unintended: the role of negative self-conscious emotions in marketing

Negative self-conscious (SC) emotions are important to examine in the field of consumer behavior. These emotions have been identified as drivers of social behavior; each day consumers make decisions and form attitudes and thoughts based on the negative self-conscious emotions they experience. Thus, these emotions are a common occurrence in the marketplace, making them particularly relevant to examine in the consumption experience. The purpose of this dissertation is to build a framework to identify how each one of these emotions function in the consumption experience. Specifically, five objectives are addressed: 1) Introduce and identify why negative SC emotions are important in the consumption experience; 2) Differentiate guilt, embarrassment, and shame in the consumption experience; 3) Identify unique antecedents for each emotion; 4) Identify coping strategies for each emotion; and 5) Identify a set of implications for marketing managers, consumer behavior researchers, and consumer welfare advocates. Essay 1 examined all three negative SC emotions (guilt, embarrassment and shame) in consumption experiences. The objectives discussed above were achieved using qualitative data from ten in-depth interviews. Results indicated that each negative SC emotion is present in the consumption experience. In addition, antecedents and coping mechanisms were identified for each emotion. These unique antecedents and consequences allowed the researcher to distinguish the three emotions from each other, as well as identify implications relevant to marketing managers, consumer behavior researchers and consumer welfare advocates. Essay 2 and Essay 3 examined the specific role of consumer guilt in the relationship marketing paradigm. Specifically, Essay 2 considered the antecedents of consumer guilt. This was achieved by data collected from an exploratory study. The results were used to build a conceptual framework, which was then examined empirically using structural equation modeling. Findings revealed that consumer guilt arises from consumer norm violations. Essay 3 sought to indentify the consequences of consumer guilt. This was achieved through analyzing a conceptual model using structural equation modeling. Findings reveal consumer guilt impacts of the outcome variables of affective and normative commitment, word-of-mouth and patronage intentions. Theoretical and managerial implications are offered

Childhood intellectual disability and parents' mental health: integrating social, psychological and genetic influences.

BACKGROUND: Intellectual disability has a complex effect on the well-being of affected individuals and their families. Previous research has identified multiple risk and protective factors for parental mental health, including socioeconomic circumstances and child behaviour. AIMS: This study explored whether genetic cause of childhood intellectual disability contributes to parental well-being. METHOD: Children from across the UK with intellectual disability due to diverse genetic causes were recruited to the IMAGINE-ID study. Primary carers completed the Development and Well-being Assessment, including a measure of parental distress (Everyday Feeling Questionnaire). Genetic diagnoses were broadly categorised into aneuploidy, chromosomal rearrangements, copy number variants (CNVs) and single nucleotide variants. RESULTS: Compared with the UK general population, IMAGINE-ID parents (n = 888) reported significantly elevated emotional distress (Cohen's d = 0.546). Within-sample variation was related to recent life events and the perceived impact of children's difficulties. Impact was predicted by child age, physical disability, autistic characteristics and other behavioural difficulties. Genetic diagnosis also predicted impact, indirectly influencing parental well-being. Specifically, CNVs were associated with higher impact, not explained by CNV inheritance, neighbourhood deprivation or family structure. CONCLUSIONS: The mental health of parents caring for a child with intellectual disability is influenced by child and family factors, converging on parental appraisal of impact. We found that genetic aetiologies, broadly categorised, also influence impact and thereby family risks. Recognition of these risk factors could improve access to support for parents, reduce their long-term mental health needs and improve well-being of individuals with intellectual disability.This work was supported by the UK Medical Research Council (grant number G101400 to K.B.), UK Medical Research Council and Medical Research Foundation (grant number MR-N022572-1 to the IMAGINE-ID study; Principle Investigators: David H. Skuse, F Lucy Raymond, Jeremy Hall, Marianne Van den Bree, Michael J. Hall) and the Baily Thomas Charitable Trust (to K.B.)

An overview of the first 5 years of the ENIGMA obsessive–compulsive disorder working group: The power of worldwide collaboration

Abstract Neuroimaging has played an important part in advancing our understanding of the neurobiology of obsessive?compulsive disorder (OCD). At the same time, neuroimaging studies of OCD have had notable limitations, including reliance on relatively small samples. International collaborative efforts to increase statistical power by combining samples from across sites have been bolstered by the ENIGMA consortium; this provides specific technical expertise for conducting multi-site analyses, as well as access to a collaborative community of neuroimaging scientists. In this article, we outline the background to, development of, and initial findings from ENIGMA's OCD working group, which currently consists of 47 samples from 34 institutes in 15 countries on 5 continents, with a total sample of 2,323 OCD patients and 2,325 healthy controls. Initial work has focused on studies of cortical thickness and subcortical volumes, structural connectivity, and brain lateralization in children, adolescents and adults with OCD, also including the study on the commonalities and distinctions across different neurodevelopment disorders. Additional work is ongoing, employing machine learning techniques. Findings to date have contributed to the development of neurobiological models of OCD, have provided an important model of global scientific collaboration, and have had a number of clinical implications. Importantly, our work has shed new light on questions about whether structural and functional alterations found in OCD reflect neurodevelopmental changes, effects of the disease process, or medication impacts. We conclude with a summary of ongoing work by ENIGMA-OCD, and a consideration of future directions for neuroimaging research on OCD within and beyond ENIGMA

Rare Copy Number Deletions Predict Individual Variation in Intelligence

Phenotypic variation in human intellectual functioning shows substantial heritability, as demonstrated by a long history of behavior genetic studies. Many recent molecular genetic studies have attempted to uncover specific genetic variations responsible for this heritability, but identified effects capture little variance and have proven difficult to replicate. The present study, motivated an interest in “mutation load” emerging from evolutionary perspectives, examined the importance of the number of rare (or infrequent) copy number variations (CNVs), and the total number of base pairs included in such deletions, for psychometric intelligence. Genetic data was collected using the Illumina 1MDuoBeadChip Array from a sample of 202 adult individuals with alcohol dependence, and a subset of these (N = 77) had been administered the Wechsler Abbreviated Scale of Intelligence (WASI). After removing CNV outliers, the impact of rare genetic deletions on psychometric intelligence was investigated in 74 individuals. The total length of the rare deletions significantly and negatively predicted intelligence (r = −.30, p = .01). As prior studies have indicated greater heritability in individuals with relatively higher parental socioeconomic status (SES), we also examined the impact of ethnicity (Anglo/White vs. Other), as a proxy measure of SES; these groups did not differ on any genetic variable. This categorical variable significantly moderated the effect of length of deletions on intelligence, with larger effects being noted in the Anglo/White group. Overall, these results suggest that rare deletions (between 5% and 1% population frequency or less) adversely affect intellectual functioning, and that pleotropic effects might partly account for the association of intelligence with health and mental health status. Significant limitations of this research, including issues of generalizability and CNV measurement, are discussed

Versatile Psychophysiological Potencies of Essential Oils, when Seen as a Function of Behavioral Task Assigned to the Participants after Inhalation

To elucidate the psychophysiological effect of inhaling essential oils, in this paper, we sought to assess the following 12 essential oils: basil, bergamot, cardamom, cinnamon, juniper, lemon, orange, palmarosa, peppermint, sandalwood, spearmint, and ylang ylang. As these being target odors, we focused on the verbal (semantic) and non-verbal (skin temperature) endpoints of the stimuli. In our experimental design, we managed to assign different behavioral tasks to the participants. The Uchida-Kraepelin test was used as a mental arithmetic task and listening to environmental (natural) sounds as an auditory task. In the verbal study, for an example, we conducted the sensory test twice, once before and once after the task. As a measure of the perceived odor quality in participants after inhalation of a given aroma, we employed a sensory evaluation spectrum. It is a bar graph in which the mean of the difference in score between pre- and post-task inquiry (post minus pre) was plotted against the impression descriptors. Taking into account of the obtained skin temperature changes between pre- and post-task inhalations, the subtle nuances between verbal and non-verbal expressions seen as a function of the two behavioral tasks assigned to the participant suggested that essential oils may have versatile psychophysiological potencies by the nature

Contingent Negative Variation: Sensitivity to Directed Attention

The exact nature of the contingent negative variation (CNV) event-related potential (ERP) remains unclear after decades of research. Although this ERP has long been associated with anticipation of motor responses, it remains present in the absence of physical action. Attention and arousal may better account for production of this ERP. In the current study, we examined the role directed attention may play in CNV production, while controlling for the expectancy of stimulus presentation based on the mean probability of stimulus duration. We hypothesized that if direction of attention, rather than probability of stimulus presentation, had the most pronounced effect, differences in slope and mean amplitude during different measurement windows would be seen, based on the length of different auditory stimuli. CNV slope was found to differ as a function of attention allocation. The potential role attention plays on CNV production as it relates to complex, time-based decisional-making processes is discussed