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Family coaggregation of attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), bipolar disorder (BD), major depressive disorder (MDD) and schizophrenia have been presented in previous studies. The shared genetic and environmental factors among psychiatric disorders remain elusive.
This nationwide population-based study examined familial coaggregation of major psychiatric disorders in first-degree relatives (FDRs) of individuals with ASD. Taiwan's National Health Insurance Research Database was used to identify 26 667 individuals with ASD and 67 998 FDRs of individuals with ASD. The cohort was matched in 1:4 ratio to 271 992 controls. The relative risks (RRs) and 95% confidence intervals (CI) of ADHD, ASD, BD, MDD and schizophrenia were assessed among FDRs of individuals with ASD and ASD with intellectual disability (ASD-ID).
FDRs of individuals with ASD have higher RRs of major psychiatric disorders compared with controls: ASD 17.46 (CI 15.50–19.67), ADHD 3.94 (CI 3.72–4.17), schizophrenia 3.05 (CI 2.74–3.40), BD 2.22 (CI 1.98–2.48) and MDD 1.88 (CI 1.76–2.00). Higher RRs of schizophrenia (4.47, CI 3.95–5.06) and ASD (18.54, CI 16.18–21.23) were observed in FDRs of individuals with both ASD-ID, compared with ASD only.
The risk for major psychiatric disorders was consistently elevated across all types of FDRs of individuals with ASD. FDRs of individuals with ASD-ID are at further higher risk for ASD and schizophrenia. Our results provide leads for future investigation of shared etiologic pathways of ASD, ID and major psychiatric disorders and highlight the importance of mental health care delivered to at-risk families for early diagnoses and interventions.
Identifying the mechanisms linking early experiences, genetic risk factors, and their interaction with later health consequences is central to the development of preventive interventions and identifying potential boundary conditions for their efficacy. In the current investigation of 412 African American adolescents followed across a 20-year period, we examined change in body mass index (BMI) across adolescence as one possible mechanism linking childhood adversity and adult health. We found associations of childhood adversity with objective indicators of young adult health, including a cardiometabolic risk index, a methylomic aging index, and a count of chronic health conditions. Childhood adversities were associated with objective indicators indirectly through their association with gains in BMI across adolescence and early adulthood. We also found evidence of an association of genetic risk with weight gain across adolescence and young adult health, as well as genetic moderation of childhood adversity's effect on gains in BMI, resulting in moderated mediation. These patterns indicated that genetic risk moderated the indirect pathways from childhood adversity to young adult health outcomes and childhood adversity moderated the indirect pathways from genetic risk to young adult health outcomes through effects on weight gain during adolescence and early adulthood.
Although repetitive Transcranial Magnetic Stimulation (rTMS) is frequently used to examine emotional changes in healthy volunteers, it remains largely unknown how rTMS is able to influence emotion.
Objectives, aims & methods
In this sham-controlled single-blind crossover study using fMRI, we examined in 20 right-handed healthy female volunteers whether a single high frequency (HF)-rTMS session applied to the left dorsolateral prefrontal cortex (DLPFC) could influence emotional processing while focussing on blocks of positively and negatively valenced baby faces. The task instruction was to focus on one's own emotional status elicited by the visual stimuli.
A single HF-rTMS session selectively influenced the processing of positively and negatively valenced baby faces. When positive information was being processed, one active left-sided HF-rTMS session resulted in enhanced neuronal activity in the left superior frontal cortex (Brodmann area 10) and right inferior parietal cortex (Brodmann area 39). When negative information was processed, one active stimulation session attenuated neuronal activity in the right insula, while sham stimulation did not.
These observations suggest that after one active HF-rTMS session, psychophysiological reactions while processing withdrawal-related stimuli decrease. The increased neuronal activity while processing of positively valenced baby faces might reflect enhanced task-related processing caused by the neuronal activation of the left DLPFC, which could indicate that females are more able to empathize with the depicted happy baby faces. Our results add further evidence as to why HF-rTMS applied to the left DLPFC might improve mood in depressive populations.
The concept of Theory of Mind (ToM) refers to the ability to predict and explain feelings, thoughts, ideas and intentions of self and others. Patients with autism spectrum disorders (ASD) show a deficient development of ToM. Executive Functioning (EF) is described as higher cognitive processes essential for goal directed behaviour. EF plays a role not only in cognitive deficits in patients with ASD, but also in the restraints in social communication.. The prefrontal cortex is involved in ToM as well as in EF. Few studies have investigated the relationship between ToM and EF in adult patients with ASS.
In this pilot study the correlation between ToM and EF in 19 patients with ASS was assessed. ToM was assessed with an extensive TOM test (Steerneman et al., 2003) that measures not only false believes but also higher levels of ToM. EF was measured with the Wisconsin Card Sorting Test (WCST), the Tower of London (ToL) and the Stroop Colour-Word task (Stroop). Correlations were calculated with Kendall's tau-b.
The results show that ASD patients have a lower score on the TOM test than the norm scores, which was expected. De mean scores on the ToL and the Stroop are lower than the means in normal populations. The WCST scores do not differ from norm scores. A significant correlation between TOM scores and EF is not found.
These results do not corroborate other published studies. The potential bias in this pilot study and a design for a more adequate approach will be presented
Previously the GABA(A) receptor beta-2 subunit gene GABRB2 was found to be associated with schizophrenia (SCZ). for SNPs and haplotypes in GRBRB2, the associations with bipolar disorder (BPD), the functional consequences on GABRB2 expression and their relationship to demographic and clinical characteristics in BPD and SCZ remain to be elucidated.
Case-control analysis was performed for association study of GABRB2 with BPD, and its mRNA expression in postmortem BPD brains was examined using quantitative real-time PCR. Quantitative trait analysis was subsequently employed to assess the covariate effects of demographic and clinical characteristics on genotypic correlation of GABRB2 expression in SCZ and BPD.
Significant association of GABRB2 with BPD and reduction in GABRB2 mRNA expression in BPD brains were observed in the present study. Duration of illness (DOI) was found to be a significant covariate for the correlation of the disease-associated SNPs rs1816071, rs1816072 and rs187269 with GABRB2 expression in both SCZ and BPD. for individuals with homozygous major genotypes of these SNPs, while GABRB2 expression increased with age in the controls, it decreased with DOI and age in SCZ, and with DOI in BPD. with age of onset as covariate, these three SNPs were significantly correlated with antipsychotic dosage in SCZ.
These results have thus revealed correlations of GABRB2 SNPs and expression not only with the occurrence of SCZ and BPD, but also with the clinical characteristics of patients, therefore providing support for a shared etiological role played by the gene in both diseases.
Research exploring the longitudinal course of posttraumatic stress disorder (PTSD) symptoms has documented four modal trajectories (low, remitting, high, and delayed), with proportions varying across studies. Heterogeneity could be due to differences in trauma types and patient demographic characteristics.
This analysis pooled data from six longitudinal studies of adult survivors of civilian-related injuries admitted to general hospital emergency departments (EDs) in six countries (pooled N = 3083). Each study included at least three assessments of the clinician-administered PTSD scale in the first post-trauma year. Latent class growth analysis determined the proportion of participants exhibiting various PTSD symptom trajectories within and across the datasets. Multinomial logistic regression analyses examined demographic characteristics, type of event leading to the injury, and trauma history as predictors of trajectories differentiated by their initial severity and course.
Five trajectories were found across the datasets: Low (64.5%), Remitting (16.9%), Moderate (6.7%), High (6.5%), and Delayed (5.5%). Female gender, non-white race, prior interpersonal trauma, and assaultive injuries were associated with increased risk for initial PTSD reactions. Female gender and assaultive injuries were associated with risk for membership in the Delayed (v. Low) trajectory, and lower education, prior interpersonal trauma, and assaultive injuries with risk for membership in the High (v. Remitting) trajectory.
The results suggest that over 30% of civilian-related injury survivors admitted to EDs experience moderate-to-high levels of PTSD symptoms within the first post-trauma year, with those reporting assaultive violence at increased risk of both immediate and longer-term symptoms.
Although moving from institutional to home-like long-term care (LTC) settings can promote and sustain the health and wellbeing of older adults, there has been little research examining how home is perceived by older adults when moving between care settings. A qualitative study was conducted over a two-year period during the relocation of residents and staff from an institutional LTC home to a purpose-built LTC home in Western Canada. The study explored perceptions of home amongst residents, family members and staff. Accordingly, 210 semi-structured interviews were conducted at five time-points with 35 residents, 23 family members and 81 staff. Thematic analyses generated four superordinate themes that are suggestive of how to create and enhance a sense of home in LTC settings: (a) physical environment features; (b) privacy and personalisation; (c) autonomy, choice and flexibility; and (d) connectedness and togetherness. The findings reveal that the physical environment features are foundational for the emergence of social and personal meanings associated with a sense of home, and highlight the impact of care practices on the sense of home when the workplace becomes a home. In addition, tension that arises between providing care and creating a home-like environment in LTC settings is discussed.
OBJECTIVES/SPECIFIC AIMS: “Cure Quest” is an adventure quest game for mobile tablets that aims to teach the player about the complexities of discovery and development of new medicines. The game instills a sense of wonderment into the learning process, taking the player to a world of magic where a mysterious condition has affected the land and they must follow the steps of the discovery and development process to find a treatment. METHODS/STUDY POPULATION: The game is being developed through a collaboration between faculty and students at ISMMS and the Games and Simulation Arts and Science Program at Rensselaer Polytechnic Institute. The first target audience is 2nd–3rd year medical students, with the future goal of adapting the game to a broader population. RESULTS/ANTICIPATED RESULTS: The game is currently in development, but the project has yielded insight into the design process for serious games in medicine. We found that for a game of this type it is essential not just to have both designers and subject matter experts, but to enable cross-pollination of modes of thinking. Through multiple design iterations and focus groups, we found that a game design approach rooted in narrative and allegorical abstraction would have a better ability to engage the target audience than one focused only on realistic simulation. When complete, we anticipate that the game will improve understanding of the core concepts in drug discovery. DISCUSSION/SIGNIFICANCE OF IMPACT: If successful, the game-based learning approach can help fill key gaps in current formal medical and scientific training, as well as gaps in understanding among the general public. The design process serves as an informative model of evolving collaborative team science.
Projected changes to post-traumatic stress disorder (PTSD) diagnostic criteria in the upcoming International Classification of Diseases (ICD)-11 may affect the prevalence and severity of identified cases. This study examined differences in rates, severity, and overlap of diagnoses using ICD-10 and ICD-11 PTSD diagnostic criteria during consecutive assessments of recent survivors of traumatic events.
The study sample comprised 3863 survivors of traumatic events, evaluated in 11 longitudinal studies of PTSD. ICD-10 and ICD-11 diagnostic rules were applied to the Clinician-Administered PTSD Scale (CAPS) to derive ICD-10 and ICD-11 diagnoses at different time intervals between trauma occurrence and 15 months.
The ICD-11 criteria identified fewer cases than the ICD-10 across assessment intervals (range −47.09% to −57.14%). Over 97% of ICD-11 PTSD cases met concurrent ICD-10 PTSD criteria. PTSD symptom severity of individuals identified by the ICD-11 criteria (CAPS total scores) was 31.38–36.49% higher than those identified by ICD-10 criteria alone. The latter, however, had CAPS scores indicative of moderate PTSD. ICD-11 was associated with similar or higher rates of comorbid mood and anxiety disorders. Individuals identified by either ICD-10 or ICD-11 shortly after traumatic events had similar longitudinal course.
This study indicates that significantly fewer individuals would be diagnosed with PTSD using the proposed ICD-11 criteria. Though ICD-11 criteria identify more severe cases, those meeting ICD-10 but not ICD-11 criteria remain in the moderate range of PTSD symptoms. Use of ICD-11 criteria will have critical implications for case identification in clinical practice, national reporting, and research.
Advances in human genetics and genomics are beginning to move outside the traditional realm of medicine and into the classroom. How will educational officials react when asked to incorporate personalized genomic information into the educational program? This volume bridges the divide between science, education and ethics around the emergent integration of genomics and education. By pairing comprehensive analysis of the issues with primers on the underlying science, the authors put all relevant parties on a level field to facilitate thorough consideration and educated discussion regarding how to move forward in this new era, as well as how best to support the future of education and the future of all students. The volume is unique in bringing together not only scholarly experts but also parents and laypersons. In doing so, it gives voice and understanding to a broad spectrum of disciplines that have a stake in the future of education.
Far from being a static entity, creativity may be observed to evolve over time as the contexts that require it shift and change. This principle is illustrated in the thirty-plus years of biomedicine since the advent of AIDS and the discovery of its viral cause, HIV. This constituted a time period of dramatic changes in the field of biomedical research, particularly with respect to the patient–researcher relationship and the ways that characteristics of a patient population must be understood to effectively shape research practices. The essentially social nature of creativity, usually obscured in this domain, is shown to now play a central role in the field of biomedicine.
The objectives of this study were (1) to evaluate the measurement structure of the Perceived Empathic and Social Self-Efficacy Scale amongst 194 individuals with serious mental illness (SMI) and (2) to establish construct validity for the Perceived Empathic and Social Self-Efficacy Scale. Confirmatory factor analysis yielded a two-factor measurement structure of the Perceived Empathic and Social Self-Efficacy Scale, which was positively associated with insight, social support, and life satisfaction. The Perceived Empathic and Social Self-Efficacy Scale is a useful measure to assess social skills amongst individuals with SMI in rehabilitation counselling.