Subtypes in 22q11.2 deletion syndrome associated with behaviour and neurofacial morphology

22q11.2 deletion syndrome (22q11DS) has a complex phenotype with more than 180 characteristics, including cardiac anomalies, cleft palate, intellectual disabilities, a typical facial morphology, and mental health problems. However, the variable phenotype makes it difficult to predict clinical outcome, such as the high prevalence of psychosis among adults with 22q11DS (～25–30% vs. ～1% in the general population). The purpose of this study was to investigate whether subtypes exist among people with 22q11DS, with a similar phenotype and an increased risk of developing mental health problems. Physical, cognitive and behavioural data from 50 children and adolescents with 22q11DS were included in a k-means cluster analysis. Two distinct phenotypes were identified: Type-1 presented with a more severe phenotype including significantly impaired verbal memory, lower intellectual and academic ability, as well as statistically significant reduced total brain volume. In addition, we identified a trend effect for reduced temporal grey matter. Type-1 also presented with autism-spectrum traits, whereas Type-2 could be described as having more 22q11DS-typical face morphology, being predominately affected by executive function deficits, but otherwise being relatively high functioning with regard to cognition and behaviour. The confirmation of well-defined subtypes in 22q11DS can lead to better prognostic information enabling early identification of people with 22q11DS at high risk of psychiatric disorders. The identification of subtypes in a group of people with a relatively homogenous genetic deletion such as 22q11DS is also valuable to understand clinical outcomes.     

Correction to: Faintly tired: a systematic review of fatigue in patients with orthostatic syncope

Clinical Autonomic Research -     

High-Frequency Transcranial Magnetic Stimulation Combined With Functional Magnetic Resonance Imaging Reveals Distinct Activation Patterns Associated With Different Dorsolateral Prefrontal Cortex Stimulation Sites

ObjectivesTranscranial magnetic stimulation (TMS) has been extensively used for the treatment of depression, obsessive-compulsive disorder, and certain neurologic disorders. Despite having promising treatment efficacy, the fundamental neural mechanisms of TMS remain understudied.Materials and MethodsIn this study, 15 healthy adult participants received simultaneous TMS and functional magnetic resonance imaging to map the modulatory effect of TMS when it was applied over three different sites in the dorsolateral prefrontal cortex. Independent component analysis (ICA) was used to identify the networks affected by TMS when applied over the different sites. The standard general linear model (GLM) analysis was used for comparison.ResultsICA showed that TMS affected the stimulation sites as well as remote brain areas, some areas/networks common across all TMS sites, and other areas/networks specific to each TMS site. In particular, TMS site and laterality differences were observed at the left executive control network. In addition, laterality differences also were observed at the dorsal anterior cingulate cortex and dorsolateral/dorsomedial prefrontal cortex. In contrast with the ICA findings, the GLM-based results mainly showed activation of auditory cortices regardless of the TMS sites.ConclusionsOur findings support the notion that TMS could act through a top-down mechanism, indirectly modulating deep subcortical nodes by directly stimulating cortical regions.Clinical Trial RegistrationThe Clinicaltrials.gov registration number for the study is NCT03394066.     

Association of social support during emergency department evaluation for acute coronary syndrome with subsequent posttraumatic stress symptoms

We examined the associations of different aspects of social support during emergency department (ED) evaluation for an acute cardiac event with perceptions of threat in the ED and subsequent posttraumatic stress symptoms (PSS) in 484 patients. Participants were enrolled in the ED where they reported on their perceptions of threat in the ED. Social support in the ED and PSS were assessed at inpatient bedside or by telephone a median of 3 days later. Positive aspects of social support were not associated with subsequent PSS. Anxiety-provoking social support was significantly associated with increased PSS at follow-up. Greater ED threat perception partially mediated that relationship.     

Individualism-Collectivism,Social Self-Control and Adolescent Substance Use and Risky Sexual Behavior

Individualism and collectivism are cultural syndromes that have been associated with adolescent problem behavior in studies conducted in the U.S. and Southeast Asia. However, research investigating the mechanisms of how cultural orientation impacts health risk behaviors has been limited. This study tested a new model explaining the relationship between cultural orientation (i.e., individualism, collectivism) and adolescent problem behavior (i.e., substance use and risky sex) in terms of interpersonal self-regulation (i.e., social self-control). As such, the study is rooted in theories of the role of culture in developing self-regulation. Participants were high school students (N = 716) from the Bashkirtostan Republic of the Russian Federation. Adolescents from the Russian Federation tend to show high prevalence of cigarette smoking and binge drinking. People of the Russian Federation in general are traditionally collectivist in orientation, although increased globalization and post-Soviet capitalism may indicate high individualist values in younger generation Russians. Using path analysis we found that in addition to having direct effects, higher individualism indirectly affected substance use and risky sexual behavior through social self-control and negative life events. Higher collectivism was found to have a direct protective effect on risky sexual behavior and a direct effect on social self-control. However, collectivism was not found to have indirect effects on substance use or risky sexual behavior. Higher individualism appears to function as a risk factor for adolescent problem behavior and this relationship may be mediated by lower social self-control. Culturally-tailored prevention programs utilizing the individualism-collectivism framework may benefit from addressing social self-control.