Replicated linear association between DUF1220 copy number and severity of social impairment in autism.

Sequences encoding DUF1220 protein domains exhibit an exceptional human-specific increase in copy number and have been associated with several phenotypes related to brain size. Autism is a highly heritable and heterogeneous condition characterized behaviorally by social and communicative impairments, and increased repetitive and stereotyped behavior. Given the accelerated brain growth pattern observed in many individuals with autism, and the association between DUF1220 subtype CON1 copy number and brain size, we previously investigated associations between CON1 copy number and autism-related symptoms. We determined that CON1 copy number increase is associated with increasing severity of all three behavioral features of autism. The present study sought to replicate these findings in an independent population (N = 166). Our results demonstrate a replication of the linear relationship between CON1 copy number and the severity of social impairment in individuals with autism as measured by Autism Diagnostic Interview-Revised Social Diagnostic Score, such that with each additional copy of CON1 Social Diagnostic Score increased 0.24 points (SE = 0.11, p = 0.036). We also identified an analogous trend between CON1 copy number and Communicative Diagnostic Score, but did not replicate the relationship between CON1 copy number and Repetitive Behavior Diagnostic Score. Interestingly, these associations appear to be most pronounced in multiplex children. These results, representing the first replication of a gene dosage relationship with the severity of a primary symptom of autism, lend further support to the possibility that the same protein domain family implicated in the evolutionary expansion of the human brain may also be involved in autism severity.

Impaired visuomotor adaptation in adults with ADHD.

Attention-deficit hyperactivity disorder (ADHD) is a prevalent psychiatric disorder in children that often continues into adulthood. It has been suggested that motor impairments in ADHD are associated with underlying cerebellar pathology. If such is the case, individuals with ADHD should be impaired on motor tasks requiring healthy cerebellar function. To test this, we compared performance of individuals with ADHD and ADHD-like symptoms with non-ADHD controls on a visuomotor adaptation task known to be impaired following cerebellar lesions. Participants adapted reaching movements to a visual representation that was rotated by 30°. Individuals with ADHD and those with ADHD-like symptoms took longer to correct the angle of movement once the rotation was applied relative to controls. However, post-adaptation residual effect did not differ for individuals with ADHD and ADHD-like symptoms compared to the control group. These results are consistent with the hypothesis that mild cerebellar deficits are evident in the motor performance of adults with ADHD.

[Contemporary legislation and importance of psychophysiologic examination in system of medical support for workers engaged into production with radiation and nuclear danger].

In accordance with contemporary legislation, the article covers materials on specification and approbation of concept model for psychophysiologic examination in medical establishments during medical examination of workers engaged into production with raidation and nuclear danger. The authors defined methodology, examination methods and designed an order of psychophysiologic examination. The psychophysiologic examination and purpose-oriented rehabilitation appeared efficient.

The functional assessment of maladaptive behaviors: a preliminary evaluation of binge eating and purging among women.

This study applied a functional approach to the study of bingeing and purging behaviors. Based on a four-function theoretical model of bingeing and purging, it was hypothesized that these behaviors are performed because of their intrapersonally reinforcing (e.g., emotion regulation) and/or interpersonally reinforcing (e.g., help-seeking, attention-getting behavior) properties. Participants were 298 adult females who had engaged in bingeing or purging in the last 3 months and who provided data via an online survey of these behaviors. Confirmatory factor analyses revealed support for a four-function model of bingeing and purging in which people use these behaviors for intrapersonal reinforcement functions and also for interpersonal reinforcement. Understanding the functions of binge eating and purging has direct implications for assessment and treatment of these behaviors.

[Peculiarities of the immune status of soldiers taken ill with extramural pneumonia during battle action].

The article deals with violations of general resistance of the organism of military men, who get extramural pneumonia during the battle action. The author analyzed the data of immune status in three groups of soldiers. Statistical analysis of materials led to the conclusion that violations of immunity in the main group depend on the circumstances and nature of military service. This fact indicates that the significant clinical and pathogenetic differences in the development, course and outcome of an extramural pneumonia against the background of chronic adaptation syndrome. Pathogenic peculiarities of patients with pneumonia against the background of the impact of extreme factors of the military conflicts are presented in a prolonged dysfunction of all parts of the immune system.

[The characteristics of the development of an adaptation syndrome in severe gestosis]. / Osobennosti formirovaniia adaptatsionnogo sindroma pri tiazhelom gestoze.

Basic metabolic pathways were studied of formation of the adaptive syndrome in the organism of patients with grave gestoses: glycolysis, gluconeogenesis, and pentosephosphate pathway of production of nicotinamide coenzymes. It has been found out that a stressful character of reconstruction of metabolic homeostasis tends to change the processes of glycolysis and gluconeogenesis that had come to be formed by evolution. This warrants further study, its purpose being a specific correction of intracellular metabolism and prevention of complications. Ozonohemo- and antioxidant therapy in a complex of intensive treatment measures for patients with severe gestoses make for stimulation of pentosephosphate pathway and glycolysis.

Broadly defined risk mental states during adolescence: disorganization mediates positive schizotypal expression.

While schizotypal features are common during adolescence, they can also signal increased risk for the onset of schizophreniform disorders. Most studies with adolescents find that hallucination and delusion-like symptoms (positive schizotypal features) best predict future psychopathology. Still, the developmental process of positive schizotypy remains elusive, specifically with regards to 1) its relationships to negative and disorganization schizotypal dimensions; 2) its associations to maladaptive functioning during adolescence. This longitudinal study aimed to further characterize these relationships, thereby delineating "early and broadly defined psychosis risk mental states" (Keshavan et al., 2011). The current study presents the 3-year course of schizotypal trait expression in 34 clinical adolescents aged 12 to 18 years consulting for non-psychotic difficulties. Schizotypal expression was assessed twice using the Schizotypal Personality Questionnaire, accompanied by an examination of internalizing/externalizing problems using the Achenbach scales. Cross-sectional and longitudinal analyses were conducted to assess the expression and course of schizotypal dimensions; mediation analyses were further employed to highlight the developmental interactions promoting the maintenance of positive schizotypal expression. The results reveal that positive schizotypy, and more specifically unusual perceptual experiences, significantly declined during the study interval. Disorganization features were found to mediate the relationships between the negative and positive dimensions of schizotypy within and across evaluations. Somatic complaints and attentional difficulties further strengthened the expression of positive schizotypy during the study interval. These results suggest that the relationship between disorganization features and positive schizotypy may play a central role in establishing risk for psychosis during adolescence.

Stress reactivity and corticolimbic response to emotional faces in adolescents.

OBJECTIVE: Adolescence is a critical period in the development of lifelong patterns of responding to stress. Understanding underpinnings of variations in stress reactivity in adolescents is important, as adolescents with altered stress reactivity are vulnerable to negative risk-taking behaviors including substance use, and have increased lifelong risk for psychopathology. Although both endocrinological and corticolimbic neural system mechanisms are implicated in the development of stress reactivity patterns, the roles of these systems and interactions between the systems in reactivity to social stimuli in adolescents are not clear. We investigated the relationship between cortisol response to a laboratory-based social stressor and regional brain responses to emotional face stimuli in adolescents. METHOD: Changes in cortisol levels following the Trier Social Stress Test-Child version (TSST-C) were measured in 23 disadvantaged and chronically stressed adolescents who also participated in functional magnetic resonance imaging during processing of emotional faces and structural magnetic resonance imaging. The relationships between changes in cortisol following the TSST-C with regional brain activation during face processing, as well as with regional brain morphology, were assessed. RESULTS: Cortisol change on the TSST-C showed a significant inverse relationship with left hippocampus response to fearful faces (p < .05, corrected); significant associations with volume were not observed. CONCLUSIONS: Increased cortisol response to the Trier social stressor was associated with diminished response of the left hippocampus to faces depicting fear. This suggests that HPA-corticolimbic system mechanisms may underlie vulnerability to maladaptive responses to stress in adolescents that may contribute to development of stress-related disorders.

Early maladaptive schemas in children: development and validation of the Schema Inventory for Children.

A Schema Inventory for Children (SIC) was developed, based on Young's schema model. Its psychometric properties were investigated in a non-clinical multi-ethnic sample of children, aged 8-13 years. The latent structure of the SIC was explored using a cross-validation design. Confirmatory factor analyses yielded satisfying fits for a modified model, that included 8 of the original 15 schema factors, as well as 3 new factors, each containing a theoretically meaningful combination of 2 or 3 original schema factors. Our data suggest that, to a certain extent, children present with the same schemas as identified in adolescents and adults, although some unique, children-specific schemas occurred. SIC item loadings were moderate to good, and all factors showed adequate discriminant validity. However, factor reliability estimates were mediocre, but in most cases still acceptable. Furthermore, results suggest adequate stability for all SIC scales. Finally, strong relations between most of the SIC scales and measures of psychopathology were found, although an opposite pattern of associations emerged for two scales (i.e., Enmeshment and Self-Sacrifice), suggesting that these schemas are not maladaptive -yet- at this young age.