Die schönsten Lieder der Ostjuden : siebenundvierzig ausgewählte Volkslieder

hrsg. von Fritz Mordechai Kaufmann

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a complex genetic etiology is assumed in the majority of affected individuals. The present study tested whether six large recurrent copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 previously associated with neurodevelopmental disorders also increase risk of RE. Our association analyses revealed a significant excess of the 600 kb genomic duplication at the 16p11.2 locus (chr16: 29.5-30.1 Mb) in 393 unrelated patients with typical (n = 339) and atypical (ARE; n = 54) RE compared with the prevalence in 65,046 European population controls (5/393 cases versus 32/65,046 controls; Fisher's exact test P = 2.83 × 10(-6), odds ratio = 26.2, 95% confidence interval: 7.9-68.2). In contrast, the 16p11.2 duplication was not detected in 1738 European epilepsy patients with either temporal lobe epilepsy (n = 330) and genetic generalized epilepsies (n = 1408), suggesting a selective enrichment of the 16p11.2 duplication in idiopathic focal childhood epilepsies (Fisher's exact test P = 2.1 × 10(-4)). In a subsequent screen among children carrying the 16p11.2 600 kb rearrangement we identified three patients with RE-spectrum epilepsies in 117 duplication carriers (2.6%) but none in 202 carriers of the reciprocal deletion. Our results suggest that the 16p11.2 duplication represents a significant genetic risk factor for typical and atypical RE.

Challenge stressors: longitudinal effects on self attitudes, work attitudes, and health.

Recent research suggests that some stressors (i.e. hindrance stressors) have mainly negative consequences, whereas others (i.e. challenge stressors) can simultaneously have positive and negative consequences (e.g., LePine et al., 2005). Although a number of studies have dealt with potential outcomes of challenge stressors, some criteria have received only limited attention (e.g., positive self-attitudes; cf. Widmer et al., 2012), and some have been neglected altogether (i.e., physical health outcomes). Furthermore, while sophisticated methods – such as meta-analyses (e.g., LePine et al., 2005), diary studies (Ohly & Fritz, 2010), and multi-source analyses (Wallace et al., 2009) – have been applied to the framework, there are no longitudinal studies. We report results from a longitudinal study containing three waves, with two time-lags of one month each (N = 393). We analyzed relationships between challenge stressors and work attitudes (e.g. job satisfaction), self attitudes (e.g. self-esteem), and health indicators (e.g. sleep quality) using cross-lagged SEM. We expected positive effects of challenge stressors to appear only when their negative variance is controlled (e.g. by including hindrance stressors as a suppressor variable; cf. Cavanaugh et al., 2000). As the positive aspects of challenge stressors relate to self-affirming experiences, we also expected positive effects to be especially strong for self attitudes. Regarding work attitudes, the only significant paths found were from work attitudes to challenge stressors over both time lags. Regarding health, there was a significant cross-sectional association at time 1, which was negative, as expected. Longitudinally, a positive path from challenge stressors to health for both time lags was found only when hindrances stressors were controlled, confirming the expected suppressor effect. Hindrance stressors had a negative effect on health. For self-attitudes, there was a positive cross-sectional association at time one. In addition, a positive effect on self attitudes was found longitudinally for both time lags, but only when hindrance stressors were controlled. Additional analyses showed that the positive longitudinal effect on health was mediated by self attitudes. Although the lack of associations with work attitudes was surprising, our results indicate that challenge stressors contain aspects that provide an opportunity to develop self-esteem through demanding work situations, thereby contributing to personal growth and thriving at the workplace. They also confirm the ambiguous nature of challenge stressors, as, with one exception, positive effects were found only when hindrance stressors were controlled (cf. Widmer et al., 2012). Finally, our results confirm the importance of self-related attitudes in the stress process.