S.11.02 Epigenetic control of stress-induced gene transcription and behaviour: relevance to PTSD

Abstract

Copy number variations (CNV) at the 16p11.2 chromosomal region are rare high-risk CNVs associated with various clinical features and psychiatric disorders including intellectual disability, developmental delays, and autism spectrum disorder. No study to date has investigated whether spontaneous neural activity is altered for 16p11.2 CNV carriers and whether this relates to psychiatric traits. The aim of this study is to examine the impact of 16p11.2 deletions (del) and duplications (dup) on spontaneous neural activity and its relationship to psychiatric problems. EEG was previously collected as part of the Simons Searchlight initiative. Using spectral power (delta, theta, alpha, and beta frequency bands), complexity index (CI), and multiscale entropy analysis techniques, we analyzed frontal resting-state EEG data collected from 22 16p11.2 del carriers, 14 dup carriers, and 13 controls. We then examined associations between neural activity and psychiatric traits, measured with the Child Behavior Checklist. Results indicated that EEG entropy was higher for del and dup compared to controls, respectively, at all timescales. CI was also higher for del and dup compared to controls. Theta power of 16p11.2 dup carriers was higher than controls. A strong association was found between entropy at higher timescales and anxiety problems. In addition, a strong correlation was found between theta power and pervasive developmental problems. Atypical spontaneous neural activity is implicated in 16p11.2 CNVs. With higher entropy or theta power, psychiatric traits increase in severity. Our findings provide evidence of the link between genotype, neural activity, and phenotypes in 16p11.2 CNVs.