Many copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, showing that CNVs have large effects on brain anatomy. Here, we aimed to characterize and quantify the distinct brain morphometry effects and latent dimensions across 8 neuropsychiatric CNVs. We analyzed T1-weighted MRI data from clinically and non-clinically ascertained CNV carriers (deletion/duplication) at the 1q21.1 (n = 39/28), 16p11.2 (n = 87/78), 22q11.2 (n = 75/30), and 15q11.2 (n = 72/76) loci as well as 1296 non-carriers (controls). Case-control contrasts of all examined genomic loci demonstrated effects on brain anatomy, with deletions and duplications showing mirror effects at the global and regional levels. Although CNVs mainly showed distinct brain patterns, principal component analysis (PCA) loaded subsets of CNVs on two latent brain dimensions, which explained 32 and 29% of the variance of the 8 Cohen’s d maps. The cingulate gyrus, insula, supplementary motor cortex, and cerebellum were identified by PCA and multi-view pattern learning as top regions contributing to latent dimension shared across subsets of CNVs. The large proportion of distinct CNV effects on brain morphology may explain the small neuroimaging effect sizes reported in polygenic psychiatric conditions. Nevertheless, latent gene brain morphology dimensions will help subgroup the rapidly expanding landscape of neuropsychiatric variants and dissect the heterogeneity of idiopathic conditions.
Evidence suggests that social skills are affected by childhood mild traumatic brain injury (mTBI), but the neural and affective substrates of these difficulties are still underexplored. In particular, nothing is known about consequences on the perception of emotional facial expressions, despite its critical role in social interactions and the importance of the preschool period in the development of this ability. This study thus aimed to investigate the electrophysiological correlates of emotional facial expressions processing after early mTBI. To this end, 18 preschool children (mean age 53 ± 8 months) who sustained mTBI and 15 matched healthy controls (mean age 55 ± 11 months) were presented with pictures of faces expressing anger, happiness, or no emotion (neutral) while event-related potentials (ERP) were recorded. The main results revealed that P1 amplitude was higher for happy faces than for angry faces, and that N170 latency was shorter for emotional faces than for neutral faces in the control group only. These findings suggest that preschool children who sustain mTBI do not present the early emotional effects that are observed in healthy preschool children at visuospatial and visual expertise stages. This study provides new evidence regarding the consequences of childhood mTBI on socioemotional processing, by showing alterations of emotional facial expressions processing, an ability known to underlie social competence and appropriate social interactions. Keywords Mild traumatic brain injury. Emotional facial expression. Social skills. Childhood. Event-related potential Pediatric traumatic brain injury (TBI) is a highly prevalent problem known to result in a range of cognitive impairments (Crowe, Catroppa, & Anderson, 2015). In addition, childhood brain injury has been linked to socioemotional problems, the neural and cognitive substrates of which remain underexplored despite evidence suggesting that social and affective difficulties worsen with time since injury (
Our results suggest a link between increased perinatal maternal emotional symptoms and the age at first FS. An earlier age at first FS may be the manifestation of a lower seizure threshold. Early first seizure occurrence is a risk factor for compromised neurological and cognitive development. Further studies should address the mechanisms by which perinatal maternal emotional symptoms may have an impact on seizure threshold in humans.
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