Genetic influences on the neural basis of social cognition

Abstract

The neural basis of social cognition has been the subject of intensive research in both human and non-human primates. Exciting, provocative and yet consistent findings are emerging. A major focus of interest is the role of efferent and afferent connectivity between the amygdala and the neocortical brain regions, now believed to be critical for the processing of social and emotional perceptions. One possible component is a subcortical neural pathway, which permits rapid and preconscious processing of potentially threatening stimuli, and it leads from the retina to the superior colliculus, to the pulvinar nucleus of the thalamus and then to the amygdala. This pathway is activated by direct eye contact, one of many classes of potential threat, and may be particularly responsive to the 'whites of the eyes'. In humans, autonomic arousal evoked by this stimulus is associated with the activity in specific cortical regions concerned with processing visual information from faces. The integrated functioning of these pathways is modulated by one or more X-linked genes, yet to be identified. The emotional responsiveness of the amygdala, and its associated circuits, to social threat is also influenced by functional polymorphisms in the promoter of the serotonin transporter gene. We still do not have a clear account of how specific allelic variation, in candidate genes, increases susceptibility to developmental disorders, such as autism, or psychiatric conditions, such as anxiety or depressive illness. However, the regulation of emotional responsiveness to social cues lies at the heart of the problem, and recent research indicates that we may be nearing a deeper and more comprehensive understanding.

Behavioural and neurophysiological evidence for face identity and face emotion processing in animals

“…Research on humans based primarily on functional imaging and evoked potential experiments, and neuropsychological observations on patients with brain damage has provided a reasonably detailed picture of the neural substrates involved in face identity and face emotion recognition as well as in face imagery (see Kanwisher & Yovel 2006;Skuse 2006). However, electrophysiological work with both monkeys and sheep has been able to investigate in more detail how faces are processed by the neural networks within the different substrates.…”

Do Gaze Cues in Complex Scenes Capture and Direct the Attention of High Functioning Adolescents with ASD? Evidence from Eye-tracking

“…As screening, diagnosis and genetic understanding continuously improves, some researchers now believe that there may actually be no link between ASD and developmental delay (e.g. Skuse, 2006;2007), highlighting the value of conducting studies with individuals at the high-functioning end of the ASD spectrum.…”

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals

“…A growing number of studies, including ours, suggest that rare and highly penetrant variants, many of which are de novo mutations, have an important role in ASD and SCZ. 1-5 As many arguments suggest a possible role of the X chromosome in these diseases (a high proportion of genes involved in brain development and cognition are located on the X chromosome; [6][7][8] males are more severely affected with SCZ than females 9 and there is a higher prevalence of ASD in males 10 ), our group previously tested a specific subset of X-chromosome genes for rare variants in ASD and SCZ. We identified potentially pathogenic truncating mutations in IL1RAPL1 and in MAOB in addition to multiple rare missense variants in genes encoding proteins of various synaptic functions.…”