Joseph P. McCleery

The Neural and Cognitive Time Course of Theory of Mind

Neuroimaging and neuropsychological studies implicate both frontal and temporoparietal cortices when humans reason about the mental states of others. Here, we report an event-related potentials study of the time course of one such “theory of mind” ability: visual perspective taking. The findings suggest that posterior cortex, perhaps the temporoparietal cortex, calculates and represents the perspective of self versus other, and then, later, the right frontal cortex resolves conflict between perspectives during response selection.

Spontaneous versus deliberate vicarious representations: different routes to empathy in psychopathy and autism.

Sir, We read the article recently published by Meffert et al. (2013) with great interest. The authors used functional MRI to investigate vicarious emotional representation in psychopathic offenders, scanning 18 psychopaths and 26 non-offending control subjects. Participants were either presented with video clips of short emotional interactions or experienced similar interactions themselves. Results showed that although psychopaths showed normal patterns of neural activation in response to experience, abnormal patterns of activation were observed during observation of others’ interactions in those regions known to be involved in vicarious emotional experience. However, when participants were instructed to ‘feel with the hands in the videos’ differences in activation between psychopaths and control subjects were significantly reduced in numerous regions of interest, including the medial and anterior left insula, left anterior cingulate cortex, and bilateral angular gyri (Meffert et al. , 2013). The authors conclude that these results point toward reduced spontaneous but intact deliberate vicarious representations in psychopathy.nnPsychopathy represents a severe disorder of personality, characterized by a callous lack of empathy, shallow affect, and a lack of remorse or guilt (Hare, 1991, 2003). Traditional theories have emphasized poor recognition of others’ distress cues, including emotional facial expressions, as central to empathy deficits observed in psychopathy (Blair et al. , 2001, 2004; Montagne et al. , 2005; Dadds et al. , 2006; Dolan and Fullam, 2006; see also meta-analyses by Marsh and Blair, 2008; Wilson et al. , 2011). These findings are extended through the more recent results of Meffert et al. (2013), which suggest that psychopaths may exhibit a particular breakdown in the neural processes that underlie the spontaneous vicarious experience of the emotions of others. Thus, Meffert et al. (2013) findings add significantly to current understanding of empathy deficits in psychopathy, distinguishing between …

Visual preference for social stimuli in individuals with autism or neurodevelopmental disorders: an eye-tracking study

BackgroundRecent research has identified differences in relative attention to competing social versus non-social video stimuli in individuals with autism spectrum disorder (ASD). Whether attentional allocation is influenced by the potential threat of stimuli has yet to be investigated. This is manipulated in the current study by the extent to which the stimuli are moving towards or moving past the viewer. Furthermore, little is known about whether such differences exist across other neurodevelopmental disorders. This study aims to determine if adolescents with ASD demonstrate differences in attentional allocation to competing pairs of social and non-social video stimuli, where the actor or object either moves towards or moves past the viewer, in comparison to individuals without ASD, and to determine if individuals with three genetic syndromes associated with differing social phenotypes demonstrate differences in attentional allocation to the same stimuli.MethodsIn study 1, adolescents with ASD and control participants were presented with social and non-social video stimuli in two formats (moving towards or moving past the viewer) whilst their eye movements were recorded. This paradigm was then employed with groups of individuals with fragile X, Cornelia de Lange, and Rubinstein-Taybi syndromes who were matched with one another on chronological age, global adaptive behaviour, and verbal adaptive behaviour (study 2).ResultsAdolescents with ASD demonstrated reduced looking-time to social versus non-social videos only when stimuli were moving towards them. Individuals in the three genetic syndrome groups showed similar looking-time but differences in fixation latency for social stimuli moving towards them. Across both studies, we observed within- and between-group differences in attention to social stimuli that were moving towards versus moving past the viewer.ConclusionsTaken together, these results provide strong evidence to suggest differential visual attention to competing social versus non-social video stimuli in populations with clinically relevant, genetically mediated differences in socio-behavioural phenotypes.

Implicit Discrimination of Basic Facial Expressions of Positive/Negative Emotion in Fragile X Syndrome and Autism Spectrum Disorder

Fragile X syndrome (FXS) and autism spectrum disorders (ASD) are characterized by impaired social functioning. We examined the spontaneous discrimination of happy and disgusted facial expressions, from neutral faces, in individuals with FXS (n u200a=u200a 13, Mage u200a=u200a 19.70) and ASD (n u200a=u200a 15, Mage u200a=u200a 11.00) matched on adaptive behavior and verbal abilities measured by the Vineland Adaptive Behavior Scale. Eye gaze to the eyes and mouth of neutral faces was also measured. Results suggest individuals with FXS and ASD distinguish facial expressions spontaneously in the same way. Individuals with FXS looked significantly less at the eye region of neutral faces than individuals with ASD. These results provide insight into similarities and differences in face processing in two neurodevelopmental disorders noted for their similarities in social behavior.

Maternal pre-pregnancy weight and externalising behaviour problems in preschool children: a UK-based twin study

Objective To estimate the heritability of child behaviour problems and investigate the association between maternal pre-pregnancy overweight and child behaviour problems in a genetically sensitive design. Design Observational cross-sectional study. Setting The Twins and Multiple Births Association Heritability Study (TAMBAHS) is an online UK-wide volunteer-based study investigating the development of twins from birth until 5u2005years of age. Participants A total of 443 (16% of the initial registered members) mothers answered questions on pre-pregnancy weight and their twins’ internalising and externalising problems using the Child Behavior Checklist and correcting for important covariates including gestational age, twins’ birth weight, age and sex, mothers educational level and smoking (before, during and after pregnancy). Primary outcomes The heritability of behaviour problems and their association with maternal pre-pregnancy weight. Results The genetic analysis suggested that genetic and common environmental factors account for most of the variation in externalising disorders (an ACE model was the most parsimonious with genetic factors (A) explaining 46% (95% CI 33% to 60%) of the variance, common environment (C) explaining 42% (95% CI 27% to 54%) and non-shared environmental factors (E) explaining 13% (95% CI 10% to 16%) of the variance. For internalising problems, a CE model was the most parsimonious model with the common environment explaining 51% (95% CI 44% to 58%) of the variance and non-shared environment explaining 49% (95% CI 42% to 56%) of the variance. Moreover, the regression analysis results suggested that children of overweight mothers showed a trend (OR=1.10, 95% CI 0.58% to 2.06) towards being more aggressive and exhibit externalising behaviours compared to children of normal weight mothers. Conclusions Maternal pre-pregnancy weight may play a role in childrens aggressive behaviour.

Comment on Technology-Based Intervention Research for Individuals on the Autism Spectrum

The purpose of this letter to the editor is to comment on several review papers recently published in the current Journal of Autism and Developmental Disorders, Special Issue on Technology: Software, Robotics, and Translational Science. These reviews address a variety of aspects relating to technology-aided intervention and instruction for individuals with Autism Spectrum Disorders (ASDs). Here, I comment on and evaluate the overall status of research and development in this area, including reflection on current challenges in this area in the context of previous challenges and resolutions in behavioral intervention research. From these reviews and the current evaluation, I further discuss important next steps for the field which may be critical for guiding progress toward meaningful impacts upon individuals with ASD.

Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016

Cornelia de Lange Syndrome (CdLS) is due to mutations in the genes for the structural and regulatory proteins that make up the cohesin complex, and is considered a cohesinopathy disorder or, more recently, a transcriptomopathy. New phenotypes have been recognized in this expanding field. There are multiple clinical issues facing individuals with all forms of CdLS, particularly in the neurodevelopmental system, but also gastrointestinal, cardiac, and musculoskeletal. Aspects of developmental and cell biology have found common endpoints in the biology of the cohesin complex, with improved understanding of the mechanisms, easier diagnostic tests, and the possibility of potential therapeutics, all major clinical implications for the individual with CdLS. The following abstracts are the presentations from the 7th Cornelia de Lange Syndrome Scientific and Educational Symposium, June 22–23, 2016, in Orlando, FL, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting. In addition to the scientific and clinical discussions, there were talks related to practical aspects of behavior including autism, transitions, communication, access to medical care, and databases. At the end of the symposium, a panel was held, which included several parents, affected individuals and genetic counselors, and discussed the greatest challenges in life and how this information can assist in guiding future research. The Research Committee of the CdLS Foundation organizes this meeting, reviews, and accepts abstracts, and subsequently disseminates the information to the families through members of the Clinical Advisory Board and publications. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD.

BDNF Val66Met and 5-HTTLPR genotype are each associated with visual scanning patterns of faces in young children

Previous studies have documented both neuroplasticity-related BDNF Val66Met and emotion regulation-related 5-HTTLPR polymorphisms as genetic variants that contribute to the processing of emotions from faces. More specifically, research has shown the BDNF Met allele and the 5-HTTLPR Short allele to be associated with mechanisms of negative affectivity that relate to susceptibility for psychopathology. We examined visual scanning pathways in response to angry, happy, and neutral faces in relation to BDNF Val66Met and 5-HTTLPR genotyping in 49 children aged 4–7u2009years. Analyses revealed that variations in the visual processing of facial expressions of anger interacted with BDNF Val66Met genotype, such that children who carried at least one low neuroplasticity Met allele exhibited a vigilance–avoidance pattern of visual scanning compared to homozygotes for the high neuroplasticity Val allele. In a separate investigation of eye gaze towards the eye versus mouth regions of neutral faces, we observed that short allele 5-HTTLPR carriers exhibited reduced looking at the eye region compared with those with the higher serotonin uptake Long allele. Together, these findings suggest that genetic mechanisms early in life may influence the establishment of patterns of visual scanning of environmental stressors, which in conjunction with other factors such as negative life events, may lead to psychological difficulties and disorders in the later adolescent and adult years.

Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome

BackgroundExisting literature suggests differences in face scanning in individuals with different socio-behavioural characteristics. Cornelia de Lange syndrome (CdLS) and Rubinstein-Taybi syndrome (RTS) are two genetically defined neurodevelopmental disorders with unique profiles of social behaviour.MethodsHere, we examine eye gaze to the eye and mouth regions of neutrally expressive faces, as well as the spontaneous visual preference for happy and disgusted facial expressions compared to neutral faces, in individuals with CdLS versus RTS.ResultsResults indicate that the amount of time spent looking at the eye and mouth regions of faces was similar in 15 individuals with CdLS and 17 individuals with RTS. Both participant groups also showed a similar pattern of spontaneous visual preference for emotions.ConclusionsThese results provide insight into two rare, genetically defined neurodevelopmental disorders that have been reported to exhibit contrasting socio-behavioural characteristics and suggest that differences in social behaviour may not be sufficient to predict attention to the eye region of faces. These results also suggest that differences in the social behaviours of these two groups may be cognitively mediated rather than subcortically mediated.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.Cornelia de Lange syndrome is a genetic disorder affecting multiple organ systems that exhibits great phenotypic heterogeneity. This Consensus Statement summarizes recommendations for the diagnosis and management of patients with Cornelia de Lange syndrome.