Neural endophenotypes of social behaviour in autism spectrum conditions

Autism is characterized by qualitative impairments in social interaction, communication, and stereotyped repetitive behaviors and/or restricted interests. Beyond these diagnostic criteria, autism is viewed as a neurodevelopmental condition with possibly several etiologies that manifest in complex patterns of atypical structural and functional brain development, cognition, and behavior. Despite the multidimensional nature of and substantial variation within the autism spectrum, impairments in social interaction remain among the most visible hallmarks of the condition. It is this profound developmental deficit in the social domain that makes autism a unique case in the field of social neuroscience. This chapter contributes to the dialogue amongst both the fields of autism research and social neuroscience by deliberately taking the stance of asking how we can understand more about the etiological mechanisms underlying social behavior in autism. It presents a multi-level overview of the literature on the behavioral, neural, and genetic underpinnings of social functioning in autism spectrum conditions (ASC). The main objective is to highlight the current state of the field regarding theory of mind/empathy difficulties in ASC, and then to suggest distinct candidate neural endophenotypes that can bridge the gap between social behavior and genetic mechanisms

Neural Dynamics of Autistic Behaviors: Cognitive, Emotional, and Timing Substrates

What brain mechanisms underlie autism and how do they give rise to autistic behavioral symptoms? This article describes a neural model, called the iSTART model, which proposes how cognitive, emotional, timing, and motor processes may interact together to create and perpetuate autistic symptoms. These model processes were originally developed to explain data concerning how the brain controls normal behaviors. The iSTART model shows how autistic behavioral symptoms may arise from prescribed breakdowns in these brain processes.Air Force Office of Scientific Research (F49620-01-1-0397); Office of Naval Research (N00014-01-1-0624

Autism as a disorder of neural information processing: directions for research and targets for therapy

The broad variation in phenotypes and severities within autism spectrum disorders suggests the involvement of multiple predisposing factors, interacting in complex ways with normal developmental courses and gradients. Identification of these factors, and the common developmental path into which theyfeed, is hampered bythe large degrees of convergence from causal factors to altered brain development, and divergence from abnormal brain development into altered cognition and behaviour. Genetic, neurochemical, neuroimaging and behavioural findings on autism, as well as studies of normal development and of genetic syndromes that share symptoms with autism, offer hypotheses as to the nature of causal factors and their possible effects on the structure and dynamics of neural systems. Such alterations in neural properties may in turn perturb activity-dependent development, giving rise to a complex behavioural syndrome many steps removed from the root causes. Animal models based on genetic, neurochemical, neurophysiological, and behavioural manipulations offer the possibility of exploring these developmental processes in detail, as do human studies addressing endophenotypes beyond the diagnosis itself

The Structure of Temperament and Personality Traits: A Developmental Perspective

In this chapter, we articulate a developmental perspective on personality traits from early childhood through adulthood. In the first section, we address two topics that are fundamental in defining the most important traits at each point in the life span: the relationship between temperament and personality and the methods used to ascertain the structure of traits in the temperament and personality research traditions. We argue in this section that temperament and personality are different ways of describing the same basic traits, with temperament research primarily focused on early-emerging individual differences and personality research focused on individual differences that appear later in childhood and continue into adulthood. In the second section, we describe the current status of the most prominent models of temperament, as well as the most widely-accepted personality trait model, the Big Five. In the third section, we articulate a structural model that integrates contemporary findings on temperament and personality traits from early childhood through adulthood. We use the Big Five trait structure, along with the trait of activity level, to organize this taxonomy. In the fourth section, we discuss the current research on the psychological and biological processes that underlie individual differences in the Big Five traits in childhood and adulthood. In the final sections, we offer concluding thoughts on the nature of personality trait development and suggestions for future research. This is an exciting time in the study of personality in part because of the marked progress in uncovering the basic structure of traits across the lifespan.

Developmental pathways to autism: a review of prospective studies of infants at risk

Autism Spectrum Disorders (ASDs) are neurodevelopmental disorders characterized by impairments in social interaction and communication, and the presence of restrictive and repetitive behaviors. Symptoms of ASD likely emerge from a complex interaction between pre-existing neurodevelopmental vulnerabilities and the child's environment, modified by compensatory skills and protective factors. Prospective studies of infants at high familial risk for ASD (who have an older sibling with a diagnosis) are beginning to characterize these developmental pathways to the emergence of clinical symptoms. Here, we review the range of behavioral and neurocognitive markers for later ASD that have been identified in high-risk infants in the first years of life. We discuss theoretical implications of emerging patterns, and identify key directions for future work, including potential resolutions to several methodological challenges for the field. Mapping how ASD unfolds from birth is critical to our understanding of the developmental mechanisms underlying this disorder. A more nuanced understanding of developmental pathways to ASD will help us not only to identify children who need early intervention, but also to improve the range of interventions available to them

Defining the cognitive phenotype of autism

Although much progress has been made in determining the cognitive profile of strengths and weaknesses that characterise individuals with autism spectrum disorders (ASDs), there remain a number of outstanding questions. These include how universal strengths and deficits are; whether cognitive subgroups exist; and how cognition is associated with core autistic behaviours, as well as associated psychopathology. Several methodological factors have contributed to these limitations in our knowledge, including: small sample sizes, a focus on single domains of cognition, and an absence of comprehensive behavioural phenotypic information. To attempt to overcome some of these limitations, we assessed a wide range of cognitive domains in a large sample (N = 100) of 14- to 16-year-old adolescents with ASDs who had been rigorously behaviourally characterised. In this review, we will use examples of some initial findings in the domains of perceptual processing, emotion processing and memory, both to outline different approaches we have taken to data analysis and to highlight the considerable challenges to better defining the cognitive phenotype(s) of ASDs. Enhanced knowledge of the cognitive phenotype may contribute to our understanding of the complex links between genes, brain and behaviour, as well as inform approaches to remediation