The Broad Autism (Endo)Phenotype: Neurostructural and Neurofunctional Correlates in Parents of Individuals with Autism Spectrum Disorders

Autism Spectrum Disorders (ASD) are a set of neurodevelopmental disorders with an early-onset and a strong genetic component in their pathogenesis. According to genetic and epidemiological data, ASD relatives present personality traits similar to, but not as severe as the defining features of ASD, which have been indicated as the "Broader Autism Phenotype" (BAP). BAP features seem to be more prevalent in first-degree relatives of individuals with ASD than in the general population. Characterizing brain profiles of relatives of autistic probands may help to understand ASD endophenotype. The aim of this review was to provide an up-to-date overview of research findings on the neurostructural and neurofunctional substrates in parents of individuals with ASD (pASD). The primary hypothesis was that, like for the behavioral profile, the pASD express an intermediate neurobiological pattern between ASD individuals and healthy controls. The 13 reviewed studies evaluated structural magnetic resonance imaging (MRI) brain volumes, chemical signals using magnetic resonance spectroscopy (MRS), task-related functional activation by functional magnetic resonance imaging (fMRI), electroencephalography (EEG), or magnetoencephalography (MEG) in pASD.The studies showed that pASD are generally different from healthy controls at a structural and functional level despite often not behaviorally impaired. More atypicalities in neural patterns of pASD seem to be associated with higher scores at BAP assessment. Some of the observed atypicalities are the same of the ASD probands. In addition, the pattern of neural correlates in pASD resembles that of adult individuals with ASD, or it is specific, possibly due to a compensatory mechanism. Future studies should ideally include a group of pASD and HC with their ASD and non-ASD probands respectively. They should subgrouping the pASD according to the BAP scores, considering gender as a possible confounding factor, and correlating these scores to underlying brain structure and function. These types of studies may help to understand the genetic mechanisms involved in the various clinical dimension of ASD

Neural Correlates of Social Pain in Psychological Disorders: Implications for Educational Settings

Pain has long been defined as a multidimensional construct; in past research, not only have the physical and sensory aspects of pain been investigated, but also the cognitive and emotional aspects, which include the experience of social pain. This experience is generally accepted to be very distressing and can have adverse effects on one\u27s mental health, especially for those with neurological disorders. In my paper, I examine the effects of social pain on brain activity in individuals with autism spectrum disorder (ASD) and borderline personality disorder (BPD) as compared to those who are neurotypical. This research finds that while neurotypical individuals show neural hyperactivity in key brain regions during social exclusion, individuals with ASD show hypoactivity during exclusion, and BPD patients show hyperactivity under both inclusion and exclusion conditions. This information provides useful tools for educators and has practical applications for teaching and interpersonal management strategies

Mapping the specific pathways to early-onset mental health disorders : the "Watch Me Grow for REAL" study protocol

Background: From birth, the human propensity to selectively attend and respond to critical super-stimuli forms the basis of future socio-emotional development and health. In particular, the first super-stimuli to preferentially engage and elicit responses in the healthy newborn are the physical touch, voice and face/eyes of caregivers. From this grows selective attention and responsiveness to emotional expression, scaffolding the development of empathy, social cognition, and other higher human capacities. In this paper, the protocol for a longitudinal, prospective birth-cohort study is presented. The major aim of this study is to map the emergence of individual differences and disturbances in the system of social-Responsiveness, Emotional Attention, and Learning (REAL) through the first 3 years of life to predict the specific emergence of the major childhood mental health problems, as well as social adjustment and impairment more generally. A further aim of this study is to examine how the REAL variables interact with the quality of environment/caregiver interactions. Methods/Design: A prospective, longitudinal birth-cohort study will be conducted. Data will be collected from four assessments and mothers' electronic medical records. Discussion: This study will be the first to test a clear developmental map of both the unique and specific causes of childhood psychopathology and will identify more precise early intervention targets for children with complex comorbid conditions

The Broader Autism Phenotype in the Parents of Children With Autism Spectrum Conditions

Progress in our understanding of the aetiology of Autism Spectrum Conditions (ASC) can be informed by research into the expression of the Broader Autism Phenotype (BAP) in the unaffected genetic relatives of people with ASC. This thesis commences with a comprehensive literature review of the BAP (chapter one), followed by an online study into the BAP in people with ASC, their first-degree relatives and controls focusing on empathy and basic facial emotion recognition (chapter two). Results provide support for the BAP in male first-degree relatives (fathers) who self-reported significantly lower empathy than controls. After setting out the general methods (chapter three), three further empirical studies are described (chapters four to six) that assess whether there are quantitative differences in the expression of autistic traits and related phenotypes in the unaffected parents of simplex (single incidence) and multiplex (multiple incidence) autism families. Multiplex parents were significantly less accurate than simplex parents at attributing mental states to others after controlling for verbal intelligence and performed significantly worse than either simplex parents or controls at identifying specific negative basic emotions from facial expressions. These significant differences in the social domain provide support for the hypothesis that differential genetic mechanisms operate in multiplex and simplex autism. There was also significantly greater aggregation of ADHD traits in multiplex families compared to simplex families, which supports the hypothesis of genetic overlap between ASC and ADHD and bolsters future investigations of crosssyndrome endopheno types for these conditions. The final empirical study of this thesis (chapter seven) explores the hypothesis that autistic characteristics are ‘fractionable’ in ASC parents in ways that are consistent with the DSM-5 defined dyad of behavioural impairments characterizing clinical ASC. The thesis concludes with a summary of findings and implications for future autism research and clinical practice, together with suggestions for future directions in the area of BAP research (chapter eight)

Mixed emotions: The contribution of alexithymia to the emotional symptoms of autism

It is widely accepted that autism is associated with disordered emotion processing, and in particular, with deficits of emotional reciprocity such as impaired emotion recognition and reduced empathy. However, a close examination of the literature reveals wide heterogeneity within the autistic population with respect to emotional competence. Here we argue that, where observed, emotional impairments are due to alexithymia - a condition that frequently co-occurs with autism - rather than a feature of autism per se. Alexithymia is a condition characterized by a reduced ability to identify and describe one’s own emotion, but which results in reduced empathy and an impaired ability to recognize the emotions of others. We briefly review studies of emotion processing in alexithymia, and in autism, before describing a recent series of studies directly testing this ‘alexithymia hypothesis’. If found to be correct, the alexithymia hypothesis has wide-reaching implications for the study of autism, and how we might best support sub-groups of autistic individuals with, and without, accompanying alexithymia. Finally, we note the presence of elevated rates of alexithymia, and inconsistent reports of emotional impairments, in eating disorders, schizophrenia, substance abuse, Parkinson’s Disease, Multiple Sclerosis, and anxiety disorders. We speculate that examining the contribution of alexithymia to the emotional symptoms of these disorders may bear fruit in the same way that it is starting to do in autism

The Female Variation of Autism Spectrum Disorder - An fMRI Study

Objective: Despite the fact that Autism Spectrum Disorder (ASD) is a common psychiatric issue and an abundance of research is available, knowledge about special symptomatic and behavioral features in respect to the female sex/gender is still scarce. The present study ‘The Female Variation of Autism Spectrum Disorder - An fMRI Study’ aimed to investigate neural correlates of recognition and interpretation of complex social emotions in women and girls with ASD and compare results to typically developed girls and women. Participants & study procedure: Groups of 9 female individuals with high functioning ASD and 9 healthy female controls were compared during two fMRI paradigms, one examining physical pain and one investigating 'social pain' in form of the complex social emotion of empathic embarrassment. Participants were asked to rate multiple pictures according to how physically painful they thought a situation was for another person or to how embarrassed they thought a depicted protagonist felt in either a situation, in which he/she was aware of the embarrassment, or a scenario, in which the target person was not aware of the fact that something embarrassing was happening. Results: Comparing the healthy control group with the individuals affected by ASD, no differences in their judgment and therefore their ratings towards the levels of physical pain were found. However, the fMRI scans showed lower activation of the anterior insula and brainstem in subjects affected by autism compared to controls. For the socially painful situations, there was a significant difference between groups especially for the stimuli depicting unaware embarrassment situations, with typically developed females rating these scenarios as less embarrassing while ratings of girls with ASD remaining high, suggesting they had difficulties taking on the other person's perspective. On a neural level, compared to controls the ASD-group exhibited lower activation of the left insula, an important part of the brain’s network for processing social-emotional clues. Conclusion: Females with high functioning ASD are able to distinguish physically and socially painful situations as such. Their brain scans show signs of vicariously experienced emotions by activation of neural pathways known to process social-emotional matters. However, the neural activation of some important regions, especially the anterior insula, is less intense than in healthy controls. This suggests that individuals with ASD have difficulties entirely taking over a person's perspective and realizing that someone can't feel embarrassed about something he/she is not aware of

Analysis of beta-band MEG coherence in ASD during direct gaze processing: Relationship to social cognition

Gaze-following is a rudimentary behavior that forms the foundation of social communication, where aberrant social orienting is a defining feature of Autism Spectrum Disorders (ASD; Hoehl et al., 2009; Nummenmaa & Cal der, 2009). Recent neuroimaging research has demonstrated increasing precision at identifying aberrant brain response patterns in individuals with ASD, but no studies have employed a more holistic neural network approach analyzing coherence (i.e., synchrony of neural oscillations) during direct gaze processing. The current study examined coherence between each pair of 54 brain regions and the relationship between average coherence and psychometric measures of social cognition in eleven participants with ASD and eight typically developing (TD) controls, who passively viewed direct gaze while undergoing Magnetoencephalography (MEG). Results revealed significant intra- and inter-hemispheric between-group differences in average coherence (1-45 Hz), providing preliminary support for increased long-range left hemisphere coherence and increased interhemisphere occipital-occipital activity in individuals with ASD

Brain Activity in College Students with the Broad Autism Phenotype

Abstract This study examined brain activity in college students with the broad autism phenotype (BAP) while viewing facial expressions. Quantitative Electroencephalogram assessments were conducted in the temporal lobe area in the brains of 38 college students declared as Science, Technology, Engineering, and Math (STEM) majors. Participants were divided into BAP+ versus BAP- groups based on their scores on the Broad Autism Phenotype Questionnaire (BAPQ). Findings revealed that individuals categorized as BAP+ demonstrated a higher alpha relative power score and a higher T4 relative to T3 coherence Z score when looking at expressive faces than when looking at neutral faces when compared to the BAP- individuals. Also, participants classified as BAP+ had significantly lower social adjustment than those classified as BAP-. Findings discuss the possibility of using QEEG BAP+ brain markers as an objective measure of social impairments in at-risk college students. Keywords: Broad Autism Phenotype (BAP), Autism Spectrum Disorder (ASD), Electroencephalography (EEG), alpha activity, face processin

Restoring Connectedness in and to Nature: Three Nordic Examples of Recontextualizing Family Therapy to the Outdoors

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