Leveraging epigenetics to examine differences in developmental trajectories of social attention: A proof-of-principle study of DNA methylation in infants with older siblings with autism

Preliminary evidence suggests that changes in DNA methylation, a widely studied epigenetic mechanism, contribute to the etiology of Autism Spectrum Disorder (ASD). However, data is primarily derived from post-mortem brain samples or peripheral tissue from adults. Deep-phenotyped longitudinal infant cohorts are essential to understand how epigenetic modifications relate to early developmental trajectories and emergence of ASD symptoms. We present a proof-of-principle study designed to evaluate the potential of prospective epigenetic studies of infant siblings of children with ASD.Illumina genome-wide 450 K DNA methylation data from buccal swabs was generated for 63 male infants at multiple time-points from 8 months to 2 years of age (total N = 107 samples). 11 of those infants received a diagnosis of ASD at 3 years. We conducted a series of analyses to characterize DNA methylation signatures associated with categorical outcome and neurocognitive measures from parent-report questionnaire, eye-tracking and electro-encephalography.Effects observed across the entire genome (epigenome-wide association analyses) suggest that collecting DNA methylation samples within infant-sibling designs allows for the detection of meaningful signals with smaller sample sizes than previously estimated. Mapping networks of co-methylated probes associated with neural correlates of social attention implicated enrichment of pathways involved in brain development. Longitudinal modelling found covariation between phenotypic traits and DNA methylation levels in the proximity of genes previously associated with cognitive development, although larger samples and more complete datasets are needed to obtain generalizable results.In conclusion, assessment of DNA methylation profiles at multiple time-points in infant-sibling designs is a promising avenue to comprehend developmental origins and mechanisms of ASD.     

Empathy and the responsiveness to social affordances

The direct perception theory of empathy claims that we can immediately experience a person’s state of mind. I can see for instance that my neighbour is angry with me in his bodily countenance. I develop a version of the direct perception theory of empathy which takes this perceptual capacity to depend upon recognising in what way the other person is responsive to the affordances the environment provides. By recognising which possibilities for action are relevant to a person, I can thereby understand something about the meaning they give to the world. I come to share something of their perspective on the world, and this allows me to grasp based on my perception of them something about their current state of mind. I argue that shared affect plays a central role in this perceptual capacity. Shared affect allows me to orient my attention to possibilities for action that matter to the other person. I end by briefly discuss the implications of this view of empathy for the disturbances in so-called “cognitive empathy” that are found in people diagnosed with autism spectrum disorder.     

Ethical Advocacy Across the Autism Spectrum: Beyond Partial Representation

Abstract

Recent debates within the autism advocacy community have raised difficult questions about who can credibly act as a representative of a particular population and what responsibilities that role entails. We attempt to answer these questions by defending a set of evaluative criteria that can be used to assess the legitimacy of advocacy organizations and other nonelectoral representatives. With these criteria in hand, we identify a form of misrepresentation common but not unique to autism advocacy, which we refer to as partial representation. Partial representation occurs when an actor claims to represent a particular group of people but appropriately engages with only a subset of that group. After highlighting symbolic and substantive harms associated with partial representation, we propose several strategies for overcoming it.     

Metacognition of agency and theory of mind in adults with high functioning autism

We investigated metacognition of agency in adults with high functioning autism or Asperger Syndrome (HFA/AS) using a computer task in which participants moved the mouse to get the cursor to touch the downward moving X’s and avoid the O’s. They were then asked to make judgments of performance and judgments of agency. Objective control was either undistorted, or distorted by adding turbulence (i.e., random noise) or a time Lag between the mouse and cursor movements. Participants with HFA/AS used sensorimotor cues available in the turbulence and lag conditions to a lesser extent than control participants in making their judgments of agency. Furthermore, the failure to use these internal diagnostic cues to their own agency was correlated with decrements in a theory of mind task. These findings suggest that a reduced sensitivity to veridical internal cues about the sense of agency is related to mentalizing impairments in autism.     

What is the relationship between Aphantasia,Synaesthesia and Autism?

For people with aphantasia, visual imagery is absent or markedly impaired. Here, we investigated the relationship between aphantasia and two other neurodevelopmental conditions also linked to imagery differences: synaesthesia, and autism. In Experiment 1a and 1b, we asked whether aphantasia and synaesthesia can co-occur, an important question given that synaesthesia is linked to strong imagery. Taking grapheme-colour synaesthesia as a test case, we found that synaesthesia can be objectively diagnosed in aphantasics, suggesting visual imagery is not necessary for synaesthesia to occur. However, aphantasia influenced the type of synaesthesia experienced (favouring ‘associator’ over ‘projector’ synaesthesia - a distinction tied to the phenomenology of the synaesthetic experience). In Experiment 2, we asked whether aphantasics have traits associated with autism, an important question given that autism – like aphantasia – is linked to weak imagery. We found that aphantasics reported more autistic traits than controls, with weaknesses in imagination and social skills.     

Having both hands on the steering wheel: Driving behaviour of white-collar workers with degenerative eye conditions

Because people in the United States are highly reliant on cars for transportation, individuals with restricted driving abilities face severe accessibility constraints in the labour market. Guided by the social exclusion framework, we used a qualitative approach to gain insights into the role of car driving and alternative commute modes in the lives of white-collar workers with degenerative eye conditions. The study participants gradually restricted their driving behaviour as the disease progressed. They also exhibited several types of commute solutions, which lent themselves to a variation in the experienced degree of exclusion (both between participants and within participants over time), with changes in vision state and available resources. Another aim of our study was to identify the motivations for driving behaviour. The results showed that while a desire to reduce the risk of an accident motivated the participants to stop driving, certain normative (for men) and practical considerations motivated participants to continue driving. While all of the participants eventually stopped driving due to vision decline, the decision to quit often occurred only after the participants experienced one or more car accidents. Workplace accessibility is a factor that hinders labour market participation of individuals with degenerative eye conditions and encourages individuals to engage in risky behaviour.     

Developmental links between executive function and emotion regulation in early toddlerhood

Developmental associations between poor executive function (EF) and problem behaviors in toddlerhood indicate that the interplay between cognition and affect begins very early in life (Hughes, Devine, Mesman, & Blair, 2020). However, very few longitudinal studies of toddlers have included direct measures of both EF and emotion regulation (ER). In addition, while models of ER highlight the importance of situational contexts (e.g., Miller, McDonough, Rosenblum, Sameroff, 2005), existing work is limited by a heavy reliance on lab-based observations of mother-child dyads. Addressing these twin gaps, the current study of 197 families included video-based ratings of ER in toddlers’ dyadic play with both mothers and fathers at each of two time-points (14- and 24-months), with parallel measures of EF being gathered in each home visit. Our cross-lagged analyses showed that EF at 14 months predicted ER at 24 months, but this association was limited to observations of toddlers with mothers. It was also asymmetric: ER at 14 months did not predict EF at 24 months. These findings support co-regulation models of early ER and highlight the predictive utility of very early individual differences in EF.     

情绪主题绘本阅读对自闭症谱系障碍儿童情绪理解障碍的干预效果

本研究选取一名15岁的重度自闭症谱系障碍儿童为研究对象，采用眼动追踪技术考察其情绪主题绘本阅读的眼动特征，并制定情绪主题绘本阅读方案，对该儿童的情绪理解障碍进行干预。结果显示：（1）在干预前，这名儿童阅读情绪主题绘本时更加关注背景区域，而较少注意主角形象区域，在整体画面中最后关注甚至忽视主角表情这一重要信息。（2）通过情绪主题绘本阅读干预，这名儿童对主角表情的首次注视前时间减少，注意分配时间和注视次数显著增加；情绪理解能力也显著提高。