Interpersonal motor synchrony in autism: a systematic review and meta-analysis

IntroductionInterpersonal motor synchrony (IMS) is the spontaneous, voluntary, or instructed coordination of movements between interacting partners. Throughout the life cycle, it shapes social exchanges and interplays with intra- and inter-individual characteristics that may diverge in Autism Spectrum Disorder (ASD). Here we perform a systematic review and meta-analysis to summarize the extant literature and quantify the evidence about reduced IMS in dyads including at least one participant with a diagnosis of ASD. MethodsEmpirical evidence from sixteen experimental studies was systematically reviewed, encompassing spontaneous and instructed paradigms as well as a paucity of measures used to assess IMS. Of these, thirteen studies (n = 512 dyads) contributed measures of IMS with an in situ neurotypical partner (TD) for ASD and control groups, which could be used for meta-analyses. ResultsReduced synchronization in ASD-TD dyads emerged from both the systematic review and meta-analyses, although both small and large effect sizes (i.e., Hedge’s g) in favor of the control group are consistent with the data (Hedge’s g = .85, p < 0.001, 95% CI[.35, 1.35], 95% PI[-.89, 2.60]). DiscussionUncertainty is discussed relative to the type of task, measures, and age range considered in each study. We further discuss that sharing similar experiences of the world might help to synchronize with one another. Future studies should not only assess whether reduced IMS is consistently observed in ASD-TD dyads and how this shapes social exchanges, but also explore whether and how ASD-ASD dyads synchronize during interpersonal exchanges

Phosphatase and tensin homologue/protein kinase B pathway linked to motor neuron survival in human superoxide dismutase 1-related amyotrophic lateral sclerosis

Gene expression profiling has been used previously with spinal cord homogenates and laser capture microdissected motor neurons to determine the mechanisms involved in neurodegeneration in amyotrophic lateral sclerosis. However, while cellular and animal model work has focused on superoxide dismutase 1-related amyotrophic lateral sclerosis, the transcriptional profile of human mutant superoxide dismutase 1 motor neurons has remained undiscovered. The aim of this study was to apply gene expression profiling to laser captured motor neurons from human superoxide dismutase 1-related amyotrophic lateral sclerosis and neurologically normal control cases, in order to determine those pathways dysregulated in human superoxide dismutase 1-related neurodegeneration and to establish potential pathways suitable for therapeutic intervention. Identified targets were then validated in cultured cell models using lentiviral vectors to manipulate the expression of key genes. Microarray analysis identified 1170 differentially expressed genes in spinal cord motor neurons from superoxide dismutase 1-related amyotrophic lateral sclerosis, compared with controls. These genes encoded for proteins in multiple functional categories, including those involved in cell survival and cell death. Further analysis determined that multiple genes involved in the phosphatidylinositol-3 kinase signalling cascade were differentially expressed in motor neurons that survived the disease process. Functional experiments in cultured cells and primary motor neurons demonstrate that manipulating this pathway by reducing the expression of a single upstream target, the negative phosphatidylinositol-3 kinase regulator phosphatase and tensin homology, promotes a marked pro-survival effect. Therefore, these data indicate that proteins in the phosphatidylinositol-3 kinase pathway could represent a target for therapeutic manipulation in motor neuron degeneration

Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

We characterized the role of structural variants, a largely unexplored type of genetic variation, in two non-Alzheimer’s dementias, namely Lewy body dementia (LBD) and frontotemporal dementia (FTD)/amyotrophic lateral sclerosis (ALS). To do this, we applied an advanced structural variant calling pipeline (GATK-SV) to short-read whole-genome sequence data from 5,213 European-ancestry cases and 4,132 controls. We discovered, replicated, and validated a deletion in TPCN1 as a novel risk locus for LBD and detected the known structural variants at the C9orf72 and MAPT loci as associated with FTD/ALS. We also identified rare pathogenic structural variants in both LBD and FTD/ALS. Finally, we assembled a catalog of structural variants that can be mined for new insights into the pathogenesis of these understudied forms of dementia

Multimedia Interventions for Neurodiversity: Leveraging Insights from Developmental Cognitive Neuroscience to Build an Innovative Practice

Multimedia technologies and virtual reality offer unique possibilities to manipulate sensory, motor, interpersonal, and cognitive processes contributing to atypical developmental trajectories, thus holding an explosive potential to design innovative and engaging interventions. However, there has been little progress in developing interventions that go beyond the patient’s diagnosis or the fascination of technology and rather spring from a deep understanding of the specific neuropsychological processes to be nurtured in individuals. This perspective paper outlines how recent insights from developmental cognitive neuroscience can be leveraged to promote children’s multidimensional development and highlight future directions and challenges for innovating both research and clinical practice. Finally, we focus on some practical examples of multimedia and virtual reality activities we have designed to stimulate bodily-self experiences, which are crucial for building up a coherent sense of self and lay the foundation for interacting with the external world. Atypical bodily self is an early marker of heterogeneous neurodevelopmental conditions (such as autism spectrum disorders) and seems to be under-targeted in research and clinical approaches

Agency and reward across development and in autism: a free-choice paradigm.

Data and analysis script of the article "Agency and reward across development and in autism: a free-choice paradigm" https://doi.org/10.1371/journal.pone.028440

Agency and reward across development and in autism: A free-choice paradigm

Our ability to perform voluntary actions and make choices is shaped by the motivation from control over the resulting effects (agency) and from positive outcomes (reward). The underlying action-outcome binding mechanisms rely on sensorimotor abilities that specialise through child development and undergo different trajectories in autism. The study aimed at disentangling the role of agency and reward in driving action selection of autistic and non-autistic children and adults, who were asked to freely select one of three candies and feed the animals appearing on a tablet. The candies were associated with different probabilities of delivering a neutral vs no effect (agency task), or a positive vs neutral effect (reward task). Choices and reaction times (RT) were measured to understand whether participants preferred and were faster at selecting options with higher probability of producing a neutral vs. no effect (agency) or a positive vs. neutral effect (reward). Participants' choices and RT were not affected by agency, whereas a more frequent selection of the option with higher probability of a positive vs. neutral effect emerged across groups, thus suggesting a reward effect. Autistic participants selected less frequently the option with chance level of receiving a neutral or no effect, which could be interpreted as a sign of reduced tolerance of uncertainty. Across tasks, conditions and age groups, autistic participants presented shorter RT, which is a marker of reduced action planning and control. Future research should deepen how tolerance of uncertainty, action planning and control impact the way autistic individuals make choices in everyday life situations, potentially contributing to restricted and repetitive behaviours

Correlations with autistic traits.

Our ability to perform voluntary actions and make choices is shaped by the motivation from control over the resulting effects (agency) and from positive outcomes (reward). The underlying action-outcome binding mechanisms rely on sensorimotor abilities that specialise through child development and undergo different trajectories in autism. The study aimed at disentangling the role of agency and reward in driving action selection of autistic and non-autistic children and adults, who were asked to freely select one of three candies and feed the animals appearing on a tablet. The candies were associated with different probabilities of delivering a neutral vs no effect (agency task), or a positive vs neutral effect (reward task). Choices and reaction times (RT) were measured to understand whether participants preferred and were faster at selecting options with higher probability of producing a neutral vs. no effect (agency) or a positive vs. neutral effect (reward). Participants’ choices and RT were not affected by agency, whereas a more frequent selection of the option with higher probability of a positive vs. neutral effect emerged across groups, thus suggesting a reward effect. Autistic participants selected less frequently the option with chance level of receiving a neutral or no effect, which could be interpreted as a sign of reduced tolerance of uncertainty. Across tasks, conditions and age groups, autistic participants presented shorter RT, which is a marker of reduced action planning and control. Future research should deepen how tolerance of uncertainty, action planning and control impact the way autistic individuals make choices in everyday life situations, potentially contributing to restricted and repetitive behaviours.</div

Motivation from Agency and Reward in Typical Development and Autism: Narrative Review of Behavioral and Neural Evidence

Our ability to perform voluntary actions and make choices is shaped by the motivation from having control over the resulting effects (agency) and positive outcomes (reward). We offer an overview of distinct and common behavioral and neural signatures of agency and reward. We discuss their typical and atypical developmental trajectories, focusing on autism spectrum disorder (ASD), which is characterized by neurodiverse processes underlying action selection. We propose that reduced sensitivity to agency and reward in ASD may be related to atypical multisensory processes and motor planning, with potential for understanding restricted and repetitive behaviors. We emphasize the limitations of the existing literature, and prospects for future research. Understanding the neurocognitive processes that shape the way people with ASD select actions and perceive outcomes is essential to support not only learning, but also volition and self-determination