scholarly journals Pattern Unifies Autism

2021 ◽  
Vol 12 ◽  
Author(s):  
Bernard Crespi
Keyword(s):  
Social Interactions ◽  
Repetitive Behavior ◽  
Pattern Generation ◽  
Pattern Perception ◽  
Social Deficits ◽  
Restricted Interests ◽  
Heterogeneous Condition ◽  
Pattern Processing ◽  
Recognition Pattern ◽  
Assessment And Treatment

Autism is a highly heterogeneous condition, genetically and phenotypically. This diversity of causation and presentation has impeded its definition, recognition, assessment, and treatment. Current diagnostic criteria for autism involve two domains, restricted interests and repetitive behavior (RRBs) and social deficits, whose relationship remains unclear. I suggest that the large suite of traits associated with autism can be usefully conceptualized under the single rubric of “pattern,” a term that connects autism with basic brain and cognitive functions and structures its phenotypes within a single theoretical framework. Autism thus involves increases and enhancements to pattern perception, pattern recognition, pattern maintenance, pattern generation, pattern processing, and pattern seeking. RRBs result from increased and imbalanced pattern-related perception and cognition, and social alterations result in part from the usual lack of clear pattern in social interactions, combined with the interference of RRBs with social development. This framework has strong implications for assessment of social and non-social autism-related traits, personalized therapy, and priorities for research.

Adaptive Prediction for Social Contexts: The Cerebellar Contribution to Typical and Atypical Social Behaviors

2021 ◽  
Vol 44 (1) ◽  
pp. 475-493
Author(s):  
Catherine J. Stoodley ◽  
Peter T. Tsai
Keyword(s):  
Social Interactions ◽  
Social Communication ◽  
Neural Correlates ◽  
Social Contexts ◽  
Predictive Processing ◽  
Social Deficits ◽  
Cerebellar Dysfunction ◽  
Appropriate Behavior ◽  
Communication Challenges ◽  
And Function

Social interactions involve processes ranging from face recognition to understanding others’ intentions. To guide appropriate behavior in a given context, social interactions rely on accurately predicting the outcomes of one's actions and the thoughts of others. Because social interactions are inherently dynamic, these predictions must be continuously adapted. The neural correlates of social processing have largely focused on emotion, mentalizing, and reward networks, without integration of systems involved in prediction. The cerebellum forms predictive models to calibrate movements and adapt them to changing situations, and cerebellar predictive modeling is thought to extend to nonmotor behaviors. Primary cerebellar dysfunction can produce social deficits, and atypical cerebellar structure and function are reported in autism, which is characterized by social communication challenges and atypical predictive processing. We examine the evidence that cerebellar-mediated predictions and adaptation play important roles in social processes and argue that disruptions in these processes contribute to autism.

scholarly journals Fmr1KO Mice as a Possible Model of Autistic Features

2006 ◽  
Vol 6 ◽  
pp. 1164-1176 ◽  
Author(s):  
Maude Bernardet ◽  
Wim E. Crusio
Keyword(s):  
Social Interactions ◽  
Fragile X Syndrome ◽  
Developmental Disorders ◽  
Developmental Disorder ◽  
Fragile X ◽  
Cellular Level ◽  
Restricted Interests ◽  
Autism Research ◽  
Hereditary Component ◽  
Autistic Symptoms

Autism is a pervasive developmental disorder appearing before the age of 3, where communication and social interactions are impaired. It also entails stereotypic behavior or restricted interests. Although this disorder was first described in 1943, little is still known about its etiology and that of related developmental disorders. Work with human patients has provided many data on neuropathological and cognitive symptoms, but our understanding of the functional defects at the cellular level and how they come about remains sketchy. To improve this situation, autism research is in need of valid animal models. However, despite a strong hereditary component, attempts to identify genes have generally failed, suggesting that many different genes are involved. As a high proportion of patients suffering from the Fragile X Syndrome show many autistic symptoms, a mouse model of this disorder could potentially also serve as a model for autism. TheFmr1KO mouse is a valid model of the Fragile X Syndrome and many data on behavioral and sensory-motor characteristics of this model have been gathered. We present here an assessment of autistic features in this candidate model. We conclude thatFmr1KO mice display several autistic-like features, but more work is needed to validate this model.

scholarly journals An autism-associated mutation in salt inducible kinase 1 causes repetitive behavior and social deficits due to enhanced excitatory neuronal functions in mice.

2021 ◽  
Author(s):  
Moataz Badawi ◽  
Takuma Mori ◽  
Taiga Kurihara ◽  
Takahiro Yoshizawa ◽  
Katsuhiro Nohara ◽  
...  
Keyword(s):  
Synaptic Transmission ◽  
Subcellular Distribution ◽  
Repetitive Behavior ◽  
Epileptic Encephalopathy ◽  
Excitatory Synaptic Transmission ◽  
Electrophysiological Recording ◽  
Social Deficits ◽  
Behavioral Deficits ◽  
Neural Excitability ◽  
Neuronal Functions

Abstract Background:Six mutations in the salt inducible kinase 1 (SIK1) coding gene have been identified in the early infantile epileptic encephalopathy (EIEE-30) patients accompanied by autistic symptoms, such as repetitive behavior and social behavioral deficits. Among these mutations, two are nonsense mutations that truncate the C-terminal region. It has been shown that the C-terminal truncated form of SIK1 protein affects the subcellular distribution of SIK1 protein, tempting to speculate the relevance to the pathophysiology of the disorders.Methods:We generated SIK1 mutant (SIK1-MT) mice recapitulating the C-terminal truncated mutations using CRISPR/Cas9-mediated genome editing. We performed cellular assays to examine the subcellular localization of SIK1-MT. We also performed patch clamp electrophysiological recording and behavioral tests to evaluate the neuronal functions and behaviors in SIK1-MT mice. Pharmacological experiments using risperidone were also performed to examine the potential therapeutics of the disorder.Results:SIK1-MT protein was distributed in the nucleus and cytoplasm, whereas the distribution of wild-type SIK1 was restricted to the nucleus. We found the disruption of excitatory and inhibitory (E/I) synaptic balance due to an increase in excitatory synaptic transmission and enhancement of neural excitability in the pyramidal neurons in layer 5 of the medial prefrontal cortex in SIK1-MT mice. We also found the increased repetitive behavior and social behavioral deficits in SIK1-MT mice. The risperidone administration attenuated the neural excitability and excitatory synaptic transmission, but the disrupted E/I synaptic balance was unchanged because it also reduced the inhibitory synaptic transmission. Risperidone also eliminated the repetitive behavior, but not social behavioral deficits.Limitations:We failed to identify drugs that can cure the social behavioral deficits in this mouse model.Conclusions:In the present study, we generated model mice for EIEE-30 recapitulating C-terminal truncated SIK1 mutation discovered in human patients. We found that the C-terminal deletion of SIK1 affects the subcellular distribution of SIK1, resulting in the elevated excitability of neuronal networks and autistic behaviors in the mutant mice. Repetitive behavior, but not social deficits, was restored by risperidone, probably due to the decrease of both excitatory and inhibitory synaptic functions by the drug.

scholarly journals Social (Pragmatic) Communication Disorder: Another name for the Broad Autism Phenotype?

Autism ◽  
2019 ◽  
Vol 23 (8) ◽  
pp. 1982-1992 ◽  
Author(s):  
Judy Flax ◽  
Christine Gwin ◽  
Sherri Wilson ◽  
Yuli Fradkin ◽  
Steve Buyske ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Social Communication ◽  
Repetitive Behavior ◽  
Family Members ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Communication Disorder ◽  
Restricted Interests ◽  
Communication Impairment ◽  
Pragmatic Communication

The Diagnostic and Statistical Manual of Mental Disorders’ (5th ed.) Social (Pragmatic) Communication Disorder is meant to capture the social elements of communication dysfunction in children who do not meet autism spectrum disorder criteria. It is unclear whether Social (Pragmatic) Communication Disorder captures these elements without overlapping with Autism Spectrum Disorder or the Diagnostic and Statistical Manual of Mental Disorders’ (5th ed.) Language Disorder. Standardized behavioral assessments administered during a family genetics study were used to evaluate the social communication impairment and the restricted interests and repetitive behaviors in persons with autism spectrum disorder, language impairment, or neither. Social communication impairment and restricted interests and repetitive behavior were significantly correlated in all family members regardless of affection status. Rates of social communication impairment and restricted interests and repetitive behavior were highest in individuals with autism spectrum disorder. One-third of family members with language impairment presented with at least mild/moderate levels of social communication impairment (36.6%) and restricted interests and repetitive behavior (43.3%). A subset of unaffected members also presented with mild/moderate levels of social communication impairment (parents = 10.1%, siblings 11.6%) and restricted interests and repetitive behavior (parents = 14.0%, siblings = 22.1%). The majority of child family members with mild/moderate levels of social communication impairment had similar restricted interest and repetitive behavior levels reflecting criteria representing the Broad Autism Phenotype. These data suggest that social pragmatic communication disorder does not capture the profiles of children who have both social communication impairment and restricted interests and repetitive behavior but are in need of clinical services.

Development of a Robotic Motor Skills Assessment System for Children With Autism

2017 ◽  
Author(s):  
Guru Subramani ◽  
Aubrey M. Fisher ◽  
Moria F. Bittmann ◽  
Andrea H. Mason ◽  
Brittany G. Travers ◽  
...  
Keyword(s):  
Social Interactions ◽  
Motor Skills ◽  
Upper Limb ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Assessment System ◽  
Skills Assessment ◽  
Robot Arm ◽  
Restricted Interests

Autism is a developmental disorder characterized by atypical social interactions and repetitive behaviors/restricted interests[1]. It is found that children with autism also experience delayed or impaired motor skills development [2]. It would be advantageous to develop methods that precisely evaluate these motor skills impairments. The use of robots for evaluating upper limb motor competency have been looked at in the stroke literature [3]. We would like to leverage robotic tools for motor skills assessment but with focus for children with autism spectrum disorder. Robotic methodologies provide a unique way of testing upper limb motor skills. For instance, if a person holds on to the end of a robot arm and moves the robot arm in space, the robot can apply forces and prevent or assist the person with these motions. In this fashion, the robot can apply perturbations in a repeatable and precise manner with high fidelity. Since individuals with autism have anxieties interacting with other individuals[4], using an impersonal robot would alleviate the anxiety of social interactions. These individuals learn motor skills best with consistent repetition and strong reinforcement, qualities that robots provide. Therefore, a robot based evaluation strategy and therapy paradigm for children with Autism would be beneficial for the community.

THE USE OF AUGMENTED AND VIRTUAL REALITY IN CHILDREN WITH AUTISM SPECTRUM DISORDER: A BIBLIOGRAPHIC RESEARCH

2021 ◽  
Author(s):  
THAYS GRUBER ◽  
Fabio Evangelista Santana ◽  
Marcio Fontana Catapan
Keyword(s):  
Autism Spectrum Disorder ◽  
Virtual Reality ◽  
Literature Review ◽  
Social Interactions ◽  
Repetitive Behavior ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Narrative Literature ◽  
Narrative Literature Review

Autism Spectrum Disorder (ASD) affects children s neurodevelopment, impairing the ability for social interaction, communication and generating repetitive behavior. The treatment is performed according to specific methods, to practice social interactions, emotions and basic activities of daily living. Augmented Reality (AR) and Virtual Reality (VR) are collaborating as a complement to existing methods practiced by psychologists/therapists. Thus, this research seeks, through literature review, to find out what are the gaps in this theme and to know the applications of AR and VR concerning the treatment of children with ASD at national and international levels. The method chosen was the systematic literature review (SLR) and the narrative literature review. The database used was Scopus, where 39 articles were obtained, revealing a gap due to the low number of results, and finally, after using the filters, 19 articles were analyzed. The result shows great potential for using the technologies mentioned in support of the allowed therapeutic methods, allowing the treatment to evolve more efficiently.

scholarly journals Pathogenetical and Neurophysiological Features of Patients with Autism Spectrum Disorder: Phenomena and Diagnoses

2019 ◽  
Vol 8 (10) ◽  
pp. 1588
Author(s):  
Yunho Jin ◽  
Jeonghyun Choi ◽  
Seunghoon Lee ◽  
Jong Won Kim ◽  
Yonggeun Hong
Keyword(s):  
Autism Spectrum Disorder ◽  
Neural Development ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Social Deficits ◽  
Restricted Interests ◽  
Neuropsychiatric Comorbidities ◽  
The Brain

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is accompanied by social deficits, repetitive and restricted interests, and altered brain development. The majority of ASD patients suffer not only from ASD itself but also from its neuropsychiatric comorbidities. Alterations in brain structure, synaptic development, and misregulation of neuroinflammation are considered risk factors for ASD and neuropsychiatric comorbidities. Electroencephalography has been developed to quantitatively explore effects of these neuronal changes of the brain in ASD. The pineal neurohormone melatonin is able to contribute to neural development. Also, this hormone has an inflammation-regulatory role and acts as a circadian key regulator to normalize sleep. These functions of melatonin may play crucial roles in the alleviation of ASD and its neuropsychiatric comorbidities. In this context, this article focuses on the presumable role of melatonin and suggests that this hormone could be a therapeutic agent for ASD and its related neuropsychiatric disorders.

scholarly journals The Autism Palette: Combinations of Impairments Explain the Heterogeneity in ASD

2020 ◽  
Vol 11 ◽  
Author(s):  
Ábel Fóthi ◽  
Latha Soorya ◽  
András Lőrincz
Keyword(s):  
Strong Association ◽  
Repetitive Behavior ◽  
Autism Spectrum ◽  
Speech Communication ◽  
Compensatory Mechanisms ◽  
Restricted Interests ◽  
Cognitive Framework ◽  
Relevant Variables ◽  
The Many ◽  
Core Symptoms

Autism spectrum disorder (ASD) is a heterogeneous neuropsychiatric condition traditionally defined by core symptoms in social behavior, speech/communication, repetitive behavior, and restricted interests. Beyond the core symptoms, autism has strong association with other disorders such as intellectual disability (ID), epilepsy, schizophrenia among many others. This paper outlines a theory of ASD with capacity to connect heterogeneous “core” symptoms, medical and psychiatric comorbidities as well as other etiological theories of autism in a unifying cognitive framework rooted in neuroscience and genetics. Cognition is embedded into an ever-developing structure modified by experiences, including the outcomes of environment influencing behaviors. The key constraint of cognition is that the brain can handle only 7±2 relevant variables at a time, whereas sensory variables, i.e., the number of sensory neurons is orders of magnitude larger. As a result, (a) the extraction, (b) the encoding, and (c) the capability for the efficient cognitive manipulation of the relevant variables, and (d) the compensatory mechanisms that counteract computational delays of the distributed components are critical. We outline our theoretical model to describe a Cartesian Factor (CF) forming, autoencoder-like cognitive mechanism which breaks combinatorial explosion and is accelerated by internal reinforcing machineries and discuss the neural processes that support CF formation. Impairments in any of these aspects may disrupt learning, cognitive manipulation, decisions on interactions, and execution of decisions. We suggest that social interactions are the most susceptible to combinations of diverse small impairments and can be spoiled in many ways that pile up. Comorbidity is experienced, if any of the many potential impairments is relatively strong. We consider component spoiling impairments as the basic colors of autism, whereas the combinations of individual impairments make the palette of autism. We put forth arguments on the possibility of dissociating the different main elements of the impairments that can appear together. For example, impairments of generalization (domain general learning) and impairments of dealing with many variable problems, such as social situations may appear independently and may mutually enhance their impacts. We also consider mechanisms that may lead to protection.

Sign in / Sign up

Export Citation Format

Share Document