scholarly journals Imbalanced social-communicative and restricted repetitive behavior subtypes of autism spectrum disorder exhibit different neural circuitry

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Natasha Bertelsen ◽  
◽  
Isotta Landi ◽  
Richard A. I. Bethlehem ◽  
Jakob Seidlitz ◽  
...  
Keyword(s):  
Repetitive Behavior ◽  
Resting State Fmri ◽  
Neural Circuitry ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Typically Developing ◽  
Out Of Sample ◽  
Genetic Mechanisms ◽  
Social Communicative ◽  
The Eu

AbstractSocial-communication (SC) and restricted repetitive behaviors (RRB) are autism diagnostic symptom domains. SC and RRB severity can markedly differ within and between individuals and may be underpinned by different neural circuitry and genetic mechanisms. Modeling SC-RRB balance could help identify how neural circuitry and genetic mechanisms map onto such phenotypic heterogeneity. Here, we developed a phenotypic stratification model that makes highly accurate (97–99%) out-of-sample SC = RRB, SC > RRB, and RRB > SC subtype predictions. Applying this model to resting state fMRI data from the EU-AIMS LEAP dataset (n = 509), we find that while the phenotypic subtypes share many commonalities in terms of intrinsic functional connectivity, they also show replicable differences within some networks compared to a typically-developing group (TD). Specifically, the somatomotor network is hypoconnected with perisylvian circuitry in SC > RRB and visual association circuitry in SC = RRB. The SC = RRB subtype show hyperconnectivity between medial motor and anterior salience circuitry. Genes that are highly expressed within these networks show a differential enrichment pattern with known autism-associated genes, indicating that such circuits are affected by differing autism-associated genomic mechanisms. These results suggest that SC-RRB imbalance subtypes share many commonalities, but also express subtle differences in functional neural circuitry and the genomic underpinnings behind such circuitry.

scholarly journals Differential neural circuitry behind autism subtypes with imbalanced social-communicative and restricted repetitive behavior symptoms

2020 ◽  
Author(s):  
Natasha Bertelsen ◽  
Isotta Landi ◽  
Richard A. I. Bethlehem ◽  
Jakob Seidlitz ◽  
Elena Maria Busuoli ◽  
...  
Keyword(s):  
Social Communication ◽  
Repetitive Behavior ◽  
Resting State Fmri ◽  
Neural Circuitry ◽  
Repetitive Behaviors ◽  
Typically Developing ◽  
Out Of Sample ◽  
Genetic Mechanisms ◽  
Social Communicative ◽  
The Eu

AbstractSocial-communication (SC) and restricted repetitive behaviors (RRB) are autism diagnostic symptom domains. SC and RRB severity can markedly differ within and between individuals and may be underpinned by different neural circuitry and genetic mechanisms. Modeling SC-RRB balance could help identify how neural circuitry and genetic mechanisms map onto such phenotypic heterogeneity. Here we developed a phenotypic stratification model that makes highly accurate (97-99%) out-of-sample SC=RRB, SC>RRB, and RRB>SC subtype predictions. Applying this model to resting state fMRI data from the EU-AIMS LEAP dataset (n=509), we find that while the phenotypic subtypes share many commonalities in terms of intrinsic functional connectivity, they also show subtype-specific qualitative differences compared to a typically-developing group (TD). Specifically, the somatomotor network is hypoconnected with perisylvian circuitry in SC>RRB and visual association circuitry in SC=RRB. The SC=RRB subtype also showed hyperconnectivity between medial motor and anterior salience circuitry. Genes that are highly expressed within these subtype-specific networks show a differential enrichment pattern with known ASD associated genes, indicating that such circuits are affected by differing autism-associated genomic mechanisms. These results suggest that SC-RRB imbalance subtypes share some commonalities but also express subtle differences in functional neural circuitry and the genomic underpinnings behind such circuitry.

Rigidity coincides with reduced cognitive control to affective cues in children with autism

2018 ◽  
Author(s):  
Dienke J. Bos ◽  
Melanie R. Silverman ◽  
Eliana L. Ajodan ◽  
Cynthia Martin ◽  
Benjamin Silver ◽  
...  
Keyword(s):  
Cognitive Control ◽  
Repetitive Behavior ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
False Alarms ◽  
Typically Developing ◽  
Insistence On Sameness ◽  
Typically Developing Children ◽  
Children With Asd ◽  
Affective Cues

The present study tested whether salient affective cues would negatively influence cognitive control in children with and without autism spectrum disorder (ASD). 100 children aged 6-12 years who were either typically developing or had ASD performed a novel go/nogo task to cues of their interest versus cues of non-interest. Using Linear Mixed-Effects models group differences in hit rate, false alarms and d-prime were tested. Caregivers completed the Repetitive Behavior Scale - Revised (RBS-R) to test associations between repetitive behaviors and task performance. Children with ASD had reduced cognitive control towards their interests compared to typically developing children. Further, children with ASD showed reduced cognitive control to interests as compared to their own non-interests, a pattern not observed in typically developing children. Decreased cognitive control towards interests was associated with higher insistence on sameness behavior in ASD, but there was no association between sameness behavior and cognitive control for non-interests. Together, children with ASD demonstrated decreased cognitive flexibility in the context of increased affective salience related to interests. These results provide a mechanism for how salient affective cues, such as interests, interfere with daily functioning and social communication in ASD. Further, the findings have broader clinical implications for understanding how affective cues can drive interactions between restricted patterns of behavior and cognitive control.

scholarly journals Sex-dependent role for EPHB2 in brain development and autism-associated behavior

2021 ◽  
Author(s):  
Ahlem Assali ◽  
Jennifer Y. Cho ◽  
Evgeny Tsvetkov ◽  
Abha R. Gupta ◽  
Christopher W. Cowan
Keyword(s):  
Pyramidal Neurons ◽  
De Novo ◽  
Repetitive Behavior ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Male Mice ◽  
Sensory Sensitivity ◽  
Hyperactivity Disorder ◽  
Specific Effects ◽  
Layer V

AbstractAutism spectrum disorder (ASD) is characterized by impairments in social communication and interaction and restricted, repetitive behaviors. It is frequently associated with comorbidities, such as attention-deficit hyperactivity disorder, altered sensory sensitivity, and intellectual disability. A de novo nonsense mutation in EPHB2 (Q857X) was discovered in a female patient with ASD [13], revealing EPHB2 as a candidate ASD risk gene. EPHB2 is a receptor tyrosine kinase implicated in axon guidance, synaptogenesis, and synaptic plasticity, positioning it as a plausible contributor to the pathophysiology of ASD and related disorders. In this study, we show that the Q857X mutation produced a truncated protein lacking forward signaling and that global disruption of one EphB2 allele (EphB2+/−) in mice produced several behavioral phenotypes reminiscent of ASD and common associated symptoms. EphB2+/− female, but not male, mice displayed increased repetitive behavior, motor hyperactivity, and learning and memory deficits, revealing sex-specific effects of EPHB2 hypofunction. Moreover, we observed a significant increase in the intrinsic excitability, but not excitatory/inhibitory ratio, of motor cortex layer V pyramidal neurons in EphB2+/− female, but not male, mice, suggesting a possible mechanism by which EPHB2 hypofunction may contribute to sex-specific motor-related phenotypes. Together, our findings suggest that EPHB2 hypofunction, particularly in females, is sufficient to produce ASD-associated behaviors and altered cortical functions in mice.

Differentiating Autism Spectrum Disorder and OCD

2017 ◽  
Author(s):  
Robert E. Accordino ◽  
Philip Bartel ◽  
Isobel W. Green ◽  
Christen L. Kidd ◽  
Christopher J. McDougle
Keyword(s):  
Autism Spectrum Disorder ◽  
Autistic Traits ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Obsessive Compulsive ◽  
Communicative Behavior ◽  
Compulsive Disorder ◽  
Communication Difficulties ◽  
Social Communicative

This chapter explores the overlapping clinical presentation and shared genetics and neurobiology of autism spectrum disorder (ASD) and obsessive-compulsive disorder (OCD). ASD often presents with repetitive behaviors reminiscent of OCD, whereas OCD, at times, can include autistic traits involving social and communication difficulties. This can lead to difficult diagnostic distinctions, which can at times have relevance to treatment. The distinction between compulsions and autistic stereotypies merits particular discussion. Clinical features that should lead to exploration of a diagnosis of ASD include stereotypies such as hand flapping, body rocking or twirling; fixed interests or preoccupations that are ego-syntonic; and impaired social-communicative behavior.

scholarly journals Delineating Repetitive Behavior Profiles across the Lifespan in Fragile X Syndrome

2020 ◽  
Vol 10 (4) ◽  
pp. 239
Author(s):  
Debra L. Reisinger ◽  
Rebecca C. Shaffer ◽  
Nicole Tartaglia ◽  
Elizabeth Berry-Kravis ◽  
Craig A. Erickson
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Repetitive Behavior ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Motor Behaviors ◽  
Sensory Motor ◽  
Adolescents And Adults ◽  
Males And Females ◽  
The Impact

Restricted repetitive behaviors (RRBs) are a core area of impairment in autism spectrum disorder (ASD), but also affect several other neurodevelopmental disorders including fragile X syndrome (FXS). Current literature has begun to describe the RRB profile in FXS up through adolescence; however, little is known about the subtypes of RRBs in adolescents and adults. Further, literature on the RRB profile of females with FXS is limited. The present study examines the RRB profile across subtypes and specific items in both males and females with FXS while assessing for differences based on age, ASD diagnosis and the impact of IQ. Participants included 154 individuals with FXS (ages 2 to 50 years old). Results revealed a peak in RRB severity in FXS between 7–12 years for the majority of RRB subscales with the exception of Sensory-Motor behaviors peaking between 2 and 12 years before declining. Distinct RRB profiles in males and females with FXS emerged in addition to significant overlap among the item and subscale levels of RRBs across gender. Further, an added diagnosis of ASD significantly increased rates of RRBs across all subscale levels, but not necessarily across all items. Lastly, IQ did not solely account for the presence of RRBs in FXS, with Sensory-Motor behaviors being driven by comorbid ASD in males with FXS, and Restricted Interest behaviors being driven by comorbid ASD regardless of gender. These findings build on the current understanding of RRBs in FXS based on gender and comorbid ASD and lay important groundwork for the development of targeted behavioral and pharmacological treatments.

scholarly journals Physical Activity and Physical Fitness of School-Aged Children and Youth with Autism Spectrum Disorders

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Kiley Tyler ◽  
Megan MacDonald ◽  
Kristi Menear
Keyword(s):  
Physical Activity ◽  
Physical Fitness ◽  
Handgrip Strength ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Typically Developing ◽  
Physically Active ◽  
School Aged Children ◽  
Children With Asd ◽  
Group Effects

Autism spectrum disorder (ASD) is characterized by impairments in social communication deficits and the presence of restricted and repetitive behaviors, interests, or activities. Literature comparing the physical activity and fitness of children with ASD to typically developing peers is in need of attention. The purpose of this investigation was to examine the physical activity and fitness of school-aged children with ASD (N=17) in comparison to typically developing peers (N=12). Participants with ASD completed diagnostic and developmental assessments and a series of physical fitness assessments: 20-meter multistage shuttle, sit-and-reach test, handgrip strength, and body mass index. Physical activity was measured using accelerometry and preestablished cut-points of physical activity (Freedson et al., 2005). MANCOVA revealed significant between-group effects in strength (P=.03), while ANCOVA revealed significant between-group effects in sedentary (P=.00), light (P=.00), moderate (P=.00), and total moderate-to-vigorous (P=.01) physical activity. Children with ASD are less physically active and fit than typically developing peers. Adapted physical activity programs are one avenue with intervention potential to combat these lower levels of physical activity and fitness found in children with ASD.

scholarly journals Overlapping symptoms in Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorders: more similarities than differences

2020 ◽  
Author(s):  
Dienke J. Bos ◽  
Daniella Dobos ◽  
Bob Oranje ◽  
Sarah Durston
Keyword(s):  
Autism Spectrum Disorder ◽  
Attention Deficit ◽  
Latent Profile Analysis ◽  
Profile Analysis ◽  
Repetitive Behavior ◽  
Autism Spectrum ◽  
Typically Developing ◽  
Adhd Symptoms ◽  
Children With Asd ◽  
Restricted And Repetitive Behavior

Background: While Autism Spectrum Disorder (ASD) and Attention Deficit/Hyperactivity Disorder (ADHD) may intuitively seem to be on the extremes of a single spectrum (ranging from impulsive to rigid), symptoms of ASD and ADHD often co-occur in the same children. This study aimed to provide an in-depth characterization of ADHD and ASD symptoms in children with and without ASD and/or ADHD using questionnaire data. Methods: In total, we included 702 symptom measurements from 484 children aged between 6 and 18 years with ADHD (N=155), ASD (N=141), or typically developing (N=188) and analyzed these using linear mixed-effects models. We used latent-profile analysis (LPA) to investigate patterns of comorbid ADHD and ASD symptoms. Results: The present study investigated restricted and repetitive behavior and symptoms of ADHD across a large sample of children with ASD and/or ADHD, compared to typically developing peers. We found that children with comorbid ASD and ADHD had the most severe symptoms that persisted over development. Children with a primary ADHD diagnosis had elevated levels of restricted and repetitive behavior, and children with ASD also had symptoms of ADHD. Latent profile analysis (LPA) further suggested that patterns of symptom comorbidity are not specific to diagnostic categories.Conclusions: We found severe and persistent ASD and ADHD symptoms in children with comorbid ASD and ADHD. Children with a single diagnosis of ASD or ADHD had more moderate symptoms that improved with age. Furthermore, children with ASD had elevated ADHD symptoms, and vice versa, suggesting that symptoms are not specific to diagnostic categories.

scholarly journals Shifted Phase of EEG Cross-Frequency Coupling in Individuals with Phelan-McDermid Syndrome

2020 ◽  
Author(s):  
Michael G Mariscal ◽  
Elizabeth Berry-Kravis ◽  
Joseph D Buxbaum ◽  
Lauren E Ethridge ◽  
Rajna Filip-Dhima ◽  
...  
Keyword(s):  
Repetitive Behavior ◽  
Rare Condition ◽  
Autism Spectrum ◽  
Typically Developing ◽  
Compulsive Behaviors ◽  
Oscillatory Power ◽  
Phase Bias ◽  
Frequency Coupling ◽  
Phase Amplitude ◽  
Cross Frequency Coupling

Abstract Background Phelan-McDermid Syndrome (PMS) is a rare condition caused by deletion or mutation of the SHANK3 gene. Individuals with PMS frequently present with intellectual disability, symptoms of autism spectrum disorder (ASD), and other neurodevelopmental challenges. Electroencephalography (EEG) can provide a window into network-level function in PMS. Methods Here, we analyze EEG data collected across multiple sites in individuals with PMS (n = 26) and typically developing individuals (n = 15). We quantify oscillatory power, phase-amplitude coupling strength, and phase bias, a measure of the phase of cross frequency coupling thought to reflect the balance of feedforward and feedback activity. Results We find individuals with PMS display increased phase bias (U = 3.841, p < 0.0005), predominantly over posterior electrodes. Most individuals with PMS demonstrate positive overall phase bias while most typically developing individuals demonstrate negative overall phase bias. Among individuals with PMS, strength of phase-amplitude coupling was associated with Sameness, Ritualistic, and Compulsive behaviors as measured by the Repetitive Behavior Scales-Revised (Beta= 0.545, p= 0.011). Conclusions Increased phase bias suggests potential circuit-level mechanisms underlying phenotype in PMS, offering opportunities for back-translation of findings into animal models and targeting in clinical trials.

scholarly journals Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Michael. G. Mariscal ◽  
◽  
Elizabeth Berry-Kravis ◽  
Joseph D. Buxbaum ◽  
Lauren E. Ethridge ◽  
...  
Keyword(s):  
Repetitive Behavior ◽  
Rare Condition ◽  
Autism Spectrum ◽  
Gamma Phase ◽  
Typically Developing ◽  
Compulsive Behaviors ◽  
Phase Bias ◽  
Frequency Coupling ◽  
Phase Amplitude ◽  
Cross Frequency Coupling

Abstract Background Phelan-McDermid Syndrome (PMS) is a rare condition caused by deletion or mutation of the SHANK3 gene. Individuals with PMS frequently present with intellectual disability, autism spectrum disorder, and other neurodevelopmental challenges. Electroencephalography (EEG) can provide a window into network-level function in PMS. Methods Here, we analyze EEG data collected across multiple sites in individuals with PMS (n = 26) and typically developing individuals (n = 15). We quantify oscillatory power, alpha-gamma phase-amplitude coupling strength, and phase bias, a measure of the phase of cross frequency coupling thought to reflect the balance of feedforward (bottom-up) and feedback (top-down) activity. Results We find individuals with PMS display increased alpha-gamma phase bias (U = 3.841, p < 0.0005), predominantly over posterior electrodes. Most individuals with PMS demonstrate positive overall phase bias while most typically developing individuals demonstrate negative overall phase bias. Among individuals with PMS, strength of alpha-gamma phase-amplitude coupling was associated with Sameness, Ritualistic, and Compulsive behaviors as measured by the Repetitive Behavior Scales-Revised (Beta = 0.545, p = 0.011). Conclusions Increased phase bias suggests potential circuit-level mechanisms underlying phenotype in PMS, offering opportunities for back-translation of findings into animal models and targeting in clinical trials.

scholarly journals Exergames for Children and Adolescents with Autism Spectrum Disorder: An Overview

2020 ◽  
Vol 16 (1) ◽  
pp. 1-6 ◽  
Author(s):  
João L. Lima ◽  
Glaciane Axt ◽  
Diogo S. Teixeira ◽  
Diogo Monteiro ◽  
Luis Cid ◽  
...  
Keyword(s):  
Physical Fitness ◽  
Children And Adolescents ◽  
Motor Skills ◽  
Cognitive Functions ◽  
Repetitive Behavior ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Potential Tool ◽  
Adolescents With Asd

Autistic Spectrum Disorder (ASD) is a complex neurodevelopmental disorder associated with various etiologies and characterized by deficits in social interaction, emotional reciprocity, communication, motor skills and cognitive functions. Studies have proposed that limited levels of physical activity and late motor skills and fitness, particularly in children and adolescents with ASD, may accentuate social and emotional deficits. In view of this, exergames, which are active video-games, can be considered a low-cost and safe type of exercise for children and adolescents with ASD, since they are more enjoyable than ordinary physical activities, influencing on treatment adherence. Thus, our study aims to evidence the effects of exergames on physical fitness, cognitive functions, and repetitive behaviors in children and adolescents with ASD. Despite the small number of studies investigating the effects of exergames as new strategy in children and adolescents with ASD, results suggest exergames as potential tool for the treatment of children and adolescents with ASD for improvement in physical fitness, cognitive functions and repetitive behavior. Our review pointed towards the importance of exergames for children and adolescents with ASD. Despite few studies conducted about this issue, we can consider exergames a potential tool to increase physical fitness, cognitive functions and to decrease repetitive behavior in children and adolescents with ASD. Moreover, health professionals should be careful when attempting to help this population, because the current literature is unclear yet about the improvement of ASD features through exergames.

Sign in / Sign up

Export Citation Format

Share Document