Autism Spectrum Disorder Behaviors Research Articles

Disentangling Restrictive and Repetitive Behaviors and Social Impairments in Children and Adolescents with Gilles de la Tourette Syndrome and Autism Spectrum Disorder.

Gilles de la Tourette syndrome (GTS) and autism spectrum disorder (ASD) are two neurodevelopmental disorders with male predominance, frequently comorbid, that share clinical and behavioral features. The incidence of ASD in patients affected by GTS was reported to be between 2.9% and 22.8%. We hypothesized that higher ASD rates among children affected by GTS previously reported may be due to difficulty in discriminating GTS sub-phenotypes from ASD, and the higher scores in the restrictive and repetitive behaviors in particular may represent at least a “false comorbidity”. We studied a large population of 720 children and adolescents affected by GTS (n = 400) and ASD (n = 320), recruited from a single center. Patients were all assessed with The Yale Global Tic Severity Rating Scale (YGTSS), The Autism Diagnostic Observation Schedule (ADOS), The Autism Diagnostic Interview Revised (ADI-R), The Children’s Yale–Brown Obsessive–Compulsive Scale (CY-BOCS), and The Children’s Yale–Brown Obsessive–Compulsive Scale for autism spectrum disorder (CY-BOCS ASD). Our results showed statistically significant differences in ADOS scores for social aspects between GTS with comorbid attention deficit hyperactivity disorder (ADHD) and obsessive–compulsive disorder (OCD) sub-phenotypes and ASD. No differences were present when we compared GTS with comorbid ASD sub-phenotype to ASD, while repetitive and restrictive behavior scores in ASD did not present statistical differences in the comparison with GTS and comorbid OCD and ASD sub-phenotypes. We also showed that CY-BOCS ASD could be a useful instrument to correctly identify OCD from ASD symptoms.

Autistic traits and social skills in Chinese college students: Mediating roles of adult attachment styles and empathy

Autistic traits (ATs) are considered a set of primary symptoms of autism spectrum disorders (ASD) and are postulated to be continuously distributed in the general population. Prior findings suggest that impairment of social skills results in interpersonal difficulties in ASDs. However, there are few studies examining the possible negative effects of ATs on social skills in the general population and the specific mechanism. The current study explored the influence of ATs on social skills and the mediating role of adult attachment styles and multimodal empathy. The results showed that ATs reduced social skills directly and indirectly through complex mediation by adult attachment styles and multimodal empathy. The findings revealed the internal mechanism by which ATs impede social skills, and expands our understanding of social behaviour in ASD and ATs in the general population. Furthermore, the results have implications for social skills interventions for individuals with ASD and those with high levels of ATs.

Early Restoration of Shank3 Expression in Shank3 Knock-Out Mice Prevents Core ASD-Like Behavioral Phenotypes.

Several genes are associated with increased risk for autism spectrum disorder (ASD), neurodevelopmental disorders that present with repetitive movements and restricted interests along with deficits in social interaction/communication. While genetic alterations associated with ASD are present early in life, ASD-like behaviors are difficult to detect in early infancy. This raises the issue of whether reversal of an ASD-associated genetic alteration early in life can prevent the onset of ASD-like behaviors. Genetic alterations of SHANK3, a well-characterized gene encoding a postsynaptic scaffolding protein, are estimated to contribute to ∼0.5% of ASD and remain one of the more replicated and well-characterized genetic defects in ASD. Here, we investigate whether early genetic reversal of a Shank3 mutation can prevent the onset of ASD-like behaviors in a mouse model. Previously, we have demonstrated that mice deficient in Shank3 display a wide range of behavioral abnormalities such as repetitive grooming, social deficits, anxiety, and motor abnormalities. In this study, we replicate many of these behaviors in Shank3 mutant mice. With early genetic restoration of wild-type (WT) Shank3, we rescue behaviors including repetitive grooming and social, locomotor, and rearing deficits. Our findings support the idea that the underlying mechanisms involving ASD behaviors in mice deficient in Shank3 are susceptible to early genetic correction of Shank3 mutations.

Examining suicide risk in individuals with autism spectrum disorder via the interpersonal theory of suicide: clinical insights and recommendations

ABSTRACT Suicide-related behaviors are over-represented among youth with autism spectrum disorder (ASD). A more thorough understanding of the connections between ASD and suicide-related behaviors may help to identify potential avenues for prevention efforts and can inform clinical care for youth with ASD. This manuscript presents a conceptualization of suicide risk among youth with ASD based on the Interpersonal Theory of Suicide, in order to spur discussion and future research. This manuscript also provides preliminary clinical recommendations for improving suicide prevention efforts among youth with ASD based on hypothesized risk and protective factors.

The effect of dialectical behaviour therapy in autism spectrum patients with suicidality and/ or self-destructive behaviour (DIASS): study protocol for a multicentre randomised controlled trial

BackgroundMany persons with autism spectrum disorder (ASD) are treated in long-term specialised care. In this population, suicidal behaviour troubles patients, families, and specialists in the field because it is difficult to treat. At present, there is no documented effective therapy for suicidal behaviour in ASD (Autism Research 7:507-521, 2014; Crisis 35:301-309, 2014). Dialectical Behaviour Therapy (DBT) is an efficacious treatment programme for chronically suicidal and/or self-harm behaviour in patients with Borderline Personality Disorder (J Psychiatry 166:1365-1374, 2014; Linehan MM. Cognitive behavioural therapy of borderline personality disorder. 1993). This study will evaluate the efficacy of DBT in persons with ASD and suicidal/ self- destructive behaviour in a multicentre randomised controlled clinical trial.MethodOne hundred twenty-eight persons with autism and suicidal and/or self-harming behaviour will be recruited from specialised mental healthcare services and randomised into two conditions: 1) the DBT condition in which the participants have weekly individual cognitive behavioural therapy sessions and a 2.5 h skills training group session twice per week during 6 months, and 2) the treatment as usual condition which consists of weekly individual therapy sessions of 30–45 min with a psychotherapist or social worker. Assessments will take place at baseline, at post-treatment (6 months), and after a follow-up period of 12 months. The mediators will also be assessed at 3 months. The primary outcome is the level of suicidal ideation and behaviour. The secondary outcomes are anxiety and social performance, depression, core symptoms of ASD, quality of life, and cost-utility. Emotion regulation and therapeutic alliance are hypothesised to mediate the effects on the primary outcome.DiscussionThe results from this study will provide an evaluation of the efficacy of DBT treatment in persons with ASD on suicidal and self-harming behaviour. The study is conducted in routine mental health services which enhances the generalisability of the study results to clinical practice.Trial registrationISRCTN96632579. Registered 1 May 2019. Retrospectively registered.

Feasibility of Group Parent Training for Children with Autism Spectrum Disorder and Disruptive Behavior: A Demonstration Pilot.

Delivery of interventions in a group format is a potential solution to limited access to specialized services for children with autism spectrum disorder (ASD). We conducted an open feasibility trial of group-based RUBI parent training in 18 children (mean age 6.12 ± 1.95years) with ASD and disruptive behaviors. Parents participated in one of five groups (3 to 4 parents per group). Eighty-three percent of participants completed the 24-week trial. Session attendance was moderate (74.2%). All parents indicated that they would recommend the treatment. Therapists demonstrated 98.8% fidelity to the manual. Eleven of 18 (64.7%) participants were rated as much/very much improved by an independent evaluator at Week 24. Preliminary efficacy findings justify further study.

Families under pressure: stress and quality of life in parents of children with an intellectual disability.

To evaluate stress and quality of life in parents of children with an intellectual disability (moderate-severe-profound), who attend a Child and Adolescent Mental Health Intellectual Disability Service (CAMHS ID), and to estimate the perceived levels of challenging behaviour and satisfaction with supports. Data from children attending the service from 2014 to 2017, along with clinician and parent rating scales were collected. Most children had medical comorbidities, autism spectrum disorder (ASD), and challenging behaviours. Half had a diagnosis of a mental health disorder. Less than half received respite care. Challenging behaviours and ASD were found to be correlated with increased parental stress while perception of support was inversely correlated with stress. Intellectual disability, ASD, and parental stress were correlated with a decrease in perceived family quality of life. This study concurs with previous studies, outlining that parents of children with intellectual disability, in particular, where there is a diagnosis of comorbid ASD and challenging behaviour, experience increased psychological distress and lower quality of life.

Cerebral organoid and mouse models reveal a RAB39b-PI3K-mTOR pathway-dependent dysregulation of cortical development leading to macrocephaly/autism phenotypes.

Dysregulation of early neurodevelopment is implicated in macrocephaly/autism disorders. However, the mechanism underlying this dysregulation, particularly in human cells, remains poorly understood. Mutations in the small GTPase gene RAB39b are associated with X-linked macrocephaly, autism spectrum disorder (ASD), and intellectual disability. The in vivo roles of RAB39b in the brain remain unknown. We generated Rab39b knockout (KO) mice and found that they exhibited cortical neurogenesis impairment, macrocephaly, and hallmark ASD behaviors, which resembled patient phenotypes. We also produced mutant human cerebral organoids that were substantially enlarged due to the overproliferation and impaired differentiation of neural progenitor cells (NPCs), which resemble neurodevelopmental deficits in KO mice. Mechanistic studies reveal that RAB39b interacts with PI3K components and its deletion promotes PI3K-AKT-mTOR signaling in NPCs of mouse cortex and cerebral organoids. The mTOR activity is robustly enhanced in mutant outer radial glia cells (oRGs), a subtype of NPCs barely detectable in rodents but abundant in human brains. Inhibition of AKT signaling rescued enlarged organoid sizes and NPC overproliferation caused by RAB39b mutations. Therefore, RAB39b mutation promotes PI3K-AKT-mTOR activity and alters cortical neurogenesis, leading to macrocephaly and autistic-like behaviors. Our studies provide new insights into neurodevelopmental dysregulation and common pathways associated with ASD across species.

Brief Report: Genetic Links Between Autism and Suicidal Behavior-A Preliminary Investigation.

Evidence suggests there may be increased risk for suicidal behavior among individuals with autism spectrum disorder (ASD). An emerging body of research explores social factors that may contribute to increased risk, however little is known about the potential role of biological factors. The current project addresses this knowledge gap through a preliminary study of genes associated with both ASD and suicidal behavior. Gene set enrichment tests of eight genes strongly associated with both ASD and suicidal behavior revealed overrepresentation of nine biological processes, including cognition and synapse function, and 14 cellular components, including the neuron, the synapse, and the synaptic and postsynaptic membrane. These results can be used to inform future investigations of the biological underpinnings of suicidal behavior and ASD.

ASD, OCD and violence – a forensic case study

Purpose The purpose of this paper is to illustrate the formulation and psychological treatment of a complex case whereby a combination of autism spectrum disorder (ASD) and obsessive compulsive disorder (OCD) has resulted in violent and aggressive behaviour. Design/methodology/approach This paper provides a brief summary of literature in relation to ASD, OCD and risk-offending behaviour followed by a case study of a man (referred to as “John”) with a diagnosis of ASD and OCD who has an extensive history of institutional violence and aggressive behaviour. Findings This paper highlights the complexity of a case that may support research suggesting that impaired theory of mind, poor emotional regulation and problems with moral reasoning increase the risk of an individual with ASD engaging in violence, in addition to a comorbidity of ASD and OCD resulting in a more severe and treatment-resistant form of OCD. Originality/value This paper highlights the challenges faced when working with a patient with Asperger’s syndrome and OCD with entrenched beliefs that lead to the use of violence as a compulsion to temporarily overcome unpleasant thoughts related to low self-esteem.

Subcortical structural covariance in young children with autism spectrum disorder

Abnormalities in the structure of subcortical regions are central to numerous behaviors affected by autism spectrum disorder (ASD), and these regions may undergo atypical coordinated neurodevelopment. However, relatively little is known about morphological correlations among subcortical structures in young children with ASD. In this study, using volumetric-based methodology and structural covariance approach, we investigated structural covariance of subcortical brain volume in 40 young children with ASD (<7.5 years old) and 38 age-, gender-, and handedness-matched typically developing (TD) children. Results showed that compared with TD children, children with ASD exhibited decreased structural covariation between the left and right cerebral hemispheres, specifically between the left and right thalami, right globus pallidus and left nucleus accumbens, and left globus pallidus and right nucleus accumbens. Compared with TD children, children with ASD exhibited increased structural covariation between adjacent regions, such as between the right globus pallidus and right putamen. Additionally, abnormalities in subcortical structural covariance can predict social communication and repetitive and stereotypic behavior in young children with ASD. Overall, these results suggest decreased long-range structural covariation and enhanced local covariation in subcortical structures in children with ASD, highlighting aberrant developmental coordination or synchronized maturation between subcortical regions that play crucial roles in social cognition and behavior in ASD.

Psychological adaptation in children with autism spectrum disorder and its effect on family quality of life

In most children with autism spectrum disorder (ASD), other difficulties that do not fall within the diagnostic criteria arose, and could have an impact on family quality of life. Previous research has shown several relationships among these variables and family quality of life, however results are contradictories. To examine the role of psychological adaptation (including emotional symptoms, behavioral problems, hyperactivity, problems with peers, and prosocial behavior) in children with ASD and typical development, and its impact on family quality of life. Twenty-four families of children with ASD (level 1 of support) and 25 families of children with typical development between 6 and 13 years old. We have considered diagnosis of Asperger syndrome (following DSM-IV-TR) with ASD-level 1 of support (following DSM-5). We have evaluated intelligence, vocabulary, adaptive behavior, and family quality of life. We have found significant differences in those variables related to psychological adaptation, and in some components of the family quality of life (family interaction, physical and emotional wellbeing). In our regression model, prosocial behaviors and the group were the main predictors of satisfaction on family quality of life. It is important to pay attention to the prosocial behaviors in ASD due to its potential protective effect.

Rs1007893 and rs2070435 in DIP2A are associated with visual-reaction-behavior phenotype in Chinese Han population with autism spectrum disorder

BackgroundThe disco-interacting protein 2 homolog A gene (DIP2A) has been reported as a novel candidate gene of Autism spectrum disorder (ASD). Associations between single nucleotide polymorphisms (SNPs) and ASD behavior phenotypes provide an opportunity to timely treat an infant with potential ASD by earlier intervention targeting a specific behavior phenotype. MethodsThe association of SNPs (rs8130538, rs1007893, rs34736293, rs7279002, rs2070435, rs2255397, rs1107065,rs2248636) of DIP2A with both ASD susceptibility and ASD behaviour phenotypes were investigated in Chinese Han population using a case- control study on the basis of 231 ASD cases and 242 controls. ResultsThe allele frequencies and genotype distributions of the eight SNPs of DIP2A in the cases were not different from those in the controls; the eight DIP2A SNPs were not associated with ASD risk under the five geneticmodels; and haplotypes were not different between the cases and the controls ConclusionsWe identified that rs1007893 and rs2070435 in DIP2A are associated with "visual reaction" behavior phenotype in Chinese Han population.

IoT based assistive companion for hypersensitive individuals (ACHI) with autism spectrum disorder.

Today, most of the individuals with Autism Spectrum Disorders (ASD) have atypical sensory behaviors. The main aim of this study is to propose an assistive intervention for supporting the overloaded sensory responses in hypersensitive individuals with ASD. The vision, auditory, smell, and physical balance related multi-sensors based hardware prototype, namely Assistive Companion for Hypersensitive Individuals (ACHI) has been designed for individuals with ASD. The proposed ACHI prototype is an assistive-technology based companion for hypersensitive individuals with ASD which is able to 'fetch/detect the sensory information using electronic sensors', 'making the decision using fuzzy logic on the basis of fetched sensory information' and then, 'transmit the generated information over the internet through the Internet of Things (IoT)', and also able for 'generating alerts to caregivers'. The proposed design is also capable of providing audio & video feedback to calm down individuals with ASD. After testing, it is observed that 93% percent of the caregivers rated the proposed ACHI intervention on the scale of above average. The remarkable reduction in hyperactive states related triggering incidents in ASD has been found with the use of ACHI. The present work and the proposed prototype can identify and control the sensory overload triggers in ASD and it can guide the caregiver or clinicians to optimize the responsible surrounding causes of explosive behavior in ASD and would help the individuals with ASD to become calm.

The development of the Sensory Processing, Aberrant Mealtime Behavior, Motor Inventory for Eating (SAMIE) in children with an ASD

Purpose The purpose of this paper is to develop a comprehensive eating screening inventory named the Sensory Processing, Aberrant Mealtime Behaviors, Motor, Inventory for Eating (SAMIE). The SAMIE will accurately screen nutritional risk by identifying the four primary domains that affect eating in children with autism spectrum disorder (ASD). Design/methodology/approach The development of the questions was executed in three steps. First, a review of the literature was conducted. Second, expert opinion was acquired which was critical in developing the questions. Third, ten think-aloud protocols were set up to simplify the first draft. Prior to the pilot study, four participants were recruited to complete the SAMIE online. Findings A total of 162 participants completed the online demographic questionnaire and the SAMIE. Overall, participants did not differ between groups for demographic characteristics, BMI status and dietary intake. After conducting a series of statistical tests, results illustrated that the SAMIE is a valid measure to screen nutritional risk in children with ASD. Practical implications Due to the complexities of problematic eating behaviors in ASD, there is a need for a comprehensive screening inventory that encompasses the four domains that impact eating in an ASD. These domains have been identified as, namely, aberrant mealtime behavior, eating skills, dietary intake, and sensory processing and have yet to be utilized collectively to screen for nutritional risk in children with ASD. Originality/value The SAMIE is a novel eating screening inventory that will standardize the methodology for screening nutritional risk that can be used in clinical, community and research settings.

Behaviors Characteristic of Autism Spectrum Disorder in a Geriatric Cohort With Mild Cognitive Impairment or Early Dementia.

Autism spectrum disorder (ASD) represents a heterogenous cluster of clinical phenotypes that are classically diagnosed by the time of adolescence. The possibility of late-life emergence of ASD has been poorly explored. To more fully characterize the possibility of late-life emergence of behaviors characteristic of ASD in mild cognitive impairment and AD, we surveyed caregivers of 142 older persons with cognitive impairment from the University of Kentucky Alzheimer's Disease Center Longitudinal Cohort using the Gilliam Autism Rating Scale-2. Participants with high autism index ratings (autism "possible/very likely," n=23) reported significantly (statistically and clinically) younger age at the onset of cognitive impairment than those who scored in the autism "unlikely" range (n=119): 71.14±10.9 vs. 76.65±8.25 (P=0.034). In addition, those in the autism "possible/very likely" group demonstrated advanced severity of cognitive impairment, indicated by the Clinical Dementia Rating Scale Sum of Boxes scores. Data demonstrate that ASD behaviors may seem de novo of degenerative dementia and such behaviors are more prevalent in those with early onset dementia. Further work elucidating a connection between ASD and dementia could shed light on subclinical forms of ASD, identify areas of shared neuroanatomic involvement between ASD and dementias, and provide valuable insights that might hasten the development of therapeutic strategies.

Theory of Robot Mind: False Belief Attribution to Social Robots in Children With and Without Autism.

This study aims to probe how children with and without autism spectrum disorders (ASD) attribute false belief to a social robot and predict its action accordingly. Twenty 5- to 7-year-old children with ASD and 20 age- and IQ-matched typically developing (TD) children participated in two false belief tasks adapted for robot settings (change-of-location task and the unexpected-contents task). The results showed that most TD children are capable of attributing false belief to the social robot, that is, they could infer higher level mental states in robots, which extends our understanding in TD children’s perception and cognition on social robots. Conversely, children with ASD still show difficulty in interpreting robots’ mental states compared to their TD peers, which would greatly interfere with their interactions and communications with social robots and might impact on efficiency of robot-based intervention and education approaches. This group difference in attributing false belief to social robots could not be explained by the different perception and categorization of the robot. Our study implies that although children with ASD appear to be highly attracted by social robots, they still have difficulty in understanding mental states when socially interacting with robots, which should be taken into consideration when designing the robot-based intervention approach targeting to improve social behaviors of ASD.

ASD Phenotype-Genotype Associations in Concordant and Discordant Monozygotic and Dizygotic Twins Stratified by Severity of Autistic Traits.

Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental disorder characterized by impaired social communication coupled with stereotyped behaviors and restricted interests. Despite the high concordance rate for diagnosis, there is little information on the magnitude of genetic contributions to specific ASD behaviors. Using behavioral/trait severity scores from the Autism Diagnostic Interview-Revised (ADI-R) diagnostic instrument, we compared the phenotypic profiles of mono- and dizygotic twins where both co-twins were diagnosed with ASD or only one twin had a diagnosis. The trait distribution profiles across the respective twin populations were first used for quantitative trait association analyses using publicly available genome-wide genotyping data. Trait-associated single nucleotide polymorphisms (SNPs) were then used for case-control association analyses, in which cases were defined as individuals in the lowest (Q1) and highest (Q4) quartiles of the severity distribution curves for each trait. While all of the ASD-diagnosed twins exhibited similar trait severity profiles, the non-autistic dizygotic twins exhibited significantly lower ADI-R item scores than the non-autistic monozygotic twins. Case-control association analyses of twins stratified by trait severity revealed statistically significant SNPs with odds ratios that clearly distinguished individuals in Q4 from those in Q1. While the level of shared genomic variation is a strong determinant of the severity of autistic traits in the discordant non-autistic twins, the similarity of trait profiles in the concordantly autistic dizygotic twins also suggests a role for environmental influences. Stratification of cases by trait severity resulted in the identification of statistically significant SNPs located near genes over-represented within autism gene datasets.

Targeting Peripheral Somatosensory Neurons to Improve Tactile-Related Phenotypes in ASD Models.

Somatosensory over-reactivity is common among patients with autism spectrum disorders (ASDs) and is hypothesized to contribute to core ASD behaviors. However, effective treatments for sensory over-reactivityand ASDs are lacking. We found distinct somatosensoryneuron pathophysiological mechanisms underlie tactile abnormalities in different ASD mouse models and contribute to some ASD-related behaviors. Developmental loss of ASD-associated genes Shank3 or Mecp2 in peripheral mechanosensory neurons leads to region-specific brain abnormalities, revealing links between developmental somatosensory over-reactivity and the genesis of aberrant behaviors. Moreover, acute treatment with a peripherally restricted GABAA receptor agonist that acts directly on mechanosensory neurons reduced tactile over-reactivity in six distinct ASD models. Chronic treatment of Mecp2 and Shank3 mutant mice improved body condition, some brain abnormalities, anxiety-like behaviors, and some social impairments but not memory impairments, motor deficits, or overgrooming. Our findings reveal a potential therapeutic strategy targeting peripheral mechanosensory neurons to treat tactile over-reactivity and select ASD-related behaviors.

A Comparison Between Multiple and Single Presentation of Social Stories for Children with Autism Spectrum Disorder

Individuals with Autism Spectrum Disorder (ASD) may exhibit social interaction and communication problems and demonstrate limited and repetitive behaviors. Individuals affected by this complex neurodevelopmental disorder can require different educational arrangements from those of typically developed individuals when developing communication skills, self-care skills, and other daily living skills. Many interventions have been developed for individuals with ASD to acquire social skills and other independent living skills. Social stories represent one of these treatments. The purpose of this research was to determine whether the single and multiple presentations of social story interventions in teaching individuals with ASD behaviors differed in terms of effectiveness and efficiency. The adapted alternating treatments design was used in this research, whose participants were composed of four boys between 9 and 17 years old who had been diagnosed with ASD. The dependent variables of this research were the acquisition level of skills of expressing thanks and participating in the invited activity. The study’s independent variables were the single social story intervention, which involved writing and presenting one story for one target behavior, and the multiple social story intervention, which included writing and presenting more than one story for one target behavior. According to the findings regarding effectiveness, all four participants learned the skills of expressing thanks and participating in the invited activity through single and multiple social story intervention at a level that met the criteria. All participants were observed to demonstrate the skills that were acquired in both interventions and generalized them to the other situations. No difference was determined in terms of follow-up and generalization. When the findings of the two instructional interventions were compared, it was observed that the results didn’t recur consistently for all participants. For two participants, it was determined that the single social story intervention was more efficient, while the multiple social story intervention was more efficient for one participant. For the other participants, two instructional interventions were found to be equally efficient. In this study, data about social validity were gathered from participants, their parents, and their teachers. The findings regarding social validity showed that the participants, their parents, and their teachers expressed positive opinions about the study.