Abstract Autism Spectrum Disorder Research Articles

Ilex kudingcha C.J. Tseng Mitigates Phenotypic Characteristics of Human Autism Spectrum Disorders in a Drosophila Melanogaster Rugose Mutant.

Autism spectrum disorders (ASD) have heterogeneous etiologies involving dysfunction of central nervous systems, for which no effective pan-specific treatments are available. Ilex kudingcha (IK) C.J. Tseng is a nootropic botanical used in Asia for neuroprotection and improvement of cognition. This study establishes that a chemically characterized extract from IK (IKE) mitigates behavioral traits in the Drosophila melanogaster rugose mutant, whose traits resemble human ASD, and examines possible mechanisms. IKE treatment significantly ameliorated deficits in social interaction, short-term memory, and locomotor activity in Drosophila rugose, and significantly increased synaptic bouton number of size more than 2 μm2 in the neuromuscular junctions (NMJs) of Drosophila rugose. To clarify mechanism(s) of IKE action, methylphenidate (MPH), a dopamine transporter inhibitor, was included as a reference drug in the behavioral assays: MPH significantly improved social interaction and short-term memory deficit in Drosophila rugose; administration of the dopamine D1 receptor antagonist SCH23390 and dopamine D2 receptor antagonist sulpiride reversed the ameliorative effects of both MPH and IKE on the social interaction deficits of Drosophila rugose. To extend analysis of IKE treatment to the vertebrate central nervous system, ASD-associated gene expression in mouse hippocampus was studied by RNA-seq: IKE treatment altered the expression of genes coding phosphoinositide 3-kinases/protein kinase B (PI3K-Akt), proteins in glutamatergic, dopaminergic, serotonergic, and GABAergic synapses, cAMP response element-binding protein (CREB), and RNA transporter proteins. These results provide a foundation for further analysis of IKE as a candidate for treatment of some forms of ASD.

Identifying and Understanding Anxiety in Youth with ASD: Parent and School Provider Perspectives on Anxiety within Public School Settings

ABSTRACT Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that is characterized by difficulties with social-communication and the presence of restricted and repetitive patterns of interest. It is well documented that children with ASD often experience co-occurring psychiatric difficulties, including anxiety. In fact, it is estimated that between 40 and 79% of children and adolescents with ASD experience at least one anxiety disorder. This range in prevalence is likely due to differences in study sample size and recruitment practices (e.g., community versus clinical samples), in the use of screening measures with reduced sensitivity to detect anxiety in ASD, in sample characteristics (e.g., child’s IQ, language skills), as well as differences in the presentation of anxiety in ASD. Anxiety disorders in youth with ASD can significantly interfere with functioning across school, home, and community settings, and anxiety related difficulties are thought to exacerbate core ASD symptoms, including increased avoidance and ritualistic/restricted behaviors. Within school settings specifically, anxiety may negatively impact class attendance and engagement, academic achievement, and peer relationships. Thus, learning more about anxiety difficulties at school can inform the development of school-based mental health interventions for students with ASD. Identifying anxiety within school settings can also facilitate appropriate selection of students with ASD experiencing anxiety, thereby fostering the academic and mental health functioning in these students.

Local Processing Bias Impacts Implicit and Explicit Memory in Autism.

Autism spectrum disorder (ASD) is characterized by atypical perception, including processing that is biased toward local details rather than global configurations. This bias may impact on memory. The present study examined the effect of this perception on both implicit (Experiment 1) and explicit (Experiment 2) memory in conditions that promote either local or global processing. The first experiment consisted of an object identification priming task using two distinct encoding conditions: one favoring local processing (Local condition) and the other favoring global processing (Global condition) of drawings. The second experiment focused on episodic (explicit) memory with two different cartoon recognition tasks that favored either local (i.e., processing specific details) or a global processing (i.e., processing each cartoon as a whole). In addition, all the participants underwent a general clinical cognitive assessment aimed at documenting their cognitive profile and enabling correlational analyses with experimental memory tasks. Seventeen participants with ASD and 17 typically developing (TD) controls aged from 10 to 16 years participated to the first experiment and 13 ASD matched with 13 TD participants were included for the second experiment. Experiment 1 confirmed the preservation of priming effects in ASD but, unlike the Comparison group, the ASD group did not increase his performance as controls after a globally oriented processing. Experiment 2 revealed that local processing led to difficulties in discriminating lures from targets in a recognition task when both lures and targets shared common details. The correlation analysis revealed that these difficulties were associated with processing speed and inhibition. These preliminary results suggest that natural perceptual processes oriented toward local information in ASD may impact upon their implicit memory by preventing globally oriented processing in time-limited conditions and induce confusion between explicit memories that share common details.

Treatment of Major Depressive Disorder with Autism Spectrum Disorder by Acceptance and Commitment Therapy Matrix

Autism spectrum disorder (ASD) is known to increase a variety of psychiatric disorders, including major depressive disorder (MDD). Acceptance and commitment therapy (ACT) has been reported to be an effective psychotherapy for MDD. However, this is not the case with ASD. In this case study, based on the hypothesis that it is effective in treating MDD with ASD, we adapted the ACT Matrix, a tool for visualizing an individual's experiences in the context of ACT, and administered 15 sessions to a woman with MDD with ASD following the onset of photo dermatosis. By the end of the final session, there was an increase in value-based behaviors and significant changes in depressive symptoms as well as significant changes in process measures such as experience avoidance, mindfulness, and progress toward a valued life. Six months after the end of the session, the improvement in symptoms was even stronger and the process measure of obstruction to a valued life was significantly improved. The ACT Matrix may thus ameliorate MDD in patients with ASD.

Association Between Gestational Exposure to Toxicants and Autistic Behaviors Using Bayesian Quantile Regression.

Autism spectrum disorder, which is characterized by impaired social communication and stereotypic behaviors, affects 1%-2% of children. Although prenatal exposure to toxicants has been associated with autistic behaviors, most studies have been focused on shifts in mean behavior scores. We used Bayesian quantile regression to assess the associations between log2-transformed toxicant concentrations and autistic behaviors across the distribution of behaviors. We used data from the Maternal-Infant Research on Environmental Chemicals study, a pan-Canadian cohort (2008-2011). We measured metal, pesticide, polychlorinated biphenyl, phthalate, bisphenol-A, and triclosan concentrations in blood or urine samples collected during the first trimester of pregnancy. Using the Social Responsiveness Scale (SRS), in which higher scores denote more autistic-like behaviors, autistic behaviors were assessed in 478 children aged 3-4 years old. Lead, cadmium, and most phthalate metabolites were associated with mild increases in SRS scores at the 90th percentile of the SRS distribution. Manganese and some pesticides were associated with mild decreases in SRS scores at the 90th percentile of the SRS distribution. We identified several monotonic trends in which associations increased in magnitude from the bottom to the top of the SRS distribution. These results suggest that quantile regression can reveal nuanced relationships and, thus, should be more widely used by epidemiologists.

Expression analysis of selected genes involved in tryptophan metabolic pathways in Egyptian children with Autism Spectrum Disorder and learning disabilities

Autism Spectrum Disorder (ASD) and learning disabilities are neurodevelopmental disabilities characterized by dramatically increasing incidence rates, yet the exact etiology for these disabilities is not identified. Impairment in tryptophan metabolism has been suggested to participate in the pathogenesis of ASD, however, further validation of its involvement is required. Additionally, its role in learning disabilities is still uninvestigated. Our objective was to evaluate some aspects of tryptophan metabolism in ASD children (N = 45) compared to children with learning disabilities (N = 44) and healthy controls (N = 40) by measuring the expression levels of the MAOA, HAAO and AADAT genes using real-time RT-qPCR. We also aimed to correlate the expression patterns of these genes with parental ages at the time of childbirth, levels of serum iron, and vitamin D3 and zinc/copper ratio, as possible risk factors for ASD. Results demonstrated a significant decrease in the expression of the selected genes within ASD children (p < 0.001) relative to children with learning disabilities and healthy controls, which significantly associated with the levels of our targeted risk factors (p < 0.05) and negatively correlated to ASD scoring (p < 0.001). In conclusion, this study suggests that the expression of the MAOA, HAAO and AADAT genes may underpin the pathophysiology of ASD.

Atypical Resting-State Functional Connectivity of Intra/Inter-Sensory Networks Is Related to Symptom Severity in Young Boys With Autism Spectrum Disorder.

Autism spectrum disorder (ASD) has been reported to have altered brain connectivity patterns in sensory networks, assessed using resting-state functional magnetic imaging (rs-fMRI). However, the results have been inconsistent. Herein, we aimed to systematically explore the interaction between brain sensory networks in 3–7-year-old boys with ASD (N = 29) using independent component analysis (ICA). Participants were matched for age, head motion, and handedness in the MRI scanner. We estimated the between-group differences in spatial patterns of the sensory resting-state networks (RSNs). Subsequently, the time series of each RSN were extracted from each participant’s preprocessed data and associated estimates of interaction strength between intra- and internetwork functional connectivity (FC) and symptom severity in children with ASD. The auditory network (AN), higher visual network (HVN), primary visual network (PVN), and sensorimotor network (SMN) were identified. Relative to TDs, individuals with ASD showed increased FC in the AN and SMN, respectively. Higher positive connectivity between the PVN and HVN in the ASD group was shown. The strength of such connections was associated with symptom severity. The current study might suggest that the abnormal connectivity patterns of the sensory network regions may underlie impaired higher-order multisensory integration in ASD children, and be associated with social impairments.

Trial by trial EEG based BCI for distress versus non distress classification in individuals with ASD

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is often accompanied by impaired emotion regulation (ER). There has been increasing emphasis on developing evidence-based approaches to improve ER in ASD. Electroencephalography (EEG) has shown success in reducing ASD symptoms when used in neurofeedback-based interventions. Also, certain EEG components are associated with ER. Our overarching goal is to develop a technology that will use EEG to monitor real-time changes in ER and perform intervention based on these changes. As a first step, an EEG-based brain computer interface that is based on an Affective Posner task was developed to identify patterns associated with ER on a single trial basis, and EEG data collected from 21 individuals with ASD. Accordingly, our aim in this study is to investigate EEG features that could differentiate between distress and non-distress conditions. Specifically, we investigate if the EEG time-locked to the visual feedback presentation could be used to classify between WIN (non-distress) and LOSE (distress) conditions in a game with deception. Results showed that the extracted EEG features could differentiate between WIN and LOSE conditions (average accuracy of 81%), LOSE and rest-EEG conditions (average accuracy 94.8%), and WIN and rest-EEG conditions (average accuracy 94.9%).

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

Autism 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.

Acupuncture and oxytocinergic system: The promising treatment for autism.

Autism spectrum disorder (ASD) is a group of heterogeneous neurodevelopmental disorders characterized by impairments activities without efficient pharmacological therapies in social interaction, speech and stereotypic patterns. Clinical studies have shown the efficacy of acupuncture as an alternative therapy for autism. The effectiveness of acupuncture as an alternative treatment for autism has been demonstrated through clinical trials. However, the molecular mechanisms that underlie these effects remain unclear. Due to its profound pro-social, anxiolytic, stress management effects, and its potential use for the treatment of psychiatric disorders associated with altered socioemotional competence, oxytocin (OT) released from the hypothalamus has attracted considerable interest. In the past decade, a number of clinical and animal studies have shown that OT administration effectively reduces core symptoms of ASD, especially social behavior deficits. Recently, the endocannabinoid system has emerged as a promising target for the treatment of autism. OT was found to facilitate the endocannabinoid-mediated social reward processes in the nucleus accumbens of the mouse brain. Furthermore, serotonin and dopamine are involved in the reward response mediated by OT. In view of these findings, we conclude that acupuncture may produce therapeutic effects on autism by triggering the hypothalamic oxytocin system, which in turn activates the release of neurotransmitters such as endocannabinoids, dopamine and serotonin. This would be a valuable guide for further research on the mechanism of treatment of autism with acupuncture.

The Effectiveness of Mirroring- and Rhythm-Based Interventions for Children with Autism Spectrum Disorder: a Systematic Review

Autism Spectrum Disorder (ASD) is characterised as a neurodevelopmental disorder that has continuing deficits in communication skills and social development. Utilising techniques known as mirroring and rhythm, Dance and Movement Therapy (DMT) has shown beneficial effects in the autistic population reducing such deficits. However, no review to date has investigated these individual techniques outside the practice of DMT. This systematic review of studies published between 1975 and 2020 aims to evaluate the effectiveness of both mirroring and rhythm as interventions that target communication skills and social development in children diagnosed with ASD. Out of 1369 relevant articles, 11 met the inclusion criteria. All studies showed beneficial effects of mirroring and rhythm for communication skills and social development in children diagnosed with ASD. Therefore, incorporating these techniques into new interventions and practice may offer substantial therapeutic benefits for autistic children.

Prevention in Autism Spectrum Disorder: A Lifelong Focused Approach.

Autism Spectrum Disorder (ASD) is a complex highly heritable disorder, in which multiple environmental factors interact with the genes to increase its risk and lead to variable clinical presentations and outcomes. Furthermore, the inherent fundamental deficits of ASD in social attention and interaction critically diverge children from the typical pathways of learning, “creating” what we perceive as autism syndrome during the first three years of life. Later in life, training and education, the presence and management of comorbidities, as well as social and vocational support throughout the lifespan, will define the quality of life and the adaptation of an individual with ASD. Given the overall burden of ASD, prevention strategies seem like a cost-effective endeavour that we have to explore. In this paper, we take a life course approach to prevention. We will review the possibilities of the management of risk factors from preconception until the perinatal period, that of early intervention in the first three years of life and that of effective training and support from childhood until adulthood.

Autism spectrum disorder in veterinary clients: how the practice can help

Autism spectrum disorder (ASD) is a neurodevelopmental disability affecting 1–2% of the population. Common characteristics include social anxieties, attachment to predictable routines and sensitivities to sensory stimuli. Certain traits of ASD contribute to excellent pet ownership, yet veterinary practice visits can be a source of considerable stress. This article outlines the legal responsibilities practices have to provide equal access to services and suggests a range of ways to meet these obligations. Home visits with a trusted member of the clinical team are recommended as one of the best methods for inclusion. A range of inexpensive and easy considerations are presented. The role of assistance dogs is discussed including animal welfare implications of which veterinary professionals should be aware.

Traumatismo dentário em crianças com transtorno do espectro autista: um olhar no período de pandemia

Autism Spectrum Disorder (ASD) is a change in neurodevelopment, which mainly compromises social interaction and language. The neuropsychological and sensory specificities found in children with ASD explain the great behavioral disorganization in the pandemic period. The main objective of the present study is to describe the prevalence of the exacerbated increase in dental trauma in children with Autism Spectrum Disorder (ASD) in pandemic period by Covid-19, due to behavioral changes triggered by an unexpected break in their routines. They are patients who may have impairment in executive functions, related to the individual’s ability to engage in voluntary actions, with little flexibility and who needs a planned and life-oriented routine. It is clear that the need for predictability and routine is something remarkable for patients with ASD.

Genetic mechanism of ASD-related monogenetic diseases

Autism spectrum disorder (ASD) is a series of neurodevelopmental disorders presented as behavioral abnormality such as problems with social, communication, and repetitive behaviors. There are four ASD-related monogenetic diseases worthy of analysis: fragile X syndrome, PTEN hamartoma tumor syndrome, tuberous sclerosis complex, and Rett syndrome. These four monogenetic diseases are respectively caused by one gene and have something in common in phenotype while also have their unique features. All of them have been related to the same pathway: phosphatidylinositol 3-phosphate kinase (PI3K) / protein kinase B (PKB or Akt) / mammalian target of rapamycin (mTOR) signaling pathway, which plays a primary role in many physiological processes on a cellular level. Nowadays, there is no cure for these monogenetic diseases, thus much remains to be done to find ways to treat patients with the diseases mentioned above.

Cortical Gyrification Morphology in Individuals with ASD and ADHD across the Lifespan: A Systematic Review and Meta-Analysis.

Autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD) are common neurodevelopmental disorders (NDDs) that may impact brain maturation. A number of studies have examined cortical gyrification morphology in both NDDs. Here we review and when possible pool their results to better understand the shared and potentially disorder-specific gyrification features. We searched MEDLINE, PsycINFO, and EMBASE databases, and 24 and 10 studies met the criteria to be included in the systematic review and meta-analysis portions, respectively. Meta-analysis of local Gyrification Index (lGI) findings across ASD studies was conducted with SDM software adapted for surface-based morphometry studies. Meta-regressions were used to explore effects of age, sex, and sample size on gyrification differences. There were no significant differences in gyrification across groups. Qualitative synthesis of remaining ASD studies highlighted heterogeneity in findings. Large-scale ADHD studies reported no differences in gyrification between cases and controls suggesting that, similar to ASD, there is currently no evidence of differences in gyrification morphology compared with controls. Larger, longitudinal studies are needed to further clarify the effects of age, sex, and IQ on cortical gyrification in these NDDs.

Role of Environment, Nutrition, Microbiota, Mammalian Target of Rapamycin and Dietary Supplements in Autism

Autism Spectrum Disorder (ASD) is a developmental disorder with the age of onset under 3 years old. It is characterized by definite impairments in social interactions, speech abnormalities, and stereotyped patterns of behaviors. Although the exact pathology and etiology of ASD are not fully elucidated, exposure to environmental toxins, micronutrients deficiency, dysbiosis and mutation in genes of mammalian target of rapamycin (mTOR) signaling pathway are emerging as risk factors for ASD. Maternal exposure to heavy metals, air pollutants, and pesticides markedly increases the risk of ASD. Many clinical and experimental trials documented that gastrointestinal symptoms and disturbances of the gut microbiota usually accompanied cerebral disorders in autistic patients. Furthermore, studies showed that gene mutations causing hyperactivation of mTOR significantly lead to autistic symptoms. Pharmacological and nutritional interventions revealed a significant improvement in autistic individuals. The use of dietary supplements and the elimination diets exhibit minor or no adverse effects as compared to conventional drugs. In this review article, we tried to summarize some of the etiological factors that predispose to autism. We discussed the possible mechanisms that potentiate autistic symptoms by such factors. Also, we focused on the role of interventions either by various dietary supplements or by elimination diets in the management of autism.

Tính giá trị và độ tin cậy của thang đo kiến thức, thái độ về rối loạn tự kỷ của người chăm sóc trẻ tại hai tỉnh Hòa Bình và Thái Bình, Việt Nam

Autism Spectrum Disorder (ASD) is a range of developmental disabilities, that can cause significant social, communication and behavioral challenges. This study was conducted in 2017 in order to develop and validate a scale to measure knowledge and attitudes toward child autism spectrum disorder among child caregivers. We interviewed 193 child caregivers in 2 northern provinces of Vietnam, namely Hoa Binh and Thai Binh. Exploratory Factor Analysis (EFA) and Cronbach’s alpha coefficient were used to determine validity and reliability of our scale. Findings indicated that our scale on knowledge, including 13 items distributed into 3 factors with relatively good correlation (0.58-0.79), could explain 82.5% of variability of knowledge. The scale on attitudes consisted of 6 questions, explained 52.8% of variability in attitudes and had a good Cronbach’s alpha of 0.76. The results demonstrated that our scale has satisfactory validity and reliability, thus, could be used to measure knowledge and attitudes towards child ASD among child caregivers. Key words: scale, autism spectrum disorder (ASD), validity, reliability, child caregivers, Vietnam

Behaviors Characteristic of Autism Spectrum Disorder in Older Adults With Cognitive Impairment

Autism spectrum disorder (ASD) is commonly recognized by the time of adolescence, but is poorly understood in older adults. The possibility of late-life emergence of ASD has been poorly explored. In order to investigate late-life emergence of behaviors characteristic of ASD in MCI and AD, we surveyed caregivers of 142 older adults with neurodegenerative cognitive impairment 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 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). Additionally, those in Autism ‘Possible/Very Likely’ group demonstrated advanced severity of cognitive impairment, indicated by Clinical Dementia Rating Scale Sum of Boxes scores. Data demonstrate that ASD behaviors may appear 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.

Autistic Communication and Imagination Sub-Traits Are Related to Audiovisual Temporal Integration in the Stream-Bounce Illusion.

Autism spectrum disorder (ASD) is characterized by atypical social communication and restricted and repetitive behaviors; such traits are continuously distributed across nonclinical and clinical populations. Recently, relationships between ASD traits and low-level multisensory processing have been investigated, because atypical sensory reactivity has been regarded as a diagnostic criterion of ASD. Studies regarding an audiovisual illusion (the double-flash illusion) reported that social communication difficulties are related to temporal aspects of audiovisual integration. This study investigated whether similar relationships exist in another audiovisual illusion (the stream-bounce effect). In this illusion, two visual objects move toward each other, coincide, and pass each other, and the presentation of a transient sound at their coincidence induces a dominant perception that they bounce away from each other. Typically developing adults were recruited to perform experimental trials involving the stream-bounce effect. We measured their ASD traits using the Autism-Spectrum Quotient. The total quotient score was not related to any behavioral measurements of the effect. In contrast, for participants with higher difficulty in communication, the greatest magnitude of the stream-bounce effect occurred when the presentation timing of the sound tended to follow the visual coincidence. Participants with higher difficulty in imagination also showed the greatest magnitude of the effect when the presentation timing of the sound preceded that of the visual coincidence. Our findings regarding the stream-bounce effect, along with previous findings regarding the double-flash illusion, suggest that atypical temporal audiovisual integration is uniquely related to ASD sub-traits, especially in social communication.