Understanding Of Autism Spectrum Disorder Research Articles

Community Knowledge about Autism Spectrum Disorder in the Kingdom of Saudi Arabia

Objectives: To explore the knowledge of the general community in Saudi Arabia about autism spectrum disorder. Method: A cross-sectional study was conducted for the period between June and September 2021 in Saudi Arabia using an online questionnaire tool. The questionnaire tool was developed based on a literature review. The questionnaire tool consists of 34 items that assess knowledge about autism spectrum disorder in terms of its etiology, autistic patient features, autistic children’s abilities and needs, and autistic adults’ abilities and needs. The total score for each subscale was used to define the level of knowledge of it. Correct answers were given a score of one, and the total score for each subscale was used to describe the level of knowledge of it. Logistic regression was used to identify predictors of good knowledge about autism spectrum disorder (defined as a total score equal or above the mean score of the study participants). Results: This study enlisted the participation of 500 people. The participants’ overall understanding of autism spectrum disorder was moderate, with a mean score of 20.6 (SD: 5.6) out of 34, or 60.6%. The participants’ knowledge levels ranged from 32.2% to 77.5%. The items about the abilities and needs of adolescents and young people with autism had the highest degree of knowledge (77.5%). The items about autism’s causes had the lowest level of expertise (32.2%). When compared to others, females, those with a master’s degree, and those working in the healthcare field had a higher likelihood of knowing more about the autism spectrum condition. (p ≤ 0.05). Conclusion: Knowledge about autism spectrum disorder in Saudi Arabia is moderate. Social media channels and healthcare centers should be used to conduct educational campaigns for parents. The goal of this educational campaign should be to improve parents’ ability to recognize the causes of autism.

Phenotypic differences between female and male individuals with suspicion of autism spectrum disorder

BackgroundAlthough autism spectrum disorder (ASD) is a common developmental disorder, our knowledge about a behavioral and neurobiological female phenotype is still scarce. As the conceptualization and understanding of ASD are mainly based on the investigation of male individuals, females with ASD may not be adequately identified by routine clinical diagnostics. The present machine learning approach aimed to identify diagnostic information from the Autism Diagnostic Observation Schedule (ADOS) that discriminates best between ASD and non-ASD in females and males.MethodsRandom forests (RF) were used to discover patterns of symptoms in diagnostic data from the ADOS (modules 3 and 4) in 1057 participants with ASD (18.1% female) and 1230 participants with non-ASD (17.9% % female). Predictive performances of reduced feature models were explored and compared between females and males without intellectual disabilities.ResultsReduced feature models relied on considerably fewer features from the ADOS in females compared to males, while still yielding similar classification performance (e.g., sensitivity, specificity).LimitationsAs in previous studies, the current sample of females with ASD is smaller than the male sample and thus, females may still be underrepresented, limiting the statistical power to detect small to moderate effects.ConclusionOur results do not suggest the need for new or altered diagnostic algorithms for females with ASD. Although we identified some phenotypic differences between females and males, the existing diagnostic tools seem to sufficiently capture the core autistic features in both groups.

Use of non‐directive therapy for adolescents with autism spectrum disorder: A systematic review

AbstractIn this review, we systematically explored research on the use of non‐directive therapies with adolescents (aged 11–18 years) with autism spectrum disorder (ASD). N = 12 studies were eligible for inclusion. The findings suggested four therapeutic components which were consistently present across all non‐directive interventions and held similarities with play therapy principles: (a) collaboration between adolescent and therapist; (b) adolescent‐led discussions; (c) reflection and reframing; and (d) encouragement and acceptance of the adolescent as they were. Therapeutic outcomes improved when the therapists had an understanding of ASD in order to tailor the intervention to the individual. Future primary research investigating the applicability of play therapy principles and limitations is discussed.

Constructing local cell-specific networks from single-cell data

Gene coexpression networks yield critical insights into biological processes, and single-cell RNA sequencing provides an opportunity to target inquiries at the cellular level. However, due to the sparsity and heterogeneity of transcript counts, it is challenging to construct accurate gene networks. We develop an approach, locCSN, that estimates cell-specific networks (CSNs) for each cell, preserving information about cellular heterogeneity that is lost with other approaches. LocCSN is based on a nonparametric investigation of the joint distribution of gene expression; hence it can readily detect nonlinear correlations, and it is more robust to distributional challenges. Although individual CSNs are estimated with considerable noise, average CSNs provide stable estimates of networks, which reveal gene communities better than traditional measures. Additionally, we propose downstream analysis methods using CSNs to utilize more fully the information contained within them. Repeated estimates of gene networks facilitate testing for differences in network structure between cell groups. Notably, with this approach, we can identify differential network genes, which typically do not differ in gene expression, but do differ in terms of the coexpression networks. These genes might help explain the etiology of disease. Finally, to further our understanding of autism spectrum disorder, we examine the evolution of gene networks in fetal brain cells and compare the CSNs of cells sampled from case and control subjects to reveal intriguing patterns in gene coexpression.

Gene Regulation Analysis Reveals Perturbations of Autism Spectrum Disorder during Neural System Development.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that impedes patients’ cognition, social, speech and communication skills. ASD is highly heterogeneous with a variety of etiologies and clinical manifestations. The prevalence rate of ASD increased steadily in recent years. Presently, molecular mechanisms underlying ASD occurrence and development remain to be elucidated. Here, we integrated multi-layer genomics data to investigate the transcriptome and pathway dysregulations in ASD development. The RNA sequencing (RNA-seq) expression profiles of induced pluripotent stem cells (iPSCs), neural progenitor cells (NPCs) and neuron cells from ASD and normal samples were compared in our study. We found that substantially more genes were differentially expressed in the NPCs than the iPSCs. Consistently, gene set variation analysis revealed that the activity of the known ASD pathways in NPCs and neural cells were significantly different from the iPSCs, suggesting that ASD occurred at the early stage of neural system development. We further constructed comprehensive brain- and neural-specific regulatory networks by incorporating transcription factor (TF) and gene interactions with long 5 non-coding RNA(lncRNA) and protein interactions. We then overlaid the transcriptomes of different cell types on the regulatory networks to infer the regulatory cascades. The variations of the regulatory cascades between ASD and normal samples uncovered a set of novel disease-associated genes and gene interactions, particularly highlighting the functional roles of ELF3 and the interaction between STAT1 and lncRNA ELF3-AS 1 in the disease development. These new findings extend our understanding of ASD and offer putative new therapeutic targets for further studies.

Play in Relation to Autism Traits in Young Children at Elevated Likelihood for Autism Spectrum Disorder.

Play of younger siblings of children with autism spectrum disorder (ASD) (siblings; n = 44), very preterm children (preterms; n = 44), and children at typical likelihood for ASD (n = 36) was observed at 24months. Children with ASD and atypical development engaged less in spontaneous (pre-)symbolic play than typically developing children. Total duration of spontaneous and elicited (pre-)symbolic play was associated with later ASD traits in siblings. However, no association between most play variables and ASD traits was found in preterms. This suggests possible different ASD-trajectories between siblings and preterms. Thus, spontaneous (pre-)symbolic play may be indicative of developmental challenges across several populations, and results highlight the need to move beyond studying only siblings in order to broaden our understanding of ASD.

Potential role for immune-related genes in autism spectrum disorders: Evidence from genome-wide association meta-analysis of autistic traits.

The clinical heterogeneity of autism spectrum disorders majorly challenges their genetic study. Autism spectrum disorders symptoms occur in milder forms in the general population, as autistic-like traits, and share genetic factors with autism spectrum disorders. Here, we investigate the genetics of individual autistic-like traits to improve our understanding of autism spectrum disorders. We meta-analysed four population-based genome-wide association studies investigating four autistic-like traits – ‘attention-to-detail’, ‘imagination’, ‘rigidity’ and ‘social-skills’ (n = 4600). Using autism spectrum disorder summary statistics from the Psychiatric Genomic Consortium (N = 46,350), we applied polygenic risk score analyses to understand the genetic relationship between autism spectrum disorders and autistic-like traits. Using MAGMA, we performed gene-based and gene co-expression network analyses to delineate involved genes and pathways. We identified two novel genome-wide significant loci – rs6125844 and rs3731197 – associated with ‘attention-to-detail’. We demonstrated shared genetic aetiology between autism spectrum disorders and ‘rigidity’. Analysing top variants and genes, we demonstrated a role of the immune-related genes RNF114, CDKN2A, KAZN, SPATA2 and ZNF816A in autistic-like traits. Brain-based genetic expression analyses further linked autistic-like traits to genes involved in immune functioning, and neuronal and synaptic signalling. Overall, our findings highlight the potential of the autistic-like trait–based approach to address the challenges of genetic research in autism spectrum disorders. We provide novel insights showing a potential role of the immune system in specific autism spectrum disorder dimensions.Lay abstractAutism spectrum disorders are complex, with a strong genetic basis. Genetic research in autism spectrum disorders is limited by the fact that these disorders are largely heterogeneous so that patients are variable in their clinical presentations. To address this limitation, we investigated the genetics of individual dimensions of the autism spectrum disorder phenotypes, or autistic-like traits. These autistic-like traits are continuous variations in autistic behaviours that occur in the general population. Therefore, we meta-analysed data from four different population cohorts in which autistic-like traits were measured. We performed a set of genetic analyses to identify common variants for autistic-like traits, understand how these variants related to autism spectrum disorders, and how they contribute to neurobiological processes. Our results showed genetic associations with specific autistic-like traits and a link to the immune system. We offer an example of the potential to use a dimensional approach when dealing with heterogeneous, complex disorder like autism spectrum disorder. Decomposing the complex autism spectrum disorder phenotype in its core features can inform on the specific biology of these features which is likely to account to clinical variability in patients.

Autism in Turkey: demographics, behavior problems, and accompanying medical conditions in a sample of Turkish youth with autism spectrum disorder

Autism spectrum disorder (ASD) is an etiologically heterogeneous neurodevelopmental condition that eludes a single explanation or cure. Epidemiological studies reveal risk factors, relevant comorbidities, and behavioral correlates to reach a better understanding of ASD. To contribute such data from an understudied ASD population, this paper presents epidemiological data from a Turkish sample of individuals with ASD (n = 911, 748 boys (82.1%) and 163 girls (17.9%) between 1 and 18 years of age). Average age at diagnosis was 31.06 ± 11.88 months, and the male-to-female ratio was 4.6:1. Three in 4 individuals with ASD had obsessive behaviors, and 1 in 4 had allergic conditions, inappropriate sexual behaviors, self-harming behaviors, and harmful behaviors towards others. One in 3 received a dietary treatment for at least 3 months; almost half received vitamin supplements; the majority (70%) did not experience constipation; and 2 in 3 were picky eaters. This paper presents data on the age of diagnosis, gender ratios, accompanying behaviors, and dietary interventions in Turkish individuals with ASD, which are topics of current research interest about ASD. Such data from non-Western populations may supplement epidemiological knowledge gained from Western populations to help reach a more comprehensive understanding of this condition with many unknowns.

Autismespectrumstoornis en/of anorexia nervosa

The assessment of autism spectrum disorders (ASD) is complex, especially when there are alternative diagnostic hypotheses. In that case, one should not only have a good understanding of ASD, but should also have sufficient expertise of the alternative diagnoses. To promote knowledge about ASD in the professional field, the Autism Expertise Center has started a series of whitepapers. In order to bring together the relevant expertise, we collaborate with other institutions. The white papers explain, per diagnostic criterion, the difference between ASD and another diagnosis, but also what can be observed when these diagnoses appear together. We hereby aim to provide diagnosticians with more knowledge and tools and thus improve the diagnostic process. In this whitepaper we will specifically discuss ASD and anorexia nervosa: how can you distinguish these diagnoses from each other and when do you diagnose both?

Understanding of ASD by Siblings is Associated with Warmth and Hostility in the Sibling Relationship

Autism Spectrum Disorder (ASD) impacts not only the child with ASD, but also the entire family system, including siblings. The present study examined perceptions of the sibling relationship in brothers and sisters of children with ASD, as well as how understanding of autism (symptoms, long-term implications of the disorder) in siblings of children with ASD is related to the sibling’s perceptions of quality of the sibling relationship. Siblings (N = 44, Mean Age = 10.4 years, SD = 2.6) of children with ASD were administered an interview assessing their understanding of ASD and self-report questionnaires measuring their perception of the sibling relationship quality. The more siblings understood about ASD, the more hostility they reported by their sibling with ASD. Age of the sibling, conversely, was negatively associated with both hostile and warm behavior by the brother or sister with ASD towards the sibling. More understanding of autism may be associated with more contention within the sibling relationship, whereas older siblings may spend less time with their brother or sister with autism. Results have implications for improving sibling relationship quality, as well as elucidating the complexity of sibling relationships. These findings have further implications for the development of support systems with use of coping skills for improving the quality of the sibling relationship.

Prediction in Autism Spectrum Disorder: A Systematic Review of Empirical Evidence.

According to a recent influential proposal, several phenotypic features of autism spectrum disorder (ASD) may be accounted for by differences in predictive skills between individuals with ASD and neurotypical individuals. In this systematic review, we describe results from 47 studies that have empirically tested this hypothesis. We assess the results based on two observable aspects of prediction: learning a pairing between an antecedent and a consequence and responding to an antecedent in a predictive manner. Taken together, these studies suggest distinct differences in both predictive learning and predictive response. Studies documenting differences in learning predictive pairings indicate challenges in detecting such relationships especially when predictive features of an antecedent have low salience or consistency, and studies showing differences in habituation and perceptual adaptation suggest low-level predictive processing differences in ASD. These challenges may account for the observed differences in the influence of predictive priors, in spontaneous predictive movement or gaze, and in social prediction. An important goal for future research will be to better define and constrain the broad domain-general hypothesis by testing multiple types of prediction within the same individuals. Additional promising avenues include studying prediction within naturalistic contexts and assessing the effect of prediction-based intervention on supporting functional outcomes for individuals with ASD. LAY SUMMARY: Researchers have suggested that many features of autism spectrum disorder (ASD) may be explained by differences in the prediction skills of people with ASD. We review results from 47 studies. These studies suggest that ASD may be associated with differences in the learning of predictive pairings (e.g., learning cause and effect) and in low-level predictive processing in the brain (e.g., processing repeated sounds). These findings lay the groundwork for research that can improve our understanding of ASD and inform interventions. Autism Res 2021, 14: 604-630. © 2021 International Society for Autism Research and Wiley Periodicals LLC.

Private music teachers' knowledge of and attitudes toward students with autism spectrum disorder.

Although extracurricular music activities are common in Hong Kong, private music teachers' perceptions of children with autism spectrum disorder (ASD) are underexplored in research in this context. This study examined private music teachers' knowledge of ASD and their attitudes toward students with ASD in Hong Kong, and the relationship between these two factors. The study collected data from a questionnaire survey (n = 200) and eleven individual interviews. Unexpectedly, the findings showed that the teachers had a good understanding and a marginally positive perception of ASD, despite some anxiety about teaching students with ASD. Furthermore, knowledge of and attitude toward ASD were positively correlated. Teachers with previous training in special education needs had a better understanding of ASD and a more positive attitude toward ASD than those without related training. These results imply that further formal and public education could promote acceptance of and equal learning opportunities for students with ASD.

Towards a better understanding of girls on the Autism spectrum: educational support and parental perspectives

ABSTRACT This UK study aimed to elicit parental voices and school Special Educational Needs Co-ordinator (SENCo) views, to work towards a better understanding of sex-specific symptomology in females with Autism Spectrum Disorder (ASD), and identify the special educational needs of these girls. SENCos in a small local authority (LA) were sent questionnaires investigating their understanding of ASD and girls. Data were collected from 53 SENCos across the LA. Parental views were explored through a group interview with three parents of girls with a diagnosis of ASD. Results indicate that SENCos have an understanding of male presentations of ASD but lack confidence in both identifying and supporting girls with ASD. Qualitative analysis revealed the following key themes: inconsistent support, paucity of resources, parental emotion and parental initiative. Findings suggest there is a considerable gap between the needs of girls with ASD and current levels of understanding and support within educational settings.

Correlations between Understanding Autism Spectrum Disorder and Self-positiveness in Typically Developing Individuals: Changes through Group Work with People with Autism Spectrum Disorder

Correlations between Understanding Autism Spectrum Disorder and Self-positiveness in Typically Developing Individuals: Changes through Group Work with People with Autism Spectrum Disorder

Understanding autism spectrum disorders with animal models: applications, insights, and perspectives.

Autism spectrum disorder (ASD) is typically characterized by common deficits in social skills and repetitive/stereotyped behaviors. It is widely accepted that genetic and environmental factors solely or in combination cause ASD. However, the underlying pathogenic mechanism is unclear due to its highly heterogeneous nature. To better understand the pathogenesis of ASD, various animal models have been generated, which can be generally divided into genetic, environment-induced, and idiopathic animal models. In this review, we summarize the common animals used for ASD study and then discuss the applications, clinical insights, as well as challenges and prospects of current ASD animal models.

Genetic Sequencing and Understanding Autism Spectrum Disorder (ASD) Deeper at a Genetic Level

Autism spectrum disorder (ASD) is a term that refers to a group of early-onset social communication deficiencies and repetitive sensory–motor activities that can be caused by a significant genetic component as well as environmental factors.

Exploring sociodemographic predictors of parents’ perceptions about their children’s autism and their families’ adjustment

BackgroundDiagnostic and treatment disparities exist among sociodemographically diverse families with autism spectrum disorder (ASD). These disparities may be partially explained by the lack of information researchers and providers have regarding the unique experiences of diverse populations. AimsThis study aimed to explore sociodemographic predictors of parents’ perceptions about their children’s ASD and families’ adjustment. MethodsHierarchical linear regression analyses were conducted to explore whether sociodemographic factors predicted aspects of parent’s perceptions and family adjustment among 363 parents of children and adolescents with ASD. ResultsParents’ race/ethnicity, education level, and annual household income predicted their beliefs that they or treatment could be helpful in controlling their children’s ASD symptoms; their understanding of ASD; their experiences of emotional distress; their involvement in resources of support; and their families’ ability to manage stress. ConclusionOur results demonstrate the importance of considering the complexity of families’ demographic characteristics when working to support families with ASD. Parents’ unique characteristics and experiences influence their perceptions about their children’s ASD diagnosis and their families’ ability to adjust to life raising children with ASD. Research extending this work is a critical step in dismantling ASD diagnostic and treatment disparities.

Subtle Oculomotor Difficulties and Their Relation to Motor Skill in Children with Autism Spectrum Disorder

ObjectivesSensorimotor difficulties are often reported in autism spectrum disorders (ASD). Visual and motor skills are linked in that the processing of visual information can help in guiding motor movements. The present study investigated oculomotor skill and its relation to general motor skill in ASD by providing a comprehensive assessment of oculomotor control.MethodsFifty children (25 ASD; 25 typically developing [TD]), aged 7–10 years, completed a motor assessment (comprising fine and gross motor tasks) and oculomotor battery (comprising fixation, smooth pursuit, prosaccade and antisaccade tasks).ResultsNo group differences were found for antisaccade errors, nor saccade latencies in prosaccade and antisaccade tasks, but increased saccade amplitude variability was observed in children with ASD, suggesting a reduced consistency in saccade accuracy. Children with ASD also demonstrated poorer fixation stability than their peers and spent less time in pursuit of a moving target. Motor skill was not correlated with saccade amplitude variability. However, regression analyses revealed that motor skill (and not diagnosis) accounted for variance in fixation performance and fast smooth pursuit.ConclusionsThe findings highlight the importance of considering oculomotor paradigms to inform the functional impact of neuropathologies in ASD and also assessing the presentation of co-occurring difficulties to further our understanding of ASD. Avenues for future research are suggested.

Differentially altered social dominance- and cooperative-like behaviors in Shank2- and Shank3-mutant mice

BackgroundRecent progress in genomics has contributed to the identification of a large number of autism spectrum disorder (ASD) risk genes, many of which encode synaptic proteins. Our understanding of ASDs has advanced rapidly, partly owing to the development of numerous animal models. Extensive characterizations using a variety of behavioral batteries that analyze social behaviors have shown that a subset of engineered mice that model mutations in genes encoding Shanks, a family of excitatory postsynaptic scaffolding proteins, exhibit autism-like behaviors. Although these behavioral assays have been useful in identifying deficits in simple social behaviors, alterations in complex social behaviors remain largely untested.MethodsTwo syndromic ASD mouse models—Shank2 constitutive knockout [KO] mice and Shank3 constitutive KO mice—were examined for alterations in social dominance and social cooperative behaviors using tube tests and automated cooperation tests. Upon naïve and salient behavioral experience, expression levels of c-Fos were analyzed as a proxy for neural activity across diverse brain areas, including the medial prefrontal cortex (mPFC) and a number of subcortical structures.FindingsAs previously reported, Shank2 KO mice showed deficits in sociability, with intact social recognition memory, whereas Shank3 KO mice displayed no overt phenotypes. Strikingly, the two Shank KO mouse models exhibited diametrically opposed alterations in social dominance and cooperative behaviors. After a specific social behavioral experience, Shank mutant mice exhibited distinct changes in number of c-Fos+ neurons in the number of cortical and subcortical brain regions.ConclusionsOur results underscore the heterogeneity of social behavioral alterations in different ASD mouse models and highlight the utility of testing complex social behaviors in validating neurodevelopmental and neuropsychiatric disorder models. In addition, neural activities at distinct brain regions are likely collectively involved in eliciting complex social behaviors, which are differentially altered in ASD mouse models.

S21-2 Clinical neurophysiological understanding of autism spectrum disorders: Examinations on the effect of imitation therapy and atypical intonation processing by EEG and ERPs

S21-2 Clinical neurophysiological understanding of autism spectrum disorders: Examinations on the effect of imitation therapy and atypical intonation processing by EEG and ERPs