Autism Spectrum Disorder Research Articles

Autistic-like social communication disorders and sensory profile in visually impaired children: Similarity and divergence with autism spectrum disorders

This study examined the sensory profile of three groups of children (those with visual impairment, typical development or autism spectrum disorder) aged 3 to 12. The principal aim was to find out whether the Sensory Profile (SP) of children with visual impairment was a good predictor of behaviors typical of ASD. The data was collected through a sensory profile filled out by parents of 37 visually impaired children, 30 with autism spectrum disorder (ASD) and 42 with typical development (TD). To assess the risk of ASD, the Social Communication Questionnaire (SCQ) was also administered. The results indicate that children with visual impairment are at increased risk of exhibiting signs of ASD, and that the sensory profile is a good predictor of risk of autistic signs in children with visual impairment. This study provides for the first time strong evidence for the need to systematically assess the sensory profile in children with visual impairment.

Stakeholder Collaboration in the Education of Australian Students With Autism Spectrum Disorder: A Systematic Review

Abstract Effective collaboration between key stakeholders increases the educational opportunities and outcomes of students with autism spectrum disorder (ASD). Although the value of collaboration between the central members of a student’s network has been widely cited, how collaboration occurs between different stakeholder groups in the education of Australian primary and secondary students with ASD is not widely known. The aim of this review was to identify the factors that influence collaborative practices between three primary stakeholder groups supporting the education of Australian students with ASD: family, school, and community. Through this lens, we analysed the intent of the collaborative practices as well as the specific details of the collaborative practices identified across the research literature published since the implementation of the Disability Standards for Education 2005 (Commonwealth of Australia, 2006). Results from this review indicate existing motivations and processes of collaboration, as well as directions for future research and practice.

Expression of key molecules of the classical inflammation activation pathway in blood leukocytes of autistic children

Autism spectrum disorders (ASD) are complex neurodevelopmental disorders, whose causes are currently not fully understood. Research suggests that inflammation and changes in immune functions may play an important role in the development of autism. Increased levels of proinflammatory cytokines in the brains of autistic children lead to negative regulation of synaptic plasticity, as well as impaired proliferation and differentiation of neurons through activation of the nuclear factor kappa B (NF-κB) signaling pathway. The purpose of the work is to analyze the levels of mRNA: TLR2, TLR4, MyD88, IκBα, NF-κB p50, NF-κB p65 in peripheral blood leukocytes of children in comparison with the severity of autism spectrum disorders. The study included 126 children aged from 3 to 13 years (the ratio of boys to girls was 4:1): 45 children with typical neurodevelopment, and 81 children with a clinically confirmed diagnosis of autism. According to the Childhood Autism Rating Scale, 51 children had mild to moderate ASD (CARS score: 29-36), and 30 children had severe autism (CARS score: 36-60). The expression of inflammatory signal transduction pathway molecules was determined in peripheral blood leukocytes using real-time polymerase chain reaction with SYBRGreen. To compare the samples, one-way ANOVA and Tukey’s test were used. It was found that in leukocytes of children with severe ASD, the expression of the adapter protein MyD88 and the p65 subunit of the nuclear transcription factor NF-κB was significantly reduced, and the expression of the NF-κB inhibitor, IκBα, was significantly increased, compared to the control group. In leukocytes of children with mild ASD, a decrease in NF-κB p65 expression was found at a trend level. When comparing groups of children with different severity of autism symptoms (mild/severe), no significant differences were found in the levels of mRNA of key signaling molecules of the classical inflammation activation pathway in blood leukocytes. Thus, in the blood leukocytes of children with severe ASD, suppression of the expression of key molecules of the classical inflammation activation pathway (NF-κB) is observed, which leads to a decrease in the expression of pro-inflammatory cytokines: IL-1β, IL-18 and IL-2, against the background of increased expression of key cytokine of Th1 cells – IFNγ.

Debunking neuromyths: Pre‐service teachers' insights on autism spectrum disorder

AbstractTeachers' beliefs in certain neuromyths about neurodevelopmental disorders can negatively impact the educational inclusion of students who present them. This study aims to analyse the prevalence of neuromyths about the health and the emotional competences of people with autism spectrum disorder (ASD) in pre‐service teachers; and to assess the possible contribution of university training to constructing accurate knowledge about autism. This prevalence was compared in three groups of pre‐service teachers: 1st‐year students, 4th‐year students who will be regular teachers and 4th‐year students training to be special education specialists. Additionally, it was proposed to identify the topic with the most myths (health or emotional competences) and the most frequent myths. A validated instrument was completed by 167 pre‐service teachers. Overall, the 4th‐year specialist group had more correct answers and fewer doubts that the 4th‐year regular group, which had more correct answers than the 1st‐year group. The prevalence of errors was not statistically different among the three groups. Moreover, participants answered more questions and made more errors about emotional competences in autism than about health. Among the most frequent myths are those concerning empathy or the cause of ASD. Based on these results, some implications for pre‐service teacher education are discussed.

Why Can’t My Child Play Too? Current Challenges of Public Playgrounds for Children with Disabilities.

Current Australian legislation promotes playground inclusion for all children, and playgrounds serve as local, safe, and vital spaces for children of all ages to play. The World Health Organisation International Classification of Functioning, Disability and Health, Children and Youth Version states that play is a key activity to engage children with disability in various areas of their lives, and there is no doubt that playgrounds can promote community and social engagement for all children. Consequently, accessible playgrounds are important because they can offer motor, psychological, and social skill development in a fun-filled environment. Nonetheless, some children encounter challenges in playground settings. Surprisingly, very little research has been conducted in Australia on the experiences of children with disabilities in public playgrounds. According to the National Autism Strategy announced by the Australian Government in 2022, there is a growing number of Australians on the autism spectrum. For many individuals with an autistic spectrum disorder (ASD), life outcomes in education, health, and family functioning are worse than they should be. Consequently, while this paper addresses a general perspective of inclusive playground experience for children with disabilities, there is also a focus on the experiences of children with ASD in playgrounds. As a result, this literature review begins with an introduction to the prevalence of autistic spectrum disorder and its associated characteristics. It presents existing research on play, examining various playground factors that impact the experiences of children with disabilities, including ASD. In addition, the role of parents/carers in influencing the outdoor experiences of children with disability is also explored. In conclusion, this paper summarises key findings and proposes relevant research questions to address these gaps.

Malnutrition‐related cardiomyopathy in a pediatric patient with autism spectrum disorder

AbstractWe present a case of a 5‐year‐old male patient with history of autism spectrum disorder and chronic malnutrition secondary to an extremely restrictive diet who presented with life‐threatening anemia and heart failure secondary to malnutrition‐related cardiomyopathy. This case highlights the importance of recognizing nutritional deficiencies in high‐risk individuals and screening for nutritional deficiencies in at‐risk children. Furthermore, it underscores the need for early recognition and intervention as malnutrition‐related cardiomyopathy can have significant morbidity.

Clinical Utility of Virtual Kitchen Errand Task for Children (VKET-C) as a Functional Cognition Evaluation for Children with Developmental Disabilities

Background/Objectives: This study evaluated the clinical utility of a virtual reality (VR)-based kitchen error task for children (VKET-C) to assess functional cognition in children. Methods: In total, 38 children aged 7–12 years were included, comprising 23 typically developing (TD) children and 15 children with developmental disabilities (DDs), including autism spectrum disorder, attention deficit hyperactivity disorder, and intellectual disability. While performing the VKET-C, performance errors were analyzed. The Stockings of Cambridge (SOC) and Spatial Working Memory (SWM) tasks from the Cambridge Neuropsychological Test Automated Battery (CANTAB) were used to assess cognitive function. The Brunner–Munzel test was performed to compare performance errors between the TD and DD groups, and correlations between performance errors and cognitive measures were analyzed. Results: Omission and commission errors were significantly different between the groups (p < 0.001), with no significant difference in motor errors (p > 0.05). Omission errors were correlated with the initial thinking time mean (ITMN) in all items of the SOC task and the between errors (BE) of the SWM task. Commission errors were correlated with the ITMN in the difficult items of the SOC task and the BE of the SWM task. Additionally, motor errors were significantly correlated with problems solved in minimum moves (PSMM) and ITMN in the difficult items of the SOC task and BE in the SWM task. Conclusions: The VKET-C shows promise as an effective tool for assessing executive function and working memory in children with DDs, offering an engaging and ecologically valid alternative to traditional methods.

The Challenges of Avoidant/Restrictive Food Intake Disorder and Autism Spectrum Disorder Comorbidity: A Narrative Update of Course and Outcomes

The Challenges of Avoidant/Restrictive Food Intake Disorder and Autism Spectrum Disorder Comorbidity: A Narrative Update of Course and Outcomes

Metabolic and Inflammatory Profiles in Children and Adolescents with Autism Spectrum Disorder: A Cross-Sectional Study

Background/Objectives: Autism spectrum disorder (ASD) is associated with several coexisting diseases or comorbidities, including inflammatory and metabolic disorders. In fact, ASD symptoms may be associated with immune system dysfunction. However, studies investigating the peripheral blood levels of immune cells are lacking and have provided mixed findings. In this study, we evaluated the relationship between the intensity level of ASD symptoms and the inflammatory and metabolic profiles in 154 children and adolescents (2–17 years). Methods: Bayesian multilevel models were used to examine the relationship between their symptom intensities and inflammatory/metabolic profiles. Results: Heavier children had higher values for triglyceride and insulin levels. Children with a level 3 of ASD intensity had higher free fatty acids levels. However, when adjusting for ASD intensity, gender, medication use, or weight status, older children appeared to have higher values of triglycerides, insulin levels, and free fatty acids. Conclusions: We concluded that as Brazilian children with ASD became older, they had a higher risk for insulin resistance.

Identification of immune traits associated with neurodevelopmental disorders by two-sample Mendelian randomization analysis

BackgroundOne of the main causes of health-related issues in children is neurodevelopmental disorders (NDDs), which include attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and Tourette syndrome (TS). Nonetheless, there is relatively little prior research looking at the link between immunological inflammation and NDDs. Our work uses a two-sample Mendelian Randomization (MR) approach to provide a thorough evaluation of the causal effects of immune traits on ADHD, ASD, and TS.MethodsAs exposures, 731 immunological traits’ genetic associations were chosen, and the outcomes were genome-wide association data for ADHD, ASD, and TS. The inverse-variance weighted (IVW), weighted median (WM), and MR-Egger methods were used to conduct MR analysis. The results’ robustness, heterogeneity, and horizontal pleiotropy were confirmed using extensive sensitivity analysis.ResultsWith single-nucleotide polymorphisms serving as instruments and false discovery rate (FDR) correction applied, the study found that significantly higher expression of CD62L on CD62L+ myeloid DC (IVW, OR: 0.926, 95% CI 0.896~0.958, P = 9.42 × 10–6, FDR = 0.007) and suggestively higher absolute cell count (AC) of CD28 + DN (CD4-CD8-) (IVW, OR: 0.852, 95% CI = 0.780 ∼ 0.932, P-value = 4.65 × 10−4, FDR = 0.170) was associated with a lower risk of ADHD. There was no pleiotropy, and the causal relationships were strong according to sensitivity, leave-one-out, and MR-Steiger directionality tests. For ASD and TS, no harmful or protective immune traits were observed.ConclusionsThe results of the study lend credence to the theory that deficiency in CD62L on CD62L+ myeloid DC and CD28 + DN (CD4-CD8) AC may contribute to the onset of ADHD.

Maternal Human Papillomavirus Infection and Offspring Neurodevelopmental Disorders.

Human papillomavirus (HPV) infection can lead to multiple comorbidities in women, including mental health problems. However, few studies have examined the association between maternal HPV infection and risk of neurodevelopmental disorders in their offspring. We aimed to investigate the association between maternal HPV infection and risk of attention deficit hyperactivity disorder (ADHD) or autism spectrum disorder (ASD) among their offspring. Data from the Taiwan National Health Insurance Research Database were used for analysis. Offspring of mothers with HPV infection were identified as the index group, and a demographic-matched group (offspring of mothers without HPV infection) was selected as the controls. The primary outcome was risk of ADHD or ASD. Cox regression models with multiple adjustments were used to estimate hazard ratios (HRs) with 95% of confidence intervals (CIs). We included 7,762 individuals in the index group and 31,048 in the control group. After adjusting for potential confounding factors, the index group had a higher risk of ADHD (HR: 1.39, 95% CI: 1.15-1.67) than the controls. Importantly, the risk remained significance when HPV infection was diagnosed either before (HR: 1.29, 95% CI: 1.05-1.59) or during pregnancy (HR: 1.79, 95% CI: 1.28-2.51). No increased risk of ASD was identified in the index group compared to the control group. This study highlights the importance of preventing and treating HPV infection during and before pregnancy. Clinicians should be aware of the association between maternal HPV infection and ADHD in their offspring.

The Effectiveness of Improvisational Music Therapy on Emotion Regulation of Children with Autism Spectrum Disorder: Randomised Controlled Trial

The Effectiveness of Improvisational Music Therapy on Emotion Regulation of Children with Autism Spectrum Disorder: Randomised Controlled Trial

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.a. Dias-Logan syndrome) ascertained through an international collaborative network, and reviewed 35 additional previously reported patients. Analysis of 77 affected individuals identified 60 unique disease-causing variants (30 frameshift, 7 missense, 6 splice-site, 17 stop-gain) and 8 unique BCL11A microdeletions. We define the most prevalent features of BCL11A-IDD: IDD, postnatal-onset microcephaly, hypotonia, behavioral abnormalities, autism spectrum disorder, and persistence of fetal hemoglobin (HbF), and identify autonomic dysregulation as new feature. BCL11A-IDD is distinguished from 2p16 microdeletion syndrome, which has a higher incidence of congenital anomalies. Our results underscore BCL11A as an important transcription factor in human hindbrain development, identifying a previously underrecognized phenotype of a small brainstem with a reduced pons/medulla ratio. Genotype-phenotype correlation revealed an isoform-dependent trend in severity of truncating variants: those affecting all isoforms are associated with higher frequency of hypotonia, and those affecting the long (BCL11A-L) and extra-long (-XL) isoforms, sparing the short (-S), are associated with higher frequency of postnatal microcephaly. With the largest international cohort to date, this study highlights persistence of fetal hemoglobin as a consistent biomarker and hindbrain abnormalities as a common feature. It contributes significantly to our understanding of BCL11A-IDD through an extensive unbiased multi-center assessment, providing valuable insights for diagnosis, management and counselling, and into BCL11A's role in brain development.

Association of autism spectrum disorder with epilepsy and abnormal electroencephalogram in children

Association of autism spectrum disorder with epilepsy and abnormal electroencephalogram in children

Adolescents with autism spectrum disorder exhibit intact physical causal inference but weak intention inference

Adolescents with autism spectrum disorder exhibit intact physical causal inference but weak intention inference

46 Micronutrient deficiencies in children and youth with autism spectrum disorder: Findings from a national surveillance study

Abstract Background Children and youth with autism spectrum disorder (ASD) may be at risk of micronutrient deficiencies secondary to feeding problems such as limited dietary repertoire and high-frequency single food intake. The epidemiology of micronutrient deficiencies in the paediatric ASD population has not been studied. Objectives To determine minimum incidence, clinical characteristics, and health care utilization for four micronutrient deficiencies in children and youth with ASD in Canada: (1) vitamin A deficiency/xerophthalmia, (2) scurvy, (3) severe, symptomatic vitamin D deficiency, and (4) severe iron-deficiency anemia. Design/Methods We conducted a study via the Canadian Paediatric Surveillance Program, an active, population-based surveillance platform, between January 2020 and December 2022. More than 2,500 paediatricians and paediatric subspecialists were asked, monthly, to report cases of children and youth <18 years of age with ASD and one or more of the micronutrient deficiencies under surveillance. Case information was obtained via a detailed clinical questionnaire. Descriptive statistics were used to summarize the data. For average yearly minimum incidence estimates, we used case counts over the 3 year surveillance period, 2021 census data and recent ASD prevalence estimates (2% of children/youth aged 1 to 17 years living in private dwellings in Canada). Results Twenty-seven children and youth met the case definition (most male; median age 7.7 years, range 1.8–14.9 years). Multiple deficiencies were diagnosed concurrently in 9/27 (33%). Minimum incidence, per 100,000 children and youth with ASD per year, was 5.1 for scurvy (17 diagnoses); 3.0 for severe iron deficiency anemia (10 diagnoses); 2.1 for severe, symptomatic vitamin D deficiency (7 diagnoses); and <1 for vitamin A deficiency/xerophthalmia (<5 diagnoses). Restricted diet/limited food repertoire, attributed to the patient, was universal (27/27). Number of different foods in the patient’s diet was <10 in nearly all (20/23, 87%). Most patients were non-verbal (19/27, 70%) and of normal weight (18/26, 69%). Two-thirds (18/27, 67%) were admitted to hospital (median duration 8 days, range 3–32 days). One-third (9/27, 33%) underwent an invasive procedure as part of their diagnostic workup. Conclusion This surveillance study represents the first population-level examination of the epidemiology of micronutrient deficiencies in children and youth with ASD. Results suggest that micronutrient deficiencies in ASD are rare but clinically important, leading not infrequently to hospital admission and invasive investigations. Clinical characteristics of cases should inform anticipatory guidance and prevention efforts tailored to the paediatric ASD population.

Gray Matter Volume Correlates of Co-Occurring Depression in Autism Spectrum Disorder.

Autism Spectrum Disorder (ASD) involves neurodevelopmental syndromes with significant deficits in communication, motor behaviors, emotional and social comprehension. Often, individuals with ASD exhibit co-occurring depression characterized by a change in mood and diminished interest in previously enjoyable activities. Due to communicative challenges and a lack of appropriate assessments in this cohort, co-occurring depression can often go undiagnosed during routine clinical examinations and, thus, its management neglected. The literature on co-occurring depression in adults with ASD is limited. Therefore, understanding the neural basis of the co-occurring psychopathology of depression in ASD is crucial for identifying brain-based markers for its timely and effective management.Using structural MRI and phenotypic data from the Autism Brain Imaging Data Exchange (ABIDE II) repository, we examined the pattern of relationship regional grey matter volume (rGMV) has with co-occurring depression and autism severity within regions of a priori interest in adults with ASD (n = 44; age = 17-28 years). Further, we performed an exploratory analysis of the rGMV differences between ASD and matched typically developed (TD, n = 39; age = 18-31 years) samples. The severity of co-occurring depression correlated negatively with the rGMV of the right thalamus. Additionally, a significant interaction was evident between the severity of co-occurring depression and core ASD symptoms towards explaining the rGMV in the left cerebellum crus II. The results further the understanding of the neurobiological underpinnings of co-occurring depression in adults with ASD towards exploring neuroimaging-based biomarkers in the same cohort.

Visual Working Memory in Adolescents with Autism Spectrum Disorder.

Previous research suggests that individuals with autism spectrum disorder (ASD) may experience working memory (WM) problems, but the nature of the underlying disruption remains unknown. A recent study (Bodner et al. 2019) found that young adults with ASD experienced intact WM capacity but disruptions in their ability to efficiently filter and allocate attention. The goal of the present study was to extend this work and evaluate potential disruptions in WM capacity and attentional allocation ability in adolescents with ASD. A sample of 38 adolescents with ASD and 39 adolescents without ASD aged 11-15 years completed a computerized WM task. In brief, participants were shown visual arrays consisting of four or six colored stimuli (circles and squares). After a short delay, memory for one of the stimuli was probed. Importantly, participants were informed beforehand that one of the shapes (e.g., circles) was more likely to be probed compared to the other shape (e.g., squares) - thus making it strategically beneficial to focus primarily on the high frequency shapes. The ASD group demonstrated overall lower WM capacity compared to the non-ASD group. However, no group differences were seen in attentional allocation. There was also no evidence of sex-related differences in WM performance in adolescents with ASD. Taken together with previous findings, the current results suggest that adolescents with ASD show disruptions in WM capacity that are resolved by adulthood. Future longitudinal research is needed to further disentangle the component processes of WM and the developmental trajectories of these components.

INCLUSÃO DOS ALUNOS TEA NA AULAS DE EDUCAÇÃO FÍSICA

The inclusion of students with Autism Spectrum Disorder (ASD) in Physical Education classes is a topic of growing relevance and interest in the field of inclusive education. The present study aims to carry out a literature review on this topic, analyzing the current state of research, identifying gaps in knowledge and providing insights for effective inclusive practices. The justification for this study lies in the importance of promoting an education accessible to all students, regardless of their abilities and needs, and Physical Education plays a fundamental role in this process. The methodology used was a literature review, which involved searches in academic and institutional databases using descriptors related to the topic. The selected studies were critically analyzed to identify patterns, trends and gaps in the literature on the inclusion of students with ASD in Physical Education classes. It is concluded that the effective inclusion of students with ASD in Physical Education classes faces significant challenges, but is essential to ensure their full participation in school and society, promoting a more inclusive and accessible education for all.

Biomarkers for autism spectrum disorder: a short review

Background: Autism Spectrum Disorder (ASD) is characterized by social disabilities and stereotyped behaviors. There is a relevant social impact on autistic people’s lives and, therefore, biomarkers have become relevant for understanding neurobiological mechanisms. Objective: This study aims to review current knowledge about the role of biomarkers and their main scientific evidence in autism. Methods: We performed a non-systematic literature review through the PubMed database, using the keywords “biomarkers”, “autism” and “autism spectrum disorder”. The search was restricted to articles written in English, in the last 10 years. Results: Analyzing the articles found, it is possible to delimit the biomarkers according to the development of ASD, from the prenatal period with exposure to diseases or association of autism with other genetic diseases, through the immune and nutritional factors exposed during pregnancy, and for end those associated with diagnoses phase in which there is the presence of symptoms in which these markers can be used to aid in the diagnosis. Conclusion: Although preliminary, biomarkers may hold promise for prenatal and presymptomatic screening. It may also be used as predictors of treatment for autism spectrum disorder.