Autism Spectrum Disorder Research Articles

PEERS® for School-Based Professionals via Zoom as a Pre-Employment Transition Service

Previous research has shown that conversational language predicts vocational independence and friendship development. This study investigated the efficacy of the Program for the Education and Enrichment of Relational Skills (PEERS®) for School-Based Professionals delivered via Zoom as a pre-employment transition service on the social competence of teens and young adults with autism spectrum disorder (ASD). The program was administered weekly by vocational rehabilitation counselors via telehealth. A Quasi-experimental pilot design using pre/post-test analysis was used because all students in the vocational rehabilitation case management telehealth group indicated a desire to participate in the PEERS® training, leaving none available to form a comparison group. Results indicate a decrease in the severity of ASD symptomatology regarding social communication and an increase in conversational skills associated with vocational independence. They were invited to and hosted more get-togethers with peers who shared their interests, a measure of future collegiality. Implications for individuals on the autism spectrum and employment transition service providers are discussed.

The Resilience and Lived Experiences of the Parents of Children With Autism in India: A Mixed-method Study

Background and Objectives: Families dealing with autism spectrum disorder (ASD) children try to adapt with different strategies. 1) To assess the resilience of parents dealing with children having ASD and its associated factors. 2) To explore the perspective and strategies of families dealing with children having ASD Methods: This was a mixed-methods study done over a period of 3 months among parents having children diagnosed with ASD; undergoing institutional therapy for more than 6 months in duration. Data collection was done using the PREQ questionnaire and key informant interviews (KII). Informed consent was taken prior to each interview and audio recordings. Relevant tests of significance and deductive analysis followed. Results: There was an equal divide observed between the low (50%) and high resilience (50%) groups. Binary logistic regression showed that the upper socio-economic class showed higher odds of better resilience (OR=4.038, 95% CI, 2.857%, 4.894%) as compared to the lower socio-economic class, and those with higher levels of education showed better resilience (OR=9.903, 95% CI, 2.502%, 3.483% than the lesser educated. KII explored different perspectives on personal experiences, concerns, challenges, attitudes, etc. where both perspectives such as benefits and hardships were addressed on an individual as well as a family basis, respectively Conclusion: Education and socio-economic backgrounds played a role in mending the resilience and other active measures such as peer support mechanisms and self-coping strategies also influenced the attitude and improved determination of parents dealing with children having ASD.

Perception of Internalized Stigma in Parents of Children With Autism Spectrum Disorder: Investigating the Effects of Depression, Anxiety, and Family Functioning

Perception of Internalized Stigma in Parents of Children With Autism Spectrum Disorder: Investigating the Effects of Depression, Anxiety, and Family Functioning

Diagnostic usefulness of 24‐h polysomnography for idiopathic hypersomnia co‐occurring with neurodevelopmental disorders: A case report

AbstractBackgroundAlthough central disorders of hypersomnolence (CDH) and attention‐deficit/hyperactivity disorder (ADHD) are frequently comorbid, they often remain underdiagnosed, leading to insufficient treatment and sociopsychological outcomes.Case PresentationHere, we present a case of a male in his late 20s with ADHD and autism spectrum disorder who exhibited symptoms suggestive of idiopathic hypersomnia (IH), a subtype of CDH. The patient experienced difficulty waking up and dropped out of university. Additionally, although methylphenidate extended‐release was prescribed, he often forgot to take his medication, resulting in difficulty waking up until late afternoon. No symptoms related to rapid eye movements sleep were observed. Considering the possibility of concurrent hypersomnia with neurodevelopmental disorders, we conducted 24‐h polysomnography (PSG). The results demonstrated total sleep time of 774.5 min (≥660 min). Together with other criteria, we diagnosed him as having IH. Following discharge and discussion with the patient, we provided sleep hygiene education for him, and he resumed day care attendance to establish a social routine.ConclusionIn cases where hypersomnia may co‐occur with neurodevelopmental disorders, active utilization of 24‐h PSG enables detailed evaluation of sleep–wake patterns and behaviors, facilitating effective guidance on sleep hygiene and promoting improvements in social rhythms and sociability.

The ways of communication for children with autism spectrum disorder

Deficits in social cognition underlie many of the profound challenges individuals with autism spectrum disorder face interacting with and understanding others. This study aimed to evaluate abilities predicting behavioral, verbal, and emotional responses during simulated social scenarios in 42 autistic children. Additionally, communication patterns were analyzed across solitary, peer, and group settings. A multifaceted assessment battery including the “prognostic stories” technique, expert observational ratings, cultural congruence metrics, and activity mapping provided insights into participants’ capacity forecasting actions, statements, and feelings in interpersonal situations. Results revealed marked variability across skill domains, with greatest impairments anticipating emotions. Communication quality and self-regulation strongly correlated with predictive accuracy. Cluster analysis indicated four distinct functional profiles (“proactive planners”, “regulatory navigators”, “quiet observers”, and “balanced responders”) highlighting heterogeneous strengths warranting support. Despite challenges inferring psychological states, personalized interventions targeting highly correlated skill deficits offer optimal social adaptation. Findings reiterate calls for balanced approaches recognizing autistic diversity while compassionately addressing barriers to inclusion. With acceptance and opportunity, individuals across the spectrum have much to contribute. Limitations include sample size and gender imbalance. Follow-up longitudinal tracking is warranted.

Erratum for Autism Spectrum Disorder is Related to Increasing Intestinal Prevotella That Can Be Regulated by Vitamin A [Iran J Psychiatry Behav Sci. 2023;17(2):e126508

Erratum for Autism Spectrum Disorder is Related to Increasing Intestinal Prevotella That Can Be Regulated by Vitamin A [Iran J Psychiatry Behav Sci. 2023;17(2):e126508

Differential diagnosis: Understanding nonverbal learning disorder and autism spectrum disorder.

Previous research has suggested that children with Nonverbal Learning Disorder (NLD) share similar clinical profiles to those with autism spectrum disorder (ASD). Three groups of children were identified for the purpose of the current study: NLD (n = 41), ASD (n = 55), and ASD with a NLD profile (n = 17). Children who met DSM-5 criteria for ASD after a neuropsychological evaluation were included in this sample. The NLD group was defined by VSI < VCI, with a minimum of a 15-point discrepancy between indices and average to above average verbal intelligence, whereas children who met DSM-5 criteria for ASD and also demonstrated visual-spatial deficits met criteria for the NLD + ASD group. As anticipated, the ASD group performed better on measures of VSI compared to the NLD and ASD + NLD groups. There was not a significant difference between groups on measures of visuomotor and construction abilities, visual integration, motor processing speed, and academic achievement. No significant differences between groups were found on the CBCL/TRF Social Problems, Attention Problems, or Internalizing/Externalizing Problems scales, indicating similar phenotypes. However, there was a significant difference between groups on the Thought Problems subscale for teacher and parent rating scales. Results corroborate previous research indicating similarities between neuropsychological profiles and suggest that the ASEBA Thought Problems scale may aid in discriminating individuals with ASD from those with NLD.

Impact of gene polymorphisms involved in the vitamin D metabolic pathway on the susceptibility to and severity of autism spectrum disorder.

This study explores the association between genetic variations in the vitamin D pathway and autism spectrum disorder (ASD) susceptibility and severity in Thai children. A total of 276 participants, including 169 children with ASD and 107 healthy controls, were recruited. Genotyping of vitamin D pathway genes (CYP2R1, CYP27B1, GC, and VDR) was conducted using TaqMan-based real-time PCR, while serum vitamin D levels were measured by chemiluminescence immunoassay. ASD severity was assessed via the Childhood Autism Rating Scale, 2nd Edition. Results reveal that the VDR gene (ApaI) rs7975232 is linked to a reduced ASD risk. In contrast, the GC gene rs7041 (A > C) polymorphism shows a significant association with increased ASD risk and severity, particularly in individuals with both the GC gene polymorphism and vitamin D insufficiency. Additionally, there was a higher prevalence of the GC1s isoform and GC1s-GC1s haplotype in children with ASD, associated with ASD severity. This study identified that individuals possessing GC rs7041 C alleles and the GC1s genotype (rs7041C/rs4588G) exhibit an increased susceptibility to and more severity of ASD. Further studies with larger cohorts are essential to fully understand these genetic polymorphisms' roles.

A novel USP51 variant in a patient with autism spectrum disorder and epilepsy

Abstract Background Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder characterized by impaired social communication and repetitive behaviours. The genetic basis of ASD is complex and involves both rare variants with large effect sizes and common variants with small effect sizes. Case presentation This case report describes a 19-year-old male with ASD, intellectual disability, absent speech, and epilepsy. Molecular testing revealed a novel maternally inherited variant in the USP51 gene, which encodes Ubiquitin Specific Peptidase 51, a deubiquitinating enzyme involved in the DNA damage response. Conclusions Based on current knowledge, the variant is predicted to result in a truncated protein and is considered a variant of uncertain significance (VUS). The USP51 gene has been implicated in neurodevelopment, and its role in the developing brain suggests its potential relevance to ASD. Further studies are needed to establish the association of USP51 variants with ASD and elucidate the full phenotypic spectrum associated with these variants.

THE ROLE OF THE ENDOCANNABINOID SYSTEM AND CANNABIDIOL (CBD) IN THE TREATMENT OF AUTISM SPECTRUM DISORDER: EFFICACY, SAFETY, AND COMORBIDITIES

Introduction: Autism Spectrum Disorder (ASD) encompasses a range of neurodevelopmental disorders characterized by persistent deficits in communication and social interaction, along with restrictive and repetitive behaviors. Conventional interventions often face limitations, prompting interest in alternative treatments, particularly those involving the endocannabinoid system (ECS) and cannabidiol (CBD). Objectives: This study aims to evaluate the role of the ECS and the efficacy of CBD as therapeutic interventions for ASD and its comorbidities. Methods: A literature review was conducted, focusing on articles published in Portuguese, Spanish, and English from 2019 to 2024. Databases such as the Virtual Health Library, LILACS Plus, and Medline were searched using descriptors: “Cannabidiol,” “Autism,” and “Endocannabinoid System”. Boolean terms “AND” and “OR” refined the results. A total of 7 articles from Medline and 3 from LILACS were initially identified. Results: The review identified 10 relevant articles that provided comprehensive insights into the effects of CBD on core ASD symptoms, including social interaction and anxiety. Most studies reported significant improvements in patients, with minimal adverse effects, emphasizing the safety of CBD compared to traditional treatments. Conclusion: The findings suggest that CBD may offer a promising alternative for treating ASD and its comorbidities, with a favorable safety profile. Continued research is essential to establish effective guidelines for clinical application.

A DIFICULDADE DAS CRIANÇAS COM TEA NAS CRECHES PÚBLICAS

The adversities related to the teaching of children with autism spectrum disorder are derived from an inefficient preparation of the basic educational system, mainly of municipal day care centers. The objective of this study is to analyze the obstacles faced by children with Autism Spectrum Disorder in Brazilian day care centers according to the pillars of special education and inclusive processes. Methodologically, an exploratory and documentary bibliographic review was used through a qualitative research based on works, texts and scientific articles by the following authors: Camargo (2020), Rosa e Eugênio (2020), Perin (2015) , Zaqueu et al. (2015), Andrade (2018), Silva (2016), ECA (1990), Brasil (1988), Mariano (2019), Fernandes (2021), Mariano (2019), Severo (2017), and Zanon et al. (2015). It was found, therefore, that continuing education is essential for education professionals to remain able to accompany children with ASD during the first student day at day care centers and preschools. Similarly, the role of psychopedagogy is given by the simultaneous understanding between the interaction of these students and the need for primary attention to each of their abilities and limitations.

Altered expression of Csnk1a1p in Autism Spectrum Disorder in Iranian population: case-control study.

Over the past decade, substantial scientific evidence has showed that long non-coding RNAs (lncRNAs) are extensively expressed and play a crucial role in gene modulation through a diverse range of transcriptional, and post-transcriptional mechanisms. Recent discoveries have emphasized the involvement of lncRNAs in maintaining cellular homeostasis and neurogenesis in the brain. Accumulating reports identified dysregulated lncRNAs associated with psychiatric disorders, including autism. In this study, we examined the expression levels of DISC2, Linc00945, Foxg1-as1, Csnk1a1p, and Evf2 lncRNAs in blood samples from 21 clinically diagnosed autistic patients based on the Diagnostic and Statistical Manual of Mental Disorders criteria-5th edition (DSM-5), compared to age, sex, and ethnically-matched 25 healthy individuals. RNA extraction and cDNA synthesis were performed, followed by real-time PCR for quantification of lncRNAs expression levels. Receiver operating characteristic (ROC) curve analysis was used to evaluate biomarker potential. Additionally, we investigated the correlation between gene expression levels and autism comorbidities. Our results showed a significant decrease in Csnk1a1p expression in patients with autism spectrum disorder (ASD) compared to healthy children (P value = 0.0008). ROC curve analysis indicated that Csnk1a1p expression levels could effectively discriminate patients from healthy controls (AUC = 0.837, P value = 0.000284). No significant differences were observed between Csnk1a1p expression levels and comorbidity with ADHD or intellectual disability (p-value > 0.05). Based on these findings, Csnk1a1p may play a significant role in autistic patients and could serve as a potential biomarker for diagnostic and predictive purposes, as well as a therapeutic target.

Neuro-Architectural Design of an Inclusive School Complex: A Response to the Needs of Autistic Children in Ngaoundere

In Cameroon, although efforts have been made to improve access to education, children with autism spectrum disorders (ASD) often remain excluded from the traditional school system, particularly in the northern regions where access to specialized infrastructure is limited. This article presents the results of a study on the design of a school complex adapted to autistic children in Ngaoundere, incorporating the principles of neuro-architecture. The survey conducted with specialists, parents, and educators provided crucial insights to create an inclusive and calming educational environment that meets the sensory and cognitive needs of the children. The site analysis in the Adamawa region, considering climatic and geographical constraints, confirmed the relevance of the location. The architectural design, focused on diverse spaces such as classrooms, sensory withdrawal zones, and common areas promoting inclusion, not only enhances the social integration of autistic children but also raises awareness in the community about the importance of their education. This project, rooted in an ecological and cultural approach, represents a sustainable and innovative initiative for Cameroon’s education system.

Longitudinal Predictors of Adaptive Functioning in Emerging Adults with and without Autism Spectrum Disorder.

Individuals with autism spectrum disorder (ASD) display heterogeneity in adaptive functioning, underscoring the need to identify predictors to inform clinical and scientific interventions. We investigated the longitudinal associations between an autism diagnosis, co-occurring psychopathology symptoms, executive functions (EF) and subsequent adaptive functioning in individuals with and without ASD (IQ > 70). Sixty-six individuals (26 with ASD, 40 without ASD) were assessed at baseline (mean age = 11.8 years, SD = 2.1) and at 10-year follow-up (mean age 21.4, SD = 2.3). The diagnostic evaluation comprised a comprehensive assessment of autism symptoms and emotional and cognitive functioning. Co-occurring psychopathology symptoms were assessed with two measures: self-reported depressive symptoms with the Short Mood and Feelings Questionnaire and parent-reported total problems with the Child Behavior Checklist 6-18. Participants completed neuropsychological tests to evaluate EF. We investigated adaptive functioning by using the Weiss Functional Impairment Rating Scale (WFIRS) which is a self-report measure of impairment in the following domains: family, work, school, life skills, self-concept, social and risk-taking. Among the emerging adults previously diagnosed with ASD, 46% reported living independently, 75% had at least one friend, and 71% were employed or in education. Individuals with ASD reported significantly lower adaptive functioning compared to individuals without ASD (WFIRS Total, Hedges' g = 0.92). Greater EF difficulties in childhood/adolescence predicted lower adaptive functioning in emerging adulthood, surpassing the influence of autism diagnosis and co-occurring symptoms. The findings highlight the influential role of EF, implying that interventions targeting EF difficulties could improve long-term outcomes for individuals with ASD.

ErbB inhibition rescues nigral dopamine neuron hyperactivity and repetitive behaviors in a mouse model of fragile X syndrome.

Repetitive stereotyped behaviors are core symptoms of autism spectrum disorders (ASD) and fragile X syndrome (FXS), the prevalent genetic cause of intellectual disability and autism. The nigrostriatal dopamine (DA) circuit rules movement and creation of habits and sequential behaviors; therefore, its dysregulation could promote autistic repetitive behaviors. Nevertheless, inspection of substantia nigra pars compacta (SNpc) DA neurons in ASD models has been overlooked and specific evidence of their altered activity in ASD and FXS is absent. Here, we show that hyperactivity of SNpc DA neurons is an early feature of FXS. The underlying mechanism relies on an interplay between metabotropic glutamate receptor 1 (mGluR1) and ErbB tyrosine kinases, receptors for the neurotrophic and differentiation factors known as neuregulins. Up-regulation of ErbB4 and ErbB2 in nigral DA neurons drives neuronal hyperactivity and repetitive behaviors of the FXS mouse, concurrently rescued by ErbB inhibition. In conclusion, beyond providing the first evidence that nigral DA neuron hyperactivity is a signature of FXS and nigral mGluR1 and ErbB4/2 play a relevant role in FXS etiology, we demonstrate that inhibiting ErbB is a valuable pharmacological approach to attenuate stereotyped repetitive behaviors, thus opening an avenue toward innovative therapies for ASD and FXS treatment.

Coparenting Representations and Interactions Among Parents of Preschoolers with an Autism Spectrum Disorder

SYNOPSIS Objective. Coparenting (CP) representations as assessed using self-report or interviews are associated with coparental behavior among families with typically developing (TD) children. The current study examined whether the same would apply among families with children with an Autism Spectrum Disorder (ASD), or that there would be no such association due to the communication and behavioral difficulties related to children’s diagnosis. Design. The CP representations of parents of 80 preschooler boys with ASD were assessed using self-report, and CP behaviors were assessed in the Lausanne Trilogue Play (LTP) procedure and in a novel Coparental conversation task. Results. More positive CP representations as reported by mothers, but not fathers, were associated with more positive Coparental behaviors during the LTP and during the parental conversation task, even after controlling for children’s cognitive level and severity of symptoms and for parents’ Broad Autism Phenotype and years of education. Conclusions. Coparenting as studied in families of TD children is applicable in families with children with ASD.

Commercial Wearables for the Management of People with Autism Spectrum Disorder: A Review

Autism Spectrum Disorder (ASD) necessitates comprehensive management, addressing complex challenges in social communication, behavioral regulation, and sensory processing, for which wearable technologies offer valuable tools to monitor and support interventions. Therefore, this review explores recent advancements in wearable technology, categorizing devices based on executive function, psychomotor skills, and the behavioral/emotional/sensory domain, highlighting their potential to improve ongoing management and intervention. To ensure rigor and comprehensiveness, the review employs a PRISMA-based methodology. Specifically, literature searches were conducted across diverse databases, focusing on studies published between 2014 and 2024, to identify the most commonly used wearables in ASD research. Notably, 55.45% of the 110 devices analyzed had an undefined FDA status, 23.6% received 510(k) clearance, and only a small percentage were classified as FDA Breakthrough Devices or in the submission process. Additionally, approximately 50% of the devices utilized sensors like ECG, EEG, PPG, and EMG, highlighting their widespread use in real-time physiological monitoring. Our work comprehensively analyzes a wide array of wearable technologies, including emerging and advanced. While these technologies have the potential to transform ASD management through real-time data collection and personalized interventions, improved clinical validation and user-centered design are essential for maximizing their effectiveness and user acceptance.

College Students Recognize Characteristics of Autism, but Struggle to Differentiate Between Characteristics of Autism and Other Disabilities.

The current study evaluates whether college students can identify characteristics of autism as diagnostic for autism, and characteristics of other disabilities as not diagnostic for autism. This study also examines metacognitive awareness of autism knowledge, evaluating whether college students can accurately calibrate their confidence in their beliefs about autistic characteristics. 283 college students completed the Autism Symptomatology Knowledge Assessment (McMahon et al. Research in Autism Spectrum Disorders 71:101499, 2020). In this assessment, participants were presented with characteristics of autism and other disabilities and asked to identify which characteristics could be used to diagnose someone with autism. For each characteristic, participants indicated how certain they were in their response. Participants more accurately categorized characteristics of autism, particularly social interaction and communication challenges, as being consistent with an autism diagnosis. Participants had more difficulty identifying that characteristics of other disabilities, especially anxiety, ADHD, and learning disabilities, were not diagnostic for autism. For autistic characteristics, participants' confidence and accuracy were positively correlated, such that participants who responded accurately were more confident in their response than those who responded inaccurately. For other disability characteristics, confidence and accuracy were typically not correlated or inversely correlated, indicating poor metacognitive awareness. College students confuse autism with other disabilities, which may have important implications in real-world contexts. Furthermore, individuals with poor metacognitive awareness of their autism knowledge may not realize that they are confusing autism with other disabilities, such that they may not seek out additional corrective information about autism.

Performance Comparison of Deep Learning Algorithm for Autism Spectrum Disorder Prediction

Autism Spectrum Disorder is a complex neurodevelopmental condition that significantly impacts social interaction and conduct in individuals. Early diagnosis and timely intervention are crucial for effectively managing the condition and enhancing overall outcomes. This study concentrates on creating predictive models through deep learning algorithms to assist in the early identification of ASD. The study employs an extensive dataset that covers various features linked to ASD traits, such as speech and language development, learning disorders, genetic factors, and behavioral characteristics. The investigation encompasses the assessment of three recurrent neural network (RNN) architectures-standard RNN, Long Short Term Memory(LSTM), and Gated Recurrent Unit(GRU) –for their effectiveness in predicting ASD. The dataset is split into 80% for training and 20% for testing. This study compares RNN, LSTM, and GRU algorithms. The classification results show that the LSTM and GRU models exhibited similar accuracy, with values of 71.03% and 70.78% respectively.

Using an Instructional Package to Support Adults with Autism in Communicating with a Medical Provider.

Adults with autism spectrum disorder (ASD) often experience co-occurring physical and mental health challenges throughout their lives. At the same time, they frequently face many barriers to accessing proper care. Strategies to improve communication and understanding can help to mitigate some of these barriers. This study examined the effects of an instructional package, including a video module accompanied by guided notes, the Autism Healthcare Accommodations Tool (AHAT), and behavior skills training (BST) to teach adults with autism to communicate their unique needs and request accommodations to a medical provider. Three participants independently completed a self-guided video module that modeled how to complete the guided notes and AHAT to identify appropriate accommodations and prepare for a doctor's appointment. Once finished, participants were taught to verbalize their needs and accommodations through BST. Results showed that participants' communication skills increased after introducing the instructional package, generalized to a novel provider and maintained once the instructional package was removed. This intervention proved to be an effective and socially valid method to improve communication for adults with autism in medical settings. Implications and suggestions for future research are discussed.