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Early diagnosis of autism spectrum disorder (ASD) is essential for improved outcomes. There is a paucity of data on the prevalence of ASD in low- and middle-income countries (LMIC), but early identification may be further delayed in those communities. In this paper, recent studies on strategies for the early detection of ASD, and the prevalence of ASD in LMIC are reviewed. The limitations that can arise in the early identification of ASD in LMIC communities are discussed, and screening tools and strategies that can be helpful are identified. The goal is to recommend models that are culturally appropriate and scientifically valid, easily integrated within community settings while strengthening community systems and reducing disparities in the early identification of ASD. Starting locally by simplifying and demystifying the ASD identification process and building community connections will inform global researchers and policymakers while making a difference in the lives of the children and families affected by ASD.

Autism spectrum disorder (ASD) is a heterogeneous, behaviorally defined neurodevelopmental disorder. Over the past two decades, the prevalence of autism spectrum disorders has progressively increased, however, no clear diagnostic markers and specifically targeted medications for autism have emerged. As a result, neurobehavioral abnormalities, neurobiological alterations in ASD, and the development of novel ASD pharmacological therapy necessitate multidisciplinary collaboration. In this review, we discuss the development of multiple animal models of ASD to contribute to the disease mechanisms of ASD, as well as new studies from multiple disciplines to assess the behavioral pathology of ASD. In addition, we summarize and highlight the mechanistic advances regarding gene transcription, RNA and non-coding RNA translation, abnormal synaptic signaling pathways, epigenetic post-translational modifications, brain-gut axis, immune inflammation and neural loop abnormalities in autism to provide a theoretical basis for the next step of precision therapy. Furthermore, we review existing autism therapy tactics and limits and present challenges and opportunities for translating multidisciplinary knowledge of ASD into clinical practice.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social and communication difficulties, along with repetitive behaviors. While genetic factors play a significant role in ASD, the precise genetic landscape remains complex and not fully understood, particularly in non-syndromic cases. The study performed an in silico comparison of three genetic databases. ClinVar, SFARI Gene, and AutDB were utilized to identify relevant gene subset and genetic variations associated with non-syndromic ASD. Gene set enrichment analysis (GSEA) and protein–protein interaction (PPI) network analysis were conducted to elucidate the biological significance of the identified genes. The integrity of ASD-related gene subset and the distribution of their variations were statistically assessed. A subset of twenty overlapping genes potentially specific for non-syndromic ASD was identified. GSEA revealed enrichment of biological processes related to neuronal development and differentiation, synaptic function, and social skills, highlighting their importance in ASD pathogenesis. PPI network analysis demonstrated functional relationships among the identified genes. Analysis of genetic variations showed predominance of rare variants and database-specific distribution patterns. The results provide valuable insights into the genetic landscape of ASD and outline the genes and biological processes involved in the condition, while taking into account that the study relied exclusively on in silico analyses, which may be subject to biases inherent to database methodologies. Further research incorporating multi-omics data and experimental validation is warranted to enhance our understanding of non-syndromic ASD genetics and facilitate the development of targeted research, interventions and therapies.

Even when perceived as highly qualified, job candidates with autism spectrum disorder (ASD) are less likely to be hired after a job interview than their neurotypical (NT) counterparts. However, when NT individuals receive training about neurodiversity and are aware of an ASD diagnosis, preliminary evidence suggests hiring outcomes for candidates with ASD are significantly more positive, at least when training occurs immediately before evaluation. This study examined whether the benefits of neurodiversity training coupled with diagnostic disclosure extend to the general population and persist over time. Participants included undergraduate students and individuals from the general U.S. population recruited through Prolific. They completed neurodiversity training either two weeks or two months before reviewing taped interviews of job candidates with and without ASD. They rated candidates on several social dimensions (e.g., trustworthiness, likeability, awkwardness) and indicated how likely they were to hire each candidate. Although candidates with ASD were rated less favorably on some social characteristics (e.g., awkwardness, similarity) relative to NT candidates, they were rated similarly on other dimensions (e.g., trustworthiness), and at both delays were just as likely to be hired as NT candidates. These findings suggest that evaluators who engage in neurodiversity training and receive diagnostic information about ASD candidates are favorably inclined to hire ASD candidates, and this positive disposition towards ASD candidates persists for several months after neurodiversity training.

Executive dysfunction has been shown to be a promising endophenotype in neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). This article reviewed 26 studies that examined executive function comparing ASD and/or ADHD children. In light of findings from this review, the ASD + ADHD group appears to share impairment in both flexibility and planning with the ASD group, while it shares the response inhibition deficit with the ADHD group. Conversely, deficit in attention, working memory, preparatory processes, fluency, and concept formation does not appear to be distinctive in discriminating from ASD, ADHD, or ASD + ADHD group. On the basis of neurocognitive endophenotype, the common co-occurrence of executive function deficits seems to reflect an additive comorbidity, rather than a separate condition with distinct impairments.

Autism spectrum disorders (ASD) can present with different onset and timing of symptom development; children may manifest symptoms early in their first year of life, i.e., early onset (EO-ASD), or may lose already achieved skills during their second year of life, thus showing a regressive-type onset (RO-ASD). It is still controversial whether regression represents a neurobiological subtype of ASD, resulting from distinct genetic and environmental causes. We focused this study on the 25 kD synaptosomal-associated protein (SNAP-25) gene involved in both post-synaptic formation and adhesion and considered a key player in the pathogenesis of ASD. To this end, four single nucleotide polymorphisms (SNPs) of the SNAP-25 gene, rs363050, rs363039, rs363043, and rs1051312, already known to be involved in neurodevelopmental and psychiatric disorders, were analyzed in a cohort of 69 children with EO-ASD and 58 children with RO-ASD. Both the rs363039 G allele and GG genotype were significantly more frequently carried by patients with EO-ASD than those with RO-ASD and healthy controls (HC). On the contrary, the rs1051312 T allele and TT genotype were more frequent in individuals with RO-ASD than those with EO-ASD and HC. Thus, two different SNAP-25 alleles/genotypes seem to discriminate between EO-ASD and RO-ASD. Notably, rs1051312 is located in the 3′ untranslated region (UTR) of the gene and is the target of microRNA (miRNA) regulation, suggesting a possible epigenetic role in the onset of regressive autism. These SNPs, by discriminating two different onset patterns, may represent diagnostic biomarkers of ASD and may provide insight into the different biological mechanisms towards the development of better tailored therapeutic and rehabilitative approaches.

Children with autism spectrum disorder (ASD) commonly exhibit comorbid symptoms such as aggression, hyperactivity and anxiety. Several studies are being conducted worldwide on cannabidiol use in ASD; however, these studies are still ongoing, and data on the effects of its use is very limited. In this study we aimed to report the experience of parents who administer, under supervision, oral cannabinoids to their children with ASD. After obtaining a license from the Israeli Ministry of Health, parents of children with ASD were instructed by a nurse practitioner how to administer oral drops of cannabidiol oil. Information on comorbid symptoms and safety was prospectively recorded biweekly during follow-up interviews. An independent group of specialists analyzed these data for changes in ASD symptoms and drug safety. 53 children at a median age of 11 (4-22) year received cannabidiol for a median duration of 66 days (30-588). Self-injury and rage attacks ( = 34) improved in 67.6% and worsened in 8.8%. Hyperactivity symptoms ( = 38) improved in 68.4%, did not change in 28.9% and worsened in 2.6%. Sleep problems ( = 21) improved in 71.4% and worsened in 4.7%. Anxiety ( = 17) improved in 47.1% and worsened in 23.5%. Adverse effects, mostly somnolence and change in appetite were mild. Parents' reports suggest that cannabidiol may improve ASD comorbidity symptoms; however, the long-term effects should be evaluated in large scale studies.

We recently read the interesting and informative paper entitled “Empathic accuracy and cognitive and affective empathy in young adults with and without autism spectrum disorder” (McKenzie et al. in Journal of Autism and Developmental Disorders 52: 1–15, 2021). This paper expands recent findings from our lab (Ben-David in Journal of Autism and Developmental Disorders 50: 741-756, 2020a; International Journal of Audiology 60: 319–321, 2020b) and a recent theoretical framework (Icht et al. in Autism Research 14: 1948–1964, 2021) that may suggest a new purview for McKenzie et al.’s results. Namely, these papers suggest that young adults with autism spectrum disorder without intellectual disability can successfully recruit their cognitive abilities to distinguish between different simple spoken emotions, but may still face difficulties processing complex, subtle emotions. McKenzie et al. (Journal of Autism and Developmental Disorders 52: 1–15, 2021) extended these findings to the processing of emotions in video clips, with both visual and auditory information.

This study aimed to investigate the effects of removing synthetic speech output from speech-generating devices (SGDs) and incorporating delayed reinforcement on verbal requests in children with autism spectrum disorder (ASD) and intellectual disabilities. Additionally, we examined how participants' receptive and expressive language abilities influenced vocal requests by comparing items categorized as easier or more difficult to name based on pre-assessment results. Three children with ASD and intellectual disabilities participated. An alternating treatment design was used to compare two conditions: (1) synthetic speech output with immediate reinforcement and (2) no synthetic speech output with delayed reinforcement. Preferred items were classified into two sets based on pre-assessed receptive and expressive language abilities. The dependent variable was the number of verbal and SGD-based requests. Results showed that verbal requests increased in the no synthetic speech output with delayed reinforcement condition across both item sets, while SGD-based requests remained high. Post-intervention language assessments indicated significant improvements in expressive language abilities. These findings suggest that removing synthetic speech output and incorporating delayed reinforcement may effectively promote vocal requests in children with ASD and intellectual disabilities. This intervention provides a novel approach to facilitate speech communication while continuing the use of AAC tools.

ABSTRACT The presence of students with Autism Spectrum Disorder (ASD) in Basic Education is a reality; however, there is little research about the subject in Education journals. Therefore, the objective of this article was to analyze the scientific literature about ASD and school inclusion in Brazilian medical and psychological journals between 2012 and 2021, in order to identify what has been researched about the topic in these fields. The research uses a qualitative approach, using a literature review. Among the main results, we found that of the 17 articles included in the research corpus, 14 mention the use of strategies to teach students with ASD, and five reveal that participating teachers have negative perceptions of these students. Education. RESUMO A presença de estudantes com Transtorno do Espectro Autista (TEA) na Educação Básica é uma realidade, todavia, são poucas as pesquisas sobre o assunto nos periódicos da área da Educação. Assim, o objetivo deste artigo foi analisar a produção científica sobre o TEA e inclusão escolar nos periódicos brasileiros das áreas médica e psicológica, entre os anos de 2012 a 2021, a fim de identificar o que vem sendo pesquisado sobre o tema nessas áreas. A pesquisa tem abordagem qualitativa, do tipo revisão bibliográfica. Entre os principais resultados, constatamos que dos 17 artigos que fizeram parte do corpus da pesquisa, 14 mencionam o uso de estratégias para ensinar o estudante com TEA e cinco revelam que os professores participantes têm percepções negativas sobre esses estudantes. RESUMEN La presencia de estudiantes con Trastorno del Espectro Autista (TEA) en la educación básica es una realidad, sin embargo, son pocas las investigaciones sobre el tema en los periódicos de las áreas de educación. El objetivo de este artículo fue analizar la producción científica sobre el TEA e inclusión escolar en los periódicos brasileños de las áreas médica el psicológica, entre los años de 2012 y 2021, con la finalidad de identificar lo que se ha investigado sobre el tema en esas áreas. La investigación tiene abordaje cualitativo, del tipo revisión bibliográfica. Entre los principales resultados, constatamos que de los 17 artículos que formaron parte del corpus de la investigación, 14 mencionaron el uso de estrategias para enseñar el estudiante con TEA y cinco apuntan que los profesores participantes presentan percepciones negativas sobre esos estudiantes.