1. Alehagen L, Hasslinger J, Wessman E, Black M, Lundin Remnélius K, Helander J, Zander E, Bölte S. Operationalizing the ICF Core Sets for Autism and ADHD: A Multiple-Methods Feasibility Study. J Autism Dev Disord. 2025.

The International Classification of Functioning, Disability and Health (ICF) is the World Health Organization’s (WHO) standard for assessing individual functioning. Over the last decade, the ICF has been made more accessible for autism and ADHD through the development and validation of tailored shorter ICF versions for these diagnoses, ICF Core Sets. To further enhance their applicability in research and practice, these Core Sets have been operationalized and implemented on an online platform, the ICF CoreSets platform. Here, we describe the iterative development process of the CoreSets platform. This multiple-methods study examines user feedback on the operationalization of the Core Sets and the feasibility of the CoreSets platform as a functional assessment for autism and ADHD. We collected a total of 678 assessments from the CoreSets platform. Individuals diagnosed with autism and/or ADHD, their relatives, participants from the general population, and professionals completed and provided feedback on the usability of the CoreSets platform. Qualitative feedback via interviews and focus groups were also collected. Qualitative data were analysed via content analysis, while quantitative data were examined using univariate and descriptive techniques. Findings show that the ICF CoreSets platform is feasible and user-friendly, but areas for improvement were also indicated, leading to additional refinement of the operationalization and platform. The operationalization of the ICF Core Sets and their implementation in the CoreSets platform appears adequate for use in research and practice, particularly after revisions indicated by future users, and is now ready for psychometric standardization.

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2. Andrews DS, Dakopolos AJ, Lee JK, Heath B, Cordero D, Solomon M, Amaral DG, Nordahl CW. Cortical Thickness Differences in Autistic Children With and Without Intellectual Disability. Autism Res. 2025.

Of the 1 in 36 individuals in the United States who are diagnosed with autism spectrum disorder, nearly 40% also have intellectual disability (ID). The cortex has been widely implicated in neural processes underlying autistic behaviors as well as intellectual ability. Thus, neuroimaging features such as cortical thickness are of particular interest as a possible biomarkers of the condition. However, neuroimaging studies often fail to include autistic individuals with ID. As a result, there are few studies of cortical thickness in autistic individuals across the entire range of intellectual abilities. This study used MRI to evaluate cortical thickness in young autistic children (n = 88, mean age 5.37 years) with a large range of intellectual ability (IQ 19-133) as well as nonautistic, nondevelopmentally delayed (referred to here as typically developing [TD]) peers (n = 53, mean age 5.29 years). We first investigated associations between full scale IQ and cortical thickness in both autistic and TD children. Autistic children had significant negative associations (i.e., thinner cortex, higher IQ) in bilateral entorhinal cortex, right fusiform gyrus, superior, middle and inferior temporal gyri, and right temporal pole that were not present in TD children. Significantly thicker cortex was also observed in these regions for autistic children with ID (i.e., IQ ≤ 70) compared with those without. Last, given the reported correspondence between the severity of autism symptoms and intellectual ability, we compared cortical thickness associations with both IQ and ADOS Calibrated Severity Scores and found these patterns overlapped to a significant degree across the cortex.

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3. Asano H, Arai M, Narita A, Kuroiwa T, Fukuchi M, Yoshimoto Y, Oya S, Miyoshi G. Developmental regression of novel space preference in an autism spectrum disorder model is unlinked to GABAergic and social circuitry. Front Cell Neurosci. 2024; 18: 1513347.

Autism spectrum disorder (ASD) is characterized by social deficits and restricted behaviors, with developmental defects in GABAergic circuits proposed as a key underlying etiology. Here, we introduce the V-Y assay, a novel space preference test in which one arm of the Y-maze is initially hidden and later revealed as a novel space. Using an ASD mouse model with FOXG1 haploinsufficiency, which exhibits ASD-like social impairments that can be either exacerbated or ameliorated by GABAergic circuit manipulations, we observed impaired novel space preference and exploratory behavior in the V-Y assay. Interestingly, unlike social phenotypes, novel space preference was initially established by 3 weeks of age but regressed by 6 weeks. Furthermore, alterations in GABAergic signaling via Gad2 mutation did not affect novel space preference, in contrast to their impact on social behaviors. These findings reveal that the regression of novel space preference in ASD follows a distinct developmental trajectory from GABA-driven social impairments, providing new insights into the mechanisms underlying ASD.

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4. Cortese S, Bellato A, Gabellone A, Marzulli L, Matera E, Parlatini V, Petruzzelli MG, Persico AM, Delorme R, Fusar-Poli P, Gosling CJ, Solmi M, Margari L. Latest clinical frontiers related to autism diagnostic strategies. Cell Rep Med. 2025: 101916.

The diagnosis of autism is currently based on the developmental history, direct observation of behavior, and reported symptoms, supplemented by rating scales/interviews/structured observational evaluations-which is influenced by the clinician’s knowledge and experience-with no established diagnostic biomarkers. A growing body of research has been conducted over the past decades to improve diagnostic accuracy. Here, we provide an overview of the current diagnostic assessment process as well as of recent and ongoing developments to support diagnosis in terms of genetic evaluation, telemedicine, digital technologies, use of machine learning/artificial intelligence, and research on candidate diagnostic biomarkers. Genetic testing can meaningfully contribute to the assessment process, but caution is required when interpreting negative results, and more work is needed to strengthen the transferability of genetic information into clinical practice. Digital diagnostic and machine-learning-based analyses are emerging as promising approaches, but larger and more robust studies are needed. To date, there are no available diagnostic biomarkers. Moving forward, international collaborations may help develop multimodal datasets to identify biomarkers, ensure reproducibility, and support clinical translation.

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5. Cuesta-Gómez JL, Gatica-Bahamonde G, Ruggieri V, Roman-Urrestarazu A, van Kessel R. COVID-19, Autism, and Isolation: Good Practices for Continuity of Care During the Pandemic. Soc Work Public Health. 2025: 1-14.

The COVID-19 pandemic, and particularly the associated conditions of isolation, has detrimental effects on the mental health of the population that are not yet fully understood. Variables such as individual stress, anxiety, and tolerance to uncertainty may play a role in the ability of individuals to adapt to the isolation situation. In this context, it is necessary to pay attention to population groups that present difficulties in adapting to this situation of uncertainty, such as people with autism. This narrative review of the evidence has as objectives to explore (1) the effect that the autism community has experienced as a result of the lockdown and isolation due to COVID-19; and (2) opportunities for health, educational, and social services providers to support people with autism and their families in isolation in an attempt to ensure that specialized interventions continue as much as possible. We map suggestions regarding information delivery, time management at home, recognition and emotional expression, and some suggestions to maintain support with service providers.

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6. da Rosa A, da Costa MRB, Sorato GB, Manjabosco FM, de Bem É B, Dellazari L, Falcão AB, Cia LO, Bezerra OS, Borges RB, Rohde LA, Graeff-Martins AS. Clozapine for Treatment-Resistant Disruptive Behaviors in Youths With Autism Spectrum Disorder Aged 10-17 Years: Protocol for an Open-Label Trial. JMIR Res Protoc. 2025; 14: e58031.

BACKGROUND: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition emerging in early childhood, characterized by core features such as sociocommunicative deficits and repetitive, rigid behaviors, interests, and activities. In addition to these, disruptive behaviors (DB), including aggression, self-injury, and severe tantrums, are frequently observed in pediatric patients with ASD. The atypical antipsychotics risperidone and aripiprazole, currently the only Food and Drug Administration-approved treatments for severe DB in patients with ASD, often encounter therapeutic failure or intolerance. Given this, exploring pharmacological alternatives for more effective management of DB associated with ASD is essential. Clozapine, noted for its unique antiaggressive effects in schizophrenia and in various treatment-resistant neuropsychiatric disorders, independent from its antipsychotic efficacy, remains underexplored in youths with ASD facing severe and persistent DB. OBJECTIVE: This study aimed to evaluate the efficacy, tolerability, and safety of clozapine for treatment-resistant DB in youths with ASD. METHODS: This is a prospective, single-center, noncontrolled, open-label trial. After a cross-titration phase, 31 patients with ASD aged 10-17 years and with treatment-resistant DB received a flexible dosage regimen of clozapine (up to 600 mg/day) for 12 weeks. Standardized instruments were applied before, during, and after the treatment, and rigorous clinical monitoring was performed weekly. The primary outcome was assessed using the Irritability Subscale of the Aberrant Behavior Checklist. Other efficacy measures include the Clinical Global Impression Severity and Improvement, the Swanson, Nolan, and Pelham questionnaire-IV, the Childhood Autism Rating Scale, and the Vineland Adaptive Behavior Scale. Safety and tolerability measures comprised adverse events, vital signs, electrocardiography, laboratory tests, physical measurements, and extrapyramidal symptoms with the Simpsons-Angus Scale. Statistical analysis will include chi-square tests with Monte Carlo simulation for categorical variables, paired t tests or Wilcoxon tests for continuous variables, and multivariate linear mixed models to evaluate the primary outcome, adjusting for confounders. RESULTS: Recruitment commenced in February 2023. Data collection was concluded by April 2024, with analysis ongoing. This article presents the protocol of the initially planned study to provide a detailed methodological description. The results of this trial will be published in a future paper. CONCLUSIONS: The urgent need for effective pharmacological therapies in mitigating treatment-resistant DB in pediatric patients with ASD underscores the importance of this research. Our study represents the first open-label trial to explore the anti-aggressive effects of clozapine in this specific demographic, marking a pioneering step in clinical investigation. Adopting a pragmatic approach, this trial protocol aims to mirror real-world clinical settings, thereby enhancing the applicability and relevance of our findings. The preliminary nature of future results from this research has the potential to pave the way for more robust studies and emphasize the need for continued innovation in ASD treatment. TRIAL REGISTRATION: Brazilian Clinical Trials Registry RBR-54j3726; https://ensaiosclinicos.gov.br/rg/RBR-54j3726. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/58031.

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7. Ding W, Xu Y, Ding W, Tang Q, Zhang B, Yuan Y, Jin J. Research progress on melatonin, 5-HT, and orexin in sleep disorders of children with autism spectrum disorder. Biomol Biomed. 2025; 25(3): 525-33.

Sleep disorders are among the common comorbidities of autism spectrum disorder (ASD), which not only affect the daily life and learning ability of children but may also exacerbate other symptoms of ASD, seriously impacting the quality of life of children and their families. Given this, understanding the neurobiological mechanisms of sleep disorders in children with ASD has significant research value for developing effective intervention strategies. Melatonin, 5-hydroxytryptamine (5-HT), and orexin are key neurotransmitters that regulate the sleep-wake cycle. Through in-depth analysis of the biological functions and regulatory pathways of these neurotransmitters, new perspectives may be provided for personalized treatment of sleep disorders in children with ASD. This article reviews the research progress on melatonin, 5-HT, and orexin in sleep disorders among children with ASD, focusing on exploring the mechanisms of these key neurotransmitters in sleep disorders of children with ASD and how they affect the sleep-wake cycle, providing a theoretical basis for improving the sleep quality of children with ASD.

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8. Hamilton A, Sachse C, Sottile E, Jacob R. Enhancing Medical Education for the Care of Patients with Intellectual and Developmental Disabilities: The Role of Specialized Training and Early Exposure. South Med J. 2025; 118(2): 111-3.

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9. Katz TC, Khan TR, Chaponis O, Tomczak KK. Repetitive but Not Interchangeable: Similarities and Differences in the Repetitive Behaviors of Tourette Syndrome, Obsessive-Compulsive Disorder, Tourettic Obsessive-Compulsive Disorder, and Autism Spectrum Disorder. Psychiatr Clin North Am. 2025; 48(1): 165-80.

Repetitive behaviors are the hallmark of many neuropsychiatric disorders, including Tourette syndrome (TS), obsessive-compulsive disorder (OCD), and autism spectrum disorder (ASD). Tics, compulsions, and stereotypies may appear similar and can be difficult to disentangle. This review addresses similarities and differences between these behaviors including clinical presentations, neuroimaging, genetics, and treatment paradigms in order to clarify the relationship between these disorders. The extensive genetic and neurocircuitry-based similarities raise the possibility that in some cases TS and OCD may represent a single neuropsychiatric entity, such as Tourettic OCD, that lies along the impulsive-compulsive spectrum.

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10. Nascimento A, Souto DO, Cruz TKF, de Lima AFB, Oliveira GS, Haase VG. Benefits of the Global Integration Method (Método de Integração Global – MIG) in functional priorities of parents of Brazilian children and adolescents with autism spectrum disorder. BMC Pediatr. 2025; 25(1): 75.

BACKGROUND: Understanding the priorities of parents of children and adolescents with autism spectrum disorder (ASD) is crucial for implementing evidence-based programs. This study aims to identify the functional priorities of parents of Brazilian children and adolescents with ASD, analyze variations in priorities according to the levels of support and age groups of the participants, and categorize the goals according to the categories of the International Classification of Functioning, Disability, and Health (ICF). Additionally, this study aimed to evaluate changes in parents’ performance and satisfaction with functional priorities after intervention with the Global Integration Method (Métodode Integração Global – MIG). METHODS: A total of 241 children/adolescents with ASD (mean age, 6.92 ± 3.61 years) were recruited from different regions of Brazil. 76% (76%) were male, and 40.7% were classified as having support level 2. The Canadian Occupational Performance Measure was administered to parents/caregivers to identify their priorities for their children and to assess changes in performance and satisfaction with priorities after intervention with MIG. The MIG protocol consisted of functional task training in a naturalistic environment (City of Tomorrow) combined with the use of a flexible therapeutic suit (MIG Flex) and was conducted for 3 months, five times a week, for 3-4 h per day. Descriptive statistics were used to provide the priority profile. Pre- and post-intervention data were analyzed using paired t-test. RESULTS: Parents established 1,203 functional priorities. Activities of daily living, behavioral difficulties, communication, play, and social interactions were the main functional priorities in the perception of parents/caregivers. The profiles of functional priorities were similar between the different levels of support and age groups. Approximately 64% of the priorities were classified in the activity domain of the ICF. In general, the MIG program resulted in significant improvements in performance and satisfaction for the majority of functional priorities (p < 0.05). CONCLUSION: Activities of daily living appear to be the main priority of parents of children and adolescents with ASD, regardless of the level of support or age group. The MIG program has been associated with improvements in performance and satisfaction across several of the functional priorities identified by parents.

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11. Nishizaki SS, Haghani NK, La GN, Mariano NAF, Uribe-Salazar JM, Kaya G, Regester M, Andrews DS, Nordahl CW, Amaral DG, Dennis MY. m(6)A-mRNA Reader YTHDF2 Identified as a Potential Risk Gene in Autism With Disproportionate Megalencephaly. Autism Res. 2025.

Among autistic individuals, a subphenotype of disproportionate megalencephaly (ASD-DM) seen at three years of age is associated with co-occurring intellectual disability and poorer prognoses later in life. However, many of the genes contributing to ASD-DM have yet to be delineated. In this study, we identified additional ASD-DM candidate genes with the aim to better define the genetic etiology of this subphenotype of autism. We expanded the previously studied sample size of ASD-DM individuals ten fold by including probands from the Autism Phenome Project and Simons Simplex Collection, totaling 766 autistic individuals meeting the criteria for megalencephaly or macrocephaly and revealing 154 candidate ASD-DM genes harboring de novo protein-impacting variants. Our findings include 14 high confidence autism genes and seven genes previously associated with DM. Five impacted genes have previously been associated with both autism and DM, including CHD8 and PTEN. By performing functional network analysis, we expanded to additional candidate genes, including one previously implicated in ASD-DM (PIK3CA) as well as 184 additional genes connected with ASD or DM alone. Using zebrafish, we modeled a de novo tandem duplication impacting YTHDF2, encoding an N6-methyladenosine (m(6)A)-mRNA reader, in an ASD-DM proband. Testing zebrafish CRISPR knockdown led to reduced head/brain size, while overexpressing YTHDF2 resulted in increased head/brain size matching that of the proband. Single-cell transcriptomes of YTHDF2 gain-of-function larvae point to reduced expression of Fragile-X-syndrome-associated FMRP-target genes globally and in the developing brain, providing insight into the mechanism underlying autistic phenotypes. We additionally discovered a variant impacting a different gene encoding an m(6)A reader, YTHDC1, in our ASD-DM cohort. Though we highlight only two cases to date, our study provides support for the m(6)A-RNA modification pathway as potentially contributing to this severe form of autism.

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12. Pagán AF, Pagán AL, Hernandez L, Cribbet MR, Loveland KA, Acierno R. Bridging Gaps: Enhancing Sleep and Health Disparities in Latino Families with Young Adults with Autism Using a Culturally Adapted Intervention. J Racial Ethn Health Disparities. 2025.

The present study examined the effects of a culturally adapted intervention, ¡Iniciando! la Adultez, on sleep and health-related quality of life (HRQoL) in Latino young adults with autism spectrum disorder (ASD) and their Spanish-speaking parents. The intervention targeted the transition to adulthood, a period associated with increased challenges in sleep and HRQoL, particularly for underserved Latino populations. Participants included 26 young adults and 38 parents who completed assessments at baseline and post-treatment. The results indicated significant improvements in several HRQoL domains for both groups, with young adults reporting enhanced emotional well-being, social functioning, and general health. Parents experienced notable improvements in subjective sleep quality, sleep latency, and global sleep quality, alongside enhanced emotional well-being and general health. Correlational analyses revealed significant associations between baseline sleep quality and post-treatment HRQoL, acculturative stress, and mental health outcomes, suggesting the interconnectedness of these factors. Parents generally reported poorer sleep and HRQoL than young adults at both time points, highlighting the ongoing challenges they face. Despite some improvements, overall sleep quality remained suboptimal, emphasizing the need for further refinement of interventions. This study underscores the importance of culturally tailored approaches in addressing the unique needs of Latino families affected by ASD and highlights the potential benefits of such interventions in improving sleep and HRQoL. Future research should explore the long-term sustainability of these improvements and address the remaining gaps in sleep quality. The findings contribute to a growing body of evidence supporting the need for culturally sensitive interventions in promoting well-being in marginalized communities.

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13. Rajagopal T, Chandrashekaran V. « Leaving no one behind »: digital empathy and inclusive media literacy education for young adults on the autism spectrum. Int J Dev Disabil. 2025; 71(1): 190-202.

The paper advocates for the necessity of inclusive media literacy education (MLE) and equal opportunities for young adults with autism spectrum disorder (ASD), which is in alignment with the United Nations Convention on the Rights of Persons with Disabilities (UNCRPD) 2008 and the Sustainable Development Goal 4 Quality Education (SDG, 2030). It underscores the commitment to ‘leaving no one behind’, a core tenet of the SDGs, by focusing on developing digital empathy and inclusive MLE for young adults with ASD in the digital age. The study aims to empower young adults with ASD in Chennai, India, with media literacy and digital empathy through a one-day hands-on workshop and to assess the impact of this educational intervention on their understanding and application of media literacy in their daily lives. The paper employs a mixed-method approach that integrates experimental-qualitative research and the data is analysed using ‘qualitative reflexive’ thematic analysis. The study’s findings demonstrate significant improvements in the participants’ abilities to discern fake news, learn digital empathy and cybersecurity by engaging responsibly with digital media, and include MLE in their academic curriculum. The paper suggests that such educational interventions can enhance digital empathy and media literacy among young adults with ASD.

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14. Wei LC, Sung CH. Expanding Perspectives on Visual Mental Imagery in Autism: Aphantasia, Enhanced Abilities, and Future Directions. Autism Res. 2025.

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15. Zhao H, Lou H, Yao L, Zhang Y. Diffusion transformer-augmented fMRI functional connectivity for enhanced autism spectrum disorder diagnosis. J Neural Eng. 2025.

Objective.Functional magnetic resonance imaging (fMRI) is often modeled as networks of Regions of Interest (ROIs) and their functional connectivity to study brain functions and mental disorders. Limited fMRI data due to high acquisition costs hampers recognition model performance. We aim to address this issue using generative diffusion models for data augmentation.Approach.We propose Brain-Net-Diffusion, a transformer-based latent diffusion model to generate realistic functional connectivity for augmenting fMRI datasets and evaluate its impact on classification tasks.Main results.The Brain-Net-Diffusion effectively generates connectivity patterns resembling real data and significantly enhances classification performance. Augmentation using Brain-Net-Diffusion increased downstream Autism Spectrum Disorder (ASD) classification accuracy by 4.3% compared to no augmentation. It also outperformed other augmentation methods, with accuracy improvements ranging from 1.3% to 2.2%.Significance.Our approach demonstrates the effectiveness of diffusion models for fMRI data augmentation, providing a robust solution for overcoming data scarcity in functional connectivity analysis. To facilitate further research, we have made our code publicly available at https://github.com/JoeZhao527/brain-net-diffusion.

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16. Zheng X, Wang X, Song R, Tian J, Yang L. Executive function, limbic circuit dynamics and repetitive and restricted behaviors in children with autism spectrum disorder. Front Neurosci. 2024; 18: 1508077.

OBJECTIVE: Repetitive and restricted behaviors (RRBs) are a core symptom of autism spectrum disorder (ASD), but effective treatment approaches are still lacking. Executive function (EF) has been identified as a promising target, as research increasingly shows a link between EF deficits and the occurrence of RRBs. However, the neural mechanisms that connect the two remain unclear. Since the orbitofrontal cortex (OFC) plays a role in both EF and RRBs, its functional connectivity dynamics could offer valuable insights into this relationship. METHODS: This study analyzed data from the Autism Brain Imaging Data Exchange (ABIDE) II database to explore brain function in 93 boys with ASD and 110 typically developing (TD) boys. Time-varying functional connectivity was analyzed between eight OFC subregions and other brain areas. By employing linear regression, the study assessed how atypical connectivity dynamics and EF influence RRBs. Additionally, mediation analysis with bootstrapping was used to determine how EF mediates the relationship between atypical connectivity and RRBs. RESULTS: We found significant differences in the variance of FC between ASD and TD groups, specifically in the OFC subregion in L-prefrontal and the left amygdala (t = 5.00, FDR q < 0.01). Regression analyses revealed that increased variance of this FC and EF significantly impacted RRBs, with inhibition, emotional control, and monitor showing strong associations (standardized β = 0.60 to 0.62, p < 0.01), which also had significant indirect effects on the relationship between the above dynamic FC and RRBs, which accounted for 59% of the total effect. CONCLUSION: This study highlights the critical role of EFs as a key mechanism in addressing RRBs in ASD. Specifically, it points out that EFs mediate the influence of atypical time-varying interactions within the OFC-amygdala circuit on RRBs.

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