1. The utility of the term ‘Rett-like’ in relation to Rett syndrome: A systematic review. Dev Med Child Neurol. 2026.

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2. Agostinho D, Borra D, Castelo-Branco M, Simões M. Explainable fMRI decoding reveals neurobiological signatures of emotional arousal complementary to traditional analyses. J Neural Eng. 2026; 23(5).

Objective.Understanding how emotional arousal is represented in the brain is fundamental for elucidating affective regulation and its alterations in autism spectrum disorder. Classical neuroimaging approaches, such as the general linear model (GLM), have provided important insights into emotional processing. However, the extent to which data-driven decoding and traditional model-based analyses provide complementary information about emotional arousal remains unclear.Approach.We introduce an explainable artificial intelligence framework that combines the lightweight functional magnetic resonance imaging (fMRI) decoder (fMRINet) with Deep Learning Important FeaTures to derive data-driven neurobiological signatures of emotional arousal. The framework enables interpretation of spatiotemporal neural contributions during emotional processing. We applied the framework to fMRI data acquired while neurotypically and autistic participants viewed naturalistic emotional videos and compared the resulting signatures with categorical and parametric GLM analyses.Main results.The framework identified distinct spatiotemporal neurobiological signatures associated with emotional arousal. Neurotypical participants engaged a distributed perceptual-limbic-prefrontal network under high arousal and frontoparietal executive regions under low arousal. In contrast, autistic participants exhibited a more spatially restricted and posterior-biased pattern under high arousal, with reduced ventromedial prefrontal and limbic contributions, while low-arousal patterns resembled typically developing, suggesting preserved executive mechanisms during low-arousal processing. The GLM analyses revealed partly convergent and partly distinct findings: categorical GLM detected no significant group differences, whereas parametric GLM identified widespread cortical-subcortical modulation in neurotypical individuals and cerebellar-restricted effects in autistic, consistent with compensatory reliance on motor-timing circuits.Significance. The proposed framework provides an interpretable, data-driven perspective on emotional processing and reveals neurobiologically plausible patterns consistent with existing literature. Together, the explainable decoding and GLM results highlight complementary aspects of emotional arousal processing, suggesting that explainable decoding approaches may provide additional insights alongside traditional model-based neuroimaging analyses.

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3. Asadi S, Karamali Esmaili S, Lajevardi L, Roohi-Azizi M, Shirazi E, Abolghasemi J. Developing and Validating a Parent Guide to Improve Sleep in Children with Autism Spectrum Disorder: Emphasis on the Holistic Approach to Self-Regulation Strategies. Med J Islam Repub Iran. 2026; 40: 27.

BACKGROUND: Autism spectrum disorder (ASD) frequently coexists with sleep problems. This study, guided by family-centered and general systems theories and acknowledging the reciprocal relationships between sleep and self-regulation, details the process of designing a parent guide aimed at improving sleep in children aged 6-12 years diagnosed with level 1 or 2 ASD. METHODS: A literature search was conducted to identify interventions that emphasize self-regulation strategies aimed at improving children’s sleep. The content and face validity of this guide were evaluated based on the opinions of experts and parents. In a pilot study, the guide was presented to parents of children with ASD (n = 3) in the form of a booklet, and its effectiveness was assessed through caregiver feedback and the Children’s Sleep Habits Questionnaire (CSHQ). RESULTS: The booklet comprises 23 subtitles organized into four chapters: « Introductory Information, » « Child-Related Factors, » « Environment-Related Factors, » and « Impact of Other Activities on Sleep. » In this feasibility pilot (n=3), minor reductions (2-3 points) in CSHQ scores were observed; however, this magnitude of change is below typical minimal clinically important differences, and the study was not designed to assess efficacy. CONCLUSION: The development of a parent guide for sleep of children with ASD was driven by the need to address self-regulatory strategies across three interrelated dimensions: the child, the environment, and sleep itself. This approach is superior to single-domain interventions that do not adequately consider the complex interplay of self-regulation deficits in ASD. This study provides initial evidence for the viability and promise of this intervention, paving the way for definitive future trials.

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4. Baker M, Lam WY, Virtosu M, de Lacy N. Suicide attempt risk in autism: a national EHR study of 2.3 million individuals. Front Psychiatry. 2026; 17: 1940193.

BACKGROUND: Suicide attempts (SA) are elevated in individuals with autism spectrum disorder (ASD), but population-level data characterizing how SA prevalence varies across demographic and clinical subgroups – at the scale and granularity needed to inform evidence-based risk stratification – have been largely unavailable. This study examines SA prevalence across sex, age group, psychiatric comorbidity type, and substance use disorder subtype in the largest real-world ASD cohort to date. METHODS: We conducted a retrospective cross-sectional analysis using Epic Cosmos electronic health record data from 2,311,171 individuals with ASD identified by International Classification of Diseases, Tenth Revision, Clinical Modification (ICD-10-CM) codes, spanning 2016-2025. SA prevalence was calculated with Wilson score 95% confidence intervals. Modified Poisson regression with robust variance estimation was used to estimate adjusted prevalence ratios (aPRs) for sex, age group, and psychiatric comorbidity. Unadjusted prevalence ratios (uPRs) were calculated separately for individual comorbidity types and substance use disorder subtypes. Supplementary sensitivity analyses were conducted to examine SA prevalence by intellectual disability (ID) status and race/ethnicity. RESULTS: Overall SA prevalence was 1.7% (38,160 individuals). Females showed higher SA prevalence than males (2.9% vs. 1.2%; aPR 1.61, 95% CI 1.35-1.92). SA prevalence peaked in the 15-24 age group overall (aPR 5.14, 95% CI 3.62-7.29), with sex-stratified analyses revealing that females peaked earlier (15-24 years; aPR 4.33, 95% CI 4.23-4.43) than males (25-34 years; aPR 6.08, 95% CI 5.05-7.31) – a sex-specific divergence in the timing of peak SA prevalence not previously documented in ASD. Having at least one psychiatric comorbidity was associated with a 30-fold higher SA prevalence (aPR 30.56, 95% CI 26.03-35.89), with the effect stronger in females (aPR 36.54, 95% CI 31.04-43.01) than males (aPR 27.77, 95% CI 22.65-34.06). Among comorbidity categories, substance-related disorders showed the highest crude SA prevalence (16.9%; uPR 134.20, 95% CI 67.68-266.10). Substance use disorder subtype analysis revealed SA prevalence ranging from 19.7% to 24.3% across all five substance use disorder subtypes examined, with stimulant use disorder showing the highest unadjusted prevalence ratio of any subtype (uPR 196.11, 95% CI 100.63-382.20). In supplementary sensitivity analyses, SA prevalence was higher among individuals with ID (2.37-2.38%) than without (1.58%) and ranged by race/ethnicity from 0.65-0.92% (Non-Hispanic Other Race) to 2.25-2.28% (Non-Hispanic Multi-race). CONCLUSION: SA prevalence in ASD is markedly elevated relative to the general population and varies meaningfully by sex, age, comorbidity profile, intellectual disability status, and race/ethnicity in clinically important ways. Females carry a disproportionate SA burden relative to males, with peak vulnerability arriving earlier in adolescence; males peak later in young adulthood and remain at elevated risk into midlife. Psychiatric comorbidity – particularly substance use disorders – is associated with the largest relative elevations in SA prevalence. In supplementary analyses, individuals with intellectual disability showed elevated SA prevalence relative to those without, and prevalence varied substantially by race/ethnicity, with the highest burden observed among Non-Hispanic Multi-race individuals. These population-level estimates are directly applicable to EHR-based risk stratification models and can inform the development of ASD-specific clinical decision support tools that concentrate surveillance and intervention on those at demonstrably elevated risk, rather than applying uniform approaches across a heterogeneous population.

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5. Caron V, Courcy I, Soulières I. A Comprehensive Toolkit to Support Self-Report Questionnaires for Autistic Adults With Cognitive Disability. J Appl Res Intellect Disabil. 2026; 39(5): e70316.

OBJECTIVES: Autistic individuals with cognitive disability are underrepresented in research using self-report measures. This study aimed to develop a toolkit of customizable accommodations to facilitate self-report and to explore its usability through implementation with quality of life (QoL) questionnaires. METHODS: A consultation process in three rounds was conducted with 10 experts in autism and/or cognitive disability to identify accommodations. The resulting accommodations were implemented with QoL questionnaires (WHOQoL-BREF-ID, WHOQoL-DIS-ID, ASQoL). Twenty-two autistic participants with cognitive disability, accompanied by a parent, completed the questionnaires. Feedback interviews explored participants’ experiences with the accommodations. RESULTS: Sixty-four accommodations and a cross-cutting concern: the need for a flexible protocol were retained in the toolkit. Feedback supported the usefulness of several accommodations while highlighting areas for improvement. CONCLUSIONS: This toolkit facilitates self-report among autistic individuals with cognitive disabilities, which is crucial for valid QoL assessments and development of relevant services. Autistic individuals with intellectual disabilities, who are minimally speaking or have below‐average intellectual functioning, are often excluded from scientific research. This is particularly the case in studies using self‐report questionnaires, which are questionnaires that people complete themselves to describe their own experiences. Indeed, usual questionnaires are often not accessible due to complex wording, abstract concepts or response formats. This is problematic because self‐report is essential when assessing personal experiences such as quality of life (QoL), which refers to how people feel about different aspects of their lives. We developed a toolkit of 64 accommodations to help individuals better understand questions and share their responses. We then used the toolkit to adapt three QoL questionnaires. Twenty‐two autistic participants with cognitive disabilities completed the adapted questionnaires. Findings suggest that autistic participants can complete questionnaires themselves when researchers provide accommodations to meet their needs. Participants identified many helpful accommodations and ongoing challenges, particularly with questions involving abstract concepts. eng.

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6. Chakraborti A, Singhi AK. Transcatheter ASD Closure in a Bidirectional Cardiopulmonary Diagnostic Blind Spot: When Dyspnea Does Not Fit. JACC Case Rep. 2026; 31(41): 109757.

BACKGROUND: Dyspnea in adults with secundum atrial septal defect (ASD) is often attributed to shunt physiology, whereas coexisting airway disease may remain unrecognized. Conversely, clinically significant ASD may be overlooked in patients presenting with predominant respiratory symptoms, creating a bidirectional cardiopulmonary diagnostic blind spot. CASE SUMMARY: We retrospectively identified 8 adults (median age 55.5 years; 5 women) with secundum ASD (15-30 mm) and clinically significant airway disease through bidirectional cardiology-pulmonology referral (6 cardiology-to-pulmonology; 2 pulmonology-to-cardiology). Airway physiology was obstructive in 6, restrictive in 1, and mixed in 1, with bronchodilator reversibility in 5. Integrated cardiopulmonary evaluation and respiratory optimization improved symptom attribution and guided individualized management. Seven patients underwent transcatheter ASD closure (median device size, 38 mm), including fenestrated closure in 2 after balloon occlusion testing identified impaired left ventricular compliance; 1 deferred closure after symptomatic improvement with respiratory therapy alone. No procedural complications occurred, and 1 noncardiac death occurred 5 years after intervention. TAKE-HOME MESSAGES: Dyspnea in adults with ASD may reflect combined cardiac and airway disease. Disproportionate symptoms should prompt integrated cardiopulmonary evaluation. Accurate symptom attribution underpins respiratory optimization and individualized ASD closure.

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7. Clifford A, Howarth L. Approaches informed by family empowerment can be effective in addressing experiences of stigma among parents of autistic children. Evid Based Nurs. 2026.

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8. Cofsky NI, Binder MS. Atypical Early Life Ultrasonic Vocalizations Disrupt the Pup-Dam Communication Dyad in the BTBR Model of Autism Spectrum Disorder. Behav Brain Res. 2026: 116527.

Alterations in early-life communication are a defining feature of autism spectrum disorder (ASD). While these deficits are well conserved in mouse models, few studies have assessed how aberrations in neonatal vocalizations affect maternal behaviors and disrupt the pup-dam communication dyad. To better elucidate the consequences of altered communication in ASD models, we assessed ultrasonic vocalization (USV) production in pups and the corresponding retrieval behaviors in dams using C57 and BTBR (autistic-like) mice. We first used the pup’s dam as the retriever and found that BTBR dams retrieved significantly fewer pups than C57 dams. We then used a novel C57 dam as the retriever and found that BTBR pups were retrieved significantly slower than C57 pups. Follow up analyses detected positive correlations between call duration and retrieval time and amplitude and retrieval time in BTBR pups. Similarly, we found that C57 mice that were retrieved the fastest had calls of a different amplitude than slowly retrieved mice. In the BTBR model, we found that faster retrieved mice produced shorter calls with a higher pitch than slowly retrieved mice, displaying call characteristics more similar to C57 pups. Lastly, we found that a more diverse call type repertoire was associated with a faster retrieval time. Overall, our study demonstrates that altered USV production significantly affects the pup-dam communication dyad. Furthermore, we identified the USV duration, amplitude, and a more diverse call type repertoire as being critical factors underlying maternal retrieval.

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9. Cutrer-Párraga EA, Ditto S, Seu L, Hull IM, Allen GEK, Winters RR, Kanuch OH, Hee C, Garrett MF, Urbina KJ. « We’re Trapped »: Maternal Well-Being and Caregiving for Children With Developmental Disabilities in American Samoa. Qual Health Res. 2026: 10497323261479883.

Mothers raising children with developmental disabilities in American Samoa navigate caregiving within fa’a Samoa (the Samoan way of life), where family, culture, and spirituality are deeply intertwined. Yet, the lived experiences of these mothers remain largely undocumented. This study explored how mothers make meaning of caregiving and its implications for holistic well-being within this unique cultural and geographic context. Using interpretative phenomenological analysis with culturally congruent focus group methods, 15 mothers participated across three focus groups. Data were interpreted through the Fonofale model, a Pacific framework conceptualizing well-being through interconnected cultural, spiritual, physical, mental, and familial dimensions. Two superordinate themes emerged: (a) impossible choices between inadequate on-island services and family-fragmenting off-island care and (b) painful tensions between cultural expectations of obedience and children’s disability-related behaviors, often leading to stigma and isolation. Across both themes, mothers described strain across every dimension of the Fonofale, revealing caregiving as a totalizing experience affecting cultural belonging, family integrity, spiritual life, and emotional well-being. Findings highlight the need for culturally embedded developmental disability supports that strengthen rather than fracture Pacific family and community systems.

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10. De Chiara S, Di Somma A, Mazziotti V, Coppola S, Oglio F, Tammaro L, Riccio MP, Bravaccio C, Molinaro A, Berni Canani R, Di Lorenzo F. Functional Heterogeneity of the Autism Spectrum Disorder-Associated Gut Microbial Ecosystem Revealed by Fecal Lipopolysaccharides and Bacterial Proteomic Profiling. Chembiochem. 2026; 27(19): e70557.

The etiology of pediatric autism spectrum disorder (ASD) has been increasingly linked to alterations in the gut-brain axis, highlighting the intricate bidirectional communication between gut microbiota and central nervous system. The molecular mechanisms of this communication are poorly understood. Here we investigated whether ASD-associated gut microbiota could exhibit altered inflammatory molecular outputs by integrating chemistry-driven profiling of fecal lipopolysaccharides (LPS), functional bacterial proteomics, and neuroimmune cellular assays. Structural analyses revealed that LPS from non-autistic healthy donors (NASD) displayed highly conserved carbohydrate and lipid A signatures dominated by hypo-acylated mono-phosphorylated species typically associated with immunomodulatory Bacteroides-derived LPS. In contrast, LPS from ASD children exhibited increased structural heterogeneity. These molecular alterations were functionally reflected in human HMC3 microglial cells, where ASD-derived fecal LPS induced stronger IL-6 and IL-8 release compared with NASD-derived LPS, indicating enhanced neuroinflammatory potential. Functional proteomic profiling disclosed broadly comparable microbial compositions but marked metabolic divergence. These findings suggest that gut microbiota in ASD children are associated with a functionally heterogeneous microbial ecosystem characterized by altered immunostimulatory molecular outputs despite the absence of massive taxonomic shifts, with potential relevance for neuroimmune dysregulation.

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11. Dowling A, Moxey E, Keenan M, Hong JS. A Preschooler With Severe Social Anxiety and Selective Mutism Versus Autism Spectrum Disorder. Clin Case Rep. 2026; 14(10): e73706.

Selective mutism (SM) and severe social anxiety can mimic autism spectrum disorder (ASD) when assessment relies heavily on observations in unfamiliar contexts. Multidisciplinary assessments comparing social interaction and communication across familiar and unfamiliar contexts may help prevent misdiagnosis. While autism-like behaviors are restricted to anxiety-provoking contexts in SM and severe social anxiety, ASD is characterized by pervasive social deficits across relationships and settings.

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12. Drillings IM, Jones SE. Preoperative Sedation via Cecostomy Tube in an Autistic Adolescent: A Case Report. A A Pract. 2026; 20(10): e02313.

Preoperative sedation of autistic children is frequently complicated by challenges in communication, sensory processing, and participation in medical care. We report a 40-kg, 13-year-old autistic boy with a preexisting cecostomy tube for chronic constipation, in whom previous oral and intramuscular sedation had failed due to agitation and physical aggression. Midazolam 10 mg (0.25 mg/kg) and ketamine 200 mg (5 mg/kg) were administered via cecostomy tube, producing sedation within 20 minutes. Dental rehabilitation under general anesthesia proceeded uneventfully. Cecal administration of sedatives may be a feasible option when conventional routes are poorly tolerated, although absorption, dosing, and reproducibility remain uncertain.

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13. Harne V, Fatheree NY, Serrano AV, Okeugo B, Fadhel Alvarez A, Hessabi M, Tahanan A, Mansour R, Navarro F, Imseis E, Nair S, Gleason WA, Van Arsdall MR, Mai T, Armbrister SA, Giorgberidze S, Rahbar MH, Lee M, Pearson DA, Luna RA, Liu Y, Rhoads JM. Gut microbiota are linked to gastrointestinal symptoms and behavioral changes but not inflammation in autism spectrum disorder: a cross-sectional analysis. Pediatr Res. 2026.

BACKGROUND: Gastrointestinal (GI) symptoms are increased in children with autism spectrum disorder (ASD). We examined the relationship between ASD severity, intestinal inflammation, gut permeability, and dysbiosis. METHODS: Our cross-sectional study examined baseline data from a clinical trial and included stools from typically developing (TD) controls and siblings. GI symptom severity was assessed using GI severity index (GSI) with Bristol stool scoring, while ASD symptoms were quantified using Social Responsiveness Scale (SRS-2). Biomarkers including plasma zonulin, occludin, and S100A9, and fecal calprotectin levels, were measured to assess intestinal permeability and inflammation. Fecal microbiota was analyzed using 16S rRNA sequencing. RESULTS: Seventy-two children with ASD were included for biomarker analysis, and 135 children’s stools for microbiome analysis. A statistically significant correlation was observed between GSI and SRS-2 scores (p = 0.02). GSI and SRS-2 scores did not correlate with measured biomarkers, none of which were elevated above published normal values. Children with ASD had reduced fecal richness and distinct clustering of organisms, with increased relative abundance of Fusicatenibacter, Blautia, Sarcina, and Eubacterium, compared to TD children. CONCLUSIONS: Children with ASD who had GI symptoms had increased Bacteroides and Ruminococci. Dysbiosis correlated with common GI symptoms, including flatulence, foul stools, and nighttime awakening. IMPACT: Children with ASD who have more disturbed social awareness are prone to more severe GI symptoms, reduced fecal microbial diversity and abnormal fecal microbial composition. Certain stool microbial taxa correlated with total GI symptom scores as well as with specific GI symptoms including flatulence, abdominal pain/irritability, and foul-smelling stools. However, we found no evidence of gastrointestinal or systemic inflammation, nor of increased gut permeability to explain the symptoms.

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14. Jassi A, Rautio D, Jobse H, Alaeus J, de la Cruz LF, Mataix-Cols D, Krebs G. Body dysmorphic disorder in autistic youth: clinical characteristics, treatment outcomes, and clinical adaptations. Eur Child Adolesc Psychiatry. 2026.

Body dysmorphic disorder (BDD) is a prevalent and often disabling condition with onset typically occurring during adolescence. To date, little is known about the presentation or treatment of BDD in autistic youth. Using data from two specialist clinics, the current study compared the clinical characteristics and treatment outcomes of autistic (n = 62) and non-autistic (n = 240) youth with BDD. The groups showed broadly similar clinical presentations, with several notable differences. Autistic youth reported fewer areas of appearance concern and were less likely to engage in appearance-based social comparison, but had greater clinician-rated BDD symptom severity, poorer global functioning, and higher levels of school absenteeism. They were also more likely to be prescribed psychotropic medication, including selective serotonin reuptake inhibitors and attention-deficit/hyperactivity disorder (ADHD) medication, despite comparable rates of diagnosed mood and anxiety disorders and ADHD across groups. Outcomes following specialist multimodal treatment – including both cognitive behaviour therapy (CBT) and psychotropic medication, when deemed appropriate – were comparable, with both groups showing significant improvements in BDD, depressive symptoms, and BDD-related psychosocial impairment. Qualitative accounts from therapists highlighted a range of modifications made to optimise CBT for autistic young people with BDD. These findings illustrate the significant level of clinical need among young people with BDD and co-occurring autism but also highlight that tailored evidence-based interventions can be effective for this group.

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15. Jordan P, Tupou J, Hammond M, Uljarević M, Patrick L, Waddington H. Commentary: A Neurodiversity-Affirming Framework for Evaluating Autism Support Research. Autism. 2026: 13623613261489842.

Despite growing interest in neurodiversity-affirming research, many studies examining interventions, practices, or services designed to support autistic individuals in daily life and well-being still prioritise reducing autistic traits over well-being and autonomy. However, there are currently no universally accepted definitions or frameworks for appraising the extent to which specific support programmes align with neurodiversity-affirming principles. This commentary introduces a five-principle framework developed through systematic appraisal of the literature and collaboration with autistic, clinical and academic contributors. The framework assesses the following aspects of autism support studies: (a) strengths-based focus, (b) support for self-determination and autonomy, (c) adaptation of the environment and upskilling others, (d) diverse communication methods and (e) respect for sensory and processing differences. This preliminary framework may offer a transparent method for evaluating alignment with principles drawn from neurodiversity scholarship and social/interactional models of disability and guiding ethical, inclusive practice. Potential applications include its use in reviews or training to support research and practice that centre autistic quality of life.Lay AbstractMany autism studies focus on changing autistic behaviours. However, autistic people and researchers have increasingly called for approaches that support well-being, quality of life and acceptance of autistic differences. Currently, there is no clear way to assess whether autism research follows these ideas. This commentary presents a framework for evaluating autism support research. The framework examines whether studies focus on strengths, support independence and choice, adapt environments to meet people’s needs, recognise different ways of communicating and respect sensory differences. The framework was developed using existing research and feedback from autistic people, clinicians and researchers. It can help researchers identify studies that align with neurodiversity-affirming values and encourage more supportive and inclusive autism research in the future.

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16. Li M, Tang Q, Tang W, Lin S, Zhang M, Guo X, Liu Y, Lin D, Lin L. Multi-region social-emotional network underlying the effects of spine pinching therapy on empathy-like behavior in a rat model of autism spectrum disorder. Front Neurosci. 2026; 20: 1948910.

BACKGROUND: Spine pinching is a promising alternative for autism spectrum disorder (ASD), yet its effects on multi-region molecular coordination remain unclear. This study examined the effects of spine pinching on cellular Fos proto-oncoprotein (c-Fos) and Oxytocin Receptor (OXTR) expression in the prefrontal cortex, hypothalamus, and amygdala, and further analyzed expression patterns across these regions using profile analysis to explore the coordinated multi-region regulation underlying improvements in social and empathic deficits. METHODS: An ASD rat model was established by valproic acid (VPA) induction. After behavioral testing, rats were divided into the model group (MG), spine pinching group (SPG), and blank control group (BC). SPG received a 15-day intervention from postnatal day 22. Then, open field, three-chamber social, and fear empathy tests were performed; brain tissues were collected for immunohistochemistry and western blotting, and profile analysis was conducted. RESULTS: VPA-induced ASD rats showed developmental and ASD-like behavioral deficits. MG rats exhibited social and empathy deficits and reduced c-Fos and OXTR levels in the prefrontal cortex, hypothalamus, and amygdala versus BC. Spine pinching improved these ASD-like behavioral deficits. Immunohistochemistry revealed that c-Fos and OXTR expression increased significantly in all three brain regions after spine pinching. Western blot analysis further supported these findings, showing significant upregulation in most brain regions and consistent upward trends in the remaining regions. Profile analysis revealed parallel expression profiles across regions, suggesting coordinated multi-region regulation. CONCLUSION: Spine pinching effectively improves core ASD-like behavioral deficits in ASD rats, potentially through coordinated regulation of the multi-regional social-emotional network.

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17. Mody M, Taylor MJ, McDougle CJ. Editorial: Autism spectrum disorder: exploring the speech and language continuum. Front Hum Neurosci. 2026; 20: 1972957.

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18. Parada GE, Bretschneider H, Li JD, Fine JL, Dupas SJ, Ellis JD, Braunschweig U, Bonnal S, Dalal T, Engchuan W, Zarrei M, Wei W, Zafar N, Hemberg M, Attisano L, Ellis J, Irimia M, Wainberg M, Trost B, Scherer SW, Morris QD, Blencowe BJ. A microexon regulatory code reveals autism-linked genetic variation. Nature. 2026.

Neuronal microexons are a highly conserved class of alternative splicing events enriched in genes with critical functions in nervous system biology(1,2). Microexon splicing is often disrupted in the brains of autistic individuals, and mice with microexon deficiencies display autism-like phenotypes(1,3,4). However, the full landscape of microexons is not known, and the impact of genetic variation on these exons has not been systematically investigated. Here, through extensive transcriptome profiling, we detect hundreds of new microexons, including many with neuronal subtype-specific splicing patterns, and others that activate nonsense-mediated mRNA decay. Using machine learning, we define a sequence code predictive of neuronally spliced microexons and use this to identify critical regulatory elements surrounding the expanded microexon repertoire. This code further reveals genomic variants predicted to alter microexon splicing in individuals affected by autism, with rare variants having the strongest estimated impact. These variants are mostly detected in idiopathic individuals and are associated with autism status. They also converge on synaptic and other autism-linked genes, as well as genes not previously linked to autism. Our results collectively define an expanded repertoire of microexons, delineate their regulatory code, and pinpoint variants predicted to affect their splicing, with implications for the disruption of functions central to neuronal biology and brain disorders.

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19. Popov TN, Minchev SD, Vachev TI. Identification of Peripheral Blood mIR-128-3p Molecular Signature in Children with Autism Spectrum Disorder. Balkan J Med Genet. 2026; 29(1): 7-16.

MicroRNAs (miRNAs) are key post-transcriptional regulators of gene expression. Given the dynamic nature of the peripheral blood transcriptome, profiling circulating miRNAs in autism spectrum disorder (ASD) represents a promising strategy for identifying novel disease-associated biomarkers. Large-scale miRNA expression profiling was performed using the μParaflo™ miRNA microarray assay on pooled RNA samples from 23 individuals with ASD and 21 healthy controls. Differential expression analysis (p < 0.05) identified several dysregulated miRNAs in peripheral blood, including miR-128-3p. Microarray findings for miR-128-3p were validated by quantitative reverse transcription PCR (qRT-PCR), which confirmed its significant downregulation in the ASD group. Target gene analysis using miRWalk indicated that miR-128-3p exerts multilevel regulatory effects across diverse biological processes. Notably, predicted and validated targets included genes involved in neuronal development (e.g., PTEN) and epigenetic regulation (e.g., DNMT1, RNASEN, DICER, and EIF2C2). Receiver operating characteristic (ROC) curve analysis demonstrated significant diagnostic potential of miR-128-3p for ASD. Collectively, these findings support an integrative model of ASD as a heterogeneous neurodevelopmental disorder in which specific miRNAs, such as miR-128-3p, contribute to disease pathogenesis through modulation of gene expression networks.

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20. Ramaekers VT, Quadros EV. The Evolving Paradigm of Autism: Folate Receptor Autoimmunity deranging Epigenetic Programming in fetal and postnatal Brain Development. Biochimie. 2026.

This review on autism provides a summary of the multiple genetic, epigenetic and environmental changes setting the stage for disturbed brain development due to aberrant synaptogenesis and corticogenesis during the prenatal and post-natal periods. The emphasis is placed on nonmendelian transmission driven by epigenetics. Folate deficiency appears to play a critical role in influencing many of the structural changes contributing to developmental deficits. Impaired passage of folate across the placental and the blood-brain barriers to the fetal and postnatal brain because of folate receptor autoantibodies (FRAb) emerges as the major cause. Cerebral folate deficiency with or without autism has been associated with FOLR1 gene defects, a rare disorder. On the other hand, FRAb in association with low CSF folate is present in most children diagnosed with autism. These autoantibodies are present in more than 1/3 of asymptomatic parents of children with autism or are acquired by the child during the first two years of life. Early detection of FRAb amongst autistic children is necessary to enable high dose folinic acid treatment. The use of folinic acid before conception and during pregnancy among mothers or both parents with FRAb, represents a promising strategy to reduce the risk of autism in future offspring. Interventational treatments in parents prior to pregnancy and optimal therapeutic approaches in infants are needed to prevent disordered development of the pre- or post-natal brain.

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21. Reckner E, Thourani N, Parker D, Herrington JD, Roberts TPL, Schultz RT, Travers BG, Vaidya CJ, Verma R, Tunç B, Yerys BE. To Collapse or not to Collapse Multiple Measures of the Same Psychological Construct: A Demonstration Across 14 Independent Studies of Autistic and Non-Autistic Children. Res Child Adolesc Psychopathol. 2026; 54(5).

Large data repositories provide a valuable opportunity to combine multiple independent studies, creating large samples that can address questions not achievable within a single study. However, independent studies often use different instruments to measure the same behavior or psychological construct, such as cognitive ability, social functioning, or psychopathology. Investigators often combine samples that include different instruments under the assumption that instruments assessing the same construct capture the same underlying phenomenon. Yet this assumption of instrument interchangeability may be wrong. Collapsing different instruments into a single variable could introduce bias. Here, we established a quantitative method to demonstrate compatibility among multiple instruments with moderation analyses. We illustrate this method in domains of cognitive ability, anxiety symptoms, and attention-deficit/hyperactivity disorder symptoms as exemplars that might interact with outcomes of interest (autistic features instruments). A total of 1,352 participants were included from autistic and non-autistic samples across 14 independent studies. Our findings suggest that within this sample, some commonly used instruments within a domain can be acceptably combined, whereas others demonstrate discrepant relationships with outcomes of interest. More importantly, we offer a generalizable approach for scientists seeking to leverage existing datasets for secondary analyses.

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22. Velez Galindo M, McQuaid GA, Charlton RA, Ofori E, Peterson DS, Beversdorf DQ, Valdez M, Rodi AC, Sabri A, Smith-Plata J, Cervantes H, Wallace GL, Braden BB. Age-related differences in behavioral and brain predictors of parkinsonism in autistic adults. Front Aging Neurosci. 2026; 18: 1893104.

Autistic adults experience lifelong motor differences and may have increased vulnerability to parkinsonism, yet behavioral and neuroanatomical correlates of motor challenges across adulthood remain poorly understood. We examined cross-sectional behavioral and motor-related brain region morphology in autistic (n = 123) and non-autistic (n = 102) adults aged 18-71 years using the Parkinsonism Screening Questionnaire (PSQ), Adult Repetitive Behavior Questionnaire-2 (RBQ-2A), finger tapping, and MRI-derived cortical thickness and subcortical volumes of motor-related brain regions. Replication of the questionnaire analyses was conducted in an independent cohort of middle- and older-aged autistic adults from the Simons Powering Autism Research (SPARK; n = 210; ages 42-80 years), whereas structural MRI and finger tapping analyses were limited to the Arizona cohort. Autistic adults reported significantly higher PSQ scores than non-autistic adults. A significant group-by-age interaction was observed for RBQ-2A Factor 1, with autistic adults showing a steeper age-related reduction in repetitive motor and sensory behaviors. RBQ-2A scores were positively correlated with PSQ scores across both cohorts. Finger tapping performance did not differ between groups. Caudate volumes were larger in autistic adults and showed a modestly stronger negative association with age that did not survive multiple comparison correction. These findings suggest that self-reported restricted, repetitive motor behaviors and interests may serve as an indicator of self-reported parkinsonism-like symptoms in autism and highlight the need for longitudinal studies to clarify mechanisms of parkinsonism risk across the lifespan.

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23. Wu Z, Pu Y, Zhou W, Huang L, Zhang L, Hou C, Ahlqvist VH, Li J, Du W, Ren T, Li F. Disparities in Social Determinants of Health and Health Outcomes Among Autistic Individuals Without Intellectual Disability in Middle-to-Late Adulthood. Autism. 2026: 13623613261489847.

Autism is increasingly recognized across the lifespan, yet little is known about how structural social disadvantage contributes to long-term health risks among autistic adults in middle and later adulthood. Participants were identified from the UK Biobank study, comprising 576 autistic adults with no intellectual disability and an average of 15.2 years of education, and 5,760 controls matched on age, sex, residing area, race, and educational attainment. Social determinants of health (SDH) were assessed using a composite score calculated from 12 indicators that characterized economic, health care, neighborhood, and social domains. Mediation analysis was performed to estimate the extent to which SDH disparities mediated the elevated mortality and chronic disease risks among autistic adults. The study sample was 66.4% male and had a mean age of 51.6 years (SD, 8.03). Autistic adults had worse SDH levels across almost all dimensions. These disparities mediated 39% of the elevated mortality risk. In addition, autistic adults showed increased incidence of cardiovascular disease, dementia, hypertension, type 2 diabetes, depression, and anxiety, with SDH disparities mediating 17% to 38% of these elevated risks. These findings indicate that multifaceted disadvantage plays a substantial role in the health inequities experienced by autistic adults, underscoring the need for cross-sector interventions and policy reforms.Lay AbstractAutistic adults face persistent disadvantage in social conditions that shape health outcomes. These disadvantages may partially explain why autistic adults face higher rates of chronic illnesses and earlier death. From a large cohort in the United Kingdom, we compared 576 autistic adults with 5,760 adults without autism across 12 indicators of social determinants of health (SDH), covering economic, health care, neighborhood, and social domains. Autistic adults showed disadvantage across nearly all domains. These disparities mediated 39% of excess mortality and 17% to 38% of the increased risk for chronic conditions, including cardiovascular disease, dementia, type 2 diabetes, depression, and anxiety. Economic deprivation and social isolation showed relatively larger mediating effects. This study provides evidence that structural inequities in SDH substantially contribute to the long-term health trajectories of autistic adults. Addressing these inequities will require policies and interventions that move beyond individual-level supports to tackle systemic barriers in employment, health care access, housing, and community participation.

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