1. Alili Ademi L, Sukarova-Angelovska E, Nonkulovski D, Ademi B. GNB1-related neurodevelopmental disorder due to a pathogenic exon 6 variant NM_002074.5:c239T>A (p.Ile80Asn) inherited from an asymptomatic father with mosaicism. BMJ Case Rep;2026 (May 19);19(5)

GNB1-related neurodevelopmental disorder is a rare developmental encephalopathy caused by pathogenic variants in GNB1 The disorder presents with early-onset developmental delay, hypotonia, movement disorders, seizures and/or epilepsy and varied electroencephalographic (EEG) findings, which may occur even in the absence of seizures.We report a male toddler with early-onset global developmental delay, hypotonia, dysmorphic features, bilateral sensorineural hearing loss, nystagmus, transient neonatal focal seizures and emerging EEG findings. Genetic testing identified a pathogenic GNB1 missense variant NM_002074.5:c239T>A (p.Ile80Asn) inherited from an asymptomatic father with mosaicism.This case illustrates the clinical variability of GNB1 encephalopathy, expands the spectrum of reported inheritance patterns and highlights the importance of early genetic testing of infants with developmental delay and pathological EEG patterns. Recognition of the electroclinical patterns is essential for early diagnosis, genetic counselling and multidisciplinary management. The future expansion of longitudinal clinical and EEG data will be essential for prognosis and possible future therapeutic approaches.

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2. Ascone F, Giangiacomo D, Trezza V. Classic psychedelics and autism spectrum disorder: preclinical evidence, mechanistic insights and unresolved challenges. Neurosci Biobehav Rev;2026 (May 18):106761.

Classic psychedelics have re-emerged as compelling probes of neural plasticity, raising interest in their potential relevance for behavioral and circuit-level features associated with autism spectrum disorder (ASD). Although only a limited number of studies have examined these compounds in validated animal models of ASD, a growing body of preclinical work has investigated their effects on behavioral and neurobiological processes relevant to ASD. In this context, this review adopts a domain-based perspective, discussing studies that examine the effects of classic psychedelics on behavioral domains overlapping with ASD phenotypes, including social interaction, communication, repetitive behaviors, anxiety-like traits, and cognitive function. We critically evaluate the neurobiological mechanisms underlying these effects, focusing on serotonergic signaling, glutamatergic neurotransmission, neuroinflammatory processes, BDNF/TrkB pathways, oxytocinergic and dopaminergic modulation. Across these domains, we identify points of mechanistic convergence with neurobiological alterations implicated in ASD, and integrate emerging preclinical findings that may guide future hypothesis-driven research. At the same time, we highlight significant gaps that constrain interpretation. We conclude by outlining key conceptual and methodological limitations, including the scarcity of studies in established animal models of ASD, reliance on simplified behavioral assays, and uncertainty regarding how ASD-specific circuit alterations may influence responses to psychedelics. Addressing these issues will be essential to determine whether psychedelic-induced plasticity can provide meaningful insights into ASD pathophysiology or inform future translational efforts.

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3. Davies J, Brinkert J, Irvine B, Elise F, Farran EK, Milne E, Scerif G, Remington A. Superior perceptual capacity is specific to autistic cognition. Acta Psychol (Amst);2026 (May 19);267:107088.

OBJECTIVES: To systematically measure perceptual capacity for autistic, ADHD, autistic people with ADHD (AuDHD), and neurotypical adult populations, and to examine whether increased perceptual capacity represents a specific feature of autism or extends to other neurodivergent groups. METHODS: UK-based adults (n = 270: 69 autistic, 66 ADHD, 65 AuDHD, and 70 neurotypical), aged 18 to 40 years of age, took part in an online, computer-based perceptual capacity paradigm. Participants performed a target detection task with various levels of perceptual load (set size) and distractor congruency. RESULTS: Pre-registered Analysis of Variance and Generalized Linear Models/Linear Mixed-Effects Models indicated a significant group by set size interaction for reaction time. This was driven by a plateau in reaction time from set size 4 for the neurotypical group. There were no significant main effects of group for accuracy or reaction time. Exploratory analyses showed autistic participants demonstrated significantly stronger congruency effect (greater slowing from incongruent distractors) at moderate load levels than neurotypical participants, with a similar trend for those with AuDHD, but not ADHD. CONCLUSIONS: These findings suggest that increased perceptual capacity might be a unique aspect of autistic cognition. This offers important insight into the differing cognitive underpinnings that may give rise to attentional challenges experienced by autistic people and those with ADHD and consequently, alternative recommendations regarding individualised approaches to support.

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4. Harold R, Kamat R, Neo WS, Novak K, Nossa G, Monsivais H, Durham P, Zhou X, Dydak U, Berry-Kravis E, Foti D, Kelleher BL. Cerebellar GABA and executive function among adult female carriers of the fragile X messenger ribonucleoprotein 1 premutation: a pilot study to examine neural underpinnings of the clinical phenotype. Neurobiol Dis;2026 (May 18):107456.

The FMR1 premutation is associated with a complex clinical phenotype, with increased risk for outcomes across the domains of psychological disorders, motor functioning, and reproductive health. A key gap is understanding intermediate processing that may help to explain how the FMR1 premutation alters brain functioning to confer increased risk across these domains. The current study begins to address this gap by focusing on two candidate, interrelated processes: cerebellar GABA and executive function. Data were collected from a cohort of 15 adult female FMR1 premutation carriers and a comparison group of 15 age-matched unaffected controls. Cerebellar GABA concentration was measured using edited magnetic resonance spectroscopy (MEGA-sLASER) at 3 T. Executive function was measured across two units of analysis: the error-related negativity, an EEG marker of automatic error detection, as well as performance-based measures from validated neuropsychological tests. Premutation carriers exhibited an atypical scalp topography of the error-related negativity. In controls but not in premutation carriers, error-related brain activity was associated with cerebellar GABA concentration and performance-based executive function. This pattern of preliminary findings suggests that the FMR1 premutation may alter the neural network involved in error monitoring. If these findings are confirmed in larger cohorts, they have potential implications for understanding the emergence of the broader clinical phenotype in adult FMR1 premutation carriers.

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5. Huang Y, Huang F, Wang Y, Chang X, Guo S, Chen Y, Wang M, Liu K, Liu X, Fang X. Classification of autism spectrum disorder using a directional graph attention network on brain effective connectivity. Psychiatry Res Neuroimaging;2026 (May 15);361:112249.

Recent research into the neural mechanisms underlying autism spectrum increasingly relies on brain network analysis; however, conventional models remain limited in their ability to capture directed causal interactions between brain regions. To address this limitation, we propose a directional graph attention network (DGAT) as a proof-of-concept framework for autism classification using directed effective connectivity. DGAT takes Granger causality matrices as input and employs a dual-branch attention architecture to model incoming and outgoing information flows separately, then adaptively fuses the resulting bidirectional embeddings through learnable weights to more explicitly characterize driver-response relationships between regions. In addition, the model incorporates multiscale node descriptors, including temporal statistics, graph-theoretic centrality measures, and global graph metrics, to enhance representational capacity. Under nested cross-validation, DGAT achieved competitive performance on key metrics (accuracy: 71.99%, AUC: 75.15%, specificity: 73.07%) and produced more favorable results than support vector machines, random forests, graph convolutional networks, and GAT based on undirected functional connectivity. These findings suggest that DGAT may serve as a promising exploratory framework and offer a novel perspective for disease classification based on directed brain networks.

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6. Jeong D, Hwang S, Lee Y, Lee J, Kim MJ. Atypical neural synchronization in the temporal gyrus during face processing in children with autism spectrum disorder. Biol Psychol;2026 (May 18):109298.

Autism spectrum disorder (ASD) is characterized by deficits in face processing, which are closely related to difficulties in everyday social interactions. Previous functional magnetic resonance imaging (fMRI) studies have relied on static or simplified dynamic facial stimuli with limited ecological validity, failing to reflect the complex interplay of speech, expressions, and multimodal cues in real-world social contexts. To address these limitations, we used data from the Healthy Brain Network (HBN), which includes two movie-watching runs per participant, and selected homogeneous samples of 18 children with ASD and 18 typically developing (TD) children. Inter-subject correlation (ISC) analysis was applied to compare neural synchronization patterns between groups across the full movie and face-viewing scenes. Results showed that children with ASD exhibited reduced neural synchronization across widespread brain regions compared to TD children. Notably, during face-viewing scenes, children with ASD revealed reduced neural synchrony relative to TD children in the left middle temporal gyrus, right superior temporal gyrus, and right primary auditory cortex. These findings suggest that children with ASD exhibit atypical neural responses in key regions involved in social cognition and multisensory integration when processing face-related information. This underscores the importance of extended regions related to face processing in understanding ASD. Accordingly, the present study contributes to our understanding of neural synchrony patterns associated with face processing in ASD.

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7. Otani Y, Zhu X, Liu X, Koga K, Kawabata R, Miyajima H, Takumi T, Fujitani M. Restoration of axon initial segment plasticity via chemogenetic activation rescues autism-related behaviors. Cell Death Dis;2026 (May 19)

Autism spectrum disorder (ASD) presents a major clinical challenge, necessitating the identification of novel therapeutic targets rooted in its underlying pathophysiology. The axon initial segment (AIS) is the critical site for action potential initiation and a hub for homeostatic plasticity; however, its involvement in ASD remains poorly defined. Herein, we report significant structural and functional deficits in the AIS within a clinically relevant ASD mouse model harboring a 15q11-13 duplication (15q dup). We observed that pyramidal neurons in the medial prefrontal cortex (mPFC) exhibited shortened AIS, resulting in reduced neuronal excitability and impaired plasticity. Importantly, these abnormalities were specific to long-range circuits, including the mPFC-dorsal raphe nucleus (DRN) pathway, which is critical for social behavior. We employed a circuit-specific chemogenetic strategy that activates these mPFC-DRN projection neurons to test the reversibility of this phenotype. Remarkably, this targeted intervention normalized AIS structure and rescued core ASD-like behaviors, including social interaction deficits and repetitive behaviors. These results demonstrated that AIS alterations in this ASD model represent a reversible form of maladaptive plasticity, rather than permanent neuropathology. Our study highlights circuit-specific AIS modulation as a promising novel avenue for therapeutic interventions aimed at correcting fundamental neuronal excitability deficits in ASD.

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8. Ou J, Sun C, Zhang L. A cross-sectional study on the quality of pediatric autism-related videos on short video platforms. Sci Rep;2026 (May 19)

This study evaluated the information quality, content characteristics, and distribution patterns of short videos concerning pediatric autism on three major Chinese platforms: TikTok, Bilibili, and Rednote. Employing a cross-sectional design, we retrieved videos using the keyword  »pediatric autism » and analyzed 279 eligible entries. We collected basic video characteristics and engagement metrics, while video quality and reliability were assessed using the Global Quality Scale (GQS), the modified DISCERN (mDISCERN) instrument, the Journal of the American Medical Association (JAMA) criteria, and the Video Information and Quality Index (VIQI). Overall video quality was moderate, with a median GQS score of 3, but information reliability was poor, indicated by a median JAMA score of 1. Significant inter-platform differences emerged (p < 0.05): Bilibili videos were the longest, TikTok had the highest proportion of uploaders who were healthcare professionals (69.89%) and exhibited greater user engagement, whereas Rednote was dominated by individual users and contained a higher proportion of low-quality videos. Information on treatment costs was notably insufficient across all platforms. In conclusion, the quality of pediatric autism-related health information on short-video platforms varies substantially by platform, revealing a mismatch between available information and user needs. Enhancing professional content review mechanisms and encouraging greater participation by healthcare professionals could improve the dissemination of practical and reliable health information.

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9. Suresh A, Kourdougli N, Nomura T, Buth JE, Miranda-Rottmann S, Sánchez-León CA, Wu MW, Nelson SM, Wall LT, Tran AT, Araya R, Contractor A, Gandal MJ, Portera-Cailliau C. Translatome profiling reveals opposing alterations in inhibitory and excitatory neurons of fragile X mice and identifies EPAC2 as a therapeutic target. Neuron;2026 (May 18)

Symptoms of fragile X syndrome (FXS), the leading monogenic cause of intellectual disability and autism, are thought to arise from an excitation/inhibition (E/I) imbalance. Here, we leverage cell-type-specific mRNA sequencing to profile molecular alterations in cortical excitatory (Camk2) and inhibitory (Pvalb) neurons in Fmr1 knockout (KO) mice, integrating transcriptomic results with circuit and behavioral readouts to prioritize novel therapeutic targets. We uncovered significant genotype-by-cell type interactions for differential gene expression in Camk2a and Pvalb translatomes, and, strikingly, the underlying signaling pathways were often altered in opposite directions. Among the 184 differentially expressed genes that were concordantly dysregulated across both cell types, only Rapgef4 (a.k.a., exchange protein direftly activated by cAMP 2 [Epac2]; upregulated in Fmr1 KO) was also a fragile X messenger ribonucleoprotein (FMRP) target, brain-enriched, and associated with neurodevelopmental disorders. Treatment of Fmr1 KO mice with a specific EPAC2 antagonist restored cortical circuit function and ameliorated multiple behavioral phenotypes. Thus, EPAC2 should be considered a potential therapeutic target for FXS.

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