1. Chavez J, Le AA, Lauterborn JC, Cox BM, Jia Y, Lynch G, Gall CM. Lasting effects of early-life oxytocin treatment on LTP and episodic memory in a mouse model of Fragile X syndrome. Neuropsychopharmacology;2026 (Apr 28)

Deficits in episodic memory are a debilitating feature of Fragile X syndrome (FXS) and other congenital autism spectrum disorders (ASDs). There is evidence that oxytocin (OXT) treatments can improve sociability in persons with ASD and related animal models, encouraging the idea that benefits might extend to cognitive function. We tested this possibility in male FXS model, Fmr1-knockout (KO) mice. Intranasal treatments with OXT or saline were given daily during the second or fifth postnatal week, and effects on social behavior, spatial and episodic memory, and hippocampal synaptic plasticity were assessed in adulthood. Saline-treated Fmr1-KOs exhibited profound deficits in social recognition, object location memory, what-when-where components of episodic memory and long-term potentiation (LTP) in both the CA3-CA1 and lateral perforant path (LPP) systems; NMDAR-mediated components of LPP responses were also impaired. OXT treatments during the second week postnatal normalized all of these functions in Fmr1-KOs assessed in adulthood; this included restoration of initial stages of CA3-CA1 LTP and granule cell NMDAR-mediated currents. In hippocampal slices from naïve adult male Fmr1-KO mice, bath-applied OXT treatment restored LTP in CA1 but not the LPP, indicating pathway-specific effects. Intranasal OXT treatments during the 5(th) week postnatal did not have enduring effects in either genotype. The present evidence that early OXT treatment corrects a broad range of cognitive and synaptic plasticity deficits in Fmr1-KO mice identifies a clinically plausible strategy for normalizing hippocampal function in ASD and FXS, and highlights the presence of a critical developmental window for effective intervention.

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2. Güleç A, Gerik-Celebi HB. The Impact of 8p23 Copy Number Variations on Neurodevelopmental Aetiology: A Focus on Rare Deletions. Int J Dev Neurosci;2026 (May);86(3):e70130.

OBJECTIVE: Copy number variations (CNVs) involving the 8p23 chromosomal region have been increasingly associated with neurodevelopmental disorders (NDDs); however, the distal 8p23.1-p23.3 subregion remains poorly characterized. This study aimed to describe the clinical and genomic features of paediatric patients with rare 8p23 CNVs and to explore potential genotype-phenotype associations within a case-series framework. MATERIALS AND METHODS: Five unrelated paediatric patients aged 1-12 years who were evaluated for NDDs were identified as carriers of rare 8p23 CNVs. Genomic investigations included conventional karyotyping, chromosomal microarray analysis (CMA) and whole-exome sequencing (WES). Segregation analyses were performed in available parents to assess inheritance patterns. This study was designed as a descriptive case series and should be considered exploratory and hypothesis-generating in nature. RESULTS: All patients harboured heterozygous deletions within the 8p23 region and exhibited heterogeneous neurodevelopmental phenotypes, including attention-deficit/hyperactivity disorder, autism spectrum disorder and global developmental delay. Deletions involving CSMD1 and DLGAP2 may contribute to neuropsychiatric features, whereas a larger multigenic deletion encompassing ARHGEF10 was associated with more severe global developmental impairment. An isolated deletion of TDRP was identified in a patient with attention-deficit/hyperactivity disorder, suggesting a possible contributory role in neurobehavioral phenotypes. A focal deletion affecting the FAM90A gene family was detected in a patient presenting with febrile seizures and short stature. CONCLUSIONS: These findings highlight the marked phenotypic variability associated with rare 8p23 CNVs and underscore the importance of detailed genomic profiling in NDDs. Gene-specific microdeletions may contribute to distinct clinical phenotypes, while larger deletions appear to be associated with more severe developmental outcomes. However, given the case-series design and the presence of variants of uncertain significance, the findings should be interpreted with caution. Further studies in larger cohorts and functional analyses are warranted to clarify the roles of TDRP and FAM90A.

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3. Kara B, Savaş M, Özer T, Şişmanlar Ş G, Akarsu R, Öztürk SY, Akpinar Ş N, Deniz A, Güneş AS, Dursun F, Akkoyunlu DS, Çine N, Tüzün E. NLRP3 and RANK-RANKL-OPG Pathway-related Gene Expression Levels in Children With Autism Spectrum Disorder. In Vivo;2026 (May-Jun);40(3):1680-1695.

BACKGROUND/AIM: Altered glial function, and increased proinflammatory cytokines are associated with behavioral and cognitive problems seen in autism spectrum disorder (ASD). In this study, we aimed to investigate the neuroinflammatory process in ASD and the relationship between neuroinflammatory markers and the severity of autism symptoms. MATERIALS AND METHODS: We evaluated the gene expression levels of NLRP-3 and RANK-RANKL-OPG inflammasome pathways in 50 children with ASD (AC), 34 typically developing siblings (HSAC), and 16 healthy controls (HC) and the correlation between gene expression levels and severity of neuro-psychiatric dysfunctions in ASD. All children were aged 3-18 years. The severity of autism core symptoms and neurologic dysfunction was determined by the Childhood Autism Rating Scale (CARS), Turkish Communication Development Inventory (TCDI), Dunn’s Sensory Profile, Adolescents/Adults Sensory Profile and Clinical Observation of Neuromotor Performance, and the scores were correlated with gene expression levels. RESULTS: Up-regulation was observed in all genes (IL-1β, Casp1, NLRP3, NLRP1, TNFRSF11B, TNFRSF11A, and TNFSF11) in the ASD group, but only the difference between the AC and HC groups was statistically significant for TNFRSF11B, TNFRSF11A, and TNFSF11. There were significant correlations in the linguistic and cognitive skills, sensory profile, and neuromotor performance domains for genes associated with both inflammatory pathways. CONCLUSION: This is the first study showing that the RANK-RANKL-OPG pathway is active in ASD cases. Our results emphasize the harmful influence of the RANK-RANKL-OPG and NLRP3 inflammasome complexes on neurologic development.

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4. Lord C, Brugha TS, Charman T, Cusack J, Dumas G, Frazier T, Jones EJH, Jones RM, Pickles A, State MW, Taylor JL, Veenstra-VanderWeele J. Author Correction: Autism spectrum disorder. Nat Rev Dis Primers;2026 (Apr 28);12(1)

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5. Moreno RJ, Ashwood P. Regulatory T cells dysregulation in neurodevelopment: An underlying mechanism in the pathophysiology of autism. Brain Behav Immun;2026 (Apr 26):106786.

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6. Shek AK, Lui SSY, Lai ECL, Wong RWK, Chan JLF, Choi LY, Lam KHY, Lok EYC, Lam SM, Yi W, Chan RCK. A Network Analysis of Alexithymia, Interoception, Empathy, Self-Awareness and Psychopathological Symptoms in Young People With Autism Spectrum Disorder. Autism Res;2026 (Apr 28):e70265.

Autism Spectrum Disorder (ASD) is associated with altered interoception, empathy, self-awareness, and alexithymia. However, limited research has been conducted to investigate the interrelationships of these constructs with psychopathological symptoms. A prior network analysis in college students examined the interrelationship of these constructs and demonstrated that cognitive empathy and alexithymia influenced interoception and autistic features. We aimed to examine the interrelationships of these constructs in people with clinical ASD using network analysis. We recruited 208 young people aged 15-25 with Autism Diagnostic Observation Schedule (ADOS-2) confirmed diagnosis of ASD and administered self-report measures for interoception, empathy, self-awareness, and alexithymia. We constructed a regularized partial correlation network. The results showed the alexithymia node of « difficulty-describing-feelings-to-others » (expected influence (EI) = 0.854), interoceptive awareness (strength = 1.273; EI = -0.084), depressive symptoms (EI = 0.537), and anxiety symptoms (EI = 0.652) were important nodes. Our findings suggested that alexithymia, depressive, and anxiety symptoms influenced empathy, self-awareness, and autistic features in people with ASD and supported the important role of interoception in the network. Autistic people have diverse symptoms, such as difficulty‐to‐articulate emotion, low awareness of inner‐bodily signals, empathic difficulty, low self‐awareness, anxiety and depression. These symptoms mutually interact with each other, forming a symptom network. We assessed this complex symptom network in 208 autistic people aged 15–25. Difficulty‐to‐articulate‐emotion, anxiety, and depressive symptoms are important in bringing changes to the network. Low awareness of inner‐bodily signals is also important, because it connects most strongly with all the remaining symptoms in the network. eng

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7. Wong O, Zheng Z, Wang M, Cao A, Chan FKL, Ng SC, Su Q. Microbiome biomarkers in autism spectrum disorder: Toward prediction, diagnosis, and prognosis. Cell Rep Med;2026 (Apr 27):102780.

Autism spectrum disorder (ASD) is a heterogeneous condition that lacks objective diagnostic biomarkers, often resulting in delayed intervention. Evidence increasingly links gut microbiota dysregulation to ASD pathophysiology via the microbiota-gut-brain axis, suggesting plausible translational applications. This review outlines mechanistic insights from preclinical and clinical studies to illustrate how microbial disturbances affect neurodevelopment. It examines the evolution of biomarker research from early 16S rRNA sequencing to advanced shotgun metagenomics incorporating functional integration, multi-omics, and genomic variants. Such advancements enhance diagnostic accuracy and generalizability. Although clinical causal evidence remains indirect, these microbial signatures show potential for early diagnosis, presymptomatic risk prediction, and tailored therapies. Key challenges include prospective validation in diverse cohorts, specificity testing against comorbidities, and addressing clinical heterogeneity. By summarizing methodological gaps and providing future guidance, this review aims to bridge mechanistic research and clinical practice to improve outcomes across the spectrum.

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