1. Correction to « AST-001 versus placebo for social communication in children with autism spectrum disorder: A randomized clinical trial ». Psychiatry Clin Neurosci;2025 (Jun 10)

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2. Al-Beltagi M, Saeed NK, Bediwy AS, Alhawamdeh R, Elbeltagi R. Management of critical care emergencies in children with autism spectrum disorder. World J Crit Care Med;2025 (Jun 9);14(2):99975.

BACKGROUND: Managing critical care emergencies in children with autism spectrum disorder (ASD) presents unique challenges due to their distinct sensory sensitivities, communication difficulties, and behavioral issues. Effective strategies and protocols are essential for optimal care in these high-stress situations. AIM: To systematically evaluate and synthesize current evidence on best practices for managing critical care emergencies in children with ASD. The review focuses on key areas, including sensory-friendly environments, communication strategies, behavioral management, and the role of multidisciplinary approaches. METHODS: A comprehensive search was conducted across major medical databases, including PubMed, Embase, and Cochrane Library, for studies published between 2000 and 2023. Studies were selected based on their relevance to critical care management in children with ASD, encompassing randomized controlled trials, observational studies, qualitative research, and case studies. Data were extracted and analyzed to identify common themes, successful strategies, and areas for improvement. RESULTS: The review identified 50 studies that met the inclusion criteria. Findings highlighted the importance of creating sensory-friendly environments, utilizing effective communication strategies, and implementing individualized behavioral management plans. These findings, derived from a comprehensive review of current evidence, provide valuable insights into the best practices for managing critical care emergencies in children with ASD. Sensory modifications, such as reduced lighting and noise, visual aids, and augmentative and alternative communication tools, enhanced patient comfort and cooperation. The involvement of multidisciplinary teams was crucial in delivering holistic care. Case studies provided practical insights and underscored the need for continuous refinement of protocols. CONCLUSION: The review emphasizes the need for a tailored approach to managing critical care emergencies for children with ASD. Sensory-friendly adjustments, effective communication, and behavioral strategies supported by a multidisciplinary team are integral to improving outcomes. Despite progress, ongoing refinement of care practices and protocols is necessary. This ongoing process addresses remaining challenges and engages healthcare professionals in continuous improvement of care for children with ASD in critical settings.

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3. Alon R. A moderated mediation model for predicting acceptance of a sibling with autism or Down Syndrome. Res Dev Disabil;2025 (Jun 10);164:105059.

Within the family system, the sibling subsystem holds particular importance, especially when there is a family member with a disability. Typically-developing siblings increasingly assume caregiving responsibilities for a brother/sister with a disability, particularly during the life stage of emerging adulthood. A critical factor influencing sibling relations is the acceptance of the sibling with a disability. Guided by the salutogenic approach, which emphasizes factors that promote health and effective coping, this study explored a moderated mediation model to examine the relationships between sense of coherence and emotions (active negative, passive negative, and positive emotions) toward siblings with autism or Down Syndrome, and how these relate to sibling acceptance. The sample included 520 emerging adult siblings (aged 18-27) of individuals with autism or Down Syndrome, who completed four self-report questionnaires. Disability type significantly moderated the indirect effect of the mediation relationship between sense of coherence and acceptance via active negative and positive emotions, but not via passive negative emotions. Specifically, the mediation effect via active negative emotions was significantly stronger for siblings of individuals with autism compared to those with Down Syndrome (b = 0.105), and the mediation effect via positive emotions was significant for siblings of individuals with autism but not for siblings of individuals with Down Syndrome (b = 0.137). The results highlight the role of sense of coherence in fostering sibling acceptance, mediated by emotions, and emphasize the need for community-based programs that enable siblings to process their feelings toward their siblings with autism or Down Syndrome, in order to promote acceptance.

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4. Arta RK, Watanabe Y, Egawa J, Lemmon VP, Someya T. Linking autism risk genes to morphological and pharmaceutical screening by high-content imaging: Future directions and opinion. Psychiatry Clin Neurosci;2025 (Jun 10)

Next-generation sequencing has identified risk genes with large effect sizes for autism spectrum disorders (ASD). Although functional analysis of individual risk genes has progressed, the overall picture of ASD pathogenesis is unclear. Therefore, there is a need for morphological profiling of variants in these genes to fully comprehend their pathomechanism in cultured cells. High-content analysis (HCA) is a powerful approach to thoroughly analyze cellular alterations following genetic modifications in many disorders, including ASD. We begin this review with the latest phenotypic descriptions of ASD risk variants and different ASD cell models, which provide a basis to select features for extraction in image-based analysis to best capture ASD mechanisms. We then describe recent genetic and pharmacological screening campaigns for ASD using HCA systems. Generally, HCA enables imaging of ASD-derived cell models using measurements such as cell proliferation, differentiation, process growth, synapse numbers, and other morphological changes to neurons, astrocytes, and microglia. Advances in machine learning are reducing bias in feature identification and extraction. These data can be transformed for downstream analyses and visualization, such as clustering using heatmaps for morphological profiling. This provides image-based profiling data that can be used to determine the mechanisms of action of genetic modifications. Additionally, comprehensive methods, such as mixture-based and common structure ranking approaches, which can systematically examine the effects of millions of compounds, could identify compounds that might ameliorate the effects of ASD risk gene mutations using morphological profiling.

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5. Capps MES, Moyer AJ, Conklin CL, Martina V, Torija-Olson EG, Klein MC, Gannaway WC, Calhoun CCS, Vivian MD, Thyme SB. Disrupted diencephalon development and neuropeptidergic pathways in zebrafish with autism-risk mutations. Proc Natl Acad Sci U S A;2025 (Jun 10);122(23):e2402557122.

Hundreds of human mutations are linked to autism and related disorders, yet the functions of many of these mutated genes during vertebrate neurodevelopment are unclear. We generated 27 zebrafish mutants with presumptive protein-truncating mutations or specific missense variants corresponding to autism-risk alleles in 17 human genes. We observed baseline and stimulus-driven behavioral changes at larval stages, as well as social behavior differences in lines tested as juveniles. Imaging whole-brain activity revealed a near identical activity map for mutations in the unrelated genes kmt5b and hdlbpa, defined by increased activity mainly in the thalamus and mesencephalon. Mutating 7 of the 17 risk genes resulted in substantial brain size differences, localized to the diencephalon in three cases and more widespread in others. Using RNA sequencing, we further defined molecular drivers of the observed phenotypes for three mutants, identifying targetable disruptions in neuropeptide signaling, neuronal maturation, and cell proliferation. This multimodal screen nominated brain regions, cell types, and molecular pathways that may contribute to autism susceptibility.

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6. Çoğulu Ö, Ayyıldız Emecen D, Atik T, Işık E, Durmaz A, Aykut A, Özkınay F. Novel Missense Variant in the PAN2 Gene Associated With Congenital Anomalies and Neurodevelopmental Delay: Expanding the Phenotypic and Mutational Spectrum of PAN2-Related Disorders. Birth Defects Res;2025 (Jun);117(6):e2491.

BACKGROUND: The PAN2 gene encodes a subunit of a deadenylation complex. CASE: In this study, we aimed to evaluate the homozygous missense variant detected in the PAN2 gene through whole-exome sequencing analysis in a case with multiple congenital anomalies and neuromotor developmental delay. A 4.5-year-old boy was referred to the pediatric genetics clinic due to multiple congenital anomalies and developmental delay. Due to the inability to determine a preliminary diagnosis with clinical and laboratory findings, whole-exome sequencing was performed on the index case. A novel homozygous missense variant, c.3026T>A (p.Val1009Asp), in the PAN2 (NM_014871.5) gene was detected. The variant was classified as « likely pathogenic » according to the ACMG 2015 criteria. CONCLUSION: Recently, biallelic loss-of-function mutations in the PAN2 gene have been identified in several patients with congenital anomalies and neurodevelopmental disorders. In this case, a missense variant in the PAN2 gene is reported as disease-causing for the first time in the literature.

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7. Daffner-Deming M, Savant D, Blakey-Armstrong A, Thom RP, Howe YJ, Fogler J, Diekroger EA. Co-occurring Anxiety in a Child With Autism and ADHD. J Dev Behav Pediatr;2025 (Jun 3)

KM is an 11-year-old autistic boy followed by a developmental-behavioral pediatrician (DBP) practicing within a multidisciplinary autism center. He had been prescribed various attention-deficit hyperactivity disorder (ADHD) medications over the years, most recently dextroamphetamine-amphetamine extended-release capsule 10 mg daily.KM initially presented to the DBP for diagnostic confirmation of autism and ADHD at the age of 7 years. His school had conducted a detailed evaluation the year prior, indicating skills in the borderline range for cognitive, adaptive, and language functioning. Based on his developmental history, physical examination, review of school-based testing, and parent- and school-completed standardized questionnaires, he met Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) criteria for autism spectrum disorder and ADHD with combined presentation.When KM was between the ages of 8 and 10 years, he trialed several medications, including methylphenidate (which led to emotional lability), dextroamphetamine sulfate oral solution (which caused irritability), and clonidine (which led to destructive behavior). Notably, KM’s parents were divorced and had differing opinions and experiences surrounding the efficacy and tolerability of his medications, which made medication trials more complex. He eventually was stabilized on extended-release dextroamphetamine-amphetamine at the age of 9 years, which both parents agreed was helpful for improving attention, despite the medication triggering a new self-injurious behavior of punching himself.At the age of 10 years, after 1 year of stability on dextroamphetamine-amphetamine extended-release capsule 10 mg daily, his parents chose not to refill the medication, to see whether it was still helpful for him. They observed that he seemed much « happier » with improved mood and decreased anxiety when dextroamphetamine-amphetamine was withheld; however, they did note worsened hyperactivity. A few weeks later, he began demonstrating increased symptoms of anxiety such as somatization and externalizing behaviors. This included frustration, aggression, and oppositionality, especially in anticipation of and/or when confronting anxious stimuli.His neuropsychologist and DBP collaborated to create a behavior monitoring plan to help his parents clarify and track his symptoms across households, with the goal of monitoring symptom severity and differentiating ADHD from anxiety-related symptoms. Because of this, his parents identified hyperactivity and impulsivity as KM’s most problematic symptoms; therefore, dextroamphetamine-amphetamine extended-release 10 mg daily was restarted. Although this was effective for his hyperactivity, ongoing monitoring suggested that his anxiety symptoms continued to be clinically significant. The DBP consulted a psychiatrist who advised a trial of escitalopram in conjunction with dextroamphetamine-amphetamine. Several weeks after starting escitalopram 5 mg per day, KM exhibited reduced anxious thoughts and decreased aggression, but ongoing symptoms of inattention.Considering KM’s complex presentation, how do we approach neuropsychological assessment, behavioral and therapeutic support, and psychopharmacology?

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8. Dörtkardeşler BE, Akçay P, Gökçe S, Korkmaz I, Kurugöl NZ, Barut Selver O. Diagnosis of vitamin A deficiency in autism spectrum disorder based on ocular symptoms and findings. Clin Exp Optom;2025 (Jun 9):1-5.

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9. English MCW, Raiter IM, Chen NTM, Tan DW, Parmentier FBR, Visser TAW, Maybery MT. Figure disembedding facility and reduced left visual field bias are linked to the social dimension of autistic traits. Atten Percept Psychophys;2025 (Jun 9)

In separate lines of work, facility in detail-focused local processing and reduced left visual field (LVF) bias have been associated with autism. Plausibly, local-processing facility and reduced LVF bias could reflect a common neurocognitive mechanism – most likely reduced right-hemisphere dominance in visual attention. To test this possibility, undergraduate students selected to differ systematically in social and non-social autistic traits completed tasks assessing local-processing facility (Leuven Embedded Figures) and LVF bias (greyscales task). Participants with more pronounced social difficulties showed greater local-processing ability and reduced LVF bias compared to participants with less pronounced social difficulties. Local-processing ability also correlated negatively with LVF bias. This is the first study to examine both LVF bias and local-processing preference in the context of autism. The finding of relationship between these two cognitive features is behavioural evidence supporting the notion of a common underlying neurocognitive mechanism and of potential alterations in right hemisphere activation as a function of autism.

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10. Jin WY, Song C, Wang YY, Liu XL, Li WH, Wu LL, Zhu ZW. Effects of Intelligence Levels and Autistic Severity on Adaptive Functioning and Cognitive-Adaptive Functioning Gaps in School-Aged Children with Autism Spectrum Disorder. Neuropsychiatr Dis Treat;2025;21:1131-1142.

PURPOSE: The aim of our study was to explore the underlying influencing factors of adaptive functioning and cognitive-adaptive functioning gaps in school-aged children with autism spectrum disorder (ASD). PATIENTS AND METHODS: Adaptive functioning of our subjects (n=107) were evaluated via Adaptive Behavior Assessment System (ABAS). Wechsler Intelligence Scale for Children (WISC) and Autism Diagnostic Observation Schedule (ADOS) were applied to assess the intelligence levels and autistic severity of them, respectively. Spearman correlation analyses were applied to investigate the associations between intelligence levels, autistic symptoms and adaptive functioning and cognitive-adaptive functioning gaps. Hierarchical regressions were performed to examine the effects of demographic data, cognitive levels, autistic severity and behavioral factors on General Adaptive Composite (GAC). RESULTS: Verbal Comprehension Index (VCI), Perceptual Reasoning Index (PRI), Working Memory Index (WMI) and Processing Speed Index (PSI) of WISC were positively correlated with Conceptual, Social domains and GAC (P<0.01). There were positive correlations between VCI, PRI and PSI and Practical domain (P<0.01). Positive associations were discovered between full-scale intelligence quotient (FSIQ) and the three domains and GAC in ABAS (P<0.01). Social Affect (SA), Restricted and Repetitive Behavior (RRB) and Total scores of ADOS were negatively correlated with the three domains (P<0.05). Comparison Scores were negatively correlated with Conceptual and Social domains (P<0.05). Negative correlations were found between SA, RRB, Total scores, Comparison Scores and GAC (P<0.05). VCI, PRI, WMI, PSI and FSIQ were positively correlated with FSIQ-Conceptual, FSIQ-Social, FSIQ-Practical and FSIQ-GAC gaps (P<0.01). SA was inversely correlated with FSIQ-Conceptual and FSIQ-Practical gaps (P<0.05). Total scores were inversely correlated with FSIQ-Conceptual, FSIQ-Practical and FSIQ-GAC gaps (P<0.05). Hierarchical regressions showed that FSIQ was positively correlated with GAC in the total model (P=0.015); whereas RRB was inversely correlated with GAC (P=0.014). CONCLUSION: Intelligence levels and autistic severity were important contributors of adaptive functioning and cognitive-adaptive functioning gaps in children with ASD.

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11. Li JJ, He Q, Dorn S, Wang Z, Lu Q. Enhancing the discriminatory power of polygenic scores for ADHD and autism in clinical and non-clinical samples. J Neurodev Disord;2025 (Jun 9);17(1):32.

BACKGROUND: Polygenic scores (PGS) are widely used in psychiatric genetic associations studies due to their predictive power for focal outcomes. However, they lack discriminatory power, in part due to the high degree of genetic overlap between psychiatric disorders. The lack of prediction specificity limits the clinical utility of psychiatric PGS, particularly for diagnostic applications. The goal of the study was to enhance the discriminatory power of psychiatric PGS for two highly comorbid and genetically correlated neurodevelopmental disorders in ADHD and autism spectrum disorder (ASD). METHODS: Genomic structural equation modeling (GenomicSEM) was used to generate novel PGS for ADHD and ASD by accounting for the genetic overlap between these disorders (and eight others) to achieve greater discriminatory power in non-focal outcome predictions. PGS associations were tested in two large independent samples – the Philadelphia Neurodevelopmental Cohort (N = 4,789) and the Simons Foundation Powering Autism Research for Knowledge (SPARK) ASD and sibling controls (N = 5,045) cohort. RESULTS: PGS from GenomicSEM achieved superior discriminatory power in terms of showing significantly attenuated associations with non-focal outcomes relative to traditionally computed PGS for these disorders. Additionally, genetic correlations between GenomicSEM PGS for ASD and ADHD were significantly attenuated in cross-trait associations with other psychiatric disorders and outcomes. CONCLUSIONS: Psychiatric PGS associations are likely inflated by the high degree of genetic overlap between the psychiatric disorders. Methods such as GenomicSEM can be used to refine PGS signals to be more disorder-specific, thereby enhancing their discriminatory power for future diagnostic applications.

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12. Li P, Men S, Patel PJ, Saleem K, Zhong P, Tam KW, Feng J, Yan Z. Cognitive and Synaptic Impairment Induced by Deficiency of Autism Risk Gene Smarcc2 and its Rescue by Histone Deacetylase Inhibition. bioRxiv;2025 (Jun 3)

SMARCC2 , which encodes BAF170, a core subunit of chromatin remodeling BAF complex, is one of the top-ranking risk genes for autism spectrum disorder (ASD). However, the mechanisms linking SMARCC2 haploinsufficiency to ASD remain poorly understood. Genome-wide RNA-seq analysis revealed that SMARCC2 was significantly diminished in iPSC-derived neurons from idiopathic ASD patients. ChIP-seq of SMARCC2 demonstrated its binding to many other ASD risk genes involved in transcriptional regulation. Smarcc2 deficiency in prefrontal cortex (PFC) of adolescent mice led to impaired working memory, with largely intact social and anxiety-like behaviors. Significant downregulation of genes enriched in synaptic transmission were found in PFC of S marcc2 -deficient mice by RNA-seq and qPCR profiling. In parallel, electrophysiological recordings uncovered the significant impairment of GABAergic and glutamatergic synaptic currents in S marcc2 -deficient PFC pyramidal neurons. Smarcc2 bound to HDAC2, and Smarcc2 deficiency led to the reduced global histone acetylation and H3K9ac enrichment at synaptic gene Slc1a3 (EAAT1), Slc6a1 (GAT1), and Slc32a1 (VGAT) promoters. Treatment of S marcc2 -deficient mice with romidepsin, a class I HDAC inhibitor, restored histone acetylation, working memory and some synaptic gene expression. These findings highlight the critical role of Smarcc2 in regulating cognitive and synaptic function, suggesting that targeting HDAC could alleviate deficits in Smarcc2-associated neurodevelopmental disorders.

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13. Lombardo C, Silvestri MC, Iannuzzo F, Turiaco F, Genovese G, Muscatello MRA, Bruno A, Mento C, Pandolfo G. Exploring the role of subthreshold autistic traits on body image uneasiness: a study among Italian female with eating disorders. Int J Psychiatry Clin Pract;2025 (Jun 10):1-6.

OBJECTIVE: The present study evaluate the presence of subthreshold autistic traits, assess the level of body image dissatisfaction, and explore their potential association in female patients with eating disorders. METHOD: The study used the Adult Autism Subthreshold Spectrum – AdAS and the Body Uneasiness Test – BUT to identify autistic traits that predict body image distress, applying linear and stepwise regression. RESULTS: The sample consisted of 49 female patients with eating disorders with a mean duration of illness of 4 years. Regression analysis indicated that BUT ‘Weight Phobia’ factor was positively associated with AdAS ‘Non-Verbal communication’ and ‘Inflexibility and adherence to routine’ domains, BUT ‘Body Image Concerns’ factor was associated with AdAS ‘Non-Verbal communication’ and ‘Inflexibility and adherence to routine’ domains. BUT ‘Compulsive Self-Monitoring’ factor was associated with AdAS ‘Inflexibility and adherence to routine’ domain and, finally BUT ‘Depersonalization’ factor was positively associated with AdAS ‘Hyper- and hypo reactivity to sensory input’. The average AdAS score is 73.8 (± SD 22.8). CONCLUSIONS: The study highlights that subthreshold autistic traits may play a role in altering body image in patients with eating disorders, possibly due to altered sensory perception. Further research is needed to explore causes and therapies. The study finds subthreshold autistic traits may predict body image uneasinessAdAS domains predict Weight Phobia and Body Image Concerns factors of the BUTInflexibility and adherence to routine predict Compulsive Self-MonitoringSensory input reactivity predicts the Depersonalisation factor of the BUT. eng

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14. Miao Y, Luo R, Lin F, Tong B, Yan J, Yang T, Sun Z, Li T, Xiao L, Chen J. Increasing indoxyl sulfate induces iNOS expression via aryl hydrocarbon receptor leading to microglia hyperactivation in the prefrontal cortex of autism-like offspring rats. Neurosci Lett;2025 (Jun 7);862:138298.

The abnormal indole metabolism is associated with the progression of Autism Spectrum Disorder (ASD). Indoxyl sulfate (IS), one of the active products of indole metabolism, still has an unknown role in ASD progression. This study investigates the role of IS/Aryl hydrocarbon receptor (AhR)/iNOS pathway in microglial activation in the prefrontal cortex (PFC) of ASD-like rats. Prenatal LPS-exposed induced autism-like behaviors offspring rats, concomitant with increased IS levels in the PFC. The levels of nuclear-AhR, IBA1, CD16 and iNOS proteins expression were increased in the PFC of LPS-exposed rats, whereas ARG1 protein expression level decreased, indicates microglia hyperactivation coupled with altered microglia morphology. ELISA analysis and further measure of synapses changes showed significantly increased inflammatory factors (TNF-α and IL-1β) and synaptic alterations. In vitro experiments demonstrated that IS treatment significantly upregulated the expression level of nuclear-AhR, enhanced microglia marker (IBA1, CD16 and iNOS) proteins and pro-inflammation factors levels (TNF-α and IL-1β), while concurrently reducing ARG1 protein expression and IL-10 levels in BV2 microglial cells. Moreover, the IS treatment significantly enhanced AhR enrichment in iNOS promoter region by chromatin immunoprecipitation and dual luciferase reporter assays, thereby significantly elevating the iNOS expression. However, the AhR-specific antagonist CH-223191 could block this activation and reverse the above proteins and inflammation factors changes. In a word, increased IS levels in the PFC of ASD-like offspring rats activate the AhR/iNOS pathway, driving microglial hyperresponsiveness and contributing to the development of ASD disease.

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15. Rajendra R, Bratton MB, Leonardi C, Clement RC. Adolescent scoliosis in autism spectrum disorder: is it idiopathic or syndromic??. J Orthop Surg Res;2025 (Jun 9);20(1):577.

PURPOSE: Minimal data exists on whether adolescents with both autism spectrum disorder (ASD) and scoliosis exhibit distinct curve types or require varying surgical management compared to neurotypical adolescents. Our study at a high-volume scoliosis center compares patterns of scoliosis in ASD patients with those of neurotypical patients. We hypothesized adolescents with ASD would present with atypical scoliosis curve characteristics compared to neurotypical adolescents. METHODS: Using ICD-10 codes, we constructed an electronic database of adolescents aged 10 to 18 with diagnoses of both scoliosis and ASD. To avoid confounding with syndromic conditions, adolescents with a syndrome independently associated with scoliosis were excluded. Additionally, a 1:2 matched cohort analysis was performed to compare adolescents with ASD and scoliosis (ASD-S) to neurotypical individuals diagnosed with adolescent idiopathic scoliosis (AIS). RESULTS: In our study, we describe demographics, radiographic characteristics, and complications experienced by 37 patients with both scoliosis and ASD. Almost half of ASD-S patients (18/37 patients; 48.6%) exhibited sagittal plane abnormalities. In comparison to the matched cohort of neurotypical patients, ASD-S patients had increased T5-12 thoracic kyphosis (31.6 vs. 24.4 degrees, p = 0.005), maximum thoracic kyphosis (36.8 vs. 30.9 degrees, p = 0.040) and lumbar lordosis (50.9 vs. 46.1 degrees, p = 0.043). Sagittal vertical axis ≥ 5 cm was more prevalent in ASD-S patients than patients with AIS (p = 0.015). Furthermore, ASD-S patients were more likely to demonstrate an abnormal trunk shift (46% versus 19%) compared to the neurotypical cohort. Social and behavioral barriers prevented three ASD-S patients (8%) and no patients with AIS who were indicated for posterior spinal fusion from undergoing the procedure. CONCLUSION: ASD-S patients had increased thoracic kyphosis compared to both controls and published AIS norms, suggesting scoliosis in ASD could potentially be considered a form of syndromic scoliosis rather than truly idiopathic. Additionally, the impact of social and behavioral barriers must be considered when treating this patient population. LEVEL OF EVIDENCE: III.

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16. Sala C. Preface to the Special Issue « Autism Spectrum Disorder: From Genes to Therapies ». J Neurochem;2025 (Jun);169(6):e70123.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by repetitive behaviors and deficits in social interaction and communication. While its exact etiology remains unclear, both genetic and environmental factors contribute to its development. The following preface provides a synthesis of six review articles and five original research studies published in this issue that explore various mechanisms potentially underlying ASD pathology. These publications collectively investigate a range of potential mechanisms underlying ASD pathology, including altered neural connectivity, synaptic dysfunction, immune dysregulation, and epigenetic modifications.

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17. Tian P, Xue Y, Zhu X, Liu Z, Bian B, Jia F, Dou L, Lv X, Zhao T, Li D. Abnormal glymphatic system function in children with autism spectrum disorder: a diffusion kurtosis imaging study. Eur J Pediatr;2025 (Jun 10);184(7):411.

The glymphatic system, responsible for clearing metabolic waste in the brain, may be impaired in neurodevelopmental and neurodegenerative disorders. This study aimed to assess glymphatic system function in children with autism spectrum disorder (ASD) and explore its relationship with the severity of core ASD features and developmental level. This study employed diffusion kurtosis imaging analysis along the perivascular space (DKI-ALPS) to assess glymphatic system function in children with ASD, dividing the ASD group into mild and severe subgroups to compare intergroup differences and differences with the typically developing (TD) group. Correlations between DKI-ALPS indices and clinical assessments, including the Childhood Autism Rating Scale (CARS) and Griffiths Developmental Scales (Chinese version, GDS-C), were also analyzed. The DKI-ALPS and diffusion tensor imaging analysis along the perivascular space (DTI-ALPS) indices were calculated separately for the left and right hemispheres, with the average defined as their arithmetic mean. The DKI-ALPS index was further compared with the DTI-ALPS index, and its directional kurtosis components were analyzed to investigate underlying microstructural differences. DKI-ALPS indices were significantly lower in children with ASD than in TD children, with lower values in the severe subgroup than in the mild subgroup. The right and average DKI-ALPS indices were negatively correlated with CARS scores, while the right index was positively correlated with Hearing-Language and Eye-Hand Coordination scores. DKI-ALPS showed greater sensitivity than DTI-ALPS in detecting group differences and clinical associations. Directional analysis revealed significant alterations in y-axis projection and z-axis association kurtosis metrics. CONCLUSION: This study provides preliminary evidence of glymphatic dysfunction in children with ASD, which is associated with the severity of core ASD features and developmental level. These findings offer novel imaging-based insights into ASD neurobiology. WHAT IS KNOWN: • Glymphatic system dysfunction has been implicated in neurodegenerative disorders. Its role in autism spectrum disorder (ASD), particularly in children, remains underexplored. Diffusion tensor imaging analysis along the perivascular space (DTI-ALPS) has limited sensitivity in detecting glymphatic changes. WHAT IS NEW: • This study is the first to apply diffusion kurtosis imaging analysis along the perivascular space (DKI-ALPS) in children with ASD, revealing significant glymphatic impairment correlated with the severity of core ASD features and developmental levels. DKI-ALPS demonstrated higher sensitivity than DTI-ALPS.

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18. Xiong NN, Cui ZJ, Zhao M, Du J, Li SJ, Li MH, Lu YY, Liang AM, Ma Y. [Analysis of developmental function in 32 511 children with global developmental delay]. Zhonghua Liu Xing Bing Xue Za Zhi;2025 (Jun 10);46(6):1051-1057.

Objective: The clinical symptoms of children with global developmental delay (GDD) were analyzed to provide the scientific basis for the intervention of children with GDD. Methods: The results of the neuro-psychobehavioral scale were collected from 32 511 children with GDD from June 2020 to November 2023. Inclusion criteria: Children diagnosed with GDD according to the Diagnostic and Statistical Manual of Mental Disorders-V, ages 0.0 to 4.9 years. Exclusion criteria: children with common hearing impairment and visual impairment. The Chi-square tests were used for statistical analysis. Results: There were more boys than girls with GDD in outpatient clinics (68.2% vs. 31.8%). Among the children, the proportion of developmental delay in 5, 4, 3, and 2 domains was 31.1%, 23.4%, 22.9% and 22.6% respectively. The rate of delay in 2-3 domains was lower in boys (41.9%) than in girls (53.1%). The rate of delay in 4-5 domains was higher in boys (58.1%) than in girls (46.9%) (χ(2)=352.11, P<0.001). Overall, outpatient GDD decreased with age. From 1.0-1.9 to 4.0-4.9 years of age, the proportion of children with developmental delay in 5 domains increased with age (18.2%, 36.4%, 43.9%, 52.4%). Among children aged 0.0-0.9 years, the proportion of 2 domains of developmental delay was higher (33.4%).Among children aged 1.0-1.9 years, the proportion of 2-3 domains of developmental delay was higher (30.7%). Among children aged 2.0-, 3.0-, 4.0-4.9 years, the proportion of developmental delay in 5 domains was higher (36.4%, 43.9%, 52.4%). In children with GDD, the fine motor delay occurred most frequently (85.1%), followed by social self-care (83.9%), language (79.0%), adaptation (62.3%), and gross motor (52.8%). The frequency of developmental delays in fine motor, adaptability, language, and social self-care in boys was higher than that in girls (χ(2)=161.37, χ(2)=41.10, χ(2)=320.90, χ(2)=238.54, all P<0.001). The age groups with the highest delay incidence of gross motor, fine motor, adaptability, language, and social self-care were: 4.0-4.9 years (70.6%), 3.0-3.9 years (97.4%), 4.0-4.9 years (81.2%), 2.0-2.9 years (90.9%),2.0-2.9 years (95.4%). The proportions of fine motor delay in GDD children aged 0.0-0.9, 3.0-3.9 and 4.0-4.9 years were (74.5%, 97.4%, 96.8%) and the proportions of social self-care delay in GDD children aged 1.0- and 2.0-2.9 years were (92.1%, 95.4%). Peripheral and mild developmental delays were predominant in children with GDD. The proportion of severe language delay (6.4%) was higher than that in other fields. Conclusions: The proportion of GDD children with developmental delay in 4-5 domains was 54.5%. The most frequent domain of delay was fine motor. The frequencies of developmental delays in fine motor skills, adaptability, language, and social self-care in boys were higher than in girls. Most of the developmental delays in GDD children were marginal and mild. The rate of severe developmental delay in language was higher than in other domains.

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19. Yadav A, Tadas M, Kale M, Wankhede N, Umekar M, Kotagale N, Taksande B. Gut Microbiota and Behavioral Ontogeny in Autism Spectrum Disorder: A Pathway to Therapeutic Innovations. Physiol Behav;2025 (Jun 10):114989.

Autism Spectrum Disorder (ASD) is a multifaceted neurodevelopmental condition characterized by deficits in social communication, repetitive behaviors, and restricted interests. Emerging evidence suggests that gut-brain axis a dynamic, bidirectional communication network between gut microbiota and central nervous system, is critical in shaping behavioral ontogeny in ASD. Dysbiosis of gut microbiota, commonly observed in individuals with ASD, has been associated with alterations in neurodevelopmental trajectories and symptom severity. Furthermore, disturbances in maternal microbiome during pregnancy are increasingly recognized as key factors influencing fetal brain development, potentially heightening risk of ASD and behavioral manifestations. Mechanistic research reveals that gut-derived metabolites modulate blood-brain barrier integrity, neuroinflammatory processes, and neuronal circuit formation, contributing to behavioral outcomes. These findings emphasize gut microbiota’s profound influence on emergence and progression of ASD-related behaviors. Promising therapeutic strategies, including probiotics, prebiotics, fecal microbiota transplantation, and dietary interventions, have demonstrated potential in modulating the gut microbiome and improving behavioral symptoms in ASD. However, challenges such as individual variability in microbiome composition, limited clinical evidence, and an incomplete understanding of causative mechanisms remain significant barriers to clinical translation. This review explores the interplay between gut microbiota and ASD-associated behaviors, focusing on key mechanisms such as microbial regulation of neurotransmitter production, immune signaling, and neuroinflammation. It further highlights gut microbiota’s potential as a modifiable factor influencing neurodevelopmental and behavioral outcomes in ASD. By advancing our understanding of gut-brain axis, we can pave the way for personalized and targeted interventions aimed at improving behavioral ontogeny and developmental trajectories in individuals with ASD.

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20. Yokota S, Sasaki G, Fujiwara A, Waki T, Sueyoshi A, Kubo S, Takeda K. Exploring the impact of training on explicit and implicit attitudes toward autism spectrum disorder and physical disabilities in university students. Res Dev Disabil;2025 (Jun 10);164:105068.

BACKGROUND: The current study examined the impact of training on attitudes toward autism spectrum disorder (ASD) and physical disabilities from both explicit and implicit aspects. As the number of autistic students enrolling in universities increases, there is a growing focus on meaningful inclusion in educational environments. Although several intervention studies investigated changes in attitudes towards people with disabilities, including ASD and physical disabilities, few have focused on the implicit aspect of attitudes. METHODS: In this study, participants received a training course on understanding and supporting people with developmental disorders, physical disabilities, or no training in the case of the control group. They completed surveys on their knowledge and explicit and implicit attitudes at three time points (pre-, post, and one-month follow-up). RESULTS: We found significant positive changes in explicit attitudes toward disabilities that were not the target of the training course. Only participants who received training on physical disabilities changed their implicit attitude toward people with physical disabilities. These participants also knew more about physical disabilities before receiving the training course. CONCLUSION: These results indicate that while positive spill-over effects in explicit attitudes occur through providing knowledge and support skills, implicit attitudinal change can occur depending on the level of expertise about the target disabilities.

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21. Zeng Q, Hu Y, Xie L, Zhang X, Huang Y, Ye J, Wang S, Xu J. Gut microbiota diversity and composition in children with autism spectrum disorder: associations with symptom severity. PeerJ;2025;13:e19528.

BACKGROUND: Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder impairing social and communication skills. Gut microbiota has become key in understanding ASD pathophysiology. However, the relationship between the ASD symptoms and alternation of gut microbiota still remains unknow. We hypothesize that the composition of gut microbiota in children with ASD may be strongly associated with the severity of their symptoms. METHODS: Here, fecal samples from children (divided in to three groups: neurotypical, severe ASD and mild ASD) at a hospital were collected. The symptoms of ASD were assessed by an experienced pediatric neurologist, and the severity of the symptoms in children with ASD was determined based on the assessment scores. Then the diversity and composition of gut microbiota were detected by high-throughput sequencing. RESULTS: In total, 2,021 amplicon sequence variants (ASVs) were obtained from 46 fecal samples, with highest in the neurotypical group. Alpha diversity in bacteria differed between severe and mild ASD. Microbiota health and dysbiosis indices varied with ASD severity. Beta diversity indicated that severe ASD differed from others, and mild ASD was closer to neurotypical in community structure. At the phylum level, Firmicutes was the dominant bacteria but abundances differed in different groups, and Ascomycota increased in severe ASD fungi. At the genus level, groups had distinct dominants, and mild ASD microbiota resembled that of neurotypical children. Function prediction revealed differences in bacteria and fungi, with severe ASD having higher amino acid metabolism, lower cofactor/vitamin metabolism, and more undefined saprotrophs. CONCLUSION: This study revealed gut microbiota differences between ASD children (varying symptoms) and neurotypical ones, showing milder ASD closer in microbiota aspects. It offers insights for exploring ASD pathogenesis and devising interventions.

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