1. Aldakhil AF, Alasim KN. Diagnostic accuracy of AI-based models for autism spectrum disorder: A systematic review and meta-analysis with a focus on Arab populations. Res Dev Disabil. 2025; 167: 105166.

BACKGROUND: Autism Spectrum Disorder (ASD) is a prevalent neurodevelopmental condition globally, including in Arab countries, where stigma, limited awareness, and scarce specialized services often delay diagnosis and care. Artificial intelligence (AI) offers scalable solutions for screening, early diagnosis, and intervention programmes. AIMS: To evaluate the diagnostic accuracy of AI-based models for ASD with a specific focus on Arab cohorts, and to appraise methodological quality and potential cultural influences on model performance. METHODS: We searched PubMed, Scopus, and Web of Science for studies published between January 2019 and September 2025. Eligible studies evaluated supervised AI systems, machine learning (ML), or deep learning (DL) that classify individuals as ASD versus non-ASD against a clinician-confirmed reference standard. Study quality was assessed using QUADAS-2. Diagnostic accuracy metrics (sensitivity, specificity, likelihood ratios, diagnostic odds ratio) were pooled using a bivariate random-effects model. RESULTS: Fifteen studies were included in the systematic review; ten studies were eligible for meta-analysis (59 model evaluations; 26,569 instances), comparing AI models against clinician-confirmed autism diagnoses. Pooled sensitivity was 91.8 % (95 % CI [89.0, 94.2]) and specificity 90.7 % (95 % CI [87.6, 93.5]), yielding a diagnostic odds ratio (DOR) of 109.0 (95 % CI [59.5, 227.9]), positive likelihood ratio (LR⁺) of 9.8, and negative likelihood ratio (LR⁻) of 0.09. Subgroup analysis revealed hybrid models (deep feature extractors with classical classifiers) achieved the highest accuracy (sensitivity 95.2 %, specificity 96.0 %), followed by conventional ML (sensitivity 91.6 %, specificity 90.3 %), and DL alone (sensitivity 87.3 %, specificity 86.0 %). In Arab-only cohorts, models showed higher sensitivity (94.2 %) but lower specificity (87.6 %), suggesting stronger rule-out potential but more false positives. CONCLUSION: To our knowledge, this is the first systematic meta-analysis of AI-based ASD diagnostics confirms high accuracy, with hybrid models excelling compared to both traditional ML and DL alone. In Arab cohorts, models showed higher sensitivity but lower specificity, highlighting the importance of cultural and linguistic tailoring of assessment tools, diagnostic protocols, and datasets, alongside regional challenges such as stigma and limited resources. These findings support AI as a valuable tool for early detection and screening.

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2. Alessandri-Bonetti A, Guglielmi F, Faustini A, Sangalli L, Staderini E, Gallenzi P. Prevalence of OSA Risk and Bruxism in Children With Autism Spectrum Disorders. Autism Res. 2025.

Children with autism spectrum disorder (ASD) often present with sleep disorders, including obstructive sleep apnea (OSA), a condition characterized by upper airway obstruction during sleep. Bruxism has been recently described as being associated with OSA. This study aimed to assess the prevalence of OSA risk and bruxism in pediatric ASD patients compared to age and sex-matched healthy controls using the validated screening tool Sleep-Related Breathing Disorder scale of the Pediatric Sleep Questionnaire (SRBD-PSQ). Fifty-eight consecutive pediatric ASD patients were screened for OSA and bruxism at the Dentistry Unit of A. Gemelli Policlinic and compared to 58 healthy patients using chi-square tests. Comparison between the two groups was repeated by controlling for body mass index (BMI) and behavioral symptoms with ANCOVA and logistic regression analyses. Of 58 ASD patients (10.3 ± 3.3 y/o, 74.5% males), 60.3% presented with an increased OSA risk, compared to 13.8% in the controls (p < 0.001, OR = 3.682, 95% CI: 1.933, 7.012). After controlling for BMI (which was significantly higher among ASD patients), those with ASD had significantly higher odds of OSA risk compared to controls (OR = 9.6, 95% CI: 3.56, 26.21). After controlling for the SRBD-PSQ behavioral component, the association between ASD and OSA risk lost its significant difference (p < 0.862). No significant difference was found between ASD patients and controls in awake (3.6% vs. 6.9%, p = 0.680) and sleep (25.5% vs. 32.8%, p = 0.393) bruxism. Pediatric patients with ASD present at higher risk of OSA, most likely explained by the behavioral symptoms; self-reported bruxism did not significantly differ compared to healthy controls. Children with autism spectrum disorder present a higher risk of suffering from obstructive sleep apnea according to the Sleep‐Related Breathing Disorder scale of the Pediatric Sleep Questionnaire; however this result could be explained by the behavioral symptoms. Children with autism spectrum disorder do not report higher awake and/or sleep bruxism compared to peers without autism. eng.

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3. Baraúna S, Sylvestre G, Quagliato L. FGF-21 and 8-OHdG Biomarkers in Drug-Naïve Children With Autism Spectrum Disorder. Int J Dev Neurosci. 2025; 85(7): e70069.

Autism spectrum disorder (ASD) is a neuropsychiatric condition characterized by significant difficulties in social communication and repetitive behaviours, with multifactorial causes that include genetic predisposition and environmental factors. Recent studies have highlighted altered levels of specific biomarkers associated with DNA damage in children with ASD. These alterations become more evident due to increased oxidative stress, a common feature in individuals diagnosed with ASD. This study aimed to investigate plasma levels of FGF-21-an endogenous protein with metabolic and, primarily, neuroprotective functions-and its relationship with the biomarker 8OHdG, which is widely recognized as an indicator of oxidative stress and cellular and DNA damage. The research included 29 drug-naive children diagnosed with ASD and 31 healthy control children. The 8OHdG result showed a statistically significant difference when comparing patients diagnosed with ASD to healthy controls (t = 2.768, df = 58, p = 0.004), indicating a relevant difference in the levels of this biomarker and DNA damage between patients with ASD and controls. In contrast, the analysis of FGF-21 (p = 0.44) did not show a significant difference in both groups. These findings pave the way for future research that may lead to innovative therapeutic approaches for the treatment of children with ASD, focusing on reducing oxidative stress and DNA repair.

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4. Bhavna K, Ghosh N, Banerjee R, Roy D. A lightweight, end-to-end explainable, and generalized attention-based graph neural network model trained on high-order spatiotemporal organization of dynamic functional connectivity to classify autistics from typically developing. Netw Neurosci. 2025; 9(4): 1323-51.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social cognition, interaction, communication, restricted behaviors, and sensory abnormalities. The heterogeneity in ASD’s clinical presentation complicates its diagnosis and treatment. Recent technological advancements in graph neural networks (GNNs) have been extensively used to diagnose brain disorders such as ASD, but existing machine learning models often suffer from low accuracy and explainability. In this study, we proposed a novel, explainable, and generalized node-edge connectivity-based graph attention neural network (Ex-NEGAT) model, leveraging edge-centric high-order spatiotemporal organization of dynamic functional connectivity streams between large-scale functional brain networks implicated in autism. Using the Autism Brain Imaging Data Exchange I and II datasets (total samples = 1,500), the model achieved 88% accuracy and an F1-score of 0.89. Additionally, we used meta-connectivity subtypes to identify subgroups within ASD samples using the rough fuzzy c-means algorithm. We also used connectome-based prediction modeling, which revealed critical brain networks contributing to predictions that accurately correlate with Autism Diagnostic Observation Schedule (ADOS) and full intelligent quotient (FIQ) scores. The proposed framework offers a robust approach based on previously unexplored higher order spatiotemporal correlation features of dynamic functional connectivity, which may provide critical insight into ASD heterogeneity and improve diagnostic precision. In this study, we proposed a novel, explainable, and generalized node-edge connectivity-based graph attention neural network model, leveraging edge-centric high-order spatiotemporal organization of dynamic functional connectivity streams between large-scale functional brain networks implicated in autism. The connectome-based prediction modeling reveals critical brain networks contributing to predictions that accurately correlate with ADOS and FIQ scores. The proposed framework offers a robust approach based on previously unexplored higher order spatiotemporal correlation features of dynamic functional connectivity, which may provide critical insight into autism spectrum disorder heterogeneity and improve diagnostic precision. eng.

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5. Clarke E, Tchoua PP, Thompson K, Wasser H, Agrawal S, Schenkelberg MA, de Oliveira S, Willis EA. Nutrition Practices Reported by Families of Children with Down Syndrome, Autism, and Without an Intellectual or Developmental Disability. J Nutr Educ Behav. 2025.

OBJECTIVE: To examine nutrition practices among caregivers of young children with Down syndrome (DS), autistic children, and children without an intellectual or developmental disability (CWIDD). METHODS: Caregivers of CWIDD (n = 98), with DS (n = 44), and autistic children (n = 42) completed an online survey of nutrition practices. Data were analyzed using analysis of covariance and multivariate logistic regression. RESULTS: Families overall met < 40% of recommended nutrition practices, with families of children with DS meeting < 15%. Compared with families of autistic children and CWIDD, families of children with DS were less likely to serve vegetables or model healthy eating, and more likely to offer fried or prefried meats. CONCLUSIONS AND IMPLICATIONS: Disparities in nutrition practices and education across groups highlight the need for tailored interventions to support diverse families.

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6. Esen Öksüzoğlu M, Ünal D, Nalbant K, Kiliç B, Devecioğlu HB, Saruhan K, Ergül B, Çelik YS. Autistic traits in children with comorbid Specific Learning Disorder and Attention-Deficit/Hyperactivity Disorder: cognitive, behavioral, and teacher-reported predictors. J Clin Exp Neuropsychol. 2025: 1-12.

BACKGROUND: Children with comorbid Specific Learning Disorder (SLD) and Attention-Deficit/Hyperactivity Disorder (ADHD) often show elevated autistic traits, yet contributing cognitive and behavioral factors remain underexplored. This study compared cognitive-behavioral profiles of ADHD-only and SLD+ADHD groups and identified key autistic trait predictors using a multi-informant approach. METHODS: The study included 150 children aged 8-12 years, equally divided into ADHD-only and SLD+ADHD groups. Assessments included the Social Responsiveness Scale (SRS) for autistic traits, the Strengths and Difficulties Questionnaire (SDQ) for emotional-behavioral problems, a teacher-rated SLD Symptom Checklist (SLD-SC), and a clinician-administered cognitive battery (SLD-Battery of Cognitive Skills [SLD-BC]). RESULTS: Controlling for ADHD medication, children with SLD+ADHD had significantly higher SRS scores (p < .001), greater impairments on SLD-SC and SLD-BC, and higher SDQ-impact scores (p = .046). Stepwise regression identified SLD diagnosis, SLD-SC motivation and hyperactivity, SLD-BC head test and motor skills, and SDQ peer problems and hyperactivity as significant predictors of SRS scores, explaining 48.0% of the variance (R(2) = .480, F(7, 142) = 18.703, p < .001). CONCLUSION: Autistic traits in children with neurodevelopmental comorbidity are closely tied to motivational, executive, and sensorimotor deficits. Findings emphasize the need for integrated cognitive, behavioral, and teacher-reported evaluations to guide targeted interventions in complex developmental profiles.

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7. Fan X, Ko KS. Understanding dance/movement therapy: a qualitative study of Chinese parents of children with autism spectrum disorder. Front Psychol. 2025; 16: 1616329.

INTRODUCTION: This study explored the application of dance/movement therapy (DMT), a therapeutic method originating from the West, in the treatment of children with autism spectrum disorder (ASD) in China. Specifically, it examined how these children’s parents understood and perceived DMT. METHODS: A descriptive qualitative research design was employed. Five Chinese parents of children with ASD participated. Data were collected through three sources: videos of sessions, in-depth interviews, and movement interviews. Data analysis involved coding and categorization, resulting in 158 codes, 48 subcategories, and 14 categories. RESULTS: Five main themes were identified: (1) Facing the Unknown but Willing to Try, (2) Observing Embodied Communication and Emotional Growth, (3) Witnessing an Unexpected Therapeutic Relationship, (4) Seeing Therapy Extend into Daily Life, and (5) Reflecting on Parenting and Family Changes. DISCUSSION: The findings provide foundational insights into how parents of children with ASD perceive DMT in the Chinese cultural context. These results highlight the potential for implementing and promoting DMT in China based on parental perspectives.

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8. George B. Childhood Autism Tool – Trivandrum (CAT-T) – Development and Validation: Author’s Reply. Indian J Pediatr. 2025.

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9. Hope S, Lin A, Rodevand L, Hübenette SJ, Quintana DS, Sønderby IE, Cheng W, Frei O, Bahrami S, Hindley GFL, Kaale A, Shadrin AA, O’Connell KS, Parker N, Djurovic S, Nærland T, Andreassen OA. Shared genetic architecture between autism spectrum disorder, loneliness, and social isolation reveals novel genetic loci. Psychiatr Genet. 2025.

OBJECTIVE: Deficits in social communication and social interaction are core features of autism spectrum disorder (ASD), and studies suggest that loneliness and social isolation are common. ASD has a strong genetic basis, but the genetic architecture and overlap with social phenotypes are not clear. METHODS: We analyzed summary statistics from genome-wide association studies on ASD (46 350), loneliness (452 302), and social isolation (288 950), using linkage disequilibrium score regression, local analysis of covariant annotation (LAVA), bivariate causal mixture model (MiXeR), and the conditional/conjunctional false discovery rate (cond/conjFDR). RESULTS: For ASD and social isolation, we found nonsignificant global genetic correlation (rg = 0.02, P = 0.8), but LAVA identified 72 genomic regions with bidirectional correlations, and MiXeR estimated that 8.7 k of 13.1 k variants (81%) were shared, of which 53% had concordant effect directions. For ASD and loneliness, we found a positive genetic correlation (rg = 0.26, P = 2e-10), LAVA identified 80 genomic regions with bidirectional genetic correlations, and MiXeR suggested that at least 3.8 k variants were shared. We identified nine specific shared genetic loci between ASD and loneliness and eight between ASD and social isolation (conjFDR < 0.05). Of these, 12 loci were novel for ASD. Genes mapped to these loci are involved in γ-aminobutyric acid (GABA), glutamate, calcium, and stress hormone signaling, cerebral glucose transport, TAU-accumulation, and immune function. CONCLUSION: We found extensive overlap in genetic architecture between ASD, loneliness, and social isolation, with bidirectional effects. By leveraging data for ASD and social traits, we identified 12 novel ASD related genetic loci implicating several genes, thereby elucidating potential pathways underlying their shared genetic architecture.

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10. Hsu TT, Chen CP, Lin MH, Hung TE, Haung TN, Wang CY, Hsueh YP. Shared and divergent alteration of whole-brain connectivity and sensory deficits in multiple autism mouse models. Mol Psychiatry. 2025.

Autism spectrum disorder (ASD) is a heterogeneous developmental disconnection syndrome. Identifying circuit deficits is crucial for understanding ASD etiology, yet the involvement of multiple brain regions and genetic variations complicates this analysis. Here, using an AI-powered mapping platform, BM-auto (Brain Mapping with Auto-ROI correction), to analyze a Thy1-YFP reporter, we show that different ASD-associated mutations cause distinct circuit abnormalities but share common deficits in the piriform cortex, a region regulating olfactory discrimination and social behavior patterns. We analyzed the whole-brain distribution of the Thy1-YFP reporter in three ASD mouse models (Tbr1(+/-), Nf1(+/-), and Vcp(+/R95G)). YFP signals revealed altered axonal projections and structural connectivity. We also found that Thy1-YFP(+) cell numbers varied across brain regions, revealing deficits in the differentiation or maintenance of projection neurons. While each mutation caused unique connectivity alterations, sensory regions-including the visual, somatosensory, and piriform cortices-were recurrently affected. However, effects on the visual and somatosensory cortices varied between models. The piriform cortex was the only region consistently impaired, showing reduced YFP signals and fewer Thy1-YFP(+) neurons across all three models. Furthermore, all three mutants exhibited common olfactory discrimination impairments. Manipulating piriform cortex activity altered social behavior patterns, highlighting its role in ASD-linked circuit dysfunction. These findings underscore the vulnerability of sensory regions-especially the piriform cortex-to ASD-related mutations, strengthening the notion that altered sensory experiences are common in ASD.

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11. Iftekhar R, McMullan M, Campbell W, Skelton T, Jr. Thrombus on ASD Closure Device Reveals Underlying Thrombophilia. JACC Case Rep. 2025: 106037.

BACKGROUND: Transcatheter closure of atrial septal defects (ASDs) is indicated to prevent paradoxical embolism, and major complications are uncommon. However, even a small risk of thrombus formation can be amplified by an underlying thrombophilia. CASE SUMMARY: A 25-year-old woman with a history of embolic stroke underwent transcatheter ASD closure. Three years later, she presented with another stroke and was found to have thrombus on the closure device. She was started on long-term anticoagulation, and follow-up imaging showed resolution of the thrombus. Further evaluation revealed antiphospholipid syndrome, an autoimmune thrombophilia. DISCUSSION: This case highlights the importance of ruling out hypercoagulable conditions in patients with a thromboembolic event such as a stroke before ASD closure. In patients with underlying thrombophilia, a closure device may increase the risk of thrombus formation and contribute to future embolic events rather than preventing them. TAKE-HOME MESSAGES: Thorough thrombophilia screening should be considered before ASD closure in patients with embolic stroke. Undiagnosed hypercoagulable states may increase the risk of late-onset device-related thrombosis.

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12. Kaur S, Morales-Hidalgo P, Guxens M, Voltas N, Petricola S, Canals-Sans J. Association Between Prenatal Air Pollution Exposure and Autism in Children: EPINED Study. J Autism Dev Disord. 2025.

PURPOSE: Air pollutants are emerging as recognised contributing factors in the aetiology of neurodevelopmental disorders, particularly increasing the risk of autism in children. This study explored the association between prenatal exposure to air pollutants and the likelihood of developing autism, considering both autistic symptoms and diagnosed cases in a school-based population from Tarragona (Spain), a province with extensive petrochemical activity. METHODS: In the first phase, parents and teachers of 3,727 children (aged 4 and 11 years) completed screening questionnaires (CAST and EDUTEA, respectively). In the second phase, 623 children were individually assessed, and diagnoses were based on DSM-5 criteria (58 children with autism and 51 with subthreshold autistic traits). RESULTS: We performed multiple regressions, adjusting for individual, social, and family covariates. Significant associations were found between exposure to PM(coarse) (β-0.16; CI: 0.03-0.29), NO(2) (β-0.15; CI: 0.02-0.28), and NO(x) (β-0.18; CI: 0.03-0.34) and autism symptom scores reported by the teachers. Furthermore, a significant association suggests higher exposure to PM(2.5) (OR-1.66; CI: 1.03-2.65) and PM(10) (OR-1.46; CI: 1.01-2.12) during the second trimester of pregnancy can lead to higher chances of developing autism + subthreshold autistic traits in children. CONCLUSIONS: These findings emphasise the potential impact of specific air pollutants, particularly during critical periods of pregnancy and foetal development, highlighting the need to explore further the role of air pollutants associated with the increased likelihood of autism in children.

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13. Kawamura N, Sakamoto M, Hashimoto C, Ozeki Y, Machida K. Parental perceptions of the psychosocial outcomes of equine-assisted activities and therapies for children with autism spectrum disorder in Japan: a phenomenological study. Int J Qual Stud Health Well-being. 2025; 20(1): 2585638.

BACKGROUND: Children with autism spectrum disorder (ASD) often experience challenges in social communication, behavioral regulation, and daily life adaptation. Equine-assisted activities and therapies (EAATs) have been implemented as complementary approaches to support psychosocial development. However, little is known about the experiences of parents in Japan whose children participate in EAATs. AIM: The study aims to qualitatively explore how parents in Japan perceive the psychosocial outcomes of EAATs for their children with ASD. By focusing on parental perspectives, this study seeks to clarify how EAATs may contribute to the well-being of both children and their families, and to inform the development of supportive therapeutic environments. METHODS: This qualitative study employed a phenomenological approach. Semi-structured interviews were conducted with ten parents whose children with ASD had participated in EAATs for a minimum of six months. Thematic analysis was guided by Colaizzi’s method. RESULTS: Four primary developmental stages emerged from the analysis of children’s experiences: (1) Learning physical and mental harmony, (2) Exploring interests and strengthening bonds with oneself and others, (3) Inspiring independence and interaction, and (4) Building resilience and communication skills. Furthermore, parents reported three overarching outcomes from their own involvement: (1) Parental well-being and engagement through horseback riding, (2) Parental joy and recognition of their child’s growth, and (3) Fostering Family Connection and parent-to-parent interaction. Participant narratives illustrated these themes vividly, highlighting specific examples of behavioral and emotional change. CONCLUSIONS: EAATs were perceived by parents as fostering not only the psychosocial growth of children with ASD but also enhancing parental well-being and family cohesion. To support children’s psychosocial development and promote the health and well-being of their parents, nurses could play a distinctive role by observing both psychological and physical changes, monitoring how these influence daily functioning and interpersonal relationships, and supporting parents in interpreting their child’s developmental progress.

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14. Lee CJ, Man LLY, Morra A, Pace-Tonna C, Castelino C, Courchesne V, Frayne M, Luk V, Baharikhoob P, Jachyra P, Zaheer J, Ameis SH, Lin HY, Sawyer A, Lunsky Y, Lai MC. Psychiatric Emergency Visits of Autistic Adults With or Without Documented Borderline Personality Disorder. Autism Res. 2025.

Autism and borderline personality disorder (BPD) are each associated with increased psychiatric emergency department (PsyED) use, yet the service impact of coexisting autism-BPD remains unclear. We conducted a retrospective chart review of 1027 PsyED visits by 345 autistic adults (2018-2020) at an urban Canadian psychiatric hospital to compare service patterns between those with and without a BPD diagnosis. Sociodemographics, presenting reasons, restraint use, and disposition were analyzed using mixed-effects logistic regression. BPD was documented in 33.5% of visits and in 11.0% of unique autistic individuals, more often in birth-assigned females. Among all autistic individuals’ PsyED visits, an autism diagnosis was documented in 60.2% of their text-based charts. Furthermore, autism was documented less frequently when BPD was recorded, suggesting possible diagnostic overshadowing. Suicidality as the primary reason for visit was associated with documented BPD (OR 4.366, 95% CI 2.659-7.169; p < 0.001). No significant differences were observed in disposition (discharge vs. admission) or restraint use between birth-assigned sex, BPD status, or documentation of autism within the visit. Findings underscore the need for sex-sensitive, autism-aware assessments and trauma-informed care in PsyED settings, and caution against diagnostic overshadowing that influences clinical decision-making. Limitations include a single-site sample and lack of autism diagnosis timing data, precluding temporal inferences. Future work should test targeted interventions and clarify mechanisms of suicidality among autistic individuals with coexisting BPD. Integrated autism-BPD care pathways, with specialized outpatient supports, sensory-friendly adaptations, and structured referrals, may improve care and reduce PsyED visits.

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15. Lee QN, Lee JK, Harvey DJ, Liu P, Nordahl CW, Fan AP. Sex-specific cerebrovascular reactivity differences in autistic children related to functional connectivity. Imaging Neurosci (Camb). 2025; 3.

Many studies utilize resting-state functional magnetic resonance imaging (rs-fMRI) metrics, such as functional connectivity (FC), to investigate the neuronal underpinnings of autism and identify functional brain networks related to autistic behaviors. However, fMRI indirectly measures neuronal activity by imaging local fluctuations in the blood oxygen level dependent (BOLD) signal, which, in turn, rely on the cerebrovascular system to efficiently direct oxygenated blood flow. Most rs-fMRI studies of autism interpret group differences in FC as autism-related changes in neuronal activity, without considering the underlying vascular function. Yet, atypical cerebrovasculature has been identified in preclinical and post-mortem studies of autism, strongly underscoring the need to characterize cerebrovascular differences to enhance our neurobiological understanding of autism. We evaluated relative cerebrovascular reactivity (rCVR) in autistic and non-autistic children using a novel measure of local brain vasodilatory capacity based on rs-fMRI. We leveraged the cross-sectional Autism Brain Imaging Data Exchange repository to quantify rCVR in 199 non-autistic (74 female) and 95 autistic (16 female) children, 9-12 years old. We identified sex-specific differences in rCVR in autism, particularly in right-frontal brain regions, where rCVR was increased in autistic females compared to non-autistic females. Then, within the same rs-fMRI scans, we demonstrated that rCVR in the right inferior frontal gyrus was positively associated with its FC to regions associated with attentional control in girls, suggesting that cerebrovascular differences may differentially affect FC findings between regions and sexes in children. Our study highlights potential sex differences in cerebrovascular function in autism that enhance our neurobiological understanding of autism and improve interpretations of rs-fMRI findings in children.

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16. Lima Fialho KL, Vivas Miranda JG, Ramos YE, Saldanha de Lucena RC. Characterization of Neurophysiological, Motor, and Emotional Biomarkers in Adolescents with ASD: An Integrated Analysis with qEEG, Facial Expression, and Biomechanics Analysis. Clin EEG Neurosci. 2025: 15500594251394773.

This study investigated perceptual differences between adolescents with Autism Spectrum Disorder (ASD) and neurotypical individuals using a multidimensional approach involving quantitative electroencephalography (qEEG), biomechanical analysis with Movement Element Decomposition (MED), and facial microexpression tracking via FaceReader software. The study included 22 adolescents (8 with ASD and 14 controls), evaluated under four experimental conditions: rest (eyes open and closed) and exposure to visual/auditory stimuli. Findings indicated increased Delta band activity in the ASD group, absence of Alpha band reactivity, greater postural instability, altered oscillation patterns, and a predominance of neutral emotional expressions. The results suggest that individuals with ASD exhibit distinct patterns of sensory, motor, and emotional processing, highlighting the potential of these tools as biomarkers for diagnosis and intervention.

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17. Mathée-Scott J, Corrigan G, Lorang E, Hesse Z, Johnson J, Venker CE. A novel method for examining autistic children’s comprehension of individual words produced within delayed echolalia: a proof-of-concept pilot study. Front Psychol. 2025; 16: 1681076.

Delayed echolalia, or the repetition of previously heard speech, is often observed in the expressive language of autistic children. Relatively little is known about how the production of delayed echolalia fits within the overall picture of autistic children’s language ability, including receptive language. To date, no empirical studies have tested autistic children’s comprehension of individual words within their delayed echoes. The present study aimed to establish proof-of-concept for a novel method of examining children’s comprehension of individual words that they produce in their own delayed echoes. Using natural language sampling combined with parent report, we identified instances of delayed echolalia in two young autistic children. We then employed eyegaze methods (i.e., Looking-While-Listening) to test children’s comprehension of individual target words derived from their delayed echoes. Preliminary results revealed that two autistic participants demonstrated comprehension of individual words that they produced in delayed echoes in two different carrier phrases and as single words (p’s < 0.001). These findings suggest that it is feasible to employ eyegaze methods to test autistic children's comprehension of the individual words within their own delayed echoes.

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18. Meier C, Gunn G, Kenneson A. Genetic needs assessment of children with intellectual disability, developmental delay, hearing loss, and/or autism spectrum disorder. Pediatr Res. 2025.

BACKGROUND: Referral to genetics specialists plays a pivotal role in the diagnostic journey of pediatric patients with conditions such as autism spectrum disorder (ASD), developmental delay, intellectual disability, and hearing loss. Although there are referral guidelines in place from the American College of Medical Genetics and Genomics (ACMG), not all eligible children receive referrals. Among individuals with ASD, developmental delay, or intellectual disability, only about 20-50% of eligible patients are referred for genetic testing. Additionally, further barriers hinder those who are referred from accessing care. Our study delves into these often-overlooked barriers impeding pediatric patients’ access to genetics services. METHODS: We invited the parents of young children with one of the aforementioned conditions, identified through early intervention and related programs, including family-professional organizations, in South Carolina and Florida, to complete an online survey about referral to genetic services and barriers to attending a genetics consultation. RESULTS: Insurance coverage for genetic testing was a barrier both for referral to genetics and attendance at a genetics consultation. The child’s race was a predictor of attendance at a genetics consultation after referral. CONCLUSION: Our study highlights the critical need to address barriers, such as insurance coverage and racial disparities, that prevent pediatric patients from accessing genetics services. IMPACT: We investigated barriers to genetic services for pediatric patients who were not referred or who were referred but never attended, study populations that are under-represented in the literature. This study sheds light on key factors influencing referral to and attendance at genetics consultations for pediatric patients, including race and health insurance coverage for genetic testing. Our findings emphasize the need for genetics education and improved accessibility to genetics services.

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19. Salahshoor S, Renbarger KM. AI-enhanced, digital psychosocial interventions for pediatric developmental disabilities: A scoping review. J Pediatr Nurs. 2025; 86: 199-206.

BACKGROUND: A variety of challenges exist to the well-being of children and adolescents with developmental disabilities (DDs). Barriers exist to traditional, in-person psychosocial services for many children and adolescents with DDs. Pediatric nurses often have limited time to provide psychosocial support to this population in the clinical setting. Artificial Intelligence (AI)-enhanced, digital psychosocial interventions can help fill this gap by providing tools that support emotional and mental health outside of brief clinical encounters. OBJECTIVE: This paper mapped the existing literature on the experiences of children and adolescents with DDs with AI-enhanced, digital psychosocial interventions, highlighting intervention types, psychosocial outcomes, challenges, and implications for pediatric nursing. METHODS: Using Arksey and O’Malley’s scoping review framework, we searched APA PsycINFO, CINAHL, Embase, and PubMed (January 2015-July 2025) for peer-reviewed, English-language studies evaluating AI-enhanced digital psychosocial interventions for children/adolescents with DDs. Eligible interventions included chatbots, neurofeedback, serious games, and apps with adaptive algorithms. RESULTS: Seven studies met inclusion criteria, underscoring an early evidence base at the intersection of pediatric DDs, psychosocial care, and AI. Interventions improved quality of life, emotion regulation, language, and social communication, but challenges included participant dropouts, vocabulary mismatches, and technical issues (e.g., network failures). CONCLUSION: Artificial intelligence-enhanced, digital psychosocial interventions show promise, but evidence is limited, fragmented, and focused mainly on autism spectrum disorder. Multicenter and cost-effectiveness studies are needed. Pediatric nurses can guide families in selecting and integrating these tools.

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20. Simon AJ, Picard N, d’Andrea V, Chang E, Leffler J, Centofante E, Taylor M, Bardi F, Cavicchiolo F, Hensch TK, Panzeri S, Chen C, Fagiolini M. Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome. Ann Clin Transl Neurol. 2025.

OBJECTIVE: Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions. Although genetic medicine-based therapies targeting MeCP2 have successfully restored motor and respiratory functions in animal models, their ability to reverse sensory deficits across levels of the visual pathway remains largely unexplored. METHODS: Using genetically reversible mouse models of MeCP2 deficiency (Mecp2(stop/y) and Mecp2(stop/x)), we applied advanced electrophysiological, anatomical, and behavioral techniques to evaluate visual function, a critical sensory domain impaired in both animal models and RTT patients. RESULTS: In Mecp2(stop/y) mice, initiating MeCP2 expression after postnatal day 35 (P35) reversed progressive cortical dysfunction, prevented thalamic circuit disorganization, and restored visual function, despite some remaining cortical anatomical abnormalities. Even in fully regressed adult Mecp2(stop/x) heterozygous female mice, MeCP2 reactivation was sufficient to reduce the symptoms. INTERPRETATION: These findings highlight the remarkable sensitivity of cortical circuits to MeCP2 expression in both developing and mature brain. Importantly, restoring just 60%-70% of MeCP2 protein levels was sufficient to rescue sensory functions, even after the onset of regression. This underscores the transformative potential of genetic medicine-based therapies in RTT, suggesting that even partial restoration of MeCP2 can meaningfully improve sensory processing and quality of life for patients.

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21. Siracusano M, Arturi L, Riccioni A, Medoro A, Savino R, Scapagnini G, Davinelli S, Mazzone L. Feeding difficulties, eating disorders and therapeutic approaches in autism spectrum disorder: An overview. Pharmacol Res. 2025; 222: 108040.

Feeding problems are highly prevalent in individuals with autism spectrum disorder (ASD) from early developmental stages. Difficulties during the transition to solid foods, limited dietary variety, and reluctance to try new foods since infancy, combined with gastrointestinal disorders, represent significant concerns for both parents and clinicians from diagnostic and, more importantly, therapeutic perspectives. The primary clinical link between atypical eating behaviors and core autistic symptoms lies in aberrant sensory processing and an insistence on sameness, which have important implications for intervention strategies. Additionally, the increased risk of gastrointestinal disorders and altered gut microbiome composition in individuals with ASD constitute another critical factor, opening avenues for novel therapeutic approaches. Therefore, the aim of this review is to summarize the existing literature on therapeutic approaches for feeding problems in ASD, with a focus on evidence-based practices across pharmacological, psychological, and nutritional domains.

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22. Vivanti G, Lombardo MV, Zitter A, Boyd B, Dissanayake C, Dufek S, Flanagan HE, Iadarola S, Kaiser A, Kim SH, Levato L, Lord C, Plavnick J, Robins DL, Rogers SJ, Smith IM, Smith T, Stahmer A, Watson L. Proportion and Profile of Autistic Children Not Acquiring Spoken Language Despite Receiving Evidence-Based Early Interventions. J Clin Child Adolesc Psychol. 2025: 1-18.

OBJECTIVE: To determine the proportion and profile of preschoolers on the autism spectrum who do not acquire spoken language despite receiving evidence-supported interventions that target spoken language. METHODS: We examined an aggregate dataset comprising 707 preschoolers on the autism spectrum who had received evidence-supported interventions to determine the proportion and profile of those who experienced limited progress in spoken language. Interventions were delivered through programs affiliated with university research settings and ranged in duration from 6 to 24 months. Spoken language outcomes were determined from parent-report measures, which were validated against direct assessments and natural language samples. RESULTS: Approximately two-thirds of children who were non-speaking at baseline were using single words or more complex spoken language by intervention exit. Those who remained non-speaking had lower baseline motor imitation scores, derived mainly from parent reports. Approximately half of the children who were minimally speaking (i.e. had single words or no words) at baseline were combining words by intervention exit. Those who did not acquire word combinations had lower baseline scores in cognitive, social, adaptive and motor imitation measures, and shorter intervention duration. Age at intervention start influenced spoken language advancement differently depending on the initial spoken language level. The odds of acquiring spoken language did not differ based on the intervention received. CONCLUSIONS: Approximately one-third of children who had limited or no spoken language at baseline did not advance to spoken language stages following intervention. Development of spoken language was associated with modifiable factors at the child and intervention level.

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23. Wang B, Xiao Y, Qian Y, Li S, Zhang H, Reiling K, Rozelle S. Effect of the ‘digital plus’ approach to upscaling early childhood development services in rural China: study protocol for a cluster randomised controlled trial. BMJ Open. 2025; 15(11): e099427.

INTRODUCTION: The high prevalence of developmental delays among young children poses significant barriers to long-term social mobility in low-income and middle-income countries. Digital interventions aimed at early childhood development (ECD) have shown promise in improving developmental outcomes, yet scalable and effective strategies remain under-explored. This study aims to evaluate the effectiveness of a digitally delivered parenting intervention to improve early child development in rural China. METHOD AND ANALYSIS: We design a parallel cluster-randomised controlled trial to evaluate a 12-month digitally delivered ECD intervention in rural China. Key inclusion criteria are households with children aged 6-24 months and without relocation intentions. Key exclusion criteria are children with a severe disability. Participants are masked to treatment assignment. The project implements village-level interventions in three counties in central China, involving 70 villages (clusters). Implementation involves two phases: the preparatory phase and the online phase, in which ‘Parenting the Future’ curriculum will be delivered through a newly developed mobile application. During the preparatory phase, county-level parenting trainers will conduct weekly home visits to each sampled household. In the online phase, caregivers will primarily access weekly parenting training through prerecorded videos on a mobile application. Trainers will conduct short, fortnightly home visits to manage toys and picture books loaned through the same application in accordance with the training. The planned total treatment involves 48 sessions over 1 year. Assessments were conducted via home visits at baseline and endline. The primary outcomes include cognitive development measured with the Bayley Scales of Infant and Toddler Development, third edition and social-emotional development measured with the age and stage questionnaire: social emotional. Secondary outcomes include caregiver engagement and the home learning environment measured by family care indicators and responsive caregiving rating scale. The trial aims to test the effectiveness and scalability of a hybrid ECD intervention. ETHICS AND DISSEMINATION: Ethical approval for this study has been obtained from the Institutional Review Board of Southwestern University of Finance and Economics. Informed consent will be obtained from all participants, with appropriate measures in place to ensure participant confidentiality. Results from the study will be shared through academic publications, policy briefs and presentations to government stakeholders and international organisations, contributing to policy discussions on the scalability of digital ECD interventions. TRIAL REGISTRATION NUMBER: AEA RCT Registry (AEARCTR-0013908); ISRCTN Registry (ISRCTN15854033).

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24. Wieczorko N, Bellantonio E, Napoli SB, Lejarraga C, Pedernera Bradichansky P, Urinovsky MG, Escalante AS, Rodríguez LS, Russo FM, Argento JI, Perea D’Olivo WF, Cafiero PJ. Girls and female adolescents diagnosed with autism spectrum disorder: A descriptive study. Arch Argent Pediatr. 2025: e202510781.

Introduction. Autism spectrum disorder (ASD) presents challenges in social communication and behavior. It is more common in males (3:1). Girls receive alternative or delayed diagnoses due to better communication skills, atypical but less unusual interests, greater presence of internalizing behaviors, and camouflage strategies. This can lead to underdiagnosis and limit access to adequate support. Objective. To describe the population of girls and female adolescents (GFA) with ASD being monitored at a tertiary hospital, comparing them according to age and clinical characteristics. Population and methods. Descriptive, cross-sectional study with retrospective analysis of medical records of GFAs evaluated between 2002 and 2024. Data on development, physical examination, and sociodemographic variables were collected. The sample was divided into preschoolers and schoolchildren, and by the presence or absence of language at the time of diagnosis. Results. A sample of 415 GFAs was obtained. Sixteen percent (n = 69) received a late diagnosis. In older girls, two profiles were identified: one compatible with the female phenotype of ASD (language present, lower intellectual disability, consultation for social difficulties) and another with characteristics of profound autism (no language, higher intellectual disability, epilepsy, regression, and greater severity). In preschoolers, cognitive impairment or failure to adapt to formal assessments predominated. A family history of ASD or an broader autism phenotype were present in 19.5% (n = 81) of cases. Conclusion. We observed a high clinical variability, which requires greater diagnostic sensitivity and specific tools to facilitate adequate support.

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25. Wu H, Shen L, Indajang J, Savalia NK, Johnson TG, Qu J, Bender KJ, Kwan AC. Autism-associated Scn2a haploinsufficiency disrupts in vivo dendritic signaling and impairs flexible decision-making. Proc Natl Acad Sci U S A. 2025; 122(47): e2508836122.

SCN2A is a high-confidence risk gene for autism spectrum disorder. Loss-of-function mutations in Scn2a reduce dendritic excitability in neocortical pyramidal cells. However, the impact of Scn2a haploinsufficiency on dendritic signaling in vivo, particularly during behavior, is unknown. In this study, we used two-photon microscopy to image dendritic calcium transients in deep layer pyramidal cells in the mouse medial frontal cortex. Scn2a(+/-) mice had diminished coupling between apical and proximal dendritic compartments. Pyramidal tract neurons had abnormal event rates, while intratelencephalic neurons had compartment-specific alterations indicative of diminished dendritic integration. In a matching pennies task, Scn2a(+/-) mice were inflexible in the face of changing competitive pressure. Apical dendritic tuft in intratelencephalic neurons typically encoded reward and strategy, but these task-specific representations were altered in Scn2a(+/-) mice. Collectively, the findings demonstrate that Scn2a haploinsufficiency weakens dendritic integration in vivo and disrupts dendritic encoding of task variables during flexible decision-making.

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26. Zhao LN, Du XG, Song HJ, Zhao NX, Li BX, Li T. [Meta-analysis of efficacy and safety of scalp acupuncture in the treatment of autism spectrum disorder]. Zhen Ci Yan Jiu. 2025; 50(11): 1352-64.

OBJECTIVES: To assess the efficacy and safety of scalp acupuncture in the treatment of autism spectrum disorder (ASD). METHODS: A comprehensive search was conducted using PubMed, EMbase, The Cochrane Library, Web of Science, SinoMed, China National Knowledge Internet, China Science and Technology Journal Database, and Wanfang Data databases. The Cochrane Handbook of Systematic Reviews 5.1.0 was used to evaluate the risk of bias in the included randomized control trials (RCTs). A Meta-analysis was performed using RevMan 5.4.1 statistical software. RESULTS: A total of 33 RCTs were included, including 2 701 patients with ASD. Meta-analysis results showed that compared with the rehabilitation training group, the scalp acupuncture combined with rehabilitation training could significantly reduce the autism behavior rating scale score [MD= -5.70, 95% CI (-6.51, -4.89), P<0.01], and childhood autism rating scale score [MD= -4.02, 95% CI (-4.38, -3.66), P<0.01], and improve the Gesell developmental diagnostic scale-social adaptative developmental quotient [MD=5.90, 95% CI (4.29, 7.51), P<0.01], Gesell-language development quotient [MD=4.39, 95% CI (3.03, 5.75), P<0.01], Gesell-personal social competence [MD=4.32, 95% CI (2.48, 6.15), P<0.01], psychoeducational assessment for children 3(rd) edition (PEP-3)-communication skills score [MD=3.76, 95% CI (3.25, 4.27), P<0.01], PEP-3-physical agility score [MD=1.99, 95% CI (1.40, 2.59), P<0.01], and PEP-3-behavior score [MD=2.18, 95% CI (1.77, 2.59), P<0.01]. CONCLUSIONS: Scalp acupuncture is effective in improving the language problems, behavior problems, social adaptation and other symptoms of autism children, and has high safety. However, due to the insufficient quality of the research methods included in the literature, the integration of subjects with different severity and age, and the wide variation in the duration of the intervention, the conclusion of this study still needs to be validated by more rigorous and high-quality randomized controlled trials, with long-term follow up.

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