Pubmed (TSA) du 28/01/26
1. Adl Parvar T, Karimi K, Rasoulian P, Dolatshahi S, Asgarian S, Danandeh K, Taherkhani T, Memari A, Mansournia MA. Distinguishing Behavioral Comorbidities in Autism: The Predominant Role of Attention and Thought Problems in Social Skills Difficulties. J Autism Dev Disord. 2026.
PURPOSE: Social difficulties are fundamental aspects of autism spectrum disorder (ASD). However, behavioral issues such as attention difficulties, thought problems, externalizing behaviors, and internalizing behaviors can further hinder children’s ability to develop social skills. We aimed to explore how co-occurring behavioral challenges may intensify social difficulties in autistic children and adolescents by assessing whether a higher prevalence of behavioral problems is associated with poorer social functioning in real-world scenarios. METHODS: We surveyed parents of 225 children diagnosed with ASD. Parents completed two questionnaires-the Child Behavior Checklist (CBCL) measuring psychiatric symptoms, and the Social Skills Improvement System (SSIS) assessing observable social abilities. We statistically analyzed the connection between behavioral scores and social scores. RESULTS: The results showed that more severe behavioral issues on the CBCL tied to weaker social skills overall on the SSIS. Among all behavioral domains, attention problems showed the strongest negative associations with total social skills and all subdomains. Thought problems also demonstrated significant negative association with several aspects of social functioning. Externalizing behaviors and internalizing behaviors were also negatively associated with social skills, though their effects were less pronounced than those of attention and thought problems. CONCLUSION: Our findings provide real-world evidence that common co-occurring behavioral problems especially attention problems and thought problems showed strong negative associations with social skill difficulties in autistic children and adolescents. Screening for and adjusting conditions like attention problems, thought problems, and disruptive behaviors may be an important piece of helping autistic children build social competence.
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2. Al-Natsheh B, Imam A. Effectiveness of the Mindful Motherhood Support Program on Quality of Life Among Palestinian Mothers of Children with Autism Spectrum Disorder: A Quasi-Experimental Study. Int J Environ Res Public Health. 2025; 23(1).
Raising a child with autism spectrum disorder (ASD) presents severe difficulties that adversely affect the mother’s quality of life (QoL). However, very limited research has examined the impacts of support programs on the QoL of mothers of children with ASD in the Palestinian context. This study assesses the effectiveness of Mindful Motherhood, a comprehensive intervention, in improving QoL in this population. A quasi-experimental design was employed, with 56 mothers assigned to experimental or control groups. Quality of Life (QoL) was measured using the WHOQOL-BREF at baseline, post-intervention, and at a six-month follow-up. The 12-week group-based program led to significant improvements in all QoL domains for the experimental group compared to the controls, with the highest effect sizes in psychological (|δ| = 0.70) and overall QoL (|δ| = 0.68) domains; furthermore, these gains were largely sustained at the six-month follow-up assessment. The results are expected to inform policymakers in developing sustainable support systems for mothers and promoting inclusive, family-centered approaches to ASD care in the Palestinian context.
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3. Alhussain JM, Ibrahim AI. Assessment of Motor Performance in Children with Autism Spectrum Disorder: The Relationship Between Clinical Characteristics and Intelligence-An Exploratory Cross-Sectional Study. Medicina (Kaunas). 2026; 62(1).
Background and Objectives: Evidence on motor performance in children with autism spectrum disorder (ASD) is scarce and inconsistent. The association of motor impairments with autism severity and intelligence remains insufficiently studied. We aimed to examine motor performance parameters in children with ASD compared with typically developing (TD) peers. Materials and Methods: In this cross-sectional study, a convenience sample of 26 children with ASD, aged 4-10 years, was recruited from specialized centers in KSA, alongside 27 age- and sex-matched TD children. For the ASD group, severity (Childhood Autism Rating Scale, CARS-2) and intelligence quotient (Stanford-Binet Intelligence Scale, SB5) were extracted from medical records. CARS-2 score was utilized to categorize children with ASD into two groups (mild-to-moderate and severe groups). All study children were assessed for gross and fine motor skills using the Movement Assessment Battery for Children-2 (MABC-2), balance, muscle strength, endurance, and flexibility. Results: ASD groups recorded significantly lower scores in all MABC-2 component areas when compared to the TD group (p < 0.001). Aiming and catching percentile was significantly lower in the severe ASD group compared to the mild-to-moderate group (p = 0.05). Furthermore, children with ASD exhibited increased hypermobility, predominantly at the elbow joints, reduced grip strength, shorter distance in the modified 6 min walk test, and lower standing long-jump performance (p < 0.001) when compared to TD group; however, no significant difference was recorded between the ASD groups. Spearman correlation revealed that aiming and catching was negatively correlated with autism severity (CARS-2) (r = -0.38, p = 0.05) and positively with IQ (r = 0.51, p = 0.03). Aiming and catching was positively correlated with grip strength (r = 0.55, p = 0.003), endurance (r = 0.58, p = 0.002), and jump distance (r = 0.44, p = 0.03), while balance was positively correlated with grip strength (r = 0.44, p = 0.02). Conclusions: Children with ASD exhibit significant impairments in gross and fine motor performance compared with TD peers, accompanied by hypermobility, reduced strength, and diminished endurance. Notably, aiming and catching ability correlated with both IQ and autism severity as well as specific motor parameters, suggesting its potential as a clinical marker of motor-cognitive interaction in ASD.
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4. AlQurashi FO, Alawam BS, Alhaddad B, Alrebh ZA. Case Report: Hyperprolinemia type II in a child with autism spectrum disorder and ALDH4A1 gene variant in a consanguineous family. Front Pediatr. 2025; 13: 1726800.
Hyperprolinemia type II (HPII) is a rare inherited metabolic disorder caused by the ALDH4A1 gene variant. Herein, we report a case of a preschool-aged Saudi girl who was born from consanguineous parents and presented with global developmental delay. The patient was clinically diagnosed with autism spectrum disorder with associated disruptive behaviors. Metabolic investigations revealed markedly elevated plasma and urinary proline levels, suggestive of a proline metabolism disorder. Whole-exome sequencing identified a homozygous variant of uncertain significance in the ALDH4A1 gene, which is associated with autosomal recessive HPII. Genetic testing of the patient’s family members showed that all individuals had carrier status with varying zygosity. This case underscores the importance of metabolic and genetic evaluation in children with neurodevelopmental disorders and highlights that HPII can present with a clinical phenotype that overlaps substantially with ASD.
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5. Aykutlu HC, Atlı E, Bozatlı L, Güler HS, Çınar C, Kütükçü A, Gürkan H, Görker I. No Association Between Autism Spectrum Disorder and Mitochondrial DNA Variants: A Comprehensive Genetic Study in Trakya Population. Int J Dev Neurosci. 2026; 86(1): e70100.
BACKGROUND: Autism spectrum disorder (ASD) has a strong genetic basis, yet specific etiological factors remain unidentified in the majority of cases. Mitochondrial DNA (mtDNA) variations have been hypothesized as potential contributors to ASD development. However, the precise role of mtDNA remains unclear due to inconsistent findings across studies, which often suffer from methodological limitations. AIMS: This study aimed to comprehensively investigate the association between mtDNA variants, gene-level variant burden and haplogroup distributions in a Turkish paediatric ASD cohort. STUDY DESIGN: Case control study. METHODS: Whole mtDNA analysis of peripheral blood samples from 95 children with ASD and 95 healthy controls was performed using next-generation sequencing. Identified variations were evaluated for pathogenicity via genomic databases and in silico analyses. Potentially pathogenic variations underwent segregation analysis. Additionally, mtDNA haplogroup distributions were compared between the groups. RESULTS: The overall frequency of mtDNA variants was significantly higher in the ASD group than in the control group (p = 0.033). The ASD cohort harboured 23 distinct variants (initially classified as three pathogenic/likely pathogenic (P/LP) and 20 variants of uncertain significance [VUS]); while the control group had 13 VUS and no P/LP variants. Gene-based burden analysis identified a significantly higher variant load in the MT-CYB gene within the ASD cohort (FDR = 0.048). However, segregation analysis of the P/LP variants (including m.827A > C, m.9804G > A and a novel MT-CYB variant) revealed maternal inheritance from asymptomatic mothers. Consequently, all P/LP variants were reclassified as VUS. No significant difference was found in mtDNA haplogroup distribution between groups. CONCLUSION: Through comprehensive mtDNA scanning and rigorous pathogenicity assessment, our findings suggest that mtDNA variations are not implicated in the pathogenesis of ASD. However, given the complex nature of ASD, future research is needed with larger sample sizes, standardized pathogenicity assessment criteria and detailed phenotypic analyses to further elucidate the relationship between mtDNA variants and ASD.
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6. Bashawieh OO, Alyami MH, Alghamdi MA, Alotaibi FE, Alluhaybi AA, Altuhaini KS. Neurodevelopmental outcomes in children with craniosynostosis: a retrospective cross-sectional analysis. Childs Nerv Syst. 2026; 42(1): 49.
OBJECTIVE: This retrospective study evaluated neurodevelopmental outcomes including cognitive, motor, language, and social functioning in children with craniosynostosis and examined the influence of suture type, syndromic status, timing of surgery, and raised intracranial pressure. METHODS: A cross-sectional retrospective study of 150 children (ages 3-12) with craniosynostosis was conducted using medical records and standardized neurodevelopmental tests. Statistical analyses included t-tests, chi-square tests, and multivariate regression. RESULTS: Metopic synostosis was associated with slightly lower language and higher social impairment scores, but these differences were not significant after adjustment. Surgery before 9 months conferred ~5-point advantages in cognitive and motor outcomes, particularly in sagittal and coronal synostosis. Raised intracranial pressure, present in 13%, was linked to poorer outcomes. CONCLUSION: Neurodevelopmental outcomes in children with craniosynostosis are primarily influenced by syndromic status, timing of surgery, and raised intracranial pressure rather than suture type alone. Early surgical intervention before 9 months has been associated with improved cognitive and motor outcomes, supporting early referral and intervention.
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7. Batrancea LM, Akgüller Ö, Balcı MA, Gaban L. Hierarchical Network Organization and Dynamic Perturbation Propagation in Autism Spectrum Disorder: An Integrative Machine Learning and Hypergraph Analysis Reveals Super-Hub Genes and Therapeutic Targets. Biomedicines. 2026; 14(1).
Background/Objectives: Autism spectrum disorder (ASD) exhibits remarkable genetic heterogeneity involving hundreds of risk genes; however, the mechanism by which these genes organize within biological networks to contribute to disease pathogenesis remains incompletely understood. This study aims to elucidate these organizational principles and identify critical network bottlenecks using a novel integrative computational framework. Methods: We analyzed 893 SFARI genes using a three-pronged computational approach: (1) a Machine Learning Dynamic Perturbation Propagation algorithm; (2) a hypergraph construction method explicitly modeling multi-gene complexes by integrating protein-protein interactions, co-expression modules, and curated pathways; and (3) Hypergraph Neural Network embeddings for gene clustering. Validation was performed using hub-independent features to address potential circularity, followed by a druggability assessment to prioritize therapeutic targets. Results: The hypergraph construction captured 3847 multi-way relationships, representing a 45% increase in biological relationships compared to pairwise networks. The perturbation algorithm achieved a 51% higher correlation with TADA genetic evidence than random walk methods. Analysis revealed a hierarchical organization where 179 hub genes exhibited a 3.22-fold increase in degree centrality and a 4.71-fold increase in perturbation scores relative to non-hub genes. Hypergraph Neural Network clustering identified five distinct gene clusters, including a « super-hub » cluster of 10 genes enriched in synaptic signaling (4.2-fold) and chromatin remodeling (3.9-fold). Validation confirmed that 8 of these 10 genes co-cluster even without topological information. Finally, we identified high-priority therapeutic targets, including ARID1A, POLR2A, and CACNB1. Conclusions: These findings establish hierarchical network organization principles in ASD, demonstrating that hub genes maintain substantially elevated perturbation states. The identification of critical network bottlenecks and pharmacologically tractable targets provides a foundation for understanding autism pathogenesis and developing precision medicine approaches.
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8. Berni M, Mutti G, Tancredi R, Muratori F, Calderoni S. Vitamin D and Omega-3 Supplementation for Emotional and Behavioral Dysregulation in Autism Spectrum Disorders: A Systematic Review. J Clin Med. 2026; 15(2).
Background/Objectives: Emotional dysregulation (ED) is emerging as a major contributor to functional impairment in Autism Spectrum Disorder (ASD). Although effective behavioral interventions exist, pharmacological treatments remain constrained by side effects and variable tolerability. Given their neurobiological roles that include neurotransmission, inflammation, and neuroplasticity, vitamin D and omega-3 polyunsaturated fatty acids (PUFAs) have been identified as promising candidates for modulating emotional and behavioral dysregulation. This systematic review aimed to evaluate the efficacy of combined vitamin D and omega-3 supplementation in improving emotional and behavioral regulation in individuals with ASD. Methods: This review was conducted in accordance with PRISMA guidelines. Included studies were English peer-reviewed studies involving participants with ASD that assessed combined vitamin D and omega-3 suppleupplementation with outcomes related to emotional or behavioral dysregulation. The search was restricted to 2015-2025 to ensure inclusion of recent, methodologically consistent studies and to minimize heterogeneity in diagnostic criteria and supplementation protocols. Results: Of 649 records initially screened, 3 studies met inclusion criteria: one randomized controlled trial, one observational study, and one case report, involving participants ranging from early childhood to young adulthood. Across studies, combined supplementation was associated with improvements in irritability, hyperactivity, agitation, and self-injurious behaviors. These clinical effects were accompanied by specific biochemical changes, including reductions in the AA/EPA ratio, increases in serum 25(OH)D and omega-3 indices, and decreased urinary levels of HVA and VMA. Conclusions: This review indicates that co-supplementation with vitamin D and omega-3 fatty acids may exert preliminary beneficial effects on emotional and behavioral dysregulation in individuals with ASD, potentially through anti-inflammatory and neuroregulatory mechanisms. However, the available evidence remains limited due to a small number of studies, their modest sample size, and methodological heterogeneity. Further, biomarker-driven randomized studies are needed to confirm efficacy and delineate optimal dosing strategies for application in clinics.
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9. Brumpton HL, Kargas N. Perceived Benefits and Barriers for Autistic Adults Accessing Therapeutic Horse Riding for Mental Health. Behav Sci (Basel). 2026; 16(1).
Therapeutic horse riding (THR) is a non-traditional intervention that may support mental well-being in individuals with autism spectrum conditions. Despite growing interest, most research has focused on children and has tended to privilege practitioner or caregiver perspectives, leaving autistic adults underrepresented. This qualitative study explores the psychological benefits and systemic barriers associated with THR among Autistic adults, drawing on perspectives from both clients and practitioners. Semi-structured interviews were conducted with six Autistic clients and four practitioners, and the data were analysed using reflexive thematic analysis. Five overarching themes were constructed: Facing the Puissance: barriers to accessing THR, Pathways to Participation, Embodied Engagement, To Understand and To Be Understood, and Beyond the Arena-Impacts That Last. Participants described enjoyment, increased confidence, and a sense of achievement, with effects accumulating over time and often extending beyond the riding arena into daily life. Barriers included cost, accessibility, and limited availability of appropriately trained staff and facilities. These findings add to the limited evidence base on THR for Autistic adults by providing an in-depth, contextually grounded account of participants’ experiences. They suggest that, for verbally fluent Autistic adults who choose to access THR in similar settings, THR can enhance well-being, self-agency, and relationship-building, whilst also revealing structural obstacles that restrict equitable access.
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10. Chelef A, Yuksel Dal D, Ozturk M, Yousif MAA, Koc G. Lean-NET-Based Local Brain Connectome Analysis for Autism Spectrum Disorder Classification. Bioengineering (Basel). 2026; 13(1).
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impairments in social interaction and communication, along with atypical behavioral patterns. Affected individuals often seem isolated in their inner world and exhibit particular sensory reactions. The World Health Organization has indicated a persistent increase in the global prevalence of autism, with approximately 1 in 127 persons affected worldwide. This study contributes to the growing research effort by presenting a comprehensive analysis of functional connectivity patterns for ASD prediction using rs-fMRI datasets. A novel approach was used for ASD identification using the ABIDE II dataset, based on functional networks derived from BOLD signals. The sparse functional brain connectome (Lean-NET) model is employed to construct subject-specific connectomes, from which local graph metrics are extracted to quantify regional network properties. Statistically significant features are selected using Welch’s t-test, then subjected to False Discovery Rate (FDR) correction and classified using a Support Vector Machine (SVM). Our experimental results demonstrate that locally derived graph metrics effectively discriminate ASD from typically developing (TD) subjects and achieve accuracy ranging from 70% up to 91%, highlighting the potential of graph learning approaches for functional connectivity analysis and ASD characterization.
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11. Chiperi LE, Tecar C, Pop RS. Psychomotor Development in Pediatric Patients with Congenital Heart Defects Prior to Surgical Intervention: Findings from a Prospective Cross-Sectional Study. Medicina (Kaunas). 2026; 62(1).
Background and Objectives: Psychomotor developmental delay is a frequent comorbidity in children with congenital heart defects (CHD), especially after surgical correction of the CHD and exposure to risk factors such as anesthesia, cardiopulmonary bypass and postoperative complications. Yet psychomotor delay is present in these patients before surgical correction but is under-recognized. Evidence focusing solely on unrepaired CHD remains limited. Materials and Methods: This prospective cross-sectional study evaluated 153 and included 77 children under 6 years of age with unrepaired CHD, stratified into cyanotic (n = 31) and non-cyanotic (n = 46) CHD, admitted to a pediatric cardiology department over a period of 5 years. Psychomotor development was assessed using the Denver Developmental Screening Test II (DDST-II), standardized for pediatric population. Associations with clinical, perinatal, and demographic factors were analyzed using univariate and multivariate methods. Results: Developmental delay was identified in 97% of cyanotic and 54% of non-cyanotic patients. Compared to healthy norms, CHD patients had significantly lower global developmental scores (p = 0.03). Gross motor and personal-social domains were most frequently affected. Prenatal CHD diagnosis correlated with better global developmental scores (p = 0.012), and breastfeeding was associated with improved outcomes compared with formula or mixed feeding (p = 0.008). Conclusions: Infants and young children with CHD are at increased risk of early psychomotor developmental delay, particularly in the gross motor and personal-social domains, even before exposure to surgical or intensive care damaging factors. Systematic psychomotor surveillance, integration of protective factors such as prenatal diagnosis and breastfeeding, and timely access to multidisciplinary interventions are essential to optimize long-term outcomes in this vulnerable population.
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12. Clarke EB, Lord C, Bal VH. Relative strengths in daily living skills among autistic individuals and individuals with related developmental conditions who have co-occurring intellectual disability. J Child Psychol Psychiatry. 2026.
BACKGROUND: Strong daily living skills (DLS) are associated with positive outcomes. Prior studies have documented intellectual quotient (IQ)-DLS discrepancies in autistic individuals with average or higher cognitive abilities. Little work in this area includes individuals with co-occurring intellectual disability (ID) or examines IQ-DLS discrepancies at the level of DLS subdomains (i.e., Personal, Domestic, and Community skills). This study examined trajectories of IQ-DLS discrepancies from ages 2-25 in autistic individuals with ID. METHODS: A total of 127 individuals from a well-characterized longitudinal cohort with verbal IQ < 70 at age 9 were included. IQ-DLS discrepancy scores were calculated by subtracting DLS AEs from nonverbal mental age (NVMA) estimates. Group-based trajectory modeling identified IQ-DLS discrepancy trajectory groups for the DLS domain and Personal, Domestic, and Community subdomains. One-way ANOVA and chi-square analyses were used to compare trajectory groups on demographic and phenotypic characteristics. RESULTS: Two DLS domain discrepancy trajectory groups emerged: IQ > DLS (cognitive abilities exceeded DLS) and IQ < DLS (DLS exceeded cognitive abilities); most participants (78%) were in the IQ > DLS group. An additional group, IQ = DLS (cognitive abilities and DLS were commensurate), emerged in each of the DLS subdomains, for a total of three trajectory groups. Within DLS subdomains, approximately 80% of participants were in either the IQ = DLS or the IQ < DLS trajectory group. In other words, examining scores at the DLS domain-level indicated most participants had cognitive abilities that exceeded DLS, but subdomain scores indicated most participants had DLS that equaled or exceeded cognitive abilities. CONCLUSIONS: These results challenge the notion that autism is usually associated with weaknesses in DLS compared to IQ. At the subdomain level, 80% of participants had DLS commensurate with or stronger than their cognitive abilities, indicating domain-level scores may obscure important variability in daily functioning. This work highlights the importance of including autistic individuals with ID in research; patterns observed in samples without ID may not be generalizable.
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13. Consoli C, Turriziani L, Antoci M, Lo Monaco M, Ceraolo G, Spoto G, Nicotera AG, Di Rosa G. Sensory Phenotypes in Autism Spectrum Disorder Associated with Distinct Patterns of Social Communication, Repetitive and Restrictive Behaviors or Interests, and Comorbidities: A State-of-the-Art Review. Brain Sci. 2025; 16(1).
Sensory processing differences, reported in up to 97% of individuals with autism spectrum disorder (ASD), are increasingly recognized as a defining feature of the condition, shaping perception, cognition, and adaptive behavior. Atypical sensory responsivity, ranging from hyper- to hypo-reactivity and sensory seeking, emerges early in development and contributes to the clinical and neurobiological heterogeneity of autism. Alterations in neural connectivity, the balance of excitation and inhibition, and multisensory integration are thought to underlie these sensory profiles, influencing emotional regulation, attention, and social interaction. Sensory features also interact with co-occurring conditions such as anxiety, attention deficit hyperactivity disorder, and sleep and feeding difficulties, thereby shaping developmental trajectories and influencing adaptive behavior. Clinically, these sensory dysfunctions have a significant impact on daily participation and quality of life, extending their effects to family functioning. Understanding individual sensory phenotypes is therefore essential for accurate assessment and personalized intervention. Current therapeutic approaches include Sensory Integration Therapy, Sensory-Based Interventions, Sequential Oral Sensory Approach, and structured physical activity programs, often complemented by behavioral and mindfulness-based techniques. Emerging neuroplasticity-oriented methods for targeted modulation of sensory processing networks include neurofeedback and non-invasive brain stimulation. Overall, current evidence highlights the central role of sensory processing in ASD and underscores the need for multidisciplinary, individualized approaches to optimize developmental trajectories and enhance adaptive functioning. This review provides an updated synthesis of sensory processing in ASD, integrating neurobiological, developmental, and clinical evidence to highlight established knowledge, unresolved questions, and priorities for future research.
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14. De Giacomo A, Lionetti N, Di Lago MG, Simonetti S, Iapadre G, Rizzello A, Sanginario V, Gradia F, Tansella D, Vitullo E, Simone M, Sardella D, Lorè T, Cardinali R, Russo S, Salpietro V, Scacco S, Delvecchio M, Gnoni A. Selective Plasmatic Amino Acid Alterations as a Potential Biomarker for Pathological Stratification in Autism Spectrum Disorders. Biomedicines. 2026; 14(1).
Background: Autism Spectrum Disorders (ASD) are neurodevelopmental disorders characterized by repetitive behaviors and social interaction deficits. While the severity of ASD is classified into levels (1-3) by the DSM-5, reliable circulating biomarkers to differentiate these levels are lacking. This retrospective pilot study examines plasma amino acid levels in children with ASD to identify the potential biomarkers of disease severity. Methods: Plasma samples from 30 children diagnosed with ASD (24 males, 6 females, aged 3-12 years) were analyzed. Participants were stratified into two groups based on the Autism Diagnostic Observation Schedule Calibrated Severity Score (ADOS CSS): Group 1, presenting with mild symptoms (Level 1, n = 11), and Group 2, characterized by moderate-to-severe symptoms (Levels 2-3, n = 19). This was further confirmed by the identification of electroencephalogram (EEG) anomalies (21.1%) and magnetic resonance imaging (MRI) abnormalities (5.3%), which were detected exclusively in Group 2 and absent in Group 1. Amino acid levels were measured by ion-exchange chromatography. Statistical analyses (Mann-Whitney U test and chi-square test) were used to compare AA levels between groups. Results: Statistically significant differences were observed in the levels of phosphoethanolamine, aspartic acid, and glutamic acid between the two groups. These amino acids (AA) were significantly higher in the moderate-to-severe symptoms group (Levels 2-3) compared to the mild symptoms group (Level 1) (p < 0.05). All AA values remained within age-appropriate reference ranges. Conclusions: Plasma levels of phosphoethanolamine, aspartic acid, and glutamic acid may serve as potential biomarkers for ASD severity in children. Results from this exploratory analysis suggest that AA profiling could differentiate ASD severity and identify specific metabolic pathways, such as excitatory neurotransmission and phospholipid turnover. Further studies with larger cohorts are necessary to validate these findings and explore the role of AAs in ASD pathophysiology.
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15. Dimitrov P, Petrova A, Bell V, Fernandes T. Characterization of Children with Intellectual Disabilities and Relevance of Mushroom Hericium Biomass Supplement to Neurocognitive Behavior. Nutrients. 2026; 18(2).
Background: The interplay between neuronutrition, physical activity, and mental health for enhancing brain resilience to stress and overall human health is widely recognized. The use of brain mapping via quantitative-EEG (qEEG) comparative analysis enables researchers to identify deviations or abnormalities and track the changes in neurological patterns when a targeted drug or specific nutrition is administered over time. High-functioning mild-to-borderline intellectual disorders (MBID) and autism spectrum disorder (ASD) constitute leading global public health challenges due to their high prevalence, chronicity, and profound cognitive and functional impact. Objective: The objectives of the present study were twofold: first, to characterize an extremely vulnerable group of children with functioning autism symptoms, disclosing their overall pattern of cognitive abilities and areas of difficulty, and second, to investigate the relevance of the effects of a mushroom (Hericium erinaceus) biomass dietary supplement on improvement on neurocognitive behavior. Methods: This study used qEEG to compare raw data with a normative database to track the changes in neurological brain patterns in 147 children with high-functioning autistic attributes when mushroom H. erinaceus biomass supplement was consumed over 6 and 12 months. Conclusions:H. erinaceus biomass in children with pervasive developmental disorders significantly improved the maturation of the CNS after 6 to 12 months of oral use, decreased the dominant slow-wave activity, and converted slow-wave activity to optimal beta1 frequency. Therefore, despite the lack of randomization, blinding, and risk of bias, due to a limited number of observations, it may be concluded that the H. erinaceus biomass may generate a complex effect on the deficits of the autism spectrum when applied to high-functioning MBID children, representing a safe and effective adjunctive strategy for supporting neurodevelopment in children.
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16. Edgar TC, Schabes C, Elmquist M, Kornelis M, Finestack L, Sterling A. Characterizing Autism Traits in Toddlers with Down Syndrome: Preliminary Associations with Language, Executive Functioning, and Other Developmental Domains. Behav Sci (Basel). 2025; 16(1).
Children with Down syndrome (DS) show considerable variability in social-communication and cognitive profiles, and a subset meet criteria for co-occurring autism. In the present study, we examined the associations between developmental domains and autistic trait severity in toddlers with DS. Participants included 38 toddlers (M = 4.19 years, SD = 0.99) who completed a home-based assessment, including measures of language, fine motor, and visual reception skills. Caregivers also completed standardized questionnaires on communication and executive functioning. Multiple regression analyses tested the degree of association between these developmental domains and autistic traits. Fewer words produced fewer gestures, and more impaired fine motor and visual reception scores were significantly associated with higher autism trait severity, whereas executive function domains were not significantly associated. Preliminary findings indicate that variability in language and nonverbal developmental skills contributes to the expression of autism traits in DS, underscoring the need for early, multidomain assessment approaches to support accurate identification and tailored intervention.
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17. Esin İ S, Demirdöğen EY, Akıncı MA, Turan B, Ürük GTK, Ucuz İ, Dursun OB. Long-Term Outcomes of Early Autism Spectrum Disorder Screening: Prevalence and Diagnostic Stability in a Decade-Long Cohort from Türkiye. Brain Sci. 2025; 16(1).
OBJECTIVE: This study aimed to provide a reliable estimate of early childhood autism spectrum disorder (ASD) prevalence in Türkiye and to examine diagnostic stability and developmental trajectories through a ten-year longitudinal follow-up incorporating systematic early screening, structured parent-child observations, and repeated diagnostic assessments. METHODS: A total of 1981 children aged 18-48 months were screened using the M-CHAT-R/F. Children who screened positive underwent an initial clinical assessment, including a family interview and structured parent-child observation. Those identified as at risk were referred for DSM-5-TR-based diagnostic evaluation by expert clinicians. Children diagnosed with ASD or classified as at risk were enrolled in a structured ten-year follow-up program. RESULTS: Of the 1981 screened children, 27 (1.4%) were identified as at risk. Nine children (33.3% of at-risk; 0.45% of the total sample) received an ASD diagnosis following comprehensive evaluation. All retained their diagnosis during the 18-month follow-up. By the tenth year, two additional children from the at-risk group were diagnosed, bringing the total number of ASD cases to 11. CONCLUSIONS: These findings demonstrate that structured, multi-stage screening and diagnostic procedures are feasible and effective for early ASD identification in Türkiye. High diagnostic stability supports the reliability of early clinician-led assessments, while later-emerging cases highlight the importance of long-term monitoring of at-risk children.
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18. Ferreira FR, Rouvier GA, Hassib L, de Andrade Morraye R, da Silva YSP, da Gama LFS, Pereira IS, Oliveira Gomes A, Rosa MJG, de Morais-Scussel AC, de Molfetta GA, Silva WA, Jr. Prebiotic Treatment During Pregnancy Prevents Social Deficits Associated with Autism Spectrum Disorder-like Behavior Induced by Maternal Immune Activation. Microorganisms. 2025; 14(1).
Maternal exposure to infectious agents has been associated with an increased risk of mental disorders in offspring, such as autism spectrum disorder. Evidence suggests that maternal immune responses during infection can significantly impact the neurodevelopment of the offspring, potentially affecting central nervous system functions in the future. Inulin is an indigestible soluble fiber that acts as a prebiotic. It promotes the production of short-chain fatty acids, such as butyrate, which can help inhibit the production of pro-inflammatory cytokines. Thus, this study aims to investigate whether inulin treatment during pregnancy can mitigate or reduce the impact of maternal immune activation (MIA) on the neurodevelopment of the offspring. Swiss mice were used in a dose-response study to evaluate the protective effects of inulin against maternal exposure to soluble Toxoplasma gondii antigen. Adult offspring of both sexes underwent behavioral assessments, and their gut microbiota was characterized. Both males and females in the soluble T. gondii antigen (STAg) group exhibited reduced sociability, as evidenced by the three-chamber social interaction test. Moreover, co-treatment with inulin mitigated this effect. Additionally, anhedonia was observed only in female offspring from the MIA group, but treatment with 1% and 3% inulin also mitigated this effect. The analysis of fecal microbiota showed significant differences between the STAg and inulin treatments at both the family and genus levels. Therefore, inulin appears to have a potential protective effect on the neurodevelopment of the offspring exposed to maternal antigenic challenges during pregnancy mediated by offspring microbiome modulations.
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19. Galán Vera IZ, Lievore R, Mammarella IC. Autistic traits and social anxiety in children and adolescents: the mediating role of theory of mind and social adaptive behavior. Pediatr Res. 2026.
BACKGROUND: Autistic traits refer to cognitive and behavioral characteristics seen in the general population that resemble those of autism but are less severe. Higher levels of autistic traits may be related to higher levels of social anxiety, and some variables may influence the relationship between autistic traits and social anxiety. In the present study we aimed to investigate the association between autistic traits and social anxiety, considering the possible influence of theory of mind and social adaptive behavior. METHODS: The study involved 300 Italian parents of children and adolescents between 6 and 18 years old without any diagnosed medical or neurodevelopmental condition. Parents were asked to answer an online survey composed by different questionnaires on their children’s traits and abilities. RESULTS: Our results suggest that autistic traits have a positive correlation with social anxiety and that theory of mind may act as a mediator in that relationship. CONCLUSION: We discussed as clinical and educational practice should prioritize training in perspective-taking skills to help preventing negative outcomes in children and adolescents. IMPACT: Autistic traits and social anxiety seem to be associated in non-clinical population. Theory of mind may mediate the association between autistic traits and social anxiety. Educational interventions should focus on enhancing skills such as theory of mind.
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20. Gindi S, Nagar-Shimoni H, Zilbershot Fink E, Fares A, Oppenheim N, Leitner Y. Diagnosing ASD in Children Aged 6-18: Gender Differences and the Diagnostic Process. J Clin Med. 2026; 15(2).
Background/Objectives: Diagnosing ASD becomes more difficult with age, especially in girls. This study explores developmental factors and diagnostic tools that affect ASD diagnoses after age six. The study also integrates the neurodiversity paradigm to evaluate how diagnostic tools like the ADOS-2 and Social Attribution Test (SAT) capture the heterogeneous presentation of ASD across genders. Methods: This retrospective study analyzed data from 91 children (73 boys, 18 girls) assessed for ASD between ages 6-18. Multivariate Generalized Linear Models (GLMs) were employed to identify independent predictors of diagnosis, controlling for age, gender, and language difficulties. Results: Notable gender differences emerged: boys showed more atypical development and restricted interests, while girls showed higher sensory sensitivity. Multivariate analysis confirmed that Social Affect (SA), age of initial concern, and the absence of structural language difficulties significantly impacted diagnosis likelihood. Conclusions: This study emphasizes the need for gender-sensitive criteria and implicit measures like the SAT to identify « masking » phenotypes. It emphasizes current tool limitations, the risk of diagnostic overshadowing, and the importance of longitudinal studies with comprehensive assessments to better capture ASD diversity, especially in social and language skills.
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21. Guo YS, Wang Y, Zhu MN, Che C, Yu XX, Cai ZF, Leng J, Chen KP, Cao AH. Exploring the potential association between dietary factors and autism spectrum disorder: a Mendelian randomization analysis and retrospective study. Front Nutr. 2025; 12: 1716044.
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition involving complex genetic and environmental interactions. This study aimed to investigate the causal relationships between dietary factors, ketones, food allergy, and the risk of ASD using Mendelian randomization (MR) and clinical research. METHODS: We used two-sample MR to analyze the causal associations between 199 dietary factors, ketones, food allergy, and ASD risk using genome-wide association study (GWAS) data. Validity was assessed using sensitivity analyses. Additionally, a retrospective study (n = 78, age range 2-7 years) evaluated the clinical effects of a gluten-free casein-free (GFCF) diet on ASD symptoms, as measured by the Childhood Autism Rating Scale (CARS) and the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2). RESULTS: MR analysis identified significant positive causal effects on ASD risk for wholemeal pasta (OR: 16.0, 95% CI 2.86-89.4, p = 0.002) and cheese spread (OR: 9.53, 95% CI 1.64-55.4, p = 0.020). It is crucial to emphasize that these estimates represent the lifetime effect of a genetic predisposition to a higher intake level, not the risk from short-term consumption. The very wide confidence intervals indicate substantial uncertainty in the point estimates. Banana had a protective effect (OR: 0.50, 95% CI: 0.30-0.83, p = 0.008). No causal links were identified for the other factors. Mediation analysis suggested that cheese spread intake increased ASD risk partly by lowering HLA-DR + T cell CD45 levels (10.2% mediation) and increasing anti-Epstein-Barr virus IgG seropositivity (12.9% mediation). Clinically, Although the GFCF diet did not significantly improve ADOS-2 and CARS scores, it showed greater improvement compared to the normal diet group. This diet significantly reduced milk- and wheat-specific IgG levels, indicating its ability to effectively modulate immune responses. CONCLUSION: This study provides genetic evidence of causal relationships between specific dietary factors and ASD risk. Clinical data indicate that adhering to a gluten-free, casein-free diet and avoiding related allergenic foods can effectively modulate food-specific immune responses and may also improve ASD symptoms. These findings contribute to deepening our understanding of ASD etiology and optimizing nutritional treatment protocols.
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22. Hatahet M, Sárváry A. Arabic Mothers’ Experiences Using Complementary and Alternative Medicine for Children with Autism Spectrum Disorder: A Qualitative Study. Children (Basel). 2026; 13(1).
Background/Objectives: Autism Spectrum Disorder (ASD) is a lifelong neurodevelopmental disorder characterized by social, communication, and behavioral challenges. complementary and alternative medicine (CAM) is widely used by parents worldwide, yet research exploring parents’ experiences, particularly in Arab countries, is limited. This study explored mothers’ perceptions and experiences of CAM use for children with ASD, information-seeking behaviors and challenges encountered. Methods: A qualitative study using semi-structured interviews was conducted among twenty mothers at Autism Academy of Jordan in 2024. Inclusion criteria were mothers with children diagnosed with ASD for at least six months and those who had used at least one CAM therapy. Interviews were conducted via Skype, transcribed verbatim, and analyzed using NVivo 12 with inductive thematic analysis. Results: Three major themes emerged in this qualitative study: (1) mothers’ experiences with CAM and perceptions of benefit; (2) sources of information and decision-making processes; and (3) main challenges in selecting and implementing CAM. Mothers reported using therapies such as honey, black seed, camel milk, Hujama, olive oil, supplements, and region-specific programs like Andalosiah. Faith, cultural beliefs, and the desire for natural, safe interventions strongly influenced CAM selection. Internet searches and social media groups were primary information sources. Challenges included financial, logistical, emotional burdens, and lack of trustworthy, Arabic-language information sources. Conclusions: Mothers in Arab countries navigate CAM use for their children with ASD through culturally and religiously informed practices. Interventions should focus on developing evidence-based guidance, culturally sensitive counseling, and accessible information to support families in safe, informed CAM use.
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23. Hayrapetyan A, Khachikyan N, Aslanyan A, Mkrtchyan A, Qotanyan A, Mkhitaryan M, Sakanyan G, Avetisyan T, Mkrtchyan S, Avetisyan L, Yenkoyan K. Mapping Autism in Armenia Among Children and Adolescents Aged 0-18 Years: Population-Based Insights into Prevalence and Its Geographical Differences. Children (Basel). 2025; 13(1).
Background/Objectives: This study aimed to estimate the prevalence of autism spectrum disorder (ASD) among children and adolescents aged 0-18 years in the Republic of Armenia (RA), characterize geographic and sex-specific variations, and determine the mean age at diagnosis. These data are essential for informing health system planning, evaluating potential disparities in access to diagnostic services, and generating hypotheses regarding the biological and healthcare-related factors underlying geographic variation in ASD prevalence. Methods: A cross-sectional study was conducted using administrative records from outpatient medical facilities serving children and adolescents across all ten marzes of RA and the city of Yerevan in 2021. ASD prevalence was estimated at the national and regional levels and stratified by urban and rural residence. The male-to-female prevalence ratio and the mean age at ASD diagnosis were also calculated. Results: The overall prevalence of ASD in RA was 2.3 per 1000 children (95% CI: 2.1-2.4). The highest prevalence was observed in Yerevan (3.7 per 1000). The mean age at diagnosis was 4.5 ± 2.5 years. Males exhibited a 5.1-fold higher prevalence compared to females. ASD prevalence was significantly higher in urban areas than in rural settings. Conclusions: ASD prevalence in RA demonstrates marked geographic and sex disparities, with significantly higher rates in urban regions and among males. These findings underscore the importance of continued ASD prevalence monitoring in RA to identify trends, explore potential biological and healthcare-related contributors to geographic variation, and improve healthcare system planning and management. In turn, improved understanding of regional differences in ASD prevalence may help inform more targeted and personalized approaches to care. The results may also support national and regional policymakers in health, education, and related sectors in developing and strengthening services for children and adolescents with ASD and their families.
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24. Hu J, Zhao C, Fang Y, Zhang H, Liao J. Investigation of risk factors for autism spectrum disorder in children with tuberous sclerosis complex. BMC Psychiatry. 2026.
OBJECTIVE: Tuberous sclerosis complex (TSC) is a rare disease, and children with TSC are at certain risk for autism spectrum disorder (ASD). This study aims to recognize risk factors for TSC children with ASD by analyzing the clinical characteristics. METHODS: 171 TSC patients were retrospectively recruited, including 62 patients with ASD, and 109 without. All patients met the diagnostic criteria of TSC recommended in the International TSC Consortium in 2018. The diagnosis of ASD was based on the Diagnostic and Statistical Manual 5th Edition (DSM-5) and the Autism Diagnostic Scale (ADOS). RESULTS: There was no difference in age at diagnosis, number of unpigmented macules, seizure-free rate, effective rate of drug treatment, concordance of cranial MRI lesion and localization of electroencephalography (EEG) epileptiform discharges between TSC children with ASD and without ASD (p > 0.05). The region of the cranial MRI lesion and cardiac hamartoma might be risk factors of ASD in TSC patients(p = 0.04,p = 0. 013). CONCLUSIONS: Children with TSC exhibiting frontal lobe lesions or cardiac hamartomas are at a higher risk of developing ASD. CLINICAL TRIAL NUMBER: Not applicable.
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25. Izuchi C, Onwuameze CN, Akuta G. Social Determinants of Neurodevelopmental Disorders: Associations with ADHD and ASD Among U.S. Children. Children (Basel). 2025; 13(1).
Background: Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are prevalent neurodevelopmental conditions in childhood. Beyond biological factors, social and environmental conditions influence developmental experiences and pathways to diagnosis. Nationally representative studies examining multiple social determinants in relation to ADHD, ASD, and comorbidity across recent years remain limited. Methods: We analyzed pooled cross-sectional data from six cycles (2018-2023) of the U.S. National Survey of Children’s Health, including 205,480 children aged 3-17 years. Parent-reported, clinician-diagnosed current ADHD and ASD were the primary outcomes; comorbid ADHD and ASD were examined secondarily. Social determinants included household income relative to the federal poverty level, parental education, health insurance type, food insecurity, and caregiver-reported neighborhood safety. Survey-weighted prevalence estimates and logistic regression models accounted for the complex sampling design and adjusted for demographic, family, regional, and temporal factors. Results: The weighted prevalence of ADHD was 9.7% and ASD was 2.9%; 1.1% of children had comorbid ADHD and ASD. Lower household income, food insecurity, unsafe neighborhood conditions, and lower parental education were associated with higher adjusted odds of both conditions. Boys had substantially higher odds of ADHD and ASD. After adjustment, non-Hispanic Black and Hispanic children had lower odds of ASD than non-Hispanic White children, consistent with differential identification rather than lower underlying prevalence. Comorbidity was concentrated among socially disadvantaged children. Conclusions: ADHD and ASD are socially patterned across U.S. children. Integrating developmental screening with assessment of social risks may support more equitable identification and intervention.
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26. Kang J, Zhang X, Xiao Z, Fan Z, Li X, Zhou T, Chen H. Alterations in Multidimensional Functional Connectivity Architecture in Preschool Children with Autism Spectrum Disorder. Brain Sci. 2026; 16(1).
Background: Autism Spectrum Disorder (ASD) is a type of neurodevelopmental disorder, and its exact causes are currently unknown. Neuroimaging research suggests that its clinical features are closely linked to alterations in brain functional network connectivity, yet the specific patterns and mechanisms underlying these abnormalities require further clarification. Methods: We recruited 36 children with ASD and 36 age- and sex-matched typically developing (TD) controls. Resting-state EEG data were used to construct static and dynamic low- and high-order functional networks across four frequency bands (δ, θ, α, β). Graph-theoretical metrics (clustering coefficient, characteristic path length, global efficiency, local efficiency) and state entropy were applied to characterize network topology and dynamic transitions between integration and segregation. Additionally, between-frequency networks were built for six band pairs (δ-θ, δ-α, δ-β, θ-α, θ-β, α-β), and network global measures quantified cross-frequency interactions. Results: Low-order networks in ASD showed increased δ and β connectivity but decreased θ and α connectivity. High-order networks demonstrated increased δ connectivity, reduced α connectivity, and mixed alterations in θ and β. Graph-theoretical analysis revealed pronounced α-band topological disruptions in ASD, reflected by a lower clustering coefficient and efficiency and higher characteristic path length in both low- and high-order networks. Dynamic analysis showed no significant entropy changes in low-order networks, while high-order networks exhibited time- and frequency-specific abnormalities, particularly in δ and α (0.5 s window) and δ (6 s window). Between-frequency analysis showed enhanced β-related coupling in low-order networks but widespread reductions across all band pairs in high-order networks. Conclusions: Young children with ASD exhibit coexisting hypo- and hyper-connectivity, disrupted network topology, and abnormal temporal dynamics. Integrating hierarchical, dynamic, and cross-frequency analyses offers new insights into ASD neurophysiology and potential biomarkers.
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27. Konke LA, Falck-Ytter T, Shragge I, Bölte S, Brocki K. Ability to Defer Gratification Attenuates the Negative Association Between Autistic Symptoms and Adaptive Functions in Young Children at Elevated Likelihood of Autism. J Autism Dev Disord. 2026.
PURPOSE: The aim of the study is to examine (i) if young children with a family history of autism and/or ADHD differ on executive functions and deferred gratification in comparison to peers with no family history of autism or ADHD, (ii) the specificity of these domains in relation to early-life autistic and ADHD symptoms and adaptive functioning, and (iii) if deferred gratification and strong EF skills may function as protective factors in the association between symptoms and adaptive behaviour. METHODS: A total of 77 infant siblings at 3 years of age with a family history of autism only, autism and co-occurring ADHD, or no family history of these conditions (FH-TL) were assessed on behavioural lab-tasks (EF and deferred gratification), parent-rated adaptive behaviour using Vineland, and clinician ratings using ADOS-2 (autistic symptoms) and ADHD DSM-5 symptom rating scale (ADHD RS). RESULTS: Group comparisons showed that FH-autism and FH-autism + ADHD groups received lower scores on common EF, but not on deferred gratification in comparison to the FH-TL group. Lower levels of deferred gratification related to autistic symptoms, while lower level on EF was specific to ADHD symptoms. Finally, deferred gratification moderated the association between autistic symptoms and adaptive behaviour, in that stronger ability to defer gratification attenuated the association between autistic symptoms and adaptive functions. CONCLUSIONS: These results are in line with the idea that strong ability to inhibit and defer gratification may act as a protective factor for children with a family history of autism and/or ADHD pointing to affective aspects of EF as particularly important.
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28. Kozonis A, Papadoliopoulou M, Margaris I. Fetal Growth Restriction, Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder-Connecting the Dots: A Narrative Review. Children (Basel). 2025; 13(1).
BACKGROUND/OBJECTIVES: Fetal growth restriction (FGR), formerly known as intrauterine growth retardation (IUGR), is defined as a fetus’ failure to reach its genetically predetermined growth potential. FGR has also been implicated in the development of autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD), though strong supporting literature has yet to be published. This study aims to review the existing associations between FGR and autism spectrum disorder or attention-deficit hyperactivity disorder as studied in relevant literature, as well as the mechanisms that provide explanation of that association. METHODS: We used a combination of the terms ‘Autism spectrum disorder’ OR ‘Attention deficit hyperactivity disorder’ OR ‘neurodevelopmental disorders’ AND ‘intrauterine growth retardation (IUGR)’ OR ‘fetal growth restriction (FGR)’ in an electronic search of PubMed/MEDLINE and Scopus databases. RESULTS: After evaluating the existing literature, we found only a few studies assessed the risk of developing ASD or ADHD in IUGR/FGR children. Neurodevelopmental disorders have generally been linked to very low birth weight, small for gestational age neonates (SGA), prematurity, somatic mutations, and intrauterine caffeine and alcohol exposure. While available evidence supports the notion that IUGR/FGR is related to cognitive impairment and behavioural disorders, the association with ASD or ADHD remains elusive due to the marked variability in the reported outcomes. Few studies have reported a respective higher risk for autism spectrum disorders, yet most of them have failed to identify a statistically significant correlation. CONCLUSIONS: While autism spectrum disorders and attention deficiency disorder have been generally associated with FGR children, the existing body of literature offers limited evidence to support this theory.
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29. Levante A, Fabio RA, Martis C, Suriano R, Romeo V, Lecciso F. A Descriptive Study on the Association Between the Sensory Profile and the Autistic Quotient in Italian 3-12-Year-Old Preschoolers and Schoolers with Autism. Behav Sci (Basel). 2026; 16(1).
Sensory reactivity has recently been introduced as a diagnostic criterion for autism, and growing attention is being paid to considering children’s behavioural responses to sensory stimuli. This study explored sensory reactivity in a sample of preschool- and school-aged autistic children. Parents of 68 participants [21 preschoolers (3-5 years) and 47 school-aged children (6-11 years)] completed an e-survey (Ethical Committee: 2024-412). Two research questions were addressed to explore: a. whether sensory reactivity dimensions differ according to autistic-like trait severity (medium vs. high) and b. whether sensory reactivity differs between preschool- and school-aged children. Controlling for age and sex, the results showed that children with higher autistic-like trait severity exhibited greater sensory reactivity across all dimensions. The interaction also supported higher sensory reactivity in each dimension for children with higher severity levels. In addition, no significant difference and interaction emerged between age group and sensory reactivity, supporting the potential stability of these features over time. However, group comparisons indicated that school-aged children showed higher parental-reported movement sensitivity, particularly during rough play or balance-related activities. These findings highlight the importance of considering sensory reactivity in autism diagnosis and in designing supportive and tailored intervention environments.
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30. Liu H, Xu C, Xiao Y, Tian L, Li Y, Zhang X, Gao L. Unveiling heterogeneous gaze patterns in autistic children undergoing rTMS: insights from latent profile analysis. Front Psychiatry. 2025; 16: 1665031.
AIM: Repetitive Transcranial Magnetic Stimulation (rTMS) is a promising intervention for Autism Spectrum Disorder (ASD), but objective markers for rTMS tolerance remain lacking. This case-control study explored gaze behavior variability toward emotional faces in ASD children undergoing rTMS, focusing on identifying subgroups associated with rTMS intolerance. METHOD: Eye-tracking data (Tobii technology, preferential-looking paradigm) were collected from 104 ASD children (48 intolerant, 56 tolerant) receiving DLPFC-targeted rTMS (left high-frequency, right low-frequency). Latent Profile Analysis (LPA) identified fixation subgroups across eight conditions. Demographic (sex, age), clinical (CARS scores) differences, and profile-tolerance associations were analyzed. RESULTS: LPA revealed three gaze profiles: moderate non-preferential fixation (80.76%), low diverse fixation (9.62%), and increased fixation with mild variability (9.62%). Sex and CARS scores differed across profiles (age did not). Intolerance rates were 38.1%, 60.0%, and 100%, with profiles predicting rTMS intolerance (OR = 0.210, 95% CI: 0.079-0.557). CONCLUSION: ASD children exhibit heterogeneous emotional face gaze patterns. Findings highlight the need for personalized rTMS interventions, especially for those with higher CARS scores and increased emotional face fixation-at elevated intolerance risk.
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31. Lotan M, Ben David N, Bibas M. Assessing the Feasibility of the Hybrid Ecological Therapeutic Intervention (HEI) for Preschoolers with ASD. Children (Basel). 2026; 13(1).
Background: Autism Spectrum Disorder (ASD) necessitates enhanced therapeutic support, especially in rural areas. Individual therapeutic sessions are costly, presenting an economic burden on the family of the child with ASD, as well as on healthcare and educational systems. Therefore, the current investigation aimed to assess the feasibility of a new hybrid therapeutic model involving a combination of remote and in situ interventions, ecologically implemented. Methods: The following outcome measures were used to assess the program’s feasibility and preliminary outcomes. The Preschool Language Scales 5th Edition (PLS-5), the Test of Playfulness 4th edition (TOP-4), and individually tailored goals evaluated using the Goal Attainment Scale (GAS) and the Autism Spectrum Rating Scale (ASRS). The evaluated children with ASD (N = 25), age range of 39-76 months (Mean: 53.1 ± 11.9), were treated with the novel Hybrid Ecological Intervention (HEI) method, where each child received bimonthly frontal therapeutic sessions and bi-weekly remote therapeutic sessions by a health care professional (OT or ST), supported by four weekly frontal sessions by a technological support person supervised by healthcare professionals. Results: All qualitative scales presented were associated with improvements in all evaluated areas. Qualitative data mostly supported the HEI and ways to overcome existing challenges, supporting the use of both evaluation methods. Conclusions: The use of quantitative and qualitative data was found to be efficient and complementary to one another. The scales used (ASRS, GAS) were found to be useful tools for this method and for these participants. The HEI model was found to be associated with improvement in play, communication, social abilities, as well as autism severity.
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32. Lotan M, Weiss M. Balance and Coordination Improvements in Children and Adolescents with Autism Spectrum Disorder (ASD), Resulting from a Hydrotherapy Intervention. Children (Basel). 2026; 13(1).
BACKGROUND/OBJECTIVE: Despite the fact that almost 87% of children with Autism Spectrum Disorder (ASD) have physical coordination issues, motor skills are not the primary concern when ASD is diagnosed. An aquatic environment can provide multisensory stimuli that might assist these children; however, studies related to hydrotherapy with children with ASD have not yet examined whether this environment has an effect on balance and coordination. METHODS: A control vs. research group examined the effect of a weekly, three-month hydrotherapy program on the balance and coordination abilities of male children and adolescents diagnosed with high-functioning ASD. Children (N = 22) between the ages of 6 and 17 years (mean: 8.4 ± 2.4), participated in this study. Each participant’s coordination and balance abilities were evaluated using the Movement Assessment Battery for Children-Second Edition (M-ABC-II). The initial evaluation (test one) was repeated (test two) after two months to establish improvement prior to intervention. The final evaluation (test three) was conducted at intervention termination. Individual functional goals were set for each patient using the Goal Attainment Scale (GAS). RESULTS: No improvement was noted within the pre-intervention period (between tests one and two), yet there was a statistically significant improvement in the M-ABC-II Total Test score (p = 0.0133), in Manual Dexterity (p = 0.0181), and balance (p = 0.0053) post-intervention, between tests two and three. The mean GAS score for this study was 52.1, suggesting the achievement of prespecified functional goals. CONCLUSIONS: This study demonstrated a positive impact of a 12-week hydrotherapy program on balance and coordination and manual dexterity among children with ASD. A positive impact was also noted in patients’ individual functional abilities.
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33. Lukito S, Li L, Chandler S, Kakoulidou M, Pavlopoulou G, Matejko M, Jackson I, Balwani B, Boyens T, Poulton D, Harvey-Nguyen L, Johnson A, Stahl D, Roberts A, Sonuga-Barke EJS. Comparing qualitative thematic analysis and machine-based topic modelling in the analysis of autistic and ADHD young people’s accounts of emotions. Sci Rep. 2026.
Systematic analysis of interview data can provide important insights into how young people experience and interpret their emotions. Both human-led qualitative (e.g., thematic analysis) and machine-driven quantitative (e.g., natural language processing [NLP]) analytical approaches are available, but their solutions are rarely compared. Interview responses by 57 neurodivergent adolescents to questions about their emotions, previously analysed using reflexive thematic analysis (RTA), were submitted to Topic Modelling (TM). Topic labels were developed in collaboration with neurodivergent co-researchers to ground their meaning in the lived experience of neurodivergent communities. Topics were mapped to RTA themes or subthemes to examine their proximities. Topic-based cluster analysis was used to identify participant groupings with similar topic distributions. TM revealed 10 interpretable and meaningful emotion-related topics – some closely overlapping with and others differing from the RTA themes. TM topics differentiated the young people’s emotional experiences at school from those in other settings. TM and RTA resulted in overlapping and different insights into the meaning of neurodivergent young people’s accounts of their emotions. Our findings demonstrate the potential use of TM in interview analysis and might suggest a potential complementarity between the TM topics and RTA themes, to be further explored using more advanced algorithms and a more sophisticated NLP implementation.
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34. Mao R, Zhu Y. Use of Automation Technologies and Data Mining in Speech Recognition for Autism. Brain Behav. 2026; 16(2): e71229.
INTRODUCTION: Early identification of autism spectrum disorder (ASD) is critical for improving long-term outcomes, and speech offers a noninvasive source of clinically relevant biomarkers. However, manual speech analysis is time-consuming and difficult to scale. With advances in digital recording, signal processing, and artificial intelligence, researchers have increasingly deployed automated tools and data-mining methods to characterize speech and language in ASD. METHODS: This structured narrative review summarizes methodological developments in speech-based ASD assessment from 1994 to 2025, spanning diverse tasks and recording settings and focusing on automated tools, data-mining methods, and their clinical translation. We first consider core automated toolchains, including LENA, Praat, HTK/FAVE, CMU Sphinx, Kaldi, AutoSALT, openSMILE/eGeMAPS, diarization systems, and foundation-model ASR systems (e.g., Whisper), as well as modern self-supervised encoders such as wav2vec 2.0 and TRILLsson. Their typical use cases, psychometric properties, and limitations are highlighted. We then chart the progression of data-mining and machine-learning approaches from early logistic regression and clustering, through regularized regression, SVMs, and tree ensembles, to CNN/LSTM sequence models and transformer-based text and speech models (e.g., BERT, LLMs). RESULTS: Across these stages, automated indices of prosody, voice quality, linguistic content, and interactional behavior show moderate-to-high accuracy for ASD detection and meaningful associations with clinician-rated severity. Nonetheless, various problems persist: performance often degrades across languages, ages, tasks, and recording settings; evaluation and reporting remain heterogeneous; datasets are typically small and single-site; and privacy, fairness, interpretability, and computational efficiency pose persistent barriers to deployment, highlighting the need for target-context benchmarking and pre-specified evaluation/reporting. CONCLUSION: We outline three priority strategies to guide future work toward scalable, clinically credible ASD speech assessment and longitudinal monitoring: optimize and integrate existing toolchains, enable global yet privacy-preserving data sharing, and leverage cross-domain innovations in enhancement, label efficiency, and explainable, edge-ready AI.
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35. McAbee GN, Morse AM. Symptomatic Vitamin and Nutrient Deficiencies of Autism Spectrum Disorder and the Potential for Treatment. J Child Neurol. 2026: 8830738251413826.
Autism spectrum disorder (ASD) is a heterogeneous neurobehavioral disorder. Children with ASD often have restrictive diets that can be due to food aversion, sensory sensitivities, ritualistic behavior, or comorbid gastrointestinal issues. Diet and nutritional status play a critical role in the health of neurodevelopment, and the microbiome, and can affect cognition, motor and sensory status, behavior, and sleep. Children with ASD are 5 times more likely to develop eating problems and secondary vitamin and nutritional deficiencies. Such dietary restriction has been causative of vitamin and nutritional deficiencies that can lead to permanent sequelae if not adequately identified and treated. Symptoms of these deficiencies can be subtle and misleading and, thus, underrecognized. This review discusses various symptomatic vitamin and nutrient deficiencies associated with dietary restrictions that can occur in children and adolescents with ASD of which clinicians need to be aware. With treatment, symptoms can be reversible. Without timely treatment, sequelae can be permanent.
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36. Mitu F, Haebig E. The Influence of Social Word Features on Early Word Learning in Autistic and Non-Autistic Children. Behav Sci (Basel). 2025; 16(1).
Early word learning is a critical milestone for children, yet autistic children often experience delays in language development. Social communication differences are a core feature of autism and may contribute to variability in learning experiences. Prior research has shown that word-level features such as iconicity, concreteness, and input frequency shape the timing of word learning, but less is known about the role of social word features. This study examined whether social word ratings predict when words tend to be acquired by autistic and non-autistic children. Social word ratings were examined as a predictor of word-level autistic and non-autistic acquisition normative data, while accounting for word input frequency. Regression analyses demonstrated that social ratings significantly predicted vocabulary acquisition, even after controlling for word frequency. Additional analyses demonstrated that socialness ratings continued to be a unique predictor of word acquisition when other affective features of words were included in the model (i.e., arousal and valence); this was also the case when iconicity and concreteness were included. Importantly, differences in group and interactions with social ratings and group were not statistically significant in any of the models. Lastly, the pattern of highly social words being acquired later in vocabulary development was strongest for nouns; the association was non-significant when examining verbs separately. Thus, in addition to previously studied word features like concreteness, imageability, and iconicity, social word features are predictive of vocabulary acquisition. These findings highlight an overlap in word features that influence learning in autistic and non-autistic children.
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37. Molloy CJ, Miles A, Christoff C, Cunningham J, Reilly J, Vorstman J, Austin J, Hawke LD, Gallagher L. Does genetic testing impact stigma in autism: A scoping review. J Community Genet. 2026; 17(1): 25.
Public stigma is a society’s negative attitude toward a person or groups of people, self-stigma relates to the internalisation of these negative attitudes, and affiliate stigma is experienced by those associated with a stigmatised group. Both autism and genetic testing results can be stigmatised. This scoping review explored relationships between genetic testing and stigma in autism, to understand any perceived positive or negative effects. Embase Classic, and APA PsycINFO via Ovid databases were searched on May 30th, 2023, and updated January 9th, 2025. Included articles related to experiences of or attitudes toward genetic testing or genetic counselling, and involved autistic people, people with autism-related genetic conditions, or their parents, and explored stigma and stigma-related factors. Twenty-five articles were included: three included autistic adults and twenty-two included parents of autistic people or those with autism-related genetic conditions. Stigma-related factors included both autistic people’s and parent concerns surrounding social and insurance discrimination, parental experiences of isolation and ignorance in relation to the healthcare system, and perceptions of labelling. Findings were mixed regarding self-blame, worry and stress among autistic adults. Some parents reported an increase in worry and stress relating to discrimination, while others reported relief related to genetic test results and enhanced biological understanding. This review highlights the lack of focus on perspectives of autistic adolescents and individuals with autism-related genetic conditions, regarding genetic testing impacts on stigma. Future research should address these gaps to inform more supportive clinical and societal practices. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12687-025-00854-8.
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38. Mudnal PS, Chuang E, Lindly OJ, Needleman J, Ganz DA, Kuo AA. The Role of Screentime and Family Resiliency in Overweight/Obesity in Children and Children with Developmental Disabilities Before and During COVID-19. Children (Basel). 2025; 13(1).
BACKGROUND/OBJECTIVES: This study examines factors associated with child overweight/obesity (OW/OB), pre-COVID-19 and during the COVID-19 pandemic, among all U.S. children aged 10-17 years, with or without developmental disabilities (DD) and, separately, among the subgroup of children diagnosed with a DD. METHODS: Using data from the National Survey of Children’s Health (NSCH, 2018-2021), we applied descriptive statistics and multivariate logistic regression analyses to estimate the odds ratios of associations between family resilience, screen time, and childhood overweight/obesity. Family resilience measures families’ communication and problem-solving behaviors. Screentime is time spent on TV, computer, cellphone or electronic devices. RESULTS: In descriptive analyses, during COVID-19, 35.8% of all children were identified as OW/OB compared to 32.8% pre-COVID-19-a weighted increase of 3.0%. Among children with developmental disabilities, OW/OB increased from 37.4% to 39.3%. Children reporting ≥4 h of screentime use increased from pre-COVID-19 to during COVID-19 in both groups (All Children: pre-COVID: 33.5%, during COVID: 41.6%; Developmental Disabilities: pre-COVID: 39.9%, during COVID: 49.4%). Among all children, there was a positive and strong association between screentime use and OW/OB at both pre- and during COVID-19 years. Children belonging to households with low family resiliency had 1.31 times the odds of being overweight/obese (95% CI, 1.06-1.63, p < 0.05) before the pandemic. However, these results were not significant after the pandemic. CONCLUSIONS: Prevalence of overweight/obesity in all children and children with DD during the COVID-19 pandemic continued to rise. Screentime was found to be a key determinant in increased weight status. Contrary to our hypothesis, family resilience failed to emerge as a significant protective factor for OW/OB; additional research is needed to explore the protective role of family resiliency on childhood obesity. Study findings may provide insights into developing best practices and tailored interventions with early OW/OB screening and programs tailored towards the youngest group of children aged 10-12 years or below.
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39. Pachner O, Soltész P, Gombos F, Gerván P. Unveiling Distinctive Eye Tracking Markers to Distinguish Toddlers with High-Risk Autism as Indicated by ADOS Within an Elevated-Likelihood Toddler Sample. Children (Basel). 2025; 13(1).
BACKGROUND: Eye tracking technology can be utilized to identify early markers of autism. Several neurodivergent features of social attention have been revealed by eye tracking studies in ASD toddlers. Our aim was to develop stimulus material that elicits highly distinctive gaze patterns in toddlers at low and high risk for autism as indicated by ADOS (i.e., scoring below and above the ADOS cut-off point). Additionally, we sought to identify the variables most effective in differentiating between these groups. METHODS: In our research, we analyzed the data of 74 toddlers between 12 and 30 months. Children were divided into two groups based on their ADOS scores: the lower ADOS (lrADOS) group included those scoring below the ADOS cut-off point (n = 42; mean age = 22.5 ± 5.0 months), while the higher ADOS (hrADOS) group comprised children scoring above the cut-off (n = 32; mean age = 23.3 ± 4.8 months). We recorded eye gaze data during the presentation of dynamic social attention stimuli with a self-developed eye tracking device. We used two types of social attention stimuli: joint attention (ostensive) and preferential looking paradigm. We analyzed the area of interest based on the gaze-time ratio. To ensure sufficient robustness, we selected gaze retention interval (GRI) variables characterized by broader spatial and temporal parameters compared to traditional fixation-based measures. RESULTS: As anticipated, we observed significant differences between the two groups across most variables. Typically, within the preferential paradigm, the distinct indicators of the social domain were higher on average in the lrADOS group compared to the hrADOS group, while the non-social domain exhibited the opposite trend. The results of correlations with ADOS scores indicated that the social ratio in the preferential paradigm exhibited the strongest negative correlation. Notably, there were higher effect sizes within the hrADOS group in comparison to the lrADOS group when correlation with ADOS scores was tested separately for each group. CONCLUSIONS: We developed stimulus materials and eye tracking variables that, thanks to their robustness, appear promising even when dealing with noisy eye tracking data typical of young children. In the preferential paradigm, beyond AOI ratio measures, GRI variables show promise in distinguishing between toddler groups with higher vs. lower ADOS scores. Furthermore, they may be related to severity based on their marked and significant correlations with ADOS scores. Especially when used in combination, these variables appear well-suited to capturing characteristics indicative of an elevated likelihood of autism.
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40. Pan Y, McDill B, Mooney M. The Contribution of Ethnicity to the Association of MTHFR Variants C677T and A1298C with Autism Spectrum Disorder: A Meta-Analysis. Brain Sci. 2026; 16(1).
Background: Common polymorphisms in the MTHFR gene, C677T and A1298C, have been associated with increased risk for psychiatric neurodevelopmental disorders, including autism spectrum disorder (ASD). However, studies provide conflicting evidence for the strength of the association with ASD based on both the allelic variant and population structure of the cohorts studied. Methods: Using systematic literature search and selection criteria, we calculated ASD-associated odds ratios for the two most-reported MTHFR variants. Twenty-two articles reported the association between MTHFR C677T and ASD, including 13913 subjects (4391 cases, 9522 controls). Nine articles, including 3009 subjects (1462 cases, 1547 controls), evaluated the link between MTHFR A1298C and ASD susceptibility. Results: We identified a statistical association between ASD and the MTHFR C677T variant, regardless of race or ethnicity. However, there was no statistical support for an association between ASD and the MTHFR A1298C variant. In both cases, substantial-to-considerable residual heterogeneity remained (I(2) ~67% and 73%, respectively). Exploring the heterogeneity by meta-regression on race/ethnicity, the African (Egyptian) cohort with MTHFR C677T variants had a higher ASD susceptibility than Asian or European cohorts in most models, though this susceptibility difference was not observed between Africans and Europeans for the homozygous case (TT vs. CC). Similarly, the African (Egyptian) cohort with MTHFR A1298C variants also had a higher ASD susceptibility than Asian or European cohorts in most models, though this susceptibility difference was not observed between Africans and Asians for the homozygous case (CC vs. AA). Conclusions: Our findings support previous analyses that identified a statistical association between ASD and the MTHFR C677T variant but none between ASD and the MTHFR A1298C variant. We also reveal a greater potential for these variants to exacerbate ASD phenotypes in an African (Egyptian) cohort. Future studies should assess the mechanistic contribution of these variants to MTHFR function, especially potential hypomorphic sensitivity in individuals with African (Egyptian) ancestry.
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41. Papadopoulos D, Maniadaki K. Effects of Mindfulness-Based Cognitive Therapy on Parental Mental Health and Child Behavior in Families of Children with Autism Spectrum Disorder: A Randomized Controlled Trial. Children (Basel). 2025; 13(1).
Background/Objectives: Caring for a child with Autism Spectrum Disorder (ASD) is often associated with elevated psychological distress and reduced life satisfaction. Mindfulness-based interventions may offer substantial benefits by enhancing emotion regulation, reducing maladaptive cognitive patterns, and strengthening mindful parenting. This randomized controlled trial (RCT) examined the effectiveness of an eight-week Mindfulness-Based Cognitive Therapy (MBCT) program, enriched with mindful parenting practices, delivered to parents of children with ASD. The primary aim was to improve parental mental health, while secondary analyses explored potential indirect, parent-perceived changes in child behavior outcomes. Methods: Fifty-six parents of children with ASD were randomly assigned to an MBCT intervention group (n = 30) or a waitlist control group (n = 26). Parents completed assessments at baseline (T0), post-intervention (T1), and at one-month follow-up (T2), including the Depression Anxiety Stress Scales-21 (DASS-21), the Positive and Negative Affect Schedule (PANAS), and the Satisfaction With Life Scale (SWLS). They also rated the overall severity of their child’s behavior problems to explore indirect treatment effects. Results: All parents receiving MBCT (100%) completed the program successfully and reported high acceptability. At baseline, no significant differences were observed between groups. At T1, the MBCT group demonstrated significant reductions in depression, anxiety, and stress, alongside increases in positive affect and life satisfaction. These improvements were maintained or strengthened at T2. However, the control group showed no significant changes over time. Additionally, parents in the MBCT group reported indirect improvements in their children’s behavioral adjustment at T1 and T2. Conclusions: Findings demonstrate that MBCT constitutes an effective intervention for reducing parental psychopathology and indirectly supporting parent-perceived improvements in child behavior, emphasizing the importance of incorporating mindfulness and mindful parenting components into family-centered interventions for parents of children with ASD.
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42. Sabadini G, Palacios-Muñoz A, García IE, Romero-Parra J, Moraga D, Soto M, Vega-Muñoz A, Contreras-Barraza N, Salazar-Sepúlveda G, Mella J, Mellado M. Mapping Global Research Trends on Autism Spectrum Disorder: A Bibliometric Analysis of Pharmacology and Pharmacy Studies. Pharmaceuticals (Basel). 2026; 19(1).
Background: Autism spectrum disorder (ASD) represents a major challenge in neurological development research and is receiving increasing attention from the pharmacological and pharmaceutical sciences. Despite this constant growth, there is no document that provides a comprehensive overview integrating publication trends, key contributors, and thematic developments, allowing efforts to be focused on specific areas. Objective: To conduct a comprehensive bibliometric analysis of pharmacological research related to ASD published between 2001 and 2025. Methods: The database obtained contains 1170 articles indexed in the Web of Science (WoS) database in the JCR Pharmacy and Pharmacology category. Bibliometric indicators such as publication growth, h-index, authorship, institutional and national productivity, and keyword co-occurrence were analyzed using VOSviewer and the laws of Price, Bradford, Zipf, and Lotka. Results: A total of 1170 documents were analyzed, showing an exponential increase in pharmacological research related to ASD over the last two decades. The United States, China, and Italy emerged as the most productive countries, while King Saud University, Harvard Medical School, and The Ohio State University were among the leading institutions. The most frequently cited keywords, such as « autism spectrum disorder, » « valproic acid, » « oxidative stress, » and « flavonoids, » revealed a translational approach linking neurobiological mechanisms, redox imbalance, and therapeutic interventions. Contemporary research emphasizes immuno-synaptic interactions, microbiota, and biomarker-guided approaches. Conclusions: This study highlights the global expansion and diversification of pharmacological research in ASD. The results underscore a shift toward integrated biological frameworks and precision-oriented strategies, reinforcing the need for interdisciplinary collaboration to advance translational outcomes in ASD therapy.
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43. Salemi M, Schillaci FA, Salluzzo MG, Lanza G, Figura M, Greco D, Schinocca P, Marchese G, Cordella A, Ferri R, Romano C. Dysregulation of miRNAs in Sicilian Patients with Autism Spectrum Disorder. Biomedicines. 2026; 14(1).
Background: Autism spectrum disorder (ASD) is a highly prevalent neurodevelopmental condition influenced by both genetic and non-genetic factors, although the underlying pathomechanisms remain unclear. We systematically analyzed microRNA (miRNA) expression and associated functional pathways in ASD to evaluate their potential as prenatal/postnatal, diagnostic, and prognostic biomarkers. Methods: Peripheral blood mononuclear cells from 12 Sicilian patients with ASD (eight with normal cognitive function) and 15 healthy controls were analyzed using small RNA sequencing. Differential expression analysis was performed with DESeq2 (|fold change| ≥ 1.5; adjusted p ≤ 0.05). Functional enrichment and network analyses were conducted using Ingenuity Pathway Analysis, focusing on Diseases and Biofunctions. Results: 998 miRNAs were differentially expressed in ASD, 424 upregulated and 553 downregulated. Enriched pathways were primarily associated with psychological and neurological disorders. Network analysis highlighted three principal interaction clusters related to inflammation, cell survival and mechanotransduction, synaptic plasticity, and neuronal excitability. Four miRNAs (miR-296-3p, miR-27a, miR-146a-5p, and miR-29b-3p) emerged as key regulatory candidates. Conclusions: The marked divergence in miRNA expression between ASD and controls suggests distinct regulatory patterns, thus reinforcing the central involvement of inflammatory, autoimmune, and infectious mechanisms in ASD, mediated by miRNAs regulating S100 family genes, neuronal migration, and synaptic communication. However, rather than defining a predictive biomarker panel, this study identified candidate miRNAs and regulatory networks that may be relevant to ASD pathophysiology. As such, further validation in appropriately powered cohorts with predictive modeling frameworks are warranted before any biomarker or diagnostic implications can be inferred.
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44. Sánchez-Cerezo J, Paricio Del Castillo R, García-Murillo L, Centeno-Soto G, Jodar Gómez M, Ruiz-Antorán B, Palanca-Maresca I. Antipsychotic Treatment and Longitudinal Body Mass Index Trajectories in Youth with and Without Autism Spectrum Disorder. J Clin Med. 2026; 15(2).
Background: Children and adolescents with autism spectrum disorder (ASD) frequently receive antipsychotics and are considered at increased risk for weight gain. Few studies have compared longitudinal weight trajectories between youth with ASD and those with other psychiatric disorders. Methods: This naturalistic, registry-based study used data from the SENTIA cohort, which prospectively monitors antipsychotic safety in individuals under 18 years at a university hospital in Spain. Clinical characteristics were compared between participants with and without ASD. Longitudinal body mass index (BMI) z-score trajectories were analysed using linear mixed-effects models. Results: The sample included 266 participants, of whom 113 (42.5%) had ASD. Individuals with ASD were more often male and initiated antipsychotic treatment at a younger age. Of the 26 participants prescribed an antipsychotic before age 6, 88.5% had ASD. Comorbidity profiles were similar across groups. Risperidone and aripiprazole were the most frequently prescribed antipsychotics. BMI z-scores increased over time (β = 0.130, p = 0.017), and baseline BMI z-score was the strongest predictor. ASD diagnosis did not modify the average linear rate of BMI z-score change (time × ASD: p = 0.251); however, a significant quadratic time × ASD interaction (β = -0.016, p = 0.041) was consistent with a more pronounced early increase followed by earlier attenuation of BMI z-scores in the ASD group. Conclusions: Although antipsychotic treatment was initiated earlier in youth with ASD, no clear difference was observed in the rate of BMI z-score change. Differences in weight trajectories underscore the need for metabolic monitoring in antipsychotic-treated youth.
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45. Shen W, Huang Y, Zhang L, Fu S. The Impact of Perceptual Load and Distractors’ Perceptual Grouping on Visual Search in ASD. Behav Sci (Basel). 2026; 16(1).
This study examined potential visual search advantages in individuals with autism spectrum disorder (ASD) and explored the roles of distractor grouping and perceptual load by comparing their performance with that of typically developing (TD) controls. Participants were required to search for large or small targets under two levels of perceptual load, with distractors being either large or small. The results showed the following: (1) Search speed in the ASD group was slower than that of the TD group. (2) The effect of distractor grouping was stronger in the Target-Nontarget (T-N) size-inconsistent condition than in the consistent condition. Both groups showed a T-N size-consistency effect-response speeds in the T-N size-inconsistent condition were faster, indicating that distractor grouping improves search efficiency. (3) Under high load, the TD group exhibited a stronger T-N size-consistency effect than the ASD group, whereas no significant difference was observed under low load. This suggests that distractor grouping in the ASD group is less effective than in TD participants under high load. (4) Under the T-N size-inconsistent condition, participants with ASD detected small targets faster under low load, whereas TD participants detected large targets faster under high load. This indicates that distractor grouping facilitates visual search in ASD under low load. Both groups focus more on targets under high load. In conclusion, although ASD shows no search advantage, improving distractor grouping can speed up target search. Nevertheless, under high load, distractor grouping in individuals with ASD is weaker than in TD individuals, consistent with the weak central coherence theory. Additionally, ASD displays size asymmetry that is influenced by load, with distractor grouping aiding target detection in low load and reducing distractor processing under high load.
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46. Sicimoğlu A, de Wit L, Begeer S. The Role of Demographic and Autism Specific Factors on the Level of Depression in Autistic Adults. J Autism Dev Disord. 2026.
PURPOSE: Autistic adults often face co-occurring depressive symptoms. While previous studies have focused primarily on depression in children with autism, this study aims to investigate the factors associated with depressive syptoms in autistic adults. By examining a broader range of variables including sociodemographic factors and autistic traits like sensory sensitivity and restricted and repetitive behaviors, we seek to gain a more comprehensive understanding of the elevated levels of depression within this population. METHODS: This quantitative study utilized a cross-sectional design. Two hierarchical regression analyses were conducted. The first analysis included all participants (N=438), focusing on demographic factors such as age, gender, income, in the first model and autistic traits such as repetitive behaviors, and depressive symptoms in the second model. The second analysis included a reduced sample (N=305) that additionally incorporated sensory sensitivity data. RESULTS: Older age, lower income, and a greater number of co-occurring psychosocial problems were significantly associated with higher levels of depressive symptoms. CONCLUSIONS: Our research, unique by its large sample of adults with autism and innovative exploration of potential factors of influence, offers valuable insights into the unique challenges faced by autistic adults. Our findings highlight the difficulty older autistic individuals may encounter in accessing support services primarily designed for younger populations. Moreover, co-occurring problems and lower income can exacerbate these challenges, leading to instability and limited access to resources. These results underscore the urgent need for societal inclusion and tailored support systems to promote the mental well-being of autistic adults.
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47. Slabšinskienė E, Lazarukaitė L, Kurenkovas N, Kavaliauskienė A, Grigalauskienė R, Vasiliauskienė I, Zaborskis A. Direct and Indirect Effects of Autism Spectrum Disorder Severity on Dental Health Status in Children and Adolescents: A Structural Equation Modeling Approach. Medicina (Kaunas). 2025; 62(1).
Background and Objectives: Current evidence remains insufficient to determine whether the impact of autism spectrum disorder (ASD) on dental health is primarily mediated through oral hygiene and dietary habits or through direct effects of the disorder itself. This study examined the theoretical pathways through which ASD severity and toothbrushing-related and dietary-choice-related factors influence dental health in autistic children and adolescents. Materials and Methods: A cross-sectional study was conducted with 399 mothers reporting on their autistic children (aged 2-18 years, mean = 7.8). The exclusion criterion was being older than 18 years. Data included parent-reported data about ASD severity, dental health status, willingness to brush teeth, and dietary quality (assessed using the Diet Quality Inventory). Structural Equation Modeling (SEM) was used to analyze the direct and indirect effects of ASD severity on dental health, with probit regression coefficients estimated using the WLSMV method. Results: Parent-reported variables of ASD severity, diet quality, and toothbrushing willingness together explained 37% of the variance in dental health. The direct effect of ASD severity on dental health was 0.199 (p = 0.039). The indirect effect via toothbrushing was 0.137 (p = 0.006), and via diet quality, it was 0.070 (p = 0.020). The total indirect effect of ASD on dental health was 0.207 (p = 0.026), which was approximately as strong as the direct effect. The associations among the studied variables were statistically equivalent across sex and age groups. Conclusions: Parent-reported ASD severity shows significant association with dental health outcomes, both directly and indirectly, with toothbrushing behavior emerging as the primary mediator. Interventions that promote regular brushing (and, to a lesser extent, healthier eating) may help to reduce the dental health disparities associated with autism.
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48. Snir A, Zamstein O, Wainstock T, Sheiner E. Small for Gestational Age and Autism Spectrum Disorder in Childhood: Investigating a Potential Contributory Association. Am J Obstet Gynecol MFM. 2026: 101904.
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49. Soldateschi L, Leoncini S, Fiorino F, Lucchesi S, Polvere J, Boasiako L, Pastore G, Fazzi C, Altamura M, Scandurra V, Grosso S, Montagnani F, De Felice C, Ciabattini A, Medaglini D. Unexpectedly competent immune response to SARS-CoV-2 vaccination in Rett syndrome. Hum Vaccin Immunother. 2026; 22(1): 2612817.
Rett syndrome (RTT) is a rare neurodevelopmental disorder of genetic origin characterized by chronic low-grade inflammation, immune imbalance, and frequently associated with compromised respiratory function. During the COVID-19 pandemic, individuals with RTT were classified as high-risk and invited to follow stringent vaccination protocols that included multiple booster doses. However, the immune response elicited by vaccination in this population has never been systematically investigated. Here, we provide the first characterization of spike-specific antibody and memory B cell responses in 23 RTT patients following two or three doses of SARS-CoV-2 mRNA vaccines. RTT patients developed spike-specific IgG levels comparable to those observed in healthy female controls (GMT 8476 [range 5120-20480] and 9213 [640-81920] after the first two vaccine doses, respectively). The frequencies and phenotype of spike-specific memory B cells were also similar between RTT and controls (mean frequency of 1.3 ± 0.6 and 1.6 ± 1.1, respectively) and these cells displayed functional reactivity upon antigenic stimulation in vitro. The assessment of vaccine-induced immunity in RTT addresses a critical knowledge gap by demonstrating the ability of these patients to develop an immune response to mRNA vaccination, thereby providing insights that may inform tailored vaccination strategies and improve understanding of immune competence in this rare disorder.
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50. Sullivan AC, Vas AK, Tierney S, Toglia J. Assessing Functional Cognition in Autistic Adults: The Weekly Calendar Planning Activity. Am J Occup Ther. 2026; 80(2).
IMPORTANCE: Autistic adults often experience difficulties with executive functions that affect independent living, education, and employment. The Weekly Calendar Planning Activity (WCPA) is a promising performance-based assessment of functional cognition, but research with autistic adults is limited. OBJECTIVE: To examine patterns of functional cognition in autistic young adults using the WCPA. DESIGN: Cross-sectional between-groups and within-group design. SETTING: Community. PARTICIPANTS: Autistic (n = 55) and neurotypical (n = 32) young adults (ages 18-30) without intellectual disability. OUTCOMES AND MEASURES: We used the Weekly Calendar Planning Activity, adult Level 2, to examine the differences between autistic and neurotypical adults in (1) initial planning time for the activity, (2) rules followed, (3) appointment accuracy, (4) efficiency, (5) types of errors, and (6) strategies used. We also examined the correlation between strategies used and WCPA accuracy of autistic adults. RESULTS: Significant group differences were found in planning time, rules followed, appointment accuracy, efficiency, error types, and strategies used. Among autistic adults, the number of strategies used correlated significantly with WCPA accuracy (r = .42). CONCLUSIONS AND RELEVANCE: Autistic adults experience difficulties in functional cognition, including managing multiple task components, resolving conflicts, managing distractions, and organizing information efficiently. The WCPA has promise as a tool to help guide intervention focused on building self-awareness and strategy use to improve daily functioning. Plain-Language Summary: Autistic young adults often experience difficulties with executive functioning that can make the transition to adult life challenging. Functional cognition, the ability to integrate cognitive skills to manage everyday activity, is essential for independent functioning. However, little is known about how autistic adults perform in real-world tasks that require executive functioning skills. This study used the Weekly Calendar Planning Activity to identify specific areas in which autistic adults may encounter difficulty, such as organizing tasks and managing distractions. These findings can help guide therapists in designing interventions that support autistic adults in developing strategies to improve their daily lives.
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51. Tavasoli K, O’Neil SH, Chang MY. Adaptive, social, and repetitive behaviors in children with autism spectrum disorder and comorbid amblyopia and/or strabismus. J aapos. 2026: 104734.
BACKGROUND: Children with autism spectrum disorder (ASD) have higher rates of visual disorders, such as amblyopia and strabismus, but the impact of these disorders on autism symptoms is unknown. We assessed adaptive, social, and repetitive behaviors in children with ASD with and without binocular vision disorders (amblyopia and strabismus). METHODS: Children aged 3-17 years were categorized into one of two groups: ASD with comorbid amblyopia or strabismus (ASD+/BVD+) or ASD without a visual disorder (ASD+/BVD-). All participants underwent a complete ophthalmologic examination to inform group assignment. Parents or guardians completed standardized questionnaires to assess participants’ adaptive functioning (Vineland Adaptive Behavior Scales, 3rd ed [VABS-III]), social responsiveness (Social Responsiveness Scale, 2nd ed [SRS-2]), and repetitive behaviors (Repetitive Behavior Scale-Revised [RBS-R]). ASD+/BVD+ and ASD+/BVD- groups were compared using multivariable regression analysis correcting for age and sex. RESULTS: We recruited 14 children in the ASD+/BVD+ group and 29 children in the ASD+/BVD- group. Groups were matched on age, sex, IQ, and overall autism severity. ASD+/BVD+ children had lower scores on the VABS-III Composite and Socialization domain. On the RBS-R, ASD+/BVD+ children exhibited greater insistence on sameness. There were no differences between groups on SRS-2 scores. CONCLUSIONS: Our findings suggest that children with ASD and comorbid amblyopia or strabismus have worse adaptive behaviors than children with ASD without visual disorders, particularly with regard to socialization.
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52. Toraih EA, Zeleny J, Sames C, Craig A, Hagearty-Mattern C, Coyle S, Lois A, Elshazli RM, Aiash H. Breaking the Cycle: Impact of Physical Activity on Sleep Disorders in Autism-A Five-Year Longitudinal Analysis. Children (Basel). 2025; 13(1).
BACKGROUND/OBJECTIVES: Sleep disorders represent a significant health burden among children and adolescents with autism spectrum disorder (ASD), affecting their core symptoms, behavior, and quality of life. While physical activity has shown promise in managing sleep disorders in the general pediatric population, its effectiveness for children and adolescents with ASD remains understudied. METHODS: This retrospective cohort study analyzed electronic health records from 132 healthcare organizations, examining 155,860,529 individuals to determine sleep disorder prevalence in ASD populations and evaluate the impact of physical activity interventions. We identified 248,940 children and adolescents with ASD aged 5-18 years, of whom 38,976 had documented sleep disorders. Propensity score matching was performed to compare patients with ASD and sleep disorders who received physical activity interventions with matched controls. Primary outcomes included sleep disorder resolution and medication utilization changes at 1- and 5-year follow-up. Bonferroni correction was applied to secondary analyses to account for multiple comparisons. RESULTS: The prevalence of sleep disorders was markedly higher in children and adolescents with ASD (19.25%) compared to non-ASD peers (3.37%), with risk ratios escalating from childhood (RR = 5.34, 95% CI: 5.28-5.40) to adolescence (RR = 6.12, 95% CI: 6.05-6.19). After matching, 3709 patients were included in each group. Physical activity interventions were associated with significantly higher sleep disorder resolution at 1 year (-59.9% vs. -5.05%, p = 0.001) and sustained benefit at 5 years (-49.83% vs. +7.26%, p = 0.001). After Bonferroni correction, improvement in sleep apnea at 1 year remained statistically significant (-62.26% vs. +9.39%, Bonferroni-adjusted p = 0.040). Improvements in parasomnia and insomnia did not survive correction and were considered exploratory. Age emerged as a key effect modifier: adolescents (12-18 years) demonstrated sustained improvements in overall sleep outcomes at both 1- and 5-year follow-up that met Bonferroni-corrected thresholds, whereas younger children (5-11 years) showed limited and inconsistent responses. Among comorbidity groups, anxiety-comorbid patients exhibited the strongest overall improvement (-58.7% vs. -12.4%, p < 0.01), while reductions in amphetamine use and changes in melatonin prescribing patterns should be interpreted as exploratory findings requiring prospective confirmation. CONCLUSIONS: This large-scale observational study suggests structured physical activity interventions are associated with sustained improvements in overall sleep disorders among children and adolescents with ASD. While subtype- and subgroup-specific associations were observed, many attenuate after multiple comparison adjustments, highlighting the need for cautious interpretation. Findings support exploring physical activity in comprehensive care plans, with prospective randomized trials needed to confirm causality, optimize protocols, and address multiplicity.
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53. Tsai JM, Corey J, Tsuzuki D, Bhat A. Differences in Executive Functioning Performance and Cortical Activation Between Autistic and Non-Autistic Youth During an fNIRS Flanker Task: A Pilot Study. Brain Sci. 2025; 16(1).
Background/Objectives: Autism spectrum disorder is associated with executive functioning (EF) challenges, yet the neural correlates of EF challenges in autistic youth remain unclear. This study aimed to examine EF performance and cortical activation in autistic versus non-autistic youth, using functional near-infrared spectroscopy (fNIRS) during a modified Flanker task. Methods: Thirty age-matched (11.6 ± 0.8 years) autistic (N = 15) and non-autistic youth (N = 15) completed congruent and incongruent conditions of a modified Flanker task while cortical activation in prefrontal, parietal, and temporal regions was recorded using fNIRS. The Behavior Rating Inventory of Executive Function (BRIEF) was used to assess general EF impairments. Behavioral data (i.e., Flanker task mean reaction time/accuracy, and reaction time variability) and cortical activation were analyzed using ANCOVAs. Pearson correlations were used to determine the relationship between cortical activation, EF performance, and clinical measures. The significance level was set at p < 0.05, with FDR corrections for multiple comparisons. Results: While mean reaction time and accuracy were comparable across groups, autistic youth exhibited greater reaction time variability (autistic youth = 34.8 ± 10.36; controls = 26.4 ± 1.94, p = 0.02, Hedges' g = 0.85) and higher BRIEF index scores compared to controls (p(s) < 0.001, Hedges' gs > 1.3; e.g., Global Executive Composite Score for autistic youth = 71.3 ± 3.7; controls = 47.8 ± 2.4), indicative of delayed EF development. During the incongruent condition, compared to non-autistic controls, autistic youth showed lower left inferior parietal lobe (IPL) activation (Mean HbO(2) in autistic youth = -0.02 ± 0.006 mmol.mm; controls = 0.01 ± 0.006 mmol.mm, p(s) < 0.001, Hedges' g = 0.5) and a lack of left-lateralized activation (e.g., left vs. right STS activation, p < 0.001, Hedges' g = 0.41 in the non-autistic youth). In the ASD group, lower activation in the left STS was associated with lower EF performance (r = -0.28, p = 0.007), whereas greater activation in various right-hemispheric ROIs was associated with better EF performance (r = -0.31 to -0.35, p(s) < 0.005), suggesting potential compensatory activation. Conclusions: The findings revealed ASD-specific differences in the neural correlates of EF performance and possible alternative compensatory activation patterns. These potential neural correlates of EF performance highlight the utility of fNIRS-based neural measures to better understand the neural bases of EF differences in autism. Study Registration: This study was approved by the Institutional Review Board (IRB) at the University of Delaware (Protocol #: 1947455) on 4 October 2022.
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54. Tsapanou A, Bouka A, Papadopoulou A, Vamvatsikou C, Mikrouli D, Theofila E, Dionysopoulou K, Kortseli K, Lytaki P, Spyridonidi TM, Plotas P. Application of Artificial Intelligence Tools for Social and Psychological Enhancement of Students with Autism Spectrum Disorder: A Systematic Review. Brain Sci. 2025; 16(1).
BACKGROUND: Children with autism spectrum disorder (ASD) commonly experience persistent difficulties in social communication, emotional regulation, and social engagement. In recent years, artificial intelligence (AI)-based technologies, particularly socially assistive robots and intelligent sensing systems, have been explored as complementary tools to support psychosocial interventions in this population. OBJECTIVE: This systematic review aimed to critically evaluate recent evidence on the effectiveness of AI-based interventions in improving social, emotional, and cognitive functioning in children with ASD. METHODS: A systematic literature search was conducted in PubMed following PRISMA guidelines, targeting English-language studies published between 2020 and 2025. Eligible studies involved children with ASD and implemented AI-driven tools within therapeutic or educational settings. Eight studies met inclusion criteria and were analyzed using the PICO framework. RESULTS: The reviewed interventions included humanoid and non-humanoid robots, gaze-tracking systems, and theory of mind-oriented applications. Across studies, AI-based interventions were associated with improvements in joint attention, social communication and reciprocity, emotion recognition and regulation, theory of mind, and task engagement. Outcomes were assessed using standardized behavioral measures, observational coding, parent or therapist reports, and physiological or sensor-based indices. However, the studies were characterized by small and heterogeneous samples, short intervention durations, and variability in outcome measures. CONCLUSIONS: Current evidence suggests that AI-based systems may serve as valuable adjuncts to conventional interventions for children with ASD, particularly for supporting structured social and emotional skill development. Nonetheless, methodological limitations and limited long-term data underscore the need for larger, multi-site trials with standardized protocols to better establish efficacy, generalizability, and ethical integration into clinical practice.
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55. Varnas D, Kunevičius A, Burokas A, Urbonas V. Fecal Microbiota Transplantation for Autism Spectrum Disorder in Children: Results from a Prospective Open-Label Controlled Observational Study. Medicina (Kaunas). 2025; 62(1).
Background and Objectives: Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder with an increasing global incidence. Gut microbiota dysbiosis is believed to be playing a role in ASD pathogenesis. Fecal microbiota transplantation (FMT) is emerging as a potential therapeutic strategy to alleviate ASD-related and gastrointestinal symptoms, but data in pediatric ASD populations remain limited. Materials and Methods: We conducted a prospective, single-center, open-label controlled study to evaluate the efficacy of colonoscopic FMT in children with ASD. Participants were allocated to two groups: an intervention group that underwent a single FMT procedure and a control group. Gastrointestinal Symptoms Rating Scale (GSRS), Autism Diagnostic Observation Schedule (ADOS), Childhood Autism Rating Scale (CARS), Child Behavior Checklist (CBCL), and Parent Global Impression (PGI-R) scales were assessed for both groups at baseline and at set time points. Results: 30 participants were enrolled, with 15 in each group. At 8 weeks, no significant between-group differences were observed for the prespecified primary endpoint, change in ADOS scores. The intervention group showed significantly greater improvements in CARS (p < 0.001), PGI-R (p < 0.001), CBCL Internalizing Problems (p = 0.001), and GSRS (p = 0.037) compared with controls; CARS and PGI-R improvements persisted at 6 months. Within the intervention group, sustained improvements were noted in CARS, GSRS, and PGI-R up to 18 months. No serious adverse events were observed; three mild, self-limited adverse events were recorded following FMT. Conclusions: Colonoscopic FMT was associated with significant short-term improvements in gastrointestinal and caregiver-reported ASD symptoms (CARS), but not in ADOS scores. Some effects persisted long-term. However, due to a lack of blinding and possible selection bias, these findings should be interpreted as exploratory. Larger randomized controlled trials are needed to confirm efficacy and optimize protocols.
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56. Visser M, Béasse A, El Gholabzouri H, Chenault M, Didou J, Kostova M, Morvan Y, Mendy M, Amado I, Moualla M. Integrative social cognition remediation with social skills training for adults: PICSIS – pilot study in autism and schizophrenia. Front Psychiatry. 2025; 16: 1688937.
Autism spectrum disorder (ASD) and schizophrenia share neurodevelopmental alterations, particularly deficits in social cognition (SC) that strongly influence social and functional outcomes. Although social cognition remediation (SCR) and social skills training (SST) have each shown efficacy, no validated intervention yet integrates both approaches. This open-label, prospective study examined the feasibility and preliminary effects of PICSIS (Programme Intégratif de remédiation de la Cognition Sociale et d’Interaction Sociale), a group-based program alternating 19 SCR and 11 SST sessions over 30 biweekly sessions. Eighteen clinically stable adults with ASD or schizophrenia (mean age = 35.8 ± 9.3 years) completed the intervention. Feasibility was assessed through attendance and dropout rates; clinical, cognitive, and functional outcomes were evaluated pre- and post-intervention using validated French instruments (ClaCoS battery, ERF-CS, GAF, BPRS). Attendance was high (89.4%), confirming feasibility. While clinical symptoms and global functioning did not significantly change, participants showed significant improvements in theory of mind (MASC, p = 0.033, r = 0.61), reduced hostility attribution bias (AIHQ, p = 0.009, r = 0.82), and fewer self-reported SC complaints (ACSo, p = 0.0037, r = 0.89). Functional outcomes exhibited positive, non-significant trends. These preliminary findings indicate that PICSIS is feasible, well tolerated, and associated with specific social cognitive benefits across diagnostic categories. Further randomized controlled studies with larger samples are warranted to confirm its efficacy and long-term impact.
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57. Waghmare S, Taylor AM, Bouska C, Moreno Chaza A, Gropman A. The Role of Genetic Testing in Pediatric Expressive Language Delay: Evidence from the National Brain Gene Registry. Genes (Basel). 2026; 17(1).
BACKGROUND/OBJECTIVES: Speech and language delay (SLD) is one of the most prevalent developmental conditions in childhood, with post-pandemic data indicating a notable increase in identified cases. Within this group, expressive language disorder (ELD) frequently appears alongside neurodevelopmental disorders such as autism spectrum disorder (ASD), epilepsy, and intellectual disability. Although awareness of ELD has grown, the role of genetic testing in its evaluation remains unclear, as such testing is not routinely pursued for isolated expressive language concerns. This gap highlights the need to better define the diagnostic value of genetic analysis and to examine the interval between an ELD diagnosis and the return of genetic testing results. METHODS: This study investigated genetic contributions to ELD using the National Brain Gene Registry (BGR), a multisite database of rare neurodevelopmental disorders. Participants with ICD-10 code F80.1 were identified through electronic health records; demographic data, comorbidities, genetic variants, inheritance patterns, age at diagnosis, and timing of interventions were analyzed. RESULTS: Of 687 BGR participants, 32 (4.7%) had documented ELD. The cohort, aged 3-19 years, presented with common comorbidities like developmental delays, ASD, epilepsy, and hypotonia. Across 42 genes, 49 unique variants were identified: 26 pathogenic or likely pathogenic, 22 variants of uncertain significance, and one benign variant. Seventeen variants were de novo, and 10 participants carried multiple variants. Most children (80%) received an expressive language diagnosis prior to genetic testing, with reports returned an average of 1.5 years following the diagnosis. CONCLUSIONS: Overall, children with ELD commonly carry genetic variants and neurodevelopmental comorbidities, yet genetic testing is typically pursued well after diagnosis and does not currently alter early management. These findings underscore the need for clearer, evidence-based guidelines to define when genetic testing adds diagnostic or prognostic value in the evaluation of ELD.
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58. Wang H. Beyond Neurodevelopmental Delay: BICRA-Related Coffin-Siris Syndrome 12 with Severe Intestinal Dysmotility and Recurrent Pneumothorax. Genes (Basel). 2026; 17(1).
BACKGROUND: Coffin-Siris syndrome 12 (CSS12) is a recently described neurodevelopmental disorder caused by heterozygous pathogenic variants in BICRA, a gene encoding a core subunit of the non-canonical BAF (ncBAF) chromatin-remodeling complex. The condition is characterized by developmental delay, hypotonia, hypertrichosis, and joint laxity. However, long-term data remain limited, and systemic manifestations are incompletely defined. CASE DESCRIPTION: We report a 22-year-old male with a de novo BICRA frameshift variant, c.2479_2480delinsA (p.Ala827Thrfs*15), previously included in the original cohort reported by Barish et al. Longitudinal follow-up revealed an expanded phenotype extending beyond neurodevelopmental features. Early findings included global developmental delay, growth hormone deficiency, short stature, and joint hypermobility. In adolescence and adulthood, he developed severe intestinal dysmotility requiring total colectomy, recurrent spontaneous pneumothoraces from bilateral apical bullous disease, and portal-vein thrombosis, representing visceral and vascular complications not previously emphasized in BICRA-related disorders. The identified BICRA variant truncates the coiled-coil domain critical for BRD9/BRD4 interaction, consistent with a loss-of-function mechanism. The patient’s systemic features suggest that BICRA haploinsufficiency affects not only neurodevelopmental pathways but also smooth-muscle and connective-tissue integrity. CONCLUSIONS: This case expands the phenotypic spectrum of BICRA-related CSS12, demonstrating that visceral and vascular involvement can occur alongside neurodevelopmental and connective-tissue features. Recognition of these broader manifestations underscores the need for lifelong multidisciplinary surveillance and contributes to understanding the diverse biological roles of the ncBAF complex in human development.
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59. Watkins JM, Block ME, Goss JM, Munn EM, Antczak DX. Diagnosis-Specific Links Between Physical Activity and Sleep Duration in Youth with Disabilities: A Systematic Review with Quantitative Synthesis. Int J Environ Res Public Health. 2026; 23(1).
Children and adolescents with disabilities experience disproportionate challenges in achieving recommended levels of physical activity (PA) and adequate sleep, two core determinants of health and functional well-being. This systematic review examined associations between meeting PA guidelines and sleep duration among youth with disabilities. Following PRISMA guidelines, MEDLINE, PsycARTICLES, and SPORTDiscus were searched through Spring 2024 for studies assessing PA and sleep in children and adolescents (<18 years) with disabilities using subjective or objective measures. Data were extracted from 28 studies (N = 138,016) and synthesized using qualitative methods and regression-based quantitative analyses to examine the effects of diagnosis category and PA guideline adherence on sleep duration. The diagnosis type was associated with sleep duration, with youth with autism spectrum disorder (ASD) exhibiting shorter sleep than those with physical disabilities. Meeting PA guidelines (≥60 min/day) was associated with longer sleep duration among youth with ASD, but not consistently across other diagnostic groups. Qualitative findings further indicated diagnosis-specific variability, with PA positively associated with sleep outcomes in ASD, attention deficit/hyperactivity disorder, and epilepsy, and mixed associations observed for cerebral palsy and intellectual disability. These findings suggest that PA may support sleep health in specific disability groups. Given persistently low PA participation among youth with disabilities, integrating accessible, diagnosis-specific PA opportunities within school, community, and clinical settings may represent a feasible strategy to improve sleep and overall health.
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60. Wieckowski AT, Perez Liz G, McGhee Hassrick E, Koku E, Frick E, Austin A, Robins DL. Navigating the Challenges: A Commentary on Barriers to Autism Screening in Childcare Centers. Behav Sci (Basel). 2026; 16(1).
Although the American Academy of Pediatrics has long recommended universal autism-specific screening at well-child pediatric visits, implementation challenges in primary care settings interfere with high-fidelity universal autism screening. These challenges delay autism identification for some children, leading to delays in needed services and supports. Prior findings indicate that new solutions must be developed to bridge the gap in access to autism screening for families, particularly among those who are under-resourced. One approach is expanding screening to other community settings, such as childcare centers, but there are barriers to this approach, which this commentary aims to address. We discuss challenges and barriers in childcare screening identified through our recently completed pilot study screening for autism in childcare centers, with suggested strategies to address them. These challenges include hesitation among childcare staff to guide conversations or concerns about autism, and stigma around autism diagnosis and presentation. Other challenges relate to emerging concerns regarding legal, ethical, and professional roles and responsibilities surrounding informed consent and data privacy, as well as the identification of children without timely follow-up evaluation and services. There is a need for increasing public awareness as an essential component of autism screening across settings. Our commentary discusses different considerations and practice strategies to meet these needs.
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61. Wills V, Chakraborty R. A Qualitative Study on the Experiences of Adult Females with Late Diagnosis of ASD and ADHD in the UK. Healthcare (Basel). 2026; 14(2).
Background: Adult females with Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD) are frequently underdiagnosed due to gender bias, overlapping symptoms, and limited awareness among healthcare professionals. The scarcity of research on this subject-particularly in the UK context-underscores the need for further investigation. Accordingly, the aim of this study was to explore the lived experiences of adult females receiving a late diagnosis of ASD and/or ADHD and to identify key barriers within the UK diagnostic pathway. This study addresses a critical knowledge gap by examining the factors contributing to delayed diagnosis within the United Kingdom. Study Design and Method: The study employed a qualitative approach, utilising an anonymous online questionnaire survey comprising nine open-ended questions. Responses were obtained from 52 UK-based females aged 35-65 years who had either received or were awaiting a diagnosis of ASD and/or ADHD. Data were analysed thematically within a constructivist framework. Findings: The analysis revealed three overarching themes: (i) limited understanding and lack of empathy among healthcare professionals, (ii) insufficient post-diagnostic support, with most participants reporting no follow-up care, and (iii) a complex, protracted diagnostic process, often involving waiting periods exceeding three years. Gender bias and frequent misdiagnosis were recurrent issues, contributing to significant psychological distress. These findings underscore the need for systemic reforms and align closely with gaps identified in the existing literature. Conclusions: The findings emphasise the urgent need for gender-sensitive diagnostic frameworks, enhanced professional training, and a person-centred approach to care. Key recommendations include shortening diagnostic waiting times, strengthening healthcare professionals’ knowledge base, and ensuring equitable and consistent post-diagnostic support.
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62. Xing J, Lau JCY, Nayar K, Landau E, Kumareswaran M, Grabowecky M, Losh M. Gaze-Speech Coordination During Narration in Autism Spectrum Disorder and First-Degree Relatives. Brain Sci. 2026; 16(1).
Background/Objectives: Narrative differences in autism spectrum disorder (ASD) and subtle and parallel differences among their first-degree relatives suggest potential genetic liability to this critical social-communication skill. Effective social-communication relies on coordinating signals across modalities, which is often disrupted in ASD. Therefore, the current study examined the coordination of fundamental skills-gaze and speech-as a potential mechanism underlying narrative and broader pragmatic differences in ASD and their first-degree relatives. Methods: Participants included 35 autistic individuals, 41 non-autistic individuals, 90 parents of autistic individuals, and 34 parents of non-autistic individuals. Participants narrated a wordless picture book presented on an eye-tracker, with gaze and speech simultaneously recorded and subsequently coded. Time series analyses quantified their temporal coordination (i.e., the temporal lead of gaze to speech) and content coordination (i.e., the amount of gaze-speech content correspondence). These metrics were then compared between autistic and non-autistic groups and between parent groups and examined in relation to narrative quality and conversational pragmatic language skills. Results: Autistic individuals showed reduced temporal coordination but increased content coordination relative to non-autistic individuals with no significant differences found between parent groups. In both autistic individuals, and parent groups combined, increased content coordination and reduced temporal coordination were linked to reduced narrative quality and pragmatic language skills, respectively. Conclusions: Reduced temporal and increased content coordination may reflect a localized strategy of labeling items upon visualization. This pattern may indicate more limited visual, linguistic, and cognitive processing and underlie differences in higher-level social-communicative abilities in ASD. To our knowledge, this study is the first to identify multimodal skill coordination as a potential mechanism contributing to higher-level social-communicative differences in ASD and first-degree relatives, implicating mechanism-based interventions to support pragmatic language skills in ASD.
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63. Yavas C, Abuaisha A, Nekay E, Gezdirici A, Yilmaz HI, Akbulut E, Arican P. The role of ATP9A (c.1091G > C; p.(Arg364Thr)) variant in cognitive impairment: diagnostic insight from whole exome sequencing. Mol Biol Rep. 2026; 53(1): 329.
BACKGROUND: The ATP9A gene encodes a P4-type ATPase involved in phospholipid translocation, essential for vesicular trafficking and neuronal development. Pathogenic ATP9A variants cause autosomal recessive neurodevelopmental disorders characterized by intellectual disability and microcephaly, yet the impact of missense variants remains poorly understood. METHODS: A 7-year-old female patient with cognitive impairment, microcephaly, and developmental delay was admitted to Başakşehir Çam and Sakura City Hospital. Whole exome sequencing (WES) using Illumina technology identified a novel homozygous ATP9A variant, confirmed by Sanger sequencing and segregation analysis. In silico tools (RosettaFold, DynaMut, mCSM, SDM, DUET, AggreScan3D) assessed its structural impact. Quantitative real-time polymerase chain reaction (RT-qPCR) was conducted to evaluate the relative expression levels of ATP9A. RESULTS: WES revealed a homozygous missense variant, ATP9A: NM_006045.3:c.1091G > C:p.(Arg364Thr), classified as variant of uncertain significance based on ACMG guidelines (PP2, PM2, PM3). Protein modeling demonstrated reduced stability (ΔΔG = - 1.51 to - 0.26 kcal/mol), increased flexibility, and a 2.4-fold decrease in solvent accessibility. The variant disrupted polar and hydrophobic interactions within the P-type ATPase IV domain, thereby increasing aggregation propensity. Expression analysis revealed elevated ATP9A mRNA levels, suggesting a compensatory cellular response. CONCLUSION: This novel ATP9A variant broadens the mutational spectrum of ATP9A-related neurodevelopmental disorders. Structural destabilization of the p.(Arg364Thr) protein may contribute to the patient’s cognitive impairment and microcephaly, warranting further functional studies.
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64. Yi YG, Yang S, Kim GH, Han Y, Jang DH. Development and Validation of the Korean Version of the Rett Syndrome Behavioral Questionnaire. Children (Basel). 2026; 13(1).
Background/Objectives: The Rett Syndrome Behavior Questionnaire (RSBQ) is a widely used caregiver-reported instrument for assessing behavioral and neurological features of Rett syndrome (RTT). However, a validated Korean version has not been available. This study aimed to translate the RSBQ into Korean (K-RSBQ) and to evaluate its psychometric properties in a Korean RTT population. Methods: The RSBQ was translated and back-translated using standardized procedures and refined through a Delphi process. Primary caregivers of individuals with clinically diagnosed RTT completed an online survey including the K-RSBQ and the Childhood Autism Rating Scale (CARS). Test-retest reliability was assessed in a subset of caregivers who completed the questionnaire twice within one week, and inter-rater reliability was evaluated when an additional caregiver was available. Results: Sixty-six primary caregivers participated. The K-RSBQ demonstrated high internal consistency for the total score (Cronbach’s α = 0.912) and moderate-to-high consistency across most subscales. Test-retest reliability for the total score was moderate (weighted κ = 0.594), while inter-rater reliability between primary and secondary caregivers was generally low. The hand behavior subscale showed low and non-significant test-retest reliability. The K-RSBQ total score exhibited a low-to-moderate correlation with the CARS total score, and the general mood subscale showed a moderate correlation with the CARS emotional response item. Caregivers reported minimal difficulty in understanding the questionnaire items. Conclusions: The K-RSBQ demonstrates acceptable internal consistency and test-retest reliability when administered to primary caregivers, with preliminary evidence supporting its construct validity. Although limitations exist regarding criterion validation and inter-rater agreement, the K-RSBQ represents a feasible and culturally adapted tool for assessing RTT-related behavioral features in Korean clinical and research settings.
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65. Zhang Q, Cabrera-Mendoza B, Chen Q, Davtian D, Qiu D, He J, Polimanti R. Genome-wide investigation highlights global and local pleiotropy linking neurodevelopmental disorders to acquired hearing problems. Psychol Med. 2026; 56: e32.
BACKGROUND: Neurodevelopmental disorders have been associated with hearing problems (HP) later in life, but there is limited information regarding their shared biology. METHODS: We leveraged large-scale genome-wide datasets to estimate genetic correlation (global and local), polygenic overlap, and locus-specific pleiotropy among HP, autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and Tourette syndrome (TS). Then, we investigated shared molecular functions, biological processes, and cellular components, and performed a drug-repurposing analysis to identify compounds that may target the pathogenic processes linking neurodevelopmental disorders to HP. RESULTS: We observed high genetic correlation of HP with ASD (rg = 0.22) and TS (rg = 0.22). With respect to HP-ADHD polygenic overlap, 34% of the causal variants were shared between these conditions, with only 74% of them showing concordant effect directions. We also identified nine chromosomal regions with evidence of ADHD-HP local genetic correlations with pleiotropic effects on other outcomes, such as smoking initiation, brain-imaging phenotypes, and bilirubin levels. With respect to HP-ASD, we observed an inverse local genetic correlation within CD33 chromosomal region. Pleiotropy among HP, ASD, and ADHD was also identified in two variants (rs325485 and rs2207286) included within 95% credible sets related to neuropsychiatric conditions, altered hearing function, and other traits such as risk taking and insomnia. Drug-repurposing analyses identified anisomycin for HP-ASD shared biological mechanisms and five compounds related to HP-ADHD pleiotropy. CONCLUSIONS: Our findings provide evidence that the comorbidity between neurodevelopmental disorders and HP is at least partially due to shared pathogenic processes acting through intrinsic and extrinsic factors.
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66. Zhao L, Jiang Y, Chen Z, Song Y. Neural Heterogeneity Underlying Behavioral Equivalence: A Dynamic Neuro-Decoding Study of Cognitive and Affective Empathy in Relation to Autism-Like Traits. Brain Behav. 2026; 16(2): e71236.
PURPOSE: Although empathy processing varies significantly between individuals with high and low autism-like traits (ALT), the underlying neural mechanisms remain poorly understood. This study integrated behavioral measures with electroencephalography (EEG) analyses to investigate neural processing differences between high- and low-ALT groups during cognitive and affective empathy tasks. METHOD: We assessed cognitive empathy (judging depicted emotions) and affective empathy (rating personal emotional resonance) in 40 participants (21 high-ALT and 19 low-ALT) using the Multifaceted Empathy Test while concurrently recording EEG data. Our analytical approach combined traditional behavioral analysis with multivariate pattern analysis and representational similarity analysis. RESULTS: Behaviorally, the groups showed no significant performance differences. However, their neural mechanisms diverged. During cognitive empathy, the high-ALT group exhibited inefficient early sensory processing and delayed, discontinuous neural encoding of emotion categories, suggesting reliance on late-stage compensatory processing. For affective empathy, while early automatic neural resonance was intact, the high-ALT group exhibited atypically sustained reliance on low-level sensory features and failed to form stable, integrated neural representations of emotion, unlike the low-ALT group. CONCLUSION: These findings reveal a pattern of « behavioral equivalence, neural heterogeneity. » High-ALT individuals appear to employ distinct, compensatory neural strategies to achieve typical behavioral outcomes in empathy. This highlights the value of advanced neuro-decoding in uncovering latent processing differences underlying the ALT spectrum.