Search Results (2,360)

Children with autism spectrum disorder (ASD) frequently struggle with emotion regulation, which can be influenced by parental practices and the supportive role of siblings in encouraging emotional and social development. The study aimed to examine the relationship between parenting practices and emotional regulation of children with ASD and to explore the mediating role of the prosocial behavior of siblings between parenting practices and emotional regulation in children with ASD. Additionally, this study investigated the moderating role of sibling gender in the relationship between prosocial behavior and emotional regulation. A total of 600 parents/caregivers aged 25–40 years (M = 32.91, SD = 4.23) of children with ASD were selected from special education institutes in Lahore, Pakistan, using a non-probability, purposive sampling method. Although the majority of respondents were mothers (94.5%), the term parenting practices is used to reflect a family-level caregiving construct rather than exclusively maternal behavior. Data were interpreted through IBM SPSS Statistics 23 and PROCESS macros, revealing that authoritative parenting had a significant positive relation with emotional regulation in children with ASD. Results also indicated that the prosocial behavior of siblings partially mediated the relationship between authoritative parenting and emotional regulation in children with ASD. Furthermore, sibling gender significantly moderated the indirect effect, with female siblings showing stronger facilitation of emotional regulation through prosocial behaviors compared to male siblings. Full article

This study examines the integration of affective computing within immersive environments, virtual reality (VR), augmented reality (AR), and mixed reality (MR), to support affective user experience (AUX) in individuals with autism spectrum disorder (ASD). Twenty-eight published empirical studies were analyzed following PRISMA guidelines, focusing on affective modalities, immersive technologies, methodological approaches, and intervention outcomes. Results indicate that immersive systems increasingly incorporate physiological sensing, eye-tracking, behavioral analytics, and, to a lesser extent, facial and speech recognition. Although 89% of studies rely on unimodal affective signals, emerging multimodal frameworks demonstrate enhanced adaptability and real-time emotional responsiveness. VR remains the predominant platform due to its high immersive capacity and controlled manipulation of social stimuli, while AR support interaction in everyday contexts, offering higher accessibility. Across studies, immersive affective systems show consistent benefits in emotion recognition, anxiety reduction, engagement, and social communication. However, the field is limited by small sample sizes, restricted real-world contextual relevance, and a lack of standardized AUX evaluation frameworks. This review identifies methodological gaps and proposes future research directions involving adaptive affective systems, low-cost sensors, and inclusive, longitudinal designs aimed at achieving emotionally intelligent, scalable, and context-aware immersive interventions for people with ASD. Full article

Background/Objectives: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by differences in social communications and restricted, repetitive patterns of behaviors and interests, affecting approximately 1% of children globally. While functional magnetic resonance imaging (fMRI) has provided insights into altered brain connectivity patterns in ASD, classification based on neuroimaging remains a challenging due to the heterogeneity of the disorder and variability in imaging data across sites. This study employs a network-based approach using large-scale, multi-site rs-fMRI dataset from the Autism Brain Imaging Data Exchange (ABIDE I and II) to classify ASD and healthy controls using machine learning. Methods: A semi-blind Independent Component Analysis method, specifically the spatial constraint reference ICA, is applied to identify functional brain networks, and the ComBat harmonization technique is used to address site-specific variability across 11 independent datasets, ensuring consistency in feature representation. Support Vector Machines (SVMs) are employed for classification, focusing on three key networks: the Default Mode Network (DMN), Sensorimotor Network (SMN), and Visual Sensory Network (VSN). Results: The results demonstrate high classification accuracy, with the VSN achieving the highest performance (83.23% accuracy, 87.90% AUC), followed by the DMN (81.43% accuracy, 84.53% AUC) and the SMN (80.52% accuracy, 84.96% AUC), positioned with their recognized roles in social cognition and sensory–motor processing, respectively. Conclusions: The integration of ICA-based feature extraction with ComBat harmonization significantly improved classification accuracy compared to previous studies. These findings point out the potential of network-based approaches in ASD classification and point out the importance of integrating multi-site neuroimaging data for identifying reproduceable network-level features. Full article

Autism spectrum disorder (ASD) is characterized by persistent difficulties in communication, language, and social interaction, which requires innovative strategies and resources that promote educational inclusion and personal autonomy. In this context, digital technologies have established themselves as support tools with significant potential for the communicative and linguistic development of people with ASD. The aim of this study was to conduct a systematic review of recent scientific literature on the use of digital applications aimed at developing communication and language in people with ASD. The search was carried out in the Scopus, Google Scholar, and Mendeley databases, covering the period from 2019 to 2024. The methodological criteria of the PRISMA statement were applied, resulting in a total of 61 studies that met the inclusion criteria. The results show that digital applications implemented in educational, family, and community contexts promote linguistic comprehension and expression, increase motivation and active participation, and enhance the functional autonomy of people with ASD. However, limitations were identified related to technological accessibility, specific training for teaching and therapeutic staff, and the scarcity of longitudinal studies assessing the sustained impact of these interventions. In conclusion, this review offers an up-to-date and rigorous synthesis that can guide teachers, therapists, families, and researchers in the selection and use of digital applications as inclusive resources, contributing to the strengthening of communication, social participation, and quality of life for people with ASD. Full article

Tryptophan (Trp) metabolism is involved in regulating various physiological and pathological processes, including neurological function, immune response, and gut homeostasis. This article focuses on autism spectrum disorder (ASD) and explores its relationship with abnormalities in the gut microbiota–Trp–brain axis. Studies have shown that ASD patients exhibit Trp metabolism disorders, with gut microbiota dysbiosis inducing systemic inflammation, activating indoleamine 2,3-dioxygenase 1 (IDO1), and promoting increased Trp entry into the kynurenine pathway (KP). This leads to a series of pathological changes, including the production of neurotoxic substances, serotonin system disorders, and impaired intestinal barrier function, which in turn exacerbate ASD symptoms through the gut–brain axis. Furthermore, based on preclinical and clinical studies, we have summarized that specific probiotic strains (such as Lactobacillus and Bifidobacterium) can alleviate the clinical manifestations of ASD by regulating the gut microbiota–Trp metabolic axis, improving immune responses, and enhancing intestinal barrier function. We emphasize that current probiotic interventions still face challenges such as insufficient long-term safety assessments and unclear molecular mechanisms. Future research should combine multi-omics technologies and multi-modal approaches to promote the development of personalized and precise intervention strategies. In summary, this review highlights the crucial role of tryptophan metabolism in ASD and the potential of probiotics as a novel adjunctive therapy targeting this metabolic pathway. Full article

Background: Iron plays a crucial role in neurotransmitter synthesis, myelination, and neuronal metabolism. Iron deficiency has been associated with a variety of neurodevelopmental disorders, particularly attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). However, the prevalence, clinical impact, and treatment implications differ between these conditions. Objective: To synthesize current evidence on the prevalence, neurobehavioral consequences, and therapeutic implications of iron deficiency in ADHD and ASD, highlighting convergences and disorder-specific findings. Results: In ADHD, studies using serum ferritin and related peripheral markers show inconsistent associations with core symptom severity, with reported ferritin thresholds for deficiency ranging widely. While some studies suggest links between low ferritin and hyperactivity, inattention, or stimulant response, others report null findings. In contrast, emerging neuroimaging evidence consistently demonstrates reduced brain iron in dopaminergic regions in children. In ASD, the strongest link is between low ferritin and sleep-related motor disturbances, and iron supplementation may improve sleep and motor symptoms. Conclusions: Screening for iron status and targeted supplementation may improve sleep and behavioral outcomes in ADHD and ASD, meriting integration into clinical practice and further randomized controlled trials. Full article

Background/Objectives: Increasing scientific evidence supports the importance of early diagnosis of autism spectrum disorder (ASD), followed by timely intervention, in optimizing developmental trajectories. Despite these advances, achieving an early diagnosis remains challenging, and substantial delays in the diagnostic process continue to be reported worldwide. This study aimed to describe the clinical and sociodemographic characteristics associated with early referral to a telehealth parent-mediated intervention program for infants at high likelihood for ASD, under 18 months of age, with the broader goal of informing clinical services in the field of neurodevelopmental disorders. Methods: Infants were evaluated by a multidisciplinary team using standardized measures to assess autism risk, developmental functioning, adaptive behavior, and parental stress. Potential differences in age at access to the program were examined by comparing families who were referred before versus after 12 months of age. Results: Of the 78 families who expressed interest in the program, 69 consented and 60 met eligibility criteria (male/female ratio = 40/20; mean age = 10.0 months). Families were evenly distributed across Italy, and 66% of parents held a university degree. Self-referral accounted for 62% of cases. Higher parental concern was associated with earlier referral and children referred after 12 months of age showed significantly lower developmental and adaptive functioning scores. Conclusions: These findings support the feasibility of identifying prodromes of autism within the first year of life and highlight gaps in specialized services for infants at elevated likelihood in Italy. Maternal concern and self-referral drove early consultation, underscoring the need for improved pediatric training. Future studies should assess longitudinal population-based screening and the feasibility and long-term impact of timely interventions in routine care. Full article

Background/Objectives: Autism spectrum disorder (ASD) is a heritable neurodevelopmental condition that displays heterogeneity in both presentation and etiology, and often presents with concomitant communication difficulties. The hypothesis behind the New Jersey Language and Autism Genetic Study is that genetic heterogeneity for component phenotypes of ASD may be reduced relative to the disorder as a whole. We previously published an initial phase of this study with family recruitment that used very restricted inclusion/exclusion criteria for both autism and language deficits. Here, we present an expanded sample that includes a wider range of phenotypic presentations in the autism and language domains. Methods: Bioinformatics tools focusing on variant prioritization were used to identify candidate risk genes. Results: Our previous findings on 15q and 16q, connecting ASD and oral/written communication, are only relevant to the narrow ASD and language impairment phenotypes, though addition of families did reduce both critical regions. After variant and gene prioritization, we determined a set of ten and six top candidate risk genes with a strong association with language impairment and reading impairment, respectively. The top candidate genes include both genes previously implicated in neurodevelopmental disorders (e.g., ZNF774 and DNAH3) and genes not previously reported but with strong evidence of being involved in neurodevelopmental phenotypes. Conclusions: Our analysis elucidates the genetic architecture and interaction of ASD and language-related phenotypes. In addition, we reported a number of high-confidence candidate genes within the top linkage regions. These genes will provide insights into the genetic etiology of neurodevelopmental disorders. Full article

Background/Objectives: Maternal immune activation (MIA) increases the risk of Autism Spectrum Disorders (ASD). Experimental models demonstrate that maternal exposure to bacterial endotoxin or the viral mimic polyinosinic:polycytidylic acid [poly (I:C)] reliably recapitulates ASD-like behavioral abnormalities in offspring, yet the underlying neurobiological mechanisms linking MIA to altered neurodevelopment remain incompletely understood. Increasing evidence highlights the placenta as a critical mediator in shaping fetal brain development through immunological and hormonal regulation. Likewise, disruption of placental regulatory functions upon MIA may therefore represent a mechanistic pathway. Here, we investigated how alterations in placental cytokine profiles, innate immune cell composition, and endocrine outputs relate to neuroinflammation and neurogenesis in the offspring. Methods: Pregnant mice at gestational day 12.5 received a single intraperitoneal injection of poly (I:C). Placental macrophages, neutrophils, inflammatory cytokines, and nerve growth factor (NGF) expression were examined 72 h later. Neurodevelopmental outcomes, including microglial activity and neurogenic markers, were evaluated in mouse offspring at postnatal day (P) 1 and 6. Results: MIA induced a significant accumulation of monocytes and neutrophils in the placenta, which was associated with elevated levels of a broad spectrum of inflammatory mediators, including Th17-biased proinflammatory cytokines, chemokines, and adhesion proteins, in the placenta and amniotic fluid. In contrast, the placenta-derived NGF levels were significantly reduced. MIA induced strong and sustained microglial activation in the fetal and neonatal brain. This inflammatory milieu was accompanied by disrupted cortical neurogenesis, characterized by a marked increase in Ki67+ neuronal progenitor cells (NPCs) in the subventricular zone (SVZ), overproduction of early-born Tbr1+ neurons at P1, later-born Satb2+ neurons at P6. Conclusions: Collectively, these findings suggest that heightened Th17 inflammatory signaling, coupled with impaired placental endocrine function, contributes to dysregulated cortical neurogenesis in the offspring. Full article

22q11.2 deletion syndrome (22q11.2DS) is the most common recurrent microdeletion in humans and a prototypical high-risk neurogenetic copy number variant (CNV) associated with a broad spectrum of neurodevelopmental and psychiatric disorders, including intellectual disability (ID), autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), anxiety, and psychotic symptoms. This hemizygous deletion encompasses multiple genes involved in brain development and neural circuit function, contributing to marked phenotypic variability and multisystem involvement. In pediatric populations, deficits in adaptive functioning are frequently reported and may occur independently of global intellectual impairment, reflecting broader behavioral vulnerabilities within this genetic risk architecture. Background/Objectives: This study aimed to characterize the sociodemographic, clinical, and intellectual profiles of children and adolescents with 22q11.2DS and to examine adaptive functioning and its associations with behavioral difficulties. Methods: Thirty-four patients aged 1–17 years with a confirmed molecular diagnosis of 22q11.2DS were assessed. Standardized instruments were used to evaluate cognitive performance, adaptive functioning, and behavioral outcomes. Results: Intellectual disability was highly prevalent, with most participants showing combined cognitive and adaptive impairments. Adaptive functioning was compromised across domains, with relatively higher socialization scores compared to other areas, such as daily living skills. Multivariate analyses indicated associations between sociodemographic factors and behavioral difficulties, as well as between social problems and lower global adaptive functioning. Conclusions: Together, these findings contribute to the characterization of the adaptive and behavioral phenotype associated with a high-risk neurogenetic CNV and highlight the relevance of adaptive functioning as a key outcome for early evaluation and intervention in pediatric 22q11.2DS. Full article

Background: Autism Spectrum Disorder (ASD) involves social, emotional, and behavioral challenges, and conventional therapies show limited effectiveness. Aims: To evaluate the effect of Yoga Therapy (YT) on neurophysiological regulation and behavioral functioning in individuals with ASD. Methods: Thirty-six autistic individuals, aged 6 to 25 years and with Childhood Autism Rating Scale (CARS) scores above 15, were randomly assigned to yoga (YG) and control (CG) groups. YG received 60 min YT sessions twice weekly for six months alongside a regular school routine, while CG followed only a regular school routine. Handgrip strength (HGS), visual reaction time (VRT), systolic (SBP) and diastolic (DBP) blood pressure, heart rate (HR), and CARS scores were assessed at pre-, mid-, and post-intervention. Repeated measures ANOVA and Pearson’s correlation were used for statistical analysis. Results: The study showed an increase in HGS (Δ = 3.27 kg) and a reduction in VRT (Δ = −523.86 ms) with a marked decrease in total CARS score (Δ = −5.67), p < 0.01 in YG. There was a mild, non-significant reduction in cardiovascular (CV) dysfunction in YG, while CG showed no significant changes across all measures. Conclusion: Biweekly YT sessions over six months enhanced neurophysiological regulation, improving sensorimotor integration and accelerating cognitive, emotional, and behavioral outcomes in individuals with ASD. Full article

Background/Objectives: Recent public and scientific discussions have raised concerns about a possible link between prenatal paracetamol exposure and autism spectrum disorder (ASD). However, pharmacovigilance-based evidence remains scarce, and the role of reporting bias has not been systematically assessed. This study aimed to characterize ASD-related adverse event reports involving paracetamol in the U.S. Food and Drug Administration’s Adverse Event Reporting System (FAERS) and to evaluate potential disproportionality signals, considering demographic, temporal, and geographic patterns. Methods: FAERS data from January 2010 to September 2025 were screened for reports listing paracetamol as the suspect drug and ASD-related Preferred Terms. After excluding duplicates and concomitant drugs, 1776 unique cases were analyzed. Patient demographics, reporter type, and country of origin were summarized descriptively. Disproportionality was calculated using four algorithms: Reporting Odds Ratio (ROR), Proportional Reporting Ratio (PRR), Information Component (IC), and Empirical Bayes Geometric Mean (EBGM). Results: Among 172,129 paracetamol-associated reports, 1776 (1.03%) included ASD-related terms. All were classified as serious and mostly submitted by consumers (98.6%). Gender was available in 47.7% of cases, showing male predominance (68.8%). Most reports referred to fetal exposure during pregnancy. Nearly all originated from the United States (98.4%). A marked rise was observed after 2022, with 562 reports in 2023 and 1051 in 2025. Disproportionality analyses revealed consistently elevated signals (ROR = 69.8, PRR = 69.2, IC025 = 5.60, EB05 = 48.3). Conclusions: The strong disproportionality signal likely reflects increased public attention and reporting dynamics rather than a causal association. Further integration of pharmacovigilance and epidemiologic data is warranted to clarify the clinical significance of these findings. Full article

Bidirectional communication between the central nervous system and the immune system is crucial for brain function, particularly in regulating neuroplasticity: on the one hand, glial cells modulate neuronal function, brain circuitry, axon myelination, dendritic spine architecture, and information processing, while on the other hand, neuronal activity can alter the immune response. Neuroinflammation and dysregulation of astroglia and microglia can be detrimental to brain development and function. In particular, maladaptive responses and chronic glial activation have been correlated to synaptic dysfunction in diverse brain conditions. In the present review, we will provide a general introduction to the main players of the neuroimmune response and their ability to modulate neuroplasticity, followed by a comprehensive overview of experimental evidence linking the dysregulation of immune mediators to the disruption of synaptic plasticity in neurodegenerative and neurodevelopmental disorders, with a specific focus on Alzheimer’s disease, Parkinson’s disease, and autism spectrum disorder. Full article

In recent years, there has been increasing interest in the study of the gut–brain axis. Furthermore, there appears to be a relationship between abdominal pain, selective eating patterns, emotional instability, and intestinal disorders in Autism Spectrum Disorder (ASD). This work describes the development and accessibility evaluation of the INCE mobile app. This mobile app allows users to obtain levels of gut–brain interaction severity using two scientifically proven scales: The Gastrointestinal Symptom Severity Scale (GSSS) and the Pain and Sensitivity Reactivity Scale (PSRS). The validity of both instruments was established in previous studies in neurotypical and autistic populations. Statistically significant improvements were found following post-design changes in the use and accessibility of the INCE app (.NET Maui 9 Software) reported by professionals (p = 0.013), families (p = 0.011), and adolescents (p = 0.004). INCE represents an important contribution to evidence-based applications and clearly translates into society. Full article

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. Full article