Search Results (4,102)

Neonatal hypoxic ischemic encephalopathy (HIE) is a common birth complication that can cause death or lifelong disabling conditions like cerebral palsy, epilepsy, and autism. It is well established that maternal infection and inflammation are significant risk factors for HIE but reasons for this increase in neurological risk to the offspring remain unknown. Inflammation or infection are associated with epigenetic changes and may contribute to the increased risk of neurodevelopmental disability in exposed offspring. Here, we analyzed and compared DNA methylation patterns in brain monocytes isolated from control, maternal immune activation (MIA), and an inflammation sensitized HIE (IS-HIE) CF-1 mouse model at postnatal day 7. We found that maternal inflammation induced significant methylation differences in neonates relative to control samples in both MIA and IS-HIE samples with no significant differences identified between the MIA and IS-HIE groups. MIA samples showed hypermethylation at loci involving craniofacial development and transcription factors important for regulating neurodevelopment and immune function. MIA samples also demonstrated significant hypermethylation at multiple mitochondrial genome CpGs. These findings suggest that maternal inflammation induces epigenetic alterations in fetal brain immune cells that are detectable in neonates. These changes may contribute to heightened neurodevelopmental risk in offspring following hypoxic injury, highlighting potential molecular pathways for future therapeutic targeting. Full article

Autism Spectrum Disorder (ASD) is a lifelong condition marked by challenges in social communication and repetitive behaviors. Current treatments, primarily behavioral therapies, often fail to address the core symptoms. Recent research has explored the potential of psychedelics, such as LSD, psilocybin, and MDMA, as a new therapeutic approach. While these substances primarily modulate the serotonin 5-HT_2A receptor, their therapeutic effects also involve interactions with other serotonergic, dopaminergic, and glutamatergic pathways, collectively promoting neuroplasticity—the brain’s ability to change and adapt. The specific receptors’ activation leads to structural and functional changes in the brain that can enhance social behavior and emotional regulation. Studies show that psychedelics may reduce symptoms of conditions like treatment-resistant depression and PTSD, highlighting their therapeutic potential. For ASD specifically, psychedelics may improve psychological flexibility, reduce distress, and enhance social interaction. While promising, the use of these substances requires careful consideration. Psychedelics can induce intense experiences and altered states of consciousness, necessitating strict monitoring and support during therapy. Ethical guidelines, including informed consent, are crucial, especially for vulnerable populations. In conclusion, psychedelics hold significant promise for treating ASD and other psychiatric disorders by promoting neuroplasticity and modulating complex signaling pathways. Continued research and clinical trials, conducted with strong ethical oversight, are essential to realizing their full therapeutic potential. Full article

This study presents a systematic review and an integrative interpretive synthesis of the architectural literature addressing sensory–interactive design strategies in early childhood learning environments that support children with Autism Spectrum Disorder (ASD), Down Syndrome (DS), and Attention Deficit Hyperactivity Disorder (ADHD). Following a systematic review conducted in accordance with PRISMA 2020 guidelines, twenty-nine peer-reviewed studies were analyzed to examine how environmental design variables may influence sensory load, cognitive processing, emotional stability, and behavioral engagement across neurodevelopmental profiles. Rather than remaining within conventional descriptive approaches, architectural variables—including lighting, color, acoustics, materials, spatial configuration, and environmental controllability—are reconceptualized as regulatory dimensions shaping child–environment interactions. The synthesis suggests that identical environmental variables may elicit divergent, and at times conflicting, sensory–emotional and behavioral responses among children with ASD, DS, and ADHD, highlighting the limitations of standardized design solutions. Accordingly, the study proposes the Sensory–Interactive Architecture Framework (SIAF), an analytical framework that links neurodevelopmental response patterns with sensory–emotional regulation mechanisms and environmental design variables as regulatory dimensions. The findings indicate that effective inclusive design does not rely on generalized sensory interventions but rather on the deliberate regulation of sensory variability through more legible, graded, and controllable spatial systems, thereby promoting learning engagement, emotional stability, and adaptive behavior in neurodiverse children. Full article

Introduction: Persons diagnosed with Autism Spectrum Disorder (ASD) require adaptations to dental care that many undergraduate programmes may not explicitly treat. This cross-sectional pilot study assessed the extent of ASD-related content in Australia and New Zealand (ANZ) dental and oral health curricula and explored Oral Health Therapy students’ knowledge and self-efficacy. Methods: Online surveys of academic staff across ANZ programmes and Bachelor of Oral Health Therapy students at the University of Newcastle were conducted. Quantitative data was summarised descriptively, and free text responses underwent thematic analysis. Results: Fifteen educator responses (8% of 178 invitees) suggest limited ASD-specific teaching and minimal use of simulation-based education. Among 38 student responses (from one institution), knowledge was generally foundational, but misconceptions persisted and no respondents reported high confidence in providing oral health care for Autistic patients. Interest in further training was high. Conclusions: Within the constraints of low response rates and a single institution student sample, these preliminary findings suggest opportunities to strengthen Autism-related teaching, particularly sensory adaptations, communication strategies, and experiential learning. Inferences should be considered exploratory and hypothesis generating. Limitations: Low educator responses and potential response bias due to limited external validity from a single student cohort. Full article

Long-chain polyunsaturated fatty acids (LC-PUFAs) of omega-3 family, particularly docosahexaenoic acid and eicosapentaenoic acid, are essential nutrients that play a critical role in children’s growth and health. This review examines the evidence on the effects of omega-3 supplements and omega-3-enhanced foods on children’s development, as well as on neurological and metabolic disorders. Research consistently highlights the importance of DHA in brain and visual development, especially during early childhood, when rapid neural growth occurs. PubMed, Web of Science, Scopus and the Cochrane Library databases were searched for relevant articles published up to January 2026. Adequate omega-3 intake has been associated with improvements in cognitive performance, attention, and learning outcomes. In children with neurodevelopmental conditions such as attention-deficit/hyperactivity disorder and autism spectrum disorder, omega-3 supplementation shows modest but potential benefits in reducing behavioral symptoms and supporting executive function, although results remain mixed. Additionally, omega-3 fatty acids exhibit anti-inflammatory properties that may positively influence metabolic health, including lipid profiles, insulin sensitivity, and obesity-related risk factors in children. Omega-3-enhanced foods provide an alternative to supplements and may improve adherence and overall dietary quality. However, variability in dosage, study design, and baseline nutritional status limits definitive conclusions. Overall, omega-3 fatty acids appear to support healthy development and may aid in managing certain neurological and metabolic disorders in children. Full article

Background: TNRC6B encodes a core effector of the RNA-induced silencing complex and is essential for miRNA-mediated gene silencing. Pathogenic variants in TNRC6B have recently been associated with a neurodevelopmental disorder characterised by developmental delay, intellectual disability, and behavioural difficulties. Methods: We report a three-generation family with a 22q13.1 deletion encompassing only exons 2–23 of TNRC6B. Clinical data were collected from medical records and family interviews, and the findings were compared with those of published cohorts. Results: Affected individuals presented with developmental delay, speech and language impairment, autism spectrum disorder, ADHD, oppositional defiant disorder, craniosynostosis, joint laxity, clinodactyly, and cardiac valve anomalies. The father and paternal grandmother had learning difficulties and neurobehavioral features, while the proband exhibited a more severe phenotype. Conclusions: This report expands the phenotypic spectrum of TNRC6B-related neurodevelopmental disorder, highlighting craniosynostosis, joint and connective tissue features, and cardiac involvement. Our findings also underscore variable expressivity across generations and emphasise the relevance of both copy-number and sequence variants in TNRC6B in patients with neurodevelopmental disorders. Full article

Background: Developing physical literacy in children with developmental disabilities (DDs) is essential to fostering their participation in physical activity. According to the Canadian Framework, physical literacy encompasses multiple interrelated components (behavioral, physical, affective, and cognitive). Such engagement provides numerous benefits, including reduced symptoms of anxiety and depression, as well as improved functional and cognitive health. However, children with DD appear to be less active than those without such conditions. Since individuals who are active during childhood and adolescence are more likely to remain active during adulthood, it becomes crucial to better understand how to support the physical literacy development of children with DD, hence enhancing their participation in physical activity. In addition, children with DD remain underrepresented in the literature, particularly with regard to their opportunities to develop their physical literacy and their varied needs, such as limited physical activity options. Objective: The aim of this scoping review was to identify and analyze the existing literature on the development of physical literacy and physical activity participation in young children (0–6 years) with DD. Methods: Four databases were searched (PsycInfo: n = 722; MEDLINE: n = 997; ERIC: n = 514; CINAHL: n = 771), and 25 articles were retained. Characteristics of these studies were analyzed quantitatively, while their scope was analyzed according to physical literacy components. Results: Most studies (80%) used a quantitative method, and nearly half (44%) concerned young children with autism spectrum disorder. A little more than half of the studies (52%) focused on early intervention programs. In regard to the scope of the studies, none addressed the cognitive component of physical literacy, indicating a lack in the current literature, and more than half provided information on how to support the affective component. Moreover, information regarding parents’ involvement in physical activity of children with DD emerged from six studies analyzed. Conclusions: The results yield interesting insights on how to support the physical literacy development of children with DD and the factors likely to influence their physical activity participation. Early intervention programs promoting physical literacy could be promising avenues to support lifelong physical activity habits for these children. Full article

Background/Objectives: Microtia, a congenital ear malformation ranging from mild anomalies to anotia, imposes a psychosocial burden, yet its link to pediatric psychiatric disorders in population-based settings is understudied. Methods: This study included 6048 patients with microtia and a control cohort of 120,960 age- and sex-matched participants from the Korean National Health Insurance database. The incidence of overall psychiatric disorder events was compared between the microtia and control cohorts. Results: Compared with the control cohort, the incidence rate ratio (IRR) in patients with microtia was 1.16 (95% CI, 1.05–1.29) for overall psychiatric disorders, 5.35 (95% CI, 4.56–6.27) for hyperkinetic disorder (HKD), and 9.67 (95% CI, 5.49–17.03) for autism. After adjusting for age group, sex, and socioeconomic status, microtia was associated with an increased risk of overall psychiatric disorders, HKD, and autism. Subgroup analyses revealed an elevated risk of overall psychiatric disorders among individuals aged 5 to 14 years, males, and those with low or high socioeconomic status. Ear reconstruction surgery was associated with a lower risk of HKD among patients aged 10 to 14 years, females, and those with low socioeconomic status. The observed association between ear reconstruction surgery and lower HKD risk in these specific subgroups warrants further investigation using study designs capable of establishing causal inference. Conclusions: Microtia is associated with an increased risk of psychiatric disorders in pediatric and adolescent populations, with particularly pronounced risks for HKD and childhood autism. These findings underscore the importance of early psychiatric screening in children with microtia. Full article

Background: Hippotherapy, a sensorimotor-rich intervention proposed for children with Autism Spectrum Disorder (ASD), is suggested to influence executive function (EF). However, the underlying electrophysiological mechanisms, particularly changes observed in resting-state Electroencephalography (EEG), remain underexplored. Methods: A total of forty-eight children with ASD, aged 9–12 years, participated in this quasi-experimental, non-randomized pre-test–post-test study. Participants were assigned to either a standardized 12-session hippotherapy program (n = 24) or a waitlist Control group (n = 24). EF was evaluated pre- and post-intervention using validated measures: the Wisconsin Card Sorting Test, Stroop Color–Word Test, Corsi Block-Tapping Task, and Tower of London. Resting-state EEG data (19 channels, 250 Hz) were recorded before and after the intervention and analyzed for spectral power, pairwise Pearson correlation, phase-based functional connectivity using the Phase Lag Index (PLI), and directed effective connectivity using Phase Transfer Entropy (PTE). EEG effects were tested with linear mixed models in MATLAB (fitlme), with the measured values in each ROI as the dependent variable, group and time as fixed effects, and SubjectID included as a random intercept; EF outcomes were analyzed with ANCOVA/MANCOVA, adjusting post-test scores for baseline. The assumptions of homogeneity of slopes, Levene’s test, and the Shapiro–Wilk test were examined, and the Holm–Bonferroni correction together with partial η² effect sizes were reported. Results: Following baseline adjustment, the hippotherapy group showed substantial and statistically significant improvements across all EF measures compared with controls partial η² range = 0.473–0.855; all adjusted p < 0.001; e.g., Stroop Incongruent Reaction Time (F(1,45) = 265.80, p < 0.001, ηp² = 0.855). EEG analyses revealed localized Group × Time interaction effects involving frontal delta power as well as selected alpha-, theta-, and beta-band connectivity measures within frontally anchored networks. In addition to these focal interaction effects, the hippotherapy group exhibited a narrower distribution of pre–post EEG changes across spectral power and connectivity metrics compared with controls, indicating greater temporal consistency in resting-state electrophysiological dynamics across sessions. Because group allocation was non-random (based on scheduling feasibility and parental preference), results should be interpreted as associations rather than causal effects. While the hippotherapy group exhibited significant EF improvements and relative stabilization in EEG spectral and connectivity metrics, particularly in frontal delta/theta/alpha/beta bands, a direct mapping between individual EEG changes and behavioral gains was not observed. Conclusions: A standardized 12-session hippotherapy program was associated with substantial improvements in EF and with relative stabilization of resting-state electrophysiological dynamics in children with ASD. However, the direct mechanistic link between these EEG and behavioral changes warrants further investigation. Larger randomized trials employing active control conditions, task-evoked electrophysiological measures, and extended longitudinal follow-up are needed to confirm efficacy, clarify mechanisms, and establish the durability of effects. Full article

Background/Objectives: Recently, a randomized clinical trial evaluated whether a six-month probiotic administration could reduce symptom severity in preschool children with Autism Spectrum Disorders (ASD), with (GI) or without (NGI) gastrointestinal symptoms. Significant positive changes were observed only in NGI children. A second explorative study on children prior to intervention identified a fecal metabolome fingerprint associated with ASD severity. Building on these findings, the present study aimed to assess whether metabolomics could monitor changes in ASD severity following probiotic administration using a subset of samples from the same trial. Second, this study aimed to identify fecal metabolites to be monitored in children to predict whether their autism severity may decrease after probiotic or placebo treatment. Methods: Evaluations of the fecal metabolome and microbiota could be completed on 57 children before and after a double-blind administration of a probiotic mixture or a placebo. Results: In NGI children the probiotic was found to influence the concentration of the amino acids aspartate, leucine, tryptophan, and valine, together with nicotinate and the short chain fatty acids acetate, butyrate, isobutyrate, and propionate. Lactobacilli and Sutterella showed significant changes in response to probiotic administration (p < 0.05). Acetate, 4-hydroxyphenyl, galactose, proline, and tyramine were identified as key fecal metabolites for prediction purposes. Conclusions: The present exploratory analysis, despite the small sample size, suggests that fecal metabolomics may provide a useful approach for monitoring and potentially for predicting changes in ASD severity following probiotics administration. Full article

Background: Pathogenic variants in the NEXMIF gene have been linked to a broad neurodevelopmental phenotype, encompassing autism spectrum disorder, intellectual disability, and epilepsy. Among epileptic manifestations, Jeavons Syndrome was observed in 24% of affected females in the largest cohort of NEXMIF-related disorders reported to date, but long-term adult outcomes remain poorly documented. Methods and Results: We report a 25-year-old Italian woman with drug-resistant Jeavons syndrome in which the combined approach of next-generation sequencing and chromosomal microarray analysis allowed us to identify, after a 13-year diagnostic odyssey, a de novo ~350 Kb microdeletion at Xq13.2q13.3 encompassing the entire NEXMIF coding region, with no other OMIM genes involved. To our knowledge, this is the first reported case of a patient harboring a deletion restricted to the entire coding sequence of the NEXMIF gene. The patient presented with moderate intellectual disability and seizure onset at age 10 years. Her epilepsy proved refractory to multiple antiseizure medications. Video-EEG/polygraphic monitoring at age 23 years confirmed epilepsy with eyelid myoclonia, demonstrating characteristic eyelid myoclonia with absences triggered by eye closure. Conclutions: This case provides a detailed clinical description of an adult patient useful for genetic counseling regarding adult outcomes and prognostic expectations. Furthermore, this study underscores the diagnostic value of chromosomal microarray analysis alongside next-generation sequencing in individuals with intellectual disability and drug-resistant epilepsy, in order to expedite the diagnostic pathway and enable timelier and more appropriate patient management. Full article

Background and Objectives: While the effectiveness of video modeling (VM) in teaching academic, daily living, and social skills to individuals with Autism Spectrum Disorder (ASD) is frequently investigated, studies examining the use of VM in teaching gymnastics-based motor skills are limited. This study aimed to examine the effects of VM on the acquisition and maintenance of a gymnastics-based motor skills in preschool children with ASD. Methods: The study employed a multiple-probe method across participants in a single-subject research design. Three preschool children diagnosed with mild ASD participated in this study. Baseline, intervention, and follow-up data were systematically collected and analyzed. Social validity data were obtained through semi-structured interviews with parents and special education teachers. Results: The percentage of correct responses increased throughout the VM intervention sessions, and all participants reached the proficiency criterion. Follow-up data collected after the intervention showed that the acquired skill was maintained, and the percentages of correct responses ranged from 80% to 100%. Social validity findings revealed that both teachers and parents perceived VM as an effective and feasible teaching approach for teaching motor skills to children with ASD. Conclusions: The research findings demonstrate that VM is an effective and socially valid teaching method for teaching and maintaining gymnastics-based motor skills in preschool children with ASD. These results contribute to the existing literature by demonstrating the applicability of video modeling in the context of gymnastics-based training. Full article

Objective biomarkers for neurodevelopmental disorders remain an unmet clinical need. The electroretinogram (ERG), a non-invasive recording of the retinal response to light, has shown promise as a physiological marker for autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD), yet existing classification approaches based on time-domain and time–frequency features achieve limited accuracy in clinically relevant multi-group scenarios. This study introduces ERG-Graph, a novel graph signal processing (GSP) framework that transforms each ERG waveform into a weighted, undirected graph through amplitude quantization and temporal-adjacency connectivity. Nine topological and spectral features, including total load centrality, clique number, algebraic connectivity, and clustering coefficient, were extracted from each graph to characterize the structural dynamics of the signal. Using light-adapted ERG recordings from 278 participants (ASD = 77, ADHD = 43, ASD + ADHD = 21, Control = 137), we evaluated these features across binary, three-group, and four-group classification scenarios using seven machine learning classifiers with 10-fold subject-wise cross-validation. The proposed ERG-Graph features achieved balanced accuracies of 0.91 (ASD vs. control, males) and 0.88 (ADHD vs. control, females). Critically, fusing ERG-Graph with time-domain features yielded a balanced accuracy of 0.81 for three-group classification (ASD vs. ADHD vs. control), representing an 11-percentage-point improvement over the previous benchmark of 0.70. Statistical analysis confirmed significant topological differences between groups (Kruskal–Wallis, p < 0.001; Cliff’s delta: large effect sizes), and SHAP analysis revealed that graph-theoretic features dominated the top-ranked predictors. These results demonstrate that graph-based topological features capture discriminative information in the ERG waveform that is inaccessible to conventional signal analysis methods, advancing the development of objective biomarkers for neurodevelopmental disorder screening. Full article

Children with Autism Spectrum Disorder (ASD) frequently exhibit marked impairments in nonverbal communication, particularly in eye contact, which serves as a foundational element for social interaction and relational development. This study evaluated the effectiveness of an early intervention program utilizing interactive games supported by Augmented Reality (AR) technology to enhance eye contact behaviors, specifically initiation and maintenance, in children with autism. Using a multiple baseline across participants single-case experimental design, four boys (aged 5–7 years) diagnosed with ASD participated in an 8-week intervention at a specialized center in Saudi Arabia. The intervention featured tablet-based, gamified AR tasks incorporating real-time visual feedback, graduated difficulty levels, and reinforcement mechanisms designed to elicit social gaze and sustained eye contact. Eye contact duration and frequency were measured during structured social interactions via systematic direct observation. The results demonstrated significant improvements across all participants, with the mean duration of eye contact increasing from a baseline of 2.0 s to 5.8 s post-intervention. Visual analysis revealed robust treatment effects, further supported by substantial Tau-U effect sizes (range = 0.89–0.96; M = 0.93). Follow-up data collected three weeks post-intervention confirmed the maintenance of gains for three of the four participants. These findings suggest that AR-based interventions provide an effective and culturally responsive approach for enhancing specific nonverbal communication behaviors among children with autism in Middle Eastern contexts. Implications for clinical practice and directions for future research are discussed. Full article