Search Results (3,550)

Family empowerment is a key component of effective family-centered practices in healthcare, mental health, and educational services. The Family Empowerment Scale (FES) is the most commonly used instrument to evaluate empowerment in families raising children with emotional, behavioral, or developmental disorders. Despite its importance, the FES for diverse populations, especially Latinx parents, has rarely been evaluated using innovative psychometric approaches. In this study, we evaluated key dimensions and psychometric evidence of the Family Empowerment Scale (FES) for 96 Latinx parents of children with intellectual and developmental disabilities (IDD) in the United States using an exploratory graph analysis (EGA). The EGA identified a five-dimensional structure, and EGA models outperformed the original CFA 3-factor models for both parents of children with autism and other disabilities. This study identified distinct, meaningful dimensions of empowerment that reflect both shared and unique empowerment experiences across two Latinx parent groups. These insights can inform the design of culturally responsive interventions, instruments, and policies that more precisely capture and boost empowerment in Latinx families. This study contributes to closing a gap in the literature by elevating the voices and experiences of Latinx families by laying the groundwork for more equitable support systems in special education and disability services. Full article

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with early-life origins. Maternal obesity has been associated with increased ASD risk, yet the mechanisms and timing of susceptibility remain unclear. Using a mouse model combining in vitro fertilization (IVF) and embryo transfer, we separated the effects of pre-conception and gestational obesity. We found that maternal high fat diet (HFD) exposure prior to conception alone was sufficient to induce ASD-like behaviors in male offspring—including altered vocalizations, reduced sociability, and increased repetitive grooming—without anxiety-related changes. These phenotypes were absent in female offspring and those exposed only during gestation. Cortical transcriptome analysis revealed dysregulation and isoform shifts in genes implicated in ASD, including Homer1 and Zswim6. Whole-genome bisulfite sequencing of hippocampal tissue showed hypomethylation of an alternative Homer1 promoter, correlating with increased expression of the short isoform Homer1a, which is known to disrupt synaptic scaffolding. This pattern was specific to mice with ASD-like behaviors. Our findings show that pre-conceptional maternal obesity can lead to lasting, isoform-specific transcriptomic and epigenetic changes in the offspring’s brain. These results underscore the importance of maternal health before pregnancy as a critical and modifiable factor in ASD risk. Full article

Autism Spectrum Disorder (ASD) is frequently accompanied by gastrointestinal disturbances, dietary selectivity, and altered stress responses, with growing evidence pointing to gut–brain axis involvement. While intestinal microbiota has been extensively studied, the role of the oral microbiota remains underexplored. This study investigates the associations between oral microbiota composition and behavioral, gastrointestinal, dietary, and neuroendocrine parameters in children with ASD. A total of 45 children aged 2–18 years comprised the study group. Data collection included oral swabs for 16S rRNA gene sequencing, salivary cortisol sampling, dietary records, and standardized behavioral assessments using the Vineland Adaptive Behavior Scale. A total of 363 microbial species across 11 phyla were identified. Significant correlations were observed between specific bacterial taxa and functional gastrointestinal disorders (FGIDs), dietary patterns, salivary cortisol rhythms, and functioning. Children with FGIDs, food selectivity, or macronutrient imbalances exhibited enriched pro-inflammatory taxa (e.g., Selenomonas, Megasphaera), whereas those with typical cortisol secretion or higher adaptive functioning showed greater microbial diversity and abundance of health-associated genera (e.g., Bifidobacterium dentium). These findings suggest that oral microbiota profiles may reflect systemic physiological and neurobehavioral traits in children with ASD. Further longitudinal studies are needed to clarify causal relationships and support the development of microbiota-targeted interventions. Full article

Background: Autism spectrum disorder (ASD) represents a neurobiological disorder with a high prevalence in the children’s population. The aim of the present review was to assess the current evidence on the use of salivary biomarkers for the early diagnosis of ASD. Materials and methods: A search was conducted on the electronic databases PUBMED/Medline, Google Scholar and Scopus for the retrieval of articles concerning the study topic. Results: A total of 22 studies have been included in the present review considering 21 articles identified from databases and 1 article included using a manual search. A wide range of biomarkers have been proposed for early detection of ASD diseases including nonspecific inflammation markers like interleukin-1β (IL-1β), interleukin-6 (IL-6), interleukin-8 (IL-8), tumor necrosis factor α (TNFα), oxidative stress markers like superoxide dismutase and glutathione peroxidase, hormones such as cortisol and oxytocin, various microRNAs including miR-21, miR-132 and miR-137, and exosomes. The techniques used for biomarke detection may vary according to molecule type and concentration. Conclusions: salivary biomarkers could represent a potential useful tool for the primary detection of several systemic diseases including ASD, taking advantage of non-invasiveness and cost-effective capability compared to other biofluid-based diagnostic techniques. Full article

Background/Objectives: There is a growing need for autism spectrum disorder (ASD) assessment tools that are diagnostically aligned, clinically usable, and accessible across diverse service contexts. The Diagnostic Autism Spectrum Interview—Version 2 (DASI-2) is a freely available, semi-structured clinical interview mapped directly to DSM-5 and ICD-11 criteria. This pilot study aimed to adapt DASI-2 into Hungarian and explore the (1) acceptability of DASI-2 administration, (2) agreement with prior clinical ASD diagnoses, and (3) relationship between DASI-2 observational ratings and ADOS-2 classifications. Methods: Following a multistep translation procedure, DASI-2 was administered to seven children previously assessed for ASD in a multidisciplinary Hungarian clinical setting. The assessment included a parent interview, direct assessment with the child or young person, and completion of the DASI observational record (OR1–OR4). DASI diagnostic outcomes were compared with prior clinical decisions, and OR scores were analyzed in relation to ADOS-2 classifications. Results: All participants completed the DASI-2 interview in full. Agreement with prior clinical diagnosis was found in six of seven cases (κ = 0.70, indicating substantial agreement). When exploring the one non-aligned case, the divergence in diagnostic outcome was due to broader contextual information considered by the initial clinical team which influenced clinical opinion. The five participants diagnosed with ASD showed substantially higher DASI observational scores (mean = 15.26) than the two who were not diagnosed (mean = 1.57), mirroring ADOS-2 severity classifications. Conclusions: These findings support the acceptability and preliminary validity of DASI-2. Its inclusive structured observational record may provide a practical complement to resource-intensive tools such as the ADOS-2; however, further validation in larger and more diverse samples is needed. Full article

Individuals with autism spectrum disorder (ASD) have deficits in social–emotional competence. Most people with ASD have difficulties in emotion recognition, emotion understanding, emotion expression, and emotion regulation, which seriously affects their normal social communication and interaction. The information technology (IT) era has given more possibilities for intervention training for people with ASD, and research has proven that technological interventions have a significant effect on the socio-emotional competence of people with ASD. This study employed a meta-analytic approach using 32 independent effect sizes from 25 studies to investigate the effects of IT interventions on socio-emotional competence in individuals with ASD, using emotion recognition, understanding, expression, and regulation as dependent variables and examining key moderating factors. The results found that information technology has an excellent effect on social–emotional competence in ASD (Hedges’ g = 0.897, CI = 0.676, 1.117, z = 7.967, p < 0.001) and is significantly moderated by the intervention technique (Q = 7.392, p = 0.025) and the intervener (Q = 4.933, p = 0.026). The findings provide insights into further deepening information technology intervention research as well as practical applications. Full article

Schizophrenia (SZ) is a complex neuropsychiatric disorder characterized by heterogeneous symptoms, relatively poor clinical outcome, and widespread disruptions in neural connectivity and oscillatory dynamics. This article attempts to review current evidence linking genomic and proteomic alterations with aberrant neural oscillations observed in SZ, including aberrations in all oscillatory frequency bands obtained via human EEG. The numerous genes discussed are mainly involved in modulating synaptic transmission, synaptic function, interneuron excitability, and excitation/inhibition balance, thereby influencing the generation and synchronization of neural oscillations at specific frequency bands (e.g., gamma frequency band) critical for different cognitive, emotional, and perceptual processes in humans. The review highlights how polygenic influences and gene–circuit interactions underlie the neural oscillatory and connectivity abnormalities central to SZ pathophysiology, providing a framework for future research on common genetic-neural function interactions and on potential therapeutic interventions targeting local and global network-level neural dysfunction in SZ patients. As will be discussed, many of these genes affecting neural oscillations in SZ also affect other neurological disorders, ranging from autism to epilepsy. In time, it is hoped that future research will show why the same genetic anomaly leads to one illness in one person and to another illness in a different person. Full article

Art therapy serves as a crucial intervention modality for children with autism spectrum disorder (ASD), demonstrating unique value in emotional expression, sensory integration, and social communication. However, current practice presents critical challenges, including the disconnect between design expertise and clinical needs, unclear mechanisms of environmental factors’ impact on therapeutic outcomes, and insufficient evidence-based support for technology integration. Purpose: This study aimed to construct an evidence-based theoretical framework for art therapy environment design for children with autism, clarifying the relationship between environmental design elements and therapeutic effectiveness. Methodology: Based on the Web of Science database, this study employed a dual-track approach comprising bibliometric analysis and micro-qualitative content analysis to systematically examine the knowledge structure and developmental trends. Research hotspots were identified through keyword co-occurrence network analysis using CiteSpace, while 24 representative design cases were analyzed to gain insights into design concepts, emerging technologies, and implementation principles. Key Findings: Through keyword network visualization analysis, this study identified ten primary research clusters that were systematically categorized into four core design elements: sensory feedback design, behavioral guidance design, emotional resonance design, and therapeutic support design. A responsive therapeutic environment conceptual framework was proposed, encompassing four interconnected components based on the ABC model from positive psychology: emotional, sensory, environmental, and behavioral dimensions. Evidence-based design principles were established emphasizing child-centeredness, the promotion of multisensory expression, the achievement of dynamic feedback, and appropriate technology integration. Research Contribution: This research establishes theoretical connections between environmental design elements and art therapy effectiveness, providing a systematic design guidance framework for interdisciplinary teams, including environmental designers, clinical practitioners, technology developers, and healthcare administrators. The framework positions technology as a therapeutic mediator rather than a driver, ensuring technological integration supports rather than interferes with children’s natural creative impulses. This contributes to creating more effective environmental spaces for art therapy activities for children with autism while aligning with SDG3 goals for promoting mental health and reducing inequalities in therapeutic access. Full article

Fragile X syndrome (FXS) is the most common form of X-linked intellectual disability (ID). This study aimed to share 30 years of experience in diagnosing FXS and determine its frequency in Thailand. We retrospectively reviewed 1480 unrelated patients (1390 males and 90 females) with ID, developmental delay, or autism spectrum disorder, or individuals referred for FXS DNA testing at Songklanagarind Hospital, Thailand, over a 30-year period. The samples were analyzed using cytogenetic methods, PCR-based techniques, and/or Southern blot analysis. Full mutations (>200 CGG repeats) were identified in 100 males (7.2%) and three females (3.3%). An intermediate allele was detected in one male, while no premutation was found in the index cases. Two males were suspected to have FMR1 gene deletions. Twelve families underwent prenatal testing during this study. Most families undergoing prenatal FXS diagnosis involved mothers who were premutation carriers and had given birth to children affected by FXS. This study represents the largest series of molecular genetic FXS testing cases reported in Thailand. The frequency of FXS identified in different cohorts of Thai patients across various periods was approximately 7%. This study enhances public awareness of at-risk populations and highlights the importance of prenatal testing and genetic counseling for vulnerable families. Full article

Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are neurodevelopmental disorders with lifelong functional implications. Their potential role as emerging risk factors for cardiovascular diseases (CVDs) is increasingly acknowledged. The aim of this study was to conduct a comprehensive evaluation and meta-analysis of Mendelian Randomization (MR) studies exploring the causal effects of ADHD and ASD on various cardiovascular outcomes and vice versa. Three databases were searched, study quality was evaluated using a STROBE-MR checklist, and relevant data were extracted. In total, 14 studies revealed genetic associations between ADHD or ASD susceptibility and selected CVDs and vice versa. Notably, genetic markers for ADHD were linked to an increased risk of coronary artery disease, heart failure, and various types of stroke. Genetic predisposition to ASD raised the likelihood of atrial fibrillation and heart failure. Atrial fibrillation showed a causal relationship with elevated ADHD risk. Interestingly, hypertension was not associated with ADHD or ASD at the genetic level. Further efforts are needed to fully elucidate the basis of causal links from a mechanistic perspective. Overall, the results highlight the need for cardiovascular risk assessment and management in the clinical care of individuals with ADHD and ASD. Full article

Background/Objectives: Autism spectrum disorder (ASD) has been extensively studied through neuroimaging, primarily focusing on grey matter and more in children than in adults. Studies in children and adolescents fail to capture changes that may dampen with age, thus leaving only changes specific to ASD. While grey matter has been the primary focus, white matter (WM) may be more specific in identifying the particular biological signature of the neurodiversity of ASD. Diffusion tensor imaging (DTI) is the more appropriate tool to investigate WM in ASD. Despite being introduced in 1994, its application to ASD research began in 2001. Studies employing DTI identify altered fractional anisotropy (FA), mean diffusivity, and radial diffusivity (RD) in individuals with ASD compared to typically developing (TD) individuals. Methods: We systematically reviewed literature on 21 May 2025 on PubMed using the following strategy: (“autism spectrum”[ti] OR autistic[ti] OR ASD[ti] OR “high-functioning autism” OR Asperger*[ti] OR Rett*[ti]) AND (DTI[ti] OR “diffusion tensor”[ti] OR multimodal[ti] OR “white matter”[ti] OR tractograph*[ti]). Our search yielded 239 results, of which 26 were adult human studies and eligible. Results: Analysing the evidence, we obtained regionally diverse WM alterations in adult ASD, specifically in FA, MD, RD, axial diffusivity and kurtosis, neurite density, and orientation dispersion index, compared to TD individuals, mostly in frontal and interhemispheric tracts, association fibres, and subcortical projection pathways. These alterations were less prominent than those of children and adolescents, indicating that individuals with ASD may improve during brain maturation. Conclusions: Our findings suggest that white matter alterations in adults with ASD are regionally diverse but generally less pronounced than in younger populations. This may indicate a potential improvement or adaptation of brain structure during maturation. Further research is needed to clarify the neurobiological mechanisms underlying these changes and their implications for clinical outcomes. Full article

Background/Objectives: An important new consideration when studying autism spectrum disorder (ASD) is the bioenergetic mechanisms underlying the relatively recent rapid evolutionary expansion of the human brain, which pose fundamental risks for mitochondrial dysfunction and calcium signaling abnormalities and their potential role in ASD, as recently highlighted by insights from the BTBR mouse model of ASD. The rapid brain expansion taking place as Homo sapiens evolved, particularly in the parietal lobe, led to increased energy demands, making the brain vulnerable to such metabolic disruptions as are seen in ASD. Methods: Mitochondrial dysfunction in ASD is characterized by impaired oxidative phosphorylation, elevated lactate and alanine levels, carnitine deficiency, abnormal reactive oxygen species (ROS), and altered calcium homeostasis. These dysfunctions are primarily functional, rather than being due to mitochondrial DNA mutations. Calcium signaling plays a crucial role in neuronal ATP production, with disruptions in inositol 1,4,5-trisphosphate receptor (ITPR)-mediated endoplasmic reticulum (ER) calcium release being observed in ASD patient-derived cells. Results: This impaired signaling affects the ER–mitochondrial calcium axis, leading to mitochondrial energy deficiency, particularly in high-energy regions of the developing brain. The BTBR mouse model, with its unique Itpr3 gene mutation, exhibits core autism-like behaviors and metabolic syndromes, providing valuable insights into ASD pathophysiology. Conclusions: Various interventions have been tested in BTBR mice, as in ASD, but none have directly targeted the Itpr3 mutation or its calcium signaling pathway. This review presents current genetic, biochemical, and neurological findings in ASD and its model systems, highlighting the need for further research into metabolic resilience and calcium signaling as potential diagnostic and therapeutic targets for ASD. Full article

Background: Understanding the origin and natural organization of early infant vocalizations is important for predicting communication and language abilities in later years. The very frequent production of speech-like vocalizations (hereafter “protophones”), occurring largely independently of interaction, is part of this developmental process. Objectives: This study aims to investigate the gap durations (time intervals) between protophones, comparing typically developing (TD) infants and infants later diagnosed with autism spectrum disorder (ASD) in a naturalistic setting where endogenous protophones occur frequently. Additionally, we explore potential age-related variations and sex differences in gap durations. Methods: We analyzed ~1500 five min recording segments from longitudinal all-day home recordings of 147 infants (103 TD infants and 44 autistic infants) during their first year of life. The data included over 90,000 infant protophones. Human coding was employed to ensure maximally accurate timing data. This method included the human judgment of gap durations specified based on time-domain and spectrographic displays. Results and Conclusions: Short gap durations occurred between protophones produced by infants, with a mode between 301 and 400 ms, roughly the length of an infant syllable, across all diagnoses, sex, and age groups. However, we found significant differences in the gap duration distributions between ASD and TD groups when infant-directed speech (IDS) was relatively frequent, as well as across age groups and sexes. The Generalized Linear Modeling (GLM) results confirmed these findings and revealed longer gap durations associated with higher IDS, female sex, older age, and TD diagnosis. Age-related differences and sex differences were highly significant for both diagnosis groups. Full article

The present research examines the intersections of giftedness, disability status, and cultural identity through the case of Kent, a nine-year-old Asian American boy who is not only profoundly gifted but has also been diagnosed with autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and possibly developmental coordination disorder (DCD). This study offers a comprehensive exploration of how these overlapping factors shape Kent’s early talent development and educational experiences, while also highlighting the challenges faced by his family and their need for a personalized, holistic support system tailored to his unique combination of abilities and disabilities. While Kent’s case is not generalizable, it underscores the critical importance of understanding the dynamic interplay among giftedness, disability status, and cultural identity in developing effective educational strategies. Furthermore, we advocate for personalized interventions that extend beyond conventional approaches, such as applied behavior analysis (ABA), to adequately address the complex needs of multi-exceptional individuals like Kent. Full article

Introduction: Sex-specific differences in psychopharmacological treatment have gained increasing attention in adults, with studies showing that women often have higher serum concentrations of psychotropic drugs due to biological differences. However, despite recognition of these differences in adults, reference ranges for therapeutic drug monitoring (TDM) in general, but even more sex-specific therapeutic windows for psychotropic drugs, are lacking in children and adolescents, who may metabolize and respond to medications differently. Aim: The study aimed to investigate sex-specific differences in antidepressant (AD) and antipsychotic (AP) -treatment outcomes, and pharmacokinetics in childhood/adolescence. In particular, we examined differences in AD and AP serum levels and clinical effects, including adverse drug effects (ADEs) and therapeutic effectiveness. Methods: This study is part of the multicenter “TDM-VIGIL” pharmacovigilance project, which prospectively followed patients aged 6–18 years treated with AD and AP across 18 child psychiatric centers in German-speaking countries from 2014 to 2018. Clinical data, including drug concentrations (AD: fluoxetine, mirtazapine, (es)citalopram, sertraline; AP: aripiprazole, quetiapine, olanzapine, risperidone), were collected using an internet-based registry, and treatment outcomes and ADEs were assessed during routine visits. Statistical analyses were performed to examine sex differences in pharmacokinetics and clinical responses, adjusting for age, weight, and other confounders. Results: A total of 705 patients (66.5% girls, 24.7% <14 years, mean age of 14.6 years) were included. Female patients were slightly older, had lower body weight, and were more often diagnosed with depression and anorexia nervosa, while boys were more frequently diagnosed with hyperkinetic disorders and atypical autism. We found no sex differences in the serum concentrations of investigated drugs when adjusted for age and weight. In fluoxetine treatment in patients diagnosed with mood (affective) disorders, female sex was associated with the probability for very good therapy response (p = 0.04), as well as with moderate treatment response (p = 0.02) compared to no treatment response. Discussion: Our findings suggest that sex may not affect serum levels of investigated AD and AP in children/adolescents. However, treatment outcome of fluoxetine was associated with sex, with higher probability for a better outcome in female patients diagnosed with mood (affective) disorders. Full article