Search Results (216)

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

Individuals with Autism Spectrum Disorder (ASD) often experience sensory hyperreactivities that interfere with daily life activities. White noise, characterized by its uniformity and its ability to mask environmental sounds, may serve as a tool to improve sensory and emotional regulation in children with ASD. The primary objective was to evaluate the response to white noise in improving self-regulation in minors with ASD. As a secondary objective, the study assessed whether there were differences in the response to white noise between patients with ASD and those with ASD and Intellectual Disability (ID). This study was conducted in the Child and Adolescent Psychiatry and Psychology Department of Hospital Clínic of Barcelona. A total of 54 patients, aged between 7 and 17 years, were included. The patients were divided into two groups: Group 1 consisted of patients diagnosed with ASD (n = 21), and Group 2 included patients diagnosed with ASD and ID (n = 33). White noise was offered to the patients, and their response was evaluated before and after the exposure using the Conners Teacher Rating Scale. Overall, the response to white noise in the sample was positive, with a significant difference in scores on the Conners Teacher Rating Scale (p < 0.001). When dividing the sample into the ASD group and the ASD + ID group, it was observed that the ASD + ID group tolerated white noise better and had a longer exposure time, although both groups showed improved scores on the Conners Teacher Rating Scale. White noise may be a valuable tool to enhance well-being in individuals with ASD, reduce motor restlessness, and increase attention span and emotional stability. However, its effectiveness varies across individuals. It is recommended to tailor its use to individual needs and to extend future research by incorporating physiological measures and larger sample sizes. Full article

Objectives/Background: Aarskog–Scott syndrome (AAS), also known as faciogenital dysplasia, is a rare X-linked genetic disorder primarily characterized by its diverse physical manifestations. Previous evidence suggests a potential association between AAS and neurodevelopmental disorders, including autism spectrum disorder (ASD). Methods: This case study presents a male adolescent with ASD and a novel genetic variant in FGD1 underlying AAS. We conducted comprehensive clinical, genetic, and behavioral assessments to characterize the neurodevelopmental presentation. Moreover, we examined the existing literature on AAS and comorbid neurodevelopmental disorders. Results: The patient demonstrated features consistent with both AAS and ASD, presenting with characteristic physical features of AAS and meeting diagnostic criteria for ASD on both ADI-R and ADOS-2. Cognitive assessment revealed above-average nonverbal IQ (Leiter-3, NVIQ = 115), while adaptive functioning was notably impaired (Vineland composite score = 65). Executive function deficits were identified through several assessments, though ADHD diagnostic criteria were not met. The literature review considered 64 studies, including 151 individuals with AAS. ASD was observed in 4.0%, Attention Deficit/Hyperactivity Disorder (ADHD) in 10.6%, and Intellectual Disability (ID) in 14.2% of cases. Conclusions: The combination of ASD with preserved nonverbal intelligence but impaired adaptive functioning in this AAS case demonstrates the complex neurodevelopmental manifestations possible in this rare genetic condition. The prevalence of neurodevelopmental disorders among people with AAS may be higher than their prevalence in the general population. However, a comprehensive assessment of developmental progress was rarely performed in previous studies, which may lead to systematic underestimation of co-occurring neurodevelopmental difficulties in AAS. Full article

Background: Gastrointestinal (GI) symptoms, often reported by individuals with autism spectrum disorders (ASD), may impair functionality and exacerbate behavioral symptoms. Gut dysbiosis has been identified as a potential environmental factor influencing these symptoms through gut-brain axis dysregulation. Fecal microbiota transplantation (FMT) is a promising therapeutic strategy with potential to alleviate symptoms. This review systematically evaluates the efficacy and safety of FMT in GI and ASD-related symptoms. Methods: This systematic review followed PRISMA 2020 guidelines and was registered in PROSPERO. The review included clinical trials on FMT in children and adolescents with ASD, published up to October 2024. The bias assessments were performed using Cochrane tools. Outcomes focused on changes in GI and ASD-related symptoms using scales selected by the authors. Results: This systematic review included two RCTs and seven before-and-after studies. Improvements in GI and ASD-related outcomes were reported in all before-and-after studies, whereas the results of RCTs were inconsistent. The before-and-after studies showed a high risk of bias, while the RCTs demonstrated a low risk. Conclusions: Although many studies have been conducted, the methodological limitations of some and contradictory findings of others make it difficult to draw clear conclusions about the effectiveness of FMT in children with ASD. Variations in intervention protocols underscore the importance of establishing standardized FMT procedures in future rigorously designed trials. Full article

Background/Objectives: Aggression in adolescents with autism, particularly those with high-functioning autism (HFA), presents a unique clinical profile. The aim of this study was to assess and compare anger expression and regulation in adolescents with HFA, those diagnosed with conduct disorder (CD), and a control group with no psychiatric diagnoses. Methods: A total of 120 adolescents aged 14–17 were divided into three equal groups: 40 with HFA, 40 with CD, and 40 controls. Participants were assessed using the State-Trait Anger Expression Inventory (STAXI-2), which measures emotional intensity, trait predisposition, and modes of anger expression and control. Non-parametric statistical analyses were conducted to examine group differences. Results: Statistically significant differences were found across most STAXI-2 scales. Adolescents with CD exhibited the highest scores on anger intensity and expression, followed—at a lower level—by those with HFA. The autism group showed significantly elevated levels of verbal anger expression and frustration reactivity compared to controls, but lower tendencies for physical aggression. Trait anger was also higher in the HFA group, particularly in response to frustration or criticism. No significant differences were found between the HFA and control groups on anger control scales individually; however, the overall Anger Expression Index was significantly elevated in HFA, reflecting a global imbalance between anger expression and regulation. Conclusions: Adolescents with high-functioning autism exhibit a distinct profile of emotional dysregulation, characterized by increased verbal anger and frustration sensitivity, despite lower levels of overt aggression. This comparative pilot study contributes to a better understanding of emotional dysregulation and anger expression in adolescents with HFA. These findings highlight the need for tailored emotion regulation interventions. School-based programs focused on emotional awareness and verbal anger management could offer meaningful benefits for this population. Future research should expand sample diversity, explore gender differences, include common comorbidities like ADHD, and investigate longitudinal and neurobiological patterns of anger regulation in ASD. Full article

Background: Schizotypal traits are considered to be clinical and cognitive features of Schizotypal Disorder in children (SDc). These traits are also seen in children and adolescents with high-functioning Autism Spectrum Disorder (ASD). This study examines the influence of schizotypal traits (and their severity) on the capacity of children with ASD to manage emotions, develop relationships with others, and adapt in school and family life. Methods: The Schizotypal traits of 63 children (6–12 years old) with High Functioning ASD were measured by the Melbourne Assessment of Schizotypy in Kids (MASK). Parents and teachers of the participating children completed the Child Behavior Checklist (CBCL) and Teachers’ Report Form (TRF) from the Achenbach System of Empirically Based Assessment and the Aberrant Behavior Checklist (ABC). Results: Overall, the results indicated correlations between the MASK scores and problems recorded by teachers, such as Internalizing problems (i.e., Anxious/Depressed, Withdrawn/Depressed, and Other problems score) according to TRF and Inappropriate speech scores, according to teacher’s ABC scales. Schizotypal traits impact the social, emotional, and behavioral functioning of children with ASD at home and school environments. Conclusions: The assessment of schizotypal traits in children with ASD provides critical information about a child’s functionality and cognitive development, also leading to the identification of potential cognitive-neuropsychological endophenotypes within ASD with characteristics of both Autism and Schizophrenia spectra. Τhe development of a valid assessment tool is required, as well as the design of targeted interventions to prevent the loss of functionality. Full article

The increasing incidence of autism spectrum disorder (ASD) increases the urgency of establishing the mechanism of its development for effective prevention and treatment. ASD’s etiology includes genetic predisposition and environmental triggers, both of which can play a role in the changed microbiota. Recent research has proved the impact of maternal microbiota on the neurodevelopment of the child. To investigate the co-play of genetic and microbiota factors in ASD development, we performed fecal microbiota transplantation (FMT) from children with ASD to female Shank3b^+/− mice and studied the autism-like symptoms in the male Shank3b^−/− and wild-type (WT) offspring. WT animals with prenatal exposure to ASD microbiota had delayed neurodevelopment and impaired food intake behavior, but also elevated plasma leptin concentration and body weight. Shank3b^−/− mice after FMT ASD exhibited impaired learning and exacerbated anxiety-like behavior in adulthood. Interestingly, FMT ASD improved learning in adolescent Shank3b^−/− mice. Prenatal exposure to ASD microbiota decreased the activity of hypocretin neurons of the lateral hypothalamic area in both genotypes. The combination of genetic predisposition and FMT ASD led to an increased colon permeability, evaluated by zonula occludens (ZO1, ZO3) and claudin factors. These results suggest the effect of parental FMT exposure on shaping offspring behavior in Shank3b^−/− mice and the potential of microbiota in the modulation of ASD. Full article

Social-communicative abilities and theory of mind (ToM) are crucial for successful social interactions. The developmental trajectories of social and communicative skills characterizing individuals with Autism Spectrum Disorder (ASD) are rather complex and multidimensional, including components related to theory of mind. Due to its mentalistic nature, theory of mind has been rarely addressed as an outcome for Applied Behavior Analysis (ABA) intervention in children and adolescents with ASD. However, there is evidence that ABA intervention might be effective in promoting social abilities in individuals with ASD. Thus, this topic is worth investigating. We present a systematic review to explore the Ins and Outs of an ABA approach to promote social and communicative abilities and ToM in children and adolescents with ASD. We applied a PRISMA checklist to consider studies published up to December 2024. The keywords that we used were ToM, perspective-taking, false belief, social cognition, and mental states, in combination with ABA intervention and ASD (up to age 18). We searched for studies using Scopus, Google Scholar, and Medline. We included twenty studies on perspective-taking, identifying emotions, helping, detecting eye gazing, and social engagement, reviewing fifteen dedicated to teaching the interpretation of mental states (involving 49 children and 10 adolescents). The ToM was addressed with a multiple baseline design on target behaviors associated with ToM components such as identifying emotion, helping behaviors, and mental states. The intervention included a behavioral package consisting of Behavioral Skill Training, Derived Relations, video modeling, and role playing. The results indicated a significant number of participants who followed ABA intervention to promote social abilities and mastered the target behavior in ToM tasks; however, they showed maintenance and generalization issues across trials and settings. The role of predictors was highlighted. However, the studies are still rare and exhibit specific methodological limitations, as well as some clinical and ethical considerations. More research is needed to define best practices in ABA intervention to promote social abilities in individuals with ASD. Full article

Background: Disorders of Gut–Brain Interaction (DGBIs) are present in 23.0% of the paediatric population, according to Rome IV. Latin American (LA) prevalence of DGBIs in children with Autism Spectrum Disorder (ASD) is unknown. The aim of this study was to determine the prevalence of DGBIs and possible associations in schoolchildren and adolescents with ASD from LA. Methods: An observational analytical study was conducted in LA cities. Caregivers of children with ASD completed the Rome IV Questionnaire for Pediatric Gastrointestinal Symptoms to identify DGBIs. Sociodemographic, clinical, and family variables were included. Statistical analysis involved central tendency measures, univariate and bivariate analysis, calculation odds ratios (ORs), and 95% confidence intervals (95%CIs), with p < 0.05 significance. Results: The study included 353 children with ASD. Predominantly male (78.8%), white (56.1%), attending private schools (79.3%), altered nutritional status (43.9%), born by c-section (57.5%), firstborn (54.7%), level of autism not classified at the time of the study (49.0%). A total of 58.9% presented DGBI. Functional constipation (FC) was the most frequent (27.2%). Those from Central America (CA) had a higher likelihood of presenting a DGBI (OR = 1.98, 95% CI = 1.25–3.12, p = 0.0018). Conclusions: Over half of LA schoolchildren and adolescents with ASD presented DGBI, FC being the most common, and higher likelihood of DGBI in CA. Full article

Background/Objectives: Autism spectrum disorder (ASD) has a wide-ranging impact on individuals’ quality of life and development, and there is a critical need for greater awareness, early intervention, and comprehensive support strategies to effectively address the unique needs of those affected by ASD. Recent studies highlight the gut microbiome’s potential role in modulating ASD symptoms via the gut–brain axis, but specific microbial biomarkers remain unclear. This study aims to investigate differences in gut microbiota composition between ASD patients and neurotypical controls in a novel approach, specifically assessing ratios of Firmicutes/Bacteroidetes (F/B), Actinobacteria/Proteobacteria (A/P), and Prevotella/Bacteroides (P/B) as potential biomarkers. Methods: We analyzed gut microbiome samples from 302 Bulgarian children and adolescents diagnosed with ASD (aged 2–19 years). Microbial ratios (F/B, A/P, and P/B) were calculated and compared against previously reported reference meta-analytic means from European neurotypical populations. The statistical significance of deviations was assessed using parametric (t-tests), non-parametric (Wilcoxon signed-rank tests), and proportion-based (binomial tests) methods. Effect sizes were quantified using Cohen’s d. Significant differences between ASD cases and neurotypical reference values were observed across several age groups. Results: Notably, children with ASD demonstrated significantly lower F/B and A/P ratios, with the youngest cohort (0–4 years) exhibiting the greatest differences. Deviations in the P/B ratio varied across age groups, with a significant elevation in the oldest group (≥10 years). Collectively, ASD cases consistently exhibited microbiota profiles indicative of dysbiosis. Conclusions: Our findings support gut microbiome dysbiosis as a potential biomarker for ASD, highlighting significantly altered bacterial ratios compared to neurotypical controls. These microbiome shifts could reflect early-life disruptions influencing neurodevelopment. Future studies should adopt longitudinal and mechanistic approaches to elucidate causal relationships and evaluate therapeutic microbiome modulation strategies. Full article

Background/Objectives: Emerging evidence suggests that individuals with autism spectrum disorder (ASD) exhibit altered neural connectivity and disrupted brain network dynamics, which can be captured through EEG microstate analysis. Most research to date has focused on older children, adolescents, or adults with ASD, while studies focusing on preschool-aged children with ASD remain limited. Given that early brain development is critical for understanding the onset and progression of ASD, more research targeting this age group is essential. Methods: In this study, resting EEG data were collected from 59 preschool-aged children with ASD and 59 typically developing (TD) participants. Results: The results revealed a reduction in global explained variance and coverage of microstate in children with ASD, indicating poorer social performance that was independent of alpha power after the removal of the 1/f-like aperiodic signal. These findings reflect the social symptoms commonly observed in ASD. Additionally, alpha power was found to modulate the occurrence and duration of microstates in both groups. Conclusions: Our findings highlight that atypical microstates can serve as reliable biomarkers for ASD, offering valuable insights into the neurophysiological mechanisms underlying the disorder and paving the way for future research directions. Full article

Background: To date, it remains unclear which oral doses and preparation forms of melatonin should be recommended for children and adolescents with non-organic sleep disorders and autism spectrum disorder (ASD). We reviewed the current state of knowledge on this topic based on randomised placebo-controlled trials (RCTs) and diagnosis-related blood melatonin concentrations available in this age group. Method: Two investigators independently searched PubMed, PsycINFO, MEDLINE, and Cochrane CENTRAL on 1 March 2025 for the keywords “melatonin”, “autism”, and “randomised” in titles and abstracts in all languages, including an evaluation of the references of the reviews, systematic reviews, and meta-analyses published up to that date, some of which were based on searches in numerous databases. Based on this, additional in-depth searches were carried out in PubMed for pharmacokinetic, physiological, and pathophysiological data on melatonin in children and adolescents, with a special focus on ASD. Results: To date, five RCTs on non-organic sleep disorders in children and adolescents with the sole diagnosis of ASD or with subgroup analyses in the presence of several initial diagnoses such as ADHD, epilepsy, Smith–Magenis, or Fragile X syndrome are available. In these studies, rapid-release, non-delayed preparations were administered orally. In one of these studies, the clinical efficacy of a combination preparation with a sustained-release and a non-released active substance component was tested. Pharmacokinetic data with multiple determinations of melatonin concentrations in the blood are only available for children with ASD in the form of a case series (N = 9). Discussion: RCTs comparing the efficacy of delayed melatonin preparations with non-delayed rapid-release oral preparations are not yet available. Physiological data and clinical effects documented in five RCTs indicate that non-delayed melatonin preparations with an initial rapid onset of action are effective for non-organic sleep disorders in children and adolescents with ASD. Conclusions: From a clinical, pharmacokinetic, and physiological point of view, the RCTs available to date and the data on melatonin concentrations in the blood of children with ASD, measured several times over 24 h, suggest that a low oral melatonin dose and a non-delayed preparation with rapid onset should be started in children and adolescents with non-organic sleep disorders in ASD, if sleep hygiene advice and psychotherapeutic interventions have not demonstrated sufficient effects. Full article

Sexual health is a vital aspect of overall well-being, yet individuals with autism spectrum disorder (ASD) face significant stigma and discrimination, affecting self-esteem, relationships, and sexual expression. This review examined the recent literature (2020–January 2024) on intimacy and sexuality among adolescents and young adults with ASD, incorporating 32 studies. Findings highlight poorer sexual health among autistic individuals compared to the general population, with difficulties in forming romantic relationships and navigating sexual interactions due to hypersensitivity. Autism is also linked to non-conforming gender identities and asexuality, exposing individuals to dual stigma within the LGBTQ+ community. Autism-related traits hinder sexual health knowledge, increasing risks of victimisation, abuse, and sexually transmitted infections. Comprehensive sexual education and inclusive support are crucial to address these challenges and promote sexual well-being for autistic individuals. Full article

Background/Objectives: Augmented reality (AR) has emerged as a promising educational tool for individuals with autism spectrum disorder (ASD), offering interactive and engaging learning experiences. While AR interventions have been widely explored in educational contexts, their specific impact on learning outcomes in individuals with ASD remains unclear. This systematic review aimed to explore preliminary indications of the efficacy of augmented reality (AR)-based interventions in improving cognitive and academic skills in children, adolescents, and adults with ASD. Methods: A comprehensive literature search identified studies published between 2014 and 2024 that assessed AR interventions targeting learning outcomes in individuals with ASD. Results: A total of 12 studies (9 were single-subject studies), comprising 123 participants, met the inclusion criteria. The findings revealed that AR interventions contributed to improvements in multiple learning domains, including language acquisition, reading comprehension, mathematics, science education, executive functioning, and attention. AR-based applications were particularly effective in enhancing engagement, motivation, and interactive learning, addressing challenges commonly faced by individuals with ASD. Conclusions: Findings suggest that AR can be a valuable tool for improving learning outcomes in individuals with ASD, and it could contribute to the inclusion and functional development of students with special needs. Full article

This systematic review aims to investigate the ways in which assistive and developing technologies can help children and adolescents with autism spectrum disorder (ASD) experience less stress and neurophysiological distress. According to recent CDC data, the prevalence of ASD in the United States has climbed to 1 in 36 children. The symptoms of ASD can manifest in a wide range of ways, and the illness itself exhibits significant variations. Furthermore, it has been closely linked to experiencing stress and worry in one’s life, which many people refer to as sensory processing disorder (SPD). SPD is a disorder that describes how people behave when they are exposed to environmental stimuli that they may not normally process by feeling more intense than what is causing them to worry and distress. One of the most significant limiting factors that can prevent someone from engaging in what they need to do in their everyday lives is stress. Individuals with ASD deal with stress on a regular basis, which has a big impact on how they function. In order to address a significant research vacuum concerning the use of assistive and emerging technologies to reduce stress in individuals with ASD, this systematic review aims to investigate performance, measuring techniques, and interventions by gathering data from the past 10 years. In order to determine the research hypothesis, particular research questions, and the inclusion and exclusion criteria for the studies, the research process entails gathering studies through systematic review analysis in accordance with the PRISMA principles. Experimental and observational studies on the use of assistive and emerging technologies for stress and anxiety management in children and adolescents with ASD that were published only in English met the inclusion criteria. Research not directly related to stress and anxiety outcomes, articles published in languages other than English, and research conducted outside of the designated time frame were also excluded. The study’s findings demonstrated that the technologies under examination had beneficial impacts on reducing stress; nonetheless, notable limitations were found that could compromise the replication and generalizability of legitimate and dependable applications in their utilization. Full article