Search Results (359)

Background and Objectives: Williams syndrome (WS) is a rare neurodevelopmental genetic condition traditionally described as being associated with a highly sociable behavioral profile. However, growing evidence indicates that this characterization may oversimplify the socio-cognitive phenotype, as some individuals with WS exhibit socio-communicative and pragmatic difficulties that may overlap with ASD-related features, although these difficulties should not be interpreted as autism-specific. The present systematic review aimed to investigate the presence of autistic traits in WS, to synthesize evidence on pragmatic and socio-communicative difficulties, and to explore their association with adaptive functioning and, indirectly, adaptive and functional outcomes. Materials and Methods: This study follows a systematic search and selection process in accordance with PRISMA 2020 guidelines and employs a systematic review with structured narrative synthesis. A systematic search of PubMed, Scopus, and Web of Science was performed up to December 2022, supplemented by grey literature sources. Nine studies met the predefined inclusion criteria. Due to substantial methodological heterogeneity, findings were synthesized using a structured narrative approach. Study quality was evaluated using adapted criteria addressing research design, sample characteristics, measurement tools, and risk of bias. Results: The findings suggest that autistic traits may constitute a potentially clinically relevant, though not universal, aspect of the WS phenotype. Pragmatic language difficulties were consistently reported, particularly in relation to conversational management, social reciprocity, and context-appropriate language use. These difficulties appear to function as a key mechanism linking socio-cognitive characteristics with functional outcomes. Patterns of adaptive functioning showed both distinctions from and overlaps with autism spectrum disorder (ASD), especially in communication domains. Available genetic and molecular evidence points to a possible contribution of additional modifying factors for phenotypic variability, with possible phenotypic overlap between WS and ASD, particularly in pragmatic language and adaptive communication. Conclusions: The evidence supports a multidimensional and spectrum-based conceptualization of socio-communicative functioning in Williams syndrome. Despite strong social motivation, individuals with WS may experience meaningful pragmatic and adaptive challenges, with implications for assessment and intervention. These findings highlight the importance of multidimensional and individualized clinical approaches. Full article

Background/Objectives: Children with Autism Spectrum Disorder (ASD, here on termed autistic children) exhibit motor difficulties in social and non-social contexts. Although previous studies have reported behavioral and neural characteristics, their relationship remains largely unexplored. The current study aimed to investigate the behavioral and neural mechanisms underlying interpersonal synchrony in autistic children using simultaneous kinematic and Functional Near-Infrared Spectroscopy (fNIRS) recordings. Methods: Fifty-eight autistic or non-autistic children participated (mean age = 10.1, standard error = 0.3). fNIRS and an inertial measurement unit were used simultaneously to record the neural activity over frontotemporal and parietal regions and arm movement kinematics during a reach-to-clean-up task across three conditions: Watch—the child observed the tester clean up the blocks; Do—the child cleaned up the blocks independently; and Together—the child and tester cleaned up the blocks synchronously. Results: Behaviorally, autistic children demonstrated longer movement displacement, higher average velocity and acceleration, and a greater number of movement units. In terms of cortical activation, autistic children showed hypoactivation in the bilateral precentral gyrus and right inferior parietal lobe, along with hyperactivation in the right middle frontal gyrus, left inferior frontal gyrus, and left inferior parietal lobule. Correlations between kinematic and neural measures suggest that autistic children rely more on online/feedback control to compensate for reduced feedforward control. Conclusions: This study reveals unique compensatory strategies in autistic children, highlighting the connections between neural and behavioral characteristics. These findings have strong potential to inform the development of ASD screening tools and to guide targeted intervention strategies. Full article

Animate attention bias reflects the visual system’s tendency to prioritize animate over inanimate stimuli. This bias is reduced in autism spectrum disorder (ASD), suggesting that similar patterns may also be observed in individuals with high autistic traits (AT). Although previous research has reported reduced animate attention bias during early attentional orienting in individuals with high AT, how this bias unfolds across processing stages remains unclear. Using a dot-probe task combined with eye-tracking, the present study examined this stage-related pattern in individuals with high and low AT. Response time results showed that the low AT group had a significant animate-probe advantage, whereas the high AT group showed no significant advantage, broadly replicating prior findings. In stage-wise analyses, the low AT group showed a significant animate-probe advantage at the late stage, whereas the high AT group showed no significant advantage at either stage. However, this group difference was not reflected in most fixation-based measures. This RT–fixation dissociation suggests that reduced animate attention bias in high AT should not be interpreted simply as reduced overt fixation allocation to animate stimuli, but may reflect differences in using animacy-related cue-location information to facilitate subsequent probe detection and response selection. Full article

The high comorbidity between autism spectrum disorder (ASD) and major depressive disorder (MDD) represents a complex and heterogeneous clinical challenge. Although elevated rates of depression in autistic individuals are well documented, the neurobiological and psychosocial mechanisms underlying this overlap remain debated, particularly in adulthood. This review synthesizes convergent evidence from genetics, monoaminergic and glutamatergic neurotransmission, neuroinflammatory signaling, hypothalamic–pituitary–adrenal axis dysregulation, large-scale brain network alterations, and gut–brain axis modulation to clarify the biological and psychosocial pathways contributing to ASD–depression comorbidity. In addition to shared neurobiological vulnerability, cumulative environmental stressors such as chronic social masking, stigma, and structural barriers may amplify depressive risk across the lifespan. We propose a hypothesis-generating framework that integrates these findings into a mechanistic stratification model, linking dominant biological profiles to targeted therapeutic hypotheses. Within this preliminary model, plant-derived compounds and microbiota-targeted interventions are hypothesized to serve as promising adjunctive strategies, particularly in neuroinflammatory and stress-related subtypes, complementing established pharmacological and neuromodulatory treatments. By moving beyond descriptive overlap toward biologically informed stratification, this review aims to support precision-guided and neurodiversity-affirming approaches for the assessment and treatment of depression in autistic individuals, especially adults who bear a disproportionate burden of mood disorders. This narrative review is based on a structured literature search conducted in PubMed, Scopus, and Web of Science using combinations of keywords such as “autism spectrum disorder,” “major depressive disorder,” “neuroinflammation,” and “gut–brain axis. Full article

Objectives: Autism spectrum disorder (ASD) is increasingly conceptualized as a neurodevelopmental condition with prenatal origins. Advances in fetal magnetic resonance imaging (MRI), including high-resolution structural imaging and resting-state functional connectivity analysis, now enable in vivo characterization of the developing human brain before birth. This review examines whether fetal MRI biomarkers are associated with later ASD diagnosis or autistic traits. Methods: We conducted a PRISMA-informed narrative review of human studies identified through MEDLINE, EMBASE, SCOPUS, and Web of Science. Eligible studies included original human investigations using fetal MRI to assess brain structure and/or function, with postnatal ASD diagnosis or standardized autistic-trait outcomes. Results: Eight eligible studies provide converging evidence that neurodevelopmental divergence associated with ASD may be detectable in utero. Structural analyses consistently report prenatal volumetric alterations, particularly enlargement of the insular cortex between the second and third trimesters. Additional findings of regional overgrowth and hemispheric asymmetries suggest distributed deviations in cortical maturation. Functional fetal MRI studies further demonstrate atypical large-scale network organization prior to birth. Altered connectivity within cingulate, prefrontal, temporal, and cerebellar circuits has been prospectively associated with later autistic traits, indicating that network-level integration may diverge before behavioral symptoms emerge. Evidence from high-risk conditions, including isolated ventriculomegaly and tuberous sclerosis complex, reinforces the association between prenatal structural abnormalities and increased ASD risk. Conclusions: Current evidence suggests that structural and functional brain alterations identifiable by fetal MRI may precede the clinical manifestation of ASD. These findings support a model of ASD as a condition potentially rooted in prenatal neurodevelopmental divergence. However, larger, standardized, multicenter studies are required before fetal MRI biomarkers can be translated into predictive or clinical applications. 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

Objectives: Autism Spectrum Disorder (ASD) and psychotic disorders have long been considered separate diagnostic entities, yet increasing evidence highlights shared neurodevelopmental mechanisms and symptom overlap. Psychotic-like experiences have been frequently reported in individuals with ASD, while subthreshold autistic traits (ATs) in first-degree relatives may also confer vulnerability to psychotic symptoms. This cross-sectional study aimed to compare psychotic spectrum manifestations among adults with ASD, their first-degree relatives (BAP), and controls (HCs), to explore associations between psychotic and ATs, and to evaluate whether psychotic symptoms predict diagnostic group membership. Methods: 22 adults with ASD, 22 BAP, and 24 HCs were evaluated with the Psychotic Spectrum–Self Report (PSY-SR) and the Adult Autism Subthreshold Spectrum (AdAS Spectrum). Results: ASD participants scored significantly higher on the PSY-SR. BAP individuals showed higher PSY-SR total scores compared to HCs, though less severe than in ASD. All PSY-SR domains positively correlated with all AdAS Spectrum domains, with few exceptions. Multinomial regressions showed that higher PSY-SR total scores significantly predicted ASD and BAP membership, and that the PSY-SR Paranoid domain score specifically predicted inclusion in both groups in relation to HCs. Conclusions: Psychotic spectrum symptoms are elevated not only in individuals with ASD but also among first-degree relatives, supporting a continuum linking autistic and psychotic vulnerabilities. The strong association between paranoid symptoms and ATs highlights a dimension of potential clinical relevance for early identification and assessment. These findings reinforce shared neurodevelopmental pathways between the autism and psychosis spectra and underscore the importance of dimensional approaches across diagnostic categories. Full article

Autism Spectrum Disorder (ASD) is a developmental disorder that manifests a broad variability of phenotypes. The underlying factors contributing to the diverse presentation of autistic phenotypes remain poorly understood. Studies have shown that environmental and genetic factors could contribute to ASD. Additionally, there is a sex bias in the disorder, where the prevalence in males is higher than in females. But it is still unknown how exposure to similar risk factors can lead to different phenotypes. The three-hit theory states that the vulnerability of an individual to develop ASD is modulated by the interplay between genetic predisposition, sex, and environmental insults. To better understand this phenomenon, we investigated whether an environmental insult, via maternal immune activation (MIA) during pregnancy could influence the development of the autistic-like phenotype in a genetically predisposed mouse strain, contactin-associated protein-like 2 (CNTNAP2) knockout. CNTNAP2 knockout, sex, and maternal immune activation had significantly additive effects on repetitive/stereotyped and social behavior in the offspring, while working memory and sensory gating were not affected by hits. These results indicate that genetics, sex, and environment interact to influence autistic-like phenotypes in a behavior-specific manner. Full article

Background: Adolescents with neurodevelopmental disorders (NDDs), particularly autism spectrum disorder (ASD) and borderline intellectual functioning/intellectual disability (BIF/ID), represent a clinically complex population in psychiatric emergency settings, with unclear contributions to acute psychopathology and suicide risk. Aims: This study examined whether ASD and BIF/ID differentially influence clinical severity, psychopathological profiles, and suicidality in adolescents admitted for psychiatric emergencies, comparing high-functioning ASD, ASD with cognitive impairment, and adolescents without NDDs. Methods: We conducted a retrospective, single-center cohort study including 206 consecutive patients aged 11–17 years admitted to a psychiatric emergency unit between January 2022 and December 2023. Patients were stratified into four groups: ASD (ASD-HF; ASD-BIF/ID), BIF/ID and N-ASD/N-BIF/IDClinical severity, global functioning, psychiatric diagnoses, adverse childhood experiences, emotional dysregulation, and suicidality were assessed using standardized diagnostic and behavioral measures. Group comparisons were performed to identify predictors of suicidality. Results: ASD-BIF/ID patients exhibited the lowest global functioning, whereas ASD-HF adolescents showed functioning comparable to controls. Suicidal ideation and behaviors were significantly more frequent in ASD-HF. BIF/ID was associated with greater behavioral impairment and lower suicidality. Conclusions: ASD and BIF/ID may differentially shape psychiatric emergency presentations. Adolescents with high-functioning ASD showed a higher prevalence of suicidality in this specific clinical context. Limits: This study is limited by its cross-sectional, single-center, and retrospective design, small and uneven subgroup sizes, and assessment tools not specifically validated for autistic or intellectually disabled populations. The high prevalence of bipolar spectrum disorders may reflect referral bias. Despite these limitations, adolescents with high-functioning ASD exhibited elevated suicidality, underscoring the importance of risk assessment adapted to cognitive and diagnostic profiles. Full article

Gradable adjectives (long, happy) differ from absolute adjectives (spotted) in that they are dependent on context and speaker/listener perspective for their interpretation. Such context sensitivity may present challenges for individuals with autism spectrum disorder (ASD); however, this has never been investigated for these linguistic elements. In the current study, we asked adolescents with ASD or typical development (TD), who were part of a larger longitudinal study in which autistic characteristics, nonverbal cognition (NVIQ), and standardized language were also assessed, to sort pictures whose properties were either gradable or absolute. Adolescents sorted pictures on two occasions. In the second sorting, we manipulated the context by adding images representing one end of the scale to induce a shift in interpretation. Contrary to prediction, both groups demonstrated sensitivity to the context-specific properties by shifting their cutoffs of what counted as ‘long’ or ‘happy’ when the array was changed. Whereas NVIQ correlated positively with physical property shifts for the TD group, language measures correlated negatively with emotion property shifts for the ASD group. Autistic characteristics were not related to shift patterns in either group. Adolescents with autism are clearly able to take context into account when interpreting gradable adjectives; however, those with better language seem more focused on maintaining their cutoffs more than shifting them. 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

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/Objectives: Narrative differences in autism spectrum disorder (ASD) and subtle and parallel differences among their first-degree relatives suggest potential genetic liability to this critical social-communication skill. Effective social-communication relies on coordinating signals across modalities, which is often disrupted in ASD. Therefore, the current study examined the coordination of fundamental skills—gaze and speech—as a potential mechanism underlying narrative and broader pragmatic differences in ASD and their first-degree relatives. Methods: Participants included 35 autistic individuals, 41 non-autistic individuals, 90 parents of autistic individuals, and 34 parents of non-autistic individuals. Participants narrated a wordless picture book presented on an eye-tracker, with gaze and speech simultaneously recorded and subsequently coded. Time series analyses quantified their temporal coordination (i.e., the temporal lead of gaze to speech) and content coordination (i.e., the amount of gaze-speech content correspondence). These metrics were then compared between autistic and non-autistic groups and between parent groups and examined in relation to narrative quality and conversational pragmatic language skills. Results: Autistic individuals showed reduced temporal coordination but increased content coordination relative to non-autistic individuals with no significant differences found between parent groups. In both autistic individuals, and parent groups combined, increased content coordination and reduced temporal coordination were linked to reduced narrative quality and pragmatic language skills, respectively. Conclusions: Reduced temporal and increased content coordination may reflect a localized strategy of labeling items upon visualization. This pattern may indicate more limited visual, linguistic, and cognitive processing and underlie differences in higher-level social-communicative abilities in ASD. To our knowledge, this study is the first to identify multimodal skill coordination as a potential mechanism contributing to higher-level social-communicative differences in ASD and first-degree relatives, implicating mechanism-based interventions to support pragmatic language skills in ASD. Full article

Background: The interplay between neuronutrition, physical activity, and mental health for enhancing brain resilience to stress and overall human health is widely recognized. The use of brain mapping via quantitative-EEG (qEEG) comparative analysis enables researchers to identify deviations or abnormalities and track the changes in neurological patterns when a targeted drug or specific nutrition is administered over time. High-functioning mild-to-borderline intellectual disorders (MBID) and autism spectrum disorder (ASD) constitute leading global public health challenges due to their high prevalence, chronicity, and profound cognitive and functional impact. Objective: The objectives of the present study were twofold: first, to characterize an extremely vulnerable group of children with functioning autism symptoms, disclosing their overall pattern of cognitive abilities and areas of difficulty, and second, to investigate the relevance of the effects of a mushroom (Hericium erinaceus) biomass dietary supplement on improvement on neurocognitive behavior. Methods: This study used qEEG to compare raw data with a normative database to track the changes in neurological brain patterns in 147 children with high-functioning autistic attributes when mushroom H. erinaceus biomass supplement was consumed over 6 and 12 months. Conclusions: H. erinaceus biomass in children with pervasive developmental disorders significantly improved the maturation of the CNS after 6 to 12 months of oral use, decreased the dominant slow-wave activity, and converted slow-wave activity to optimal beta1 frequency. Therefore, despite the lack of randomization, blinding, and risk of bias, due to a limited number of observations, it may be concluded that the H. erinaceus biomass may generate a complex effect on the deficits of the autism spectrum when applied to high-functioning MBID children, representing a safe and effective adjunctive strategy for supporting neurodevelopment in children. Full article

Background: Autism spectrum disorder (ASD) is associated with distinct visual attention patterns that provide insight into underlying social-cognitive mechanisms. Methods: This systematic review (PROSPERO: CRD42023429316), conducted per PRISMA guidelines, synthesizes evidence from 14 peer-reviewed studies using eye-tracking to compare oculomotor strategies in autistic children and typically developing (TD) controls. A comprehensive literature search was conducted in PubMed, Web of Science, and Science Direct up to March 2025. Study inclusion criteria focused on ASD versus TD group comparisons in individuals under 18 years, with key metrics, fixation duration and count, spatial distribution, saccadic parameters systematically extracted. Risk of bias was assessed using the QUADAS-2 tool, revealing high heterogeneity in both index tests and patient selection. Results: The results indicate that autistic children exhibit reduced fixation on socially salient stimuli, atypical saccadic behavior, and more variable spatial exploration compared to controls. Conclusions: These oculomotor differences suggest altered mechanisms of social attention and information processing in ASD. Findings suggest that eye-tracking can contribute valuable information about heterogeneous gaze profiles in ASD, providing preliminary insight that may inform future studies to develop more sensitive diagnostic tools. This review highlights visual attention patterns as promising indicators of neurocognitive functioning in ASD. Full article