Search Results (315)

Autism Spectrum Disorder (ASD) remains significantly underdiagnosed in women, resulting in a persistent gender gap with important clinical, functional, and psychosocial implications. This narrative review explores the multifactorial barriers contributing to diagnostic disparities, including the male-oriented structure of current diagnostic criteria, the prevalence of co-occurring psychiatric conditions, and the phenomenon of social camouflaging shaped by culturally reinforced gender norms. These factors frequently lead to delayed identification, clinical misinterpretation, and suboptimal care. The review synthesizes evidence from clinical, psychological, and sociocultural research to demonstrate how the under-recognition of ASD in women impacts mental health outcomes, access to education, occupational stability, and overall quality of life. Special emphasis is placed on the consequences of missed or late diagnoses for healthcare delivery and the educational needs of clinicians involved in ASD assessment and care. This article concludes with actionable, evidence-based recommendations for enhancing diagnostic sensitivity, developing gender-responsive screening strategies, and integrating training on female autism presentation into medical and allied health education. Addressing these challenges is essential to reducing diagnostic inequities and ensuring timely, accurate, and person-centered care for autistic women throughout their lifespan. 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: 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

Background: Autism spectrum disorder (ASD) is characterised by atypical behavioural and cognitive diversity, yet the neural underpinnings linking brain activity and individual presentations remain poorly understood. In this study, we investigated the relationship between resting-state functional magnetic resonance imaging (fMRI) signal complexity and intelligence (full-scale intelligence quotient (FIQ); verbal intelligence quotient (VIQ); and performance intelligence quotient (PIQ)) in male adults with ASD (n = 14) and matched neurotypical controls (n = 15). Methods: We used three complexity-based metrics: Hurst exponent (H), fuzzy approximate entropy (fApEn), and fuzzy sample entropy (fSampEn) to characterise resting-state fMRI signal dynamics, and correlated these measures with standardised intelligence scores. Results: Using a whole-brain measure, ASD participants showed significant negative correlations between PIQ and both fApEn and fSampEn, suggesting that increased neural irregularity may relate to reduced cognitive–perceptual performance in autistic individuals. No significant associations between entropy (fApEn and fSampEn) and PIQ were found in the control group. Group differences in brain–behaviour associations were confirmed through formal interaction testing using Fisher’s r-to-z transformation, which showed significantly stronger correlations in the ASD group. Complementary regression analyses with interaction terms further demonstrated that the entropy (fApEn and fSampEn) and PIQ relationship was significantly moderated by group, reinforcing evidence for autism-specific neural mechanisms underlying cognitive function. Conclusions: These findings provide insight into how cognitive functions in autism may not only reflect deficits but also an alternative neural strategy, suggesting that distinct temporal patterns may be associated with intelligence in ASD. These preliminary findings could inform clinical practice and influence health and social care policies, particularly in autism diagnosis and personalised support planning. Full article

Background/Objectives: Autism spectrum disorder (ASD) is a neurodevelopmental disorder distinguished by an extensive range of symptoms, including reduced social interaction, communication difficulties and tiresome behaviors. Early detection of ASD is important because it allows for timely intervention, which significantly improves developmental, behavioral, and communicative outcomes in children. However, traditional diagnostic procedures for identifying autism spectrum disorder (ASD) typically involve lengthy clinical examinations, which can be both time-consuming and costly. This research proposes leveraging automated machine learning (AUTOML) to streamline the diagnostic process and enhance its accuracy. Methods: In this study, by collecting data from various rehabilitation centers across Pakistan, we applied a specific AUTOML tool known as Tree-based Pipeline Optimization Tool (TPOT) for ASD detection. Notably, this study marks one of the initial explorations into utilizing AUTOML for ASD detection. The experimentations indicate that the TPOT provided the best pipeline for the dataset, which was verified using a manual machine learning method. Results: The study contributes to the field of ASD diagnosis by using AUTOML to determine the likelihood of ASD in children at prompt stages of evolution. The study also provides an evaluation of precision, recall, and F1-score metrics to confirm the correctness of the diagnosis. The propose TPOT-based AUTOML framework attained an overall accuracy 78%, with a precision of 83%, a recall of 90%, and an F1-score of 86% for the autistic class. Conclusions: In summary, this research offers an encouraging approach to improve the detection of autism spectrum disorders (ASD) in children, which could lead to better results for affected individuals and their families. Full article

Background/Objectives: Repetitive behaviors such as hand flapping, body rocking, and head shaking characterize Autism Spectrum Disorder (ASD) while functioning as early signs of neurodevelopmental variations. Traditional diagnostic procedures require extensive manual observation, which takes significant time, produces subjective results, and remains unavailable to many regions. The research introduces a real-time system for the detection of ASD-typical behaviors by analyzing body movements through the You Only Look Once (YOLOv11) deep learning model. Methods: The system’s multi-layered design integrates monitoring, network, cloud, and typical ASD behavior detection layers to facilitate real-time video acquisition, wireless data transfer, and cloud analysis along with ASD-typical behavior classification. We gathered and annotated our own dataset comprising 72 videos, yielding a total of 13,640 images representing four behavior classes that include hand flapping, body rocking, head shaking, and non_autistic. Results: YOLOv11 demonstrates superior performance compared to baseline models like the sub-sampling (CNN) (MobileNet-SSD) and Long Short-Term Memory (LSTM) by achieving 99% accuracy along with 96% precision and 97% in recall and the F1-score. Conclusions: The results indicate that our system provides a scalable solution for real-time ASD screening, which might help clinicians, educators, and caregivers with early intervention, as well as ongoing behavioral monitoring. Full article

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by restricted social communication and repetitive behaviors. Prenatal stress is critical in neurodevelopment and increases risk for ASD, particularly in those with greater genetic susceptibility to stress. Docosahexaenoic acid (DHA) is one of the most abundant ω-3 fatty acids in the membrane phospholipids of the mammalian brain, and dietary DHA plays an important role in brain development and maintenance of brain structure. In this study, we investigated whether peri-natal supplementation of DHA can alleviate autistic-like behaviors in a genetic risk/stress mouse model and how it alters lipid peroxidation activity and GABAergic system gene expression in the forebrain. Pregnant heterozygous serotonin transporter knockout (SERT-KO) and wild-type (WT) dams were placed in either non-stressed control conditions or chronic variable stress (CVS) conditions and fed either a control diet or a DHA-rich (1% by weight) diet. Offspring of each group were assessed for anxiety and autism-associated behavior at post-natal day 60 using an open field test, elevated plus maze test, repetitive behavior, and the 3-chamber social approach test. A liquid chromatography-mass spectrometry (LC-MS)-based method was used to follow changes in levels of lipid peroxidation products in the cerebral cortex. Male offspring of prenatally stressed SERT-het KO dams exhibited decreased social preference behaviors and increased repetitive grooming behaviors compared to WT control offspring. Moreover, DHA supplementation in male SERT-het mice decreased frequency of grooming behaviors albeit showing no associated effects on social behaviors. Regardless of stress conditions, supplementation of DHA to the WT mice did not result in alterations in grooming nor social interaction in the offspring. Furthermore, no apparent changes were observed in the lipid peroxidation products comparing the stressed and non-stressed brains. Gad2 was downregulated in the cortex of female offspring of prenatally stressed SERT-KO dams, and this change appeared to be rescued by DHA supplementation in offspring. Gad2 was upregulated in the striatum of male offspring of prenatally stressed SERT-KO dams, but DHA did not significantly alter the expression compared to the control diet condition. Full article

This paper explores the experiences of parents of children with autistic spectrum disorder (ASD) who have participated in parenting programmes in the UK. The parents attended generic programmes before they were able to access more specific programmes geared towards the needs of children with ASD. The parents found that the generic programmes were detrimental to the needs of their children and disruptive of family life, resulting in parental relationship breakdown in some instances. Whilst the ASD-specific programmes did provide some level of support, the most decisive factor was the sharing of experiences amongst those parents as well as the ongoing support that this fostered. The conclusion of this study is that the neoliberal responsibilisation of parents via parenting programmes is undermining the support networks of parents of children with ASD, and an asset-based community development approach would be more beneficial. Full article

Motor deficits, including atypical gait, are common in individuals with autism spectrum disorder (ASD), although the precise nature and cause of this co-occurrence is unclear. Because walking is a natural activity and gait timing is a metric that is relatively accessible to measurement, we explored whether autistic gait could be described solely in terms of the timing of gait parameters. The aim was to establish whether temporal analysis, including machine learning models, could be used as a group classifier between ASD and typically developing (TD) individuals. Thus, we performed a high-resolution temporal analysis of gait on two age-matched groups of male participants: one group with high-functioning ASD and a comparison TD group (each N = 16, age range 7 to 35 years). The primary data were collected using a VICON^® 3D motion analysis system. Significant increased temporal variability of all gait parameters tested was observed for the ASD group compared to the TD group (p < 0.001). Further machine learning analysis showed that the temporal variability of gait could be used as a group classifier for ASD. Of the twelve models tested, the best-fitting model type was random forest. The temporal analysis of gait with machine learning algorithms may be useful as a future ASD diagnostic aid. Full article

High unemployment rates, inaccessible housing markets, and funding challenges create barriers to finding suitable housing for adults with Autism Spectrum Disorder (ASD) who have less obvious support needs, also known as autistic adults. While public and community housing services in Aotearoa New Zealand (AoNZ) may be an option, a lack of accessible designs leaves families uncertain about future care options. This paper, part of the MBIE-funded Public Housing and Urban Regeneration: Maximising Wellbeing research programme in partnership with registered Community Housing Provider, Te Toi Mahana (TTM), takes an exploratory approach to ask how public and community housing can support and help enable semi-independent living for autistic adults. It investigates how design elements—such as dwelling layouts, material choices, colour schemes, lighting, acoustics, shared and community spaces, and external environments—impact the wellbeing of autistic adults. By extension, insights may also inform private housing design. The study focuses on autistic adults who may be considered ‘mid-to-high’ functioning or those who have been previously diagnosed with Asperger’s Syndrome, whose housing needs are often overlooked. It develops guiding principles and detailed guidance points for public and community housing, informed by the literature, case studies, and data from a photo elicitation study and interviews undertaken with autistic adults in AoNZ. These guiding principles are tested through the speculative redesign of a large TTM site in Newtown, Wellington, AoNZ. Findings should be of interest to government agencies, housing providers, architects, stakeholders, and others involved in shaping the built environment, as well as autistic adults and their supporters, both in AoNZ and internationally. Full article

Background: Autism spectrum disorder (ASD) is a neurodevelopmental condition with a complex and multifactorial etiology, diagnosed on the basis of clinical criteria. Medical comorbidities are common and often lead to instrumental examinations; however, the clinical utility of routinely performing such tests remains uncertain. This study aimed to assess the practical value of instrumental assessments in ASD by examining both prescribing behaviors and the prevalence of abnormal findings in a sample of autistic children. Methods: A combined-method approach was adopted: (1) an online survey of child neuropsychiatrists across the Piedmont region (Italy) explored current attitudes and practices regarding instrumental testing in children with ASD; (2) a retrospective cross-sectional analysis examined the frequency and clinical relevance of abnormal findings in ASD patients who underwent comprehensive testing at a tertiary hospital in Turin. Results: The survey showed that 85.7% of centers follow specific protocols for instrumental examinations, though practices vary considerably. Genetic testing and blood analyses are routinely performed, while EEG, MRI, audiometry, and metabolic screenings are generally based on clinical indication. In the retrospective study, instrumental tests revealed a low rate of clinically significant findings. Clinically relevant genetic abnormalities were detected in 7.9% of CGH-array tests. EEG abnormalities were seen in 9% of cases, though 57% had nonspecific or unclear results. Among biochemical parameters, notable findings included altered lipid profiles (45%), ferritin deficiency (24%), and anemia (12.5%) and no metabolic disorders were identified. Discussion: These findings highlight substantial variability in clinical practice and suggest that while some instrumental tests may provide valuable insights, routine screening is often of limited benefit. The high prevalence of nonspecific findings reinforces the need for careful clinical correlation, emphasizing the importance of balancing comprehensive assessment against the risks of over-testing and challenges in interpreting results. Future research should focus on developing evidence-based guidelines for instrumental assessments in this population. Full article

Dysregulated expression of nuclear receptor superfamily 4 group A member 2 (NR4A2) has recently been associated with autistic spectrum disorder (ASD), speech impairment, and neurodevelopmental delay (NDD); however, its precise role in the prevalence and etiopathogenesis of ASD has not been fully elucidated. Herein, we aimed to explore the role of NR4A2 variants in the genetic underpinnings of ASD among Saudi children of different age ranges and phenotype severities. A total of 338 children with ASD from 315 unrelated families (293 simplex, 2 quads, and 1 quintet) were screened for NR4A2 variants via exome sequencing (ES) of the genomic DNA extracted from peripheral blood mononuclear cells (PBMCs), after which the probands with identified NR4A2 variants were further subjected to trio genetic analyses. ES analysis revealed 10 de novo NR4A2 variants (5 indels/nonsense, 2 missense, and 3 variants affecting splicing) in 8 unrelated probands (2.37%) and 2 affected siblings from 8 unrelated families (6 simplex (2.04%) and 2 quads (8.7%)). Three NR4A2 variants were notably recurrent among both affected and unaffected carriers. All identified indels and two splicing variants met the criteria for pathogenic/loss-of-function (LoF) variants according to the ACMG classification (PVS1), whereas the missense variants were classified as of uncertain significance (VUS). This study is among the first to identify such a high frequency of recurrent variants in an ASD cohort, suggesting their significant contribution to the etiopathogenesis of ASD within this population. Full article

With positron emission tomography followed by functional magnetic resonance imaging (fMRI), we demonstrated that rapid eye movements (REMs) in sleep are saccades that scan dream imagery. The brain “sees” essentially the same way while awake and while dreaming in REM sleep. As expected, an event-related fMRI study (events = REMs) showed activation time-locked to REMs in sleep (“REM-locked” activation) in the oculomotor circuit that controls saccadic eye movements and visual attention. More crucially, the fMRI study provided a series of unexpected findings, including REM-locked multisensory integration. REMs in sleep index the processing of endogenous visual information and the hierarchical generation of dream imagery through multisensory integration. The neural processes concurrent with REMs overlap extensively with those reported to be atypical in autism spectrum disorder (ASD). Studies on ASD have shown atypical visual processing and multisensory integration, emerging early in infancy and subsequently developing into autistic symptoms. MRI studies of infants at high risk for ASD are typically conducted during natural sleep. Simply timing REMs may improve the accuracy of early detection and identify markers for stratification in heterogeneous ASD patients. REMs serve as a task-free probe useful for studying both infants and animals, who cannot comply with conventional visual activation tasks. Note that REM-probe studies would be easier to implement in early infancy because REM sleep, which is markedly preponderant in the last trimester of pregnancy, is still pronounced in early infancy. The brain may practice seeing the world during REM sleep in utero before birth. The REM-probe controls the level of attention across both the lifespan and typical-atypical neurodevelopment. Longitudinal REM-probe studies may elucidate how the brain develops the ability to “see” and how this goes awry in autism. REMs in sleep may allow a straightforward comparison of animal and human data. REM-probe studies of animal models of autism have great potential. This narrative review puts forth every reason to believe that employing REMs as a probe into the development of the visual brain will have far-reaching implications. Full article

Proper nutrition is a critical component in supporting the overall health and development of individuals with autism spectrum disorder (ASD) who experience eating difficulties associated with their autistic traits. Evidence regarding the prevalence, origins, and consequences of eating issues related to ASD is largely derived from studies on autistic children, while information pertaining to adults remains scarce. It is therefore essential to critically review existing research focusing on autistic adults to draw robust conclusions and identify clear research gaps. A computer-aided search in PubMed, Science Direct, Scopus, and Web of Science databases spanning the years 2013–2024 using the search terms covering ASD/Autism, Adult, Nutrition/Nutritional Status, and Diet yielded 43 full-text articles. In our literature review, we explored three critical aspects of nutrition in adults with ASD: their food preferences and sensory processing patterns, studies on nutritional status, and whether dietary and nutritional interventions have improved their adherence to healthier diets. Autistic adults appear to select food based on sensory perceptions. This selection pattern can affect their nutritional status, with a tendency toward overweight and nutritional deficiencies. The most promising intervention strategies incorporate sensory adaptation and structured meal planning. Further research should apply rigorous methodologies that account for this population’s specific characteristics. Full article

Background and Objectives: In light of the growing need to incorporate primary care physicians (PCPs) in the complex care system for autistic patients, this study aims to assess the level of physicians’ knowledge of the autism spectrum in Poland. Materials and Methods: After a literature review, an online survey consisting of 20 items assessing the knowledge of autism etiology, diagnosis criteria, and patient support was developed. Of 250 invitations, 166 physicians filled out the form (a 66.4% response rate). For the statistical analysis, the normal distribution was excluded for all data based on the Shapiro–Wilk test. The U-Mann–Whitney test was performed for two variables to verify the comparison of variables. The threshold of statistical significance was at the level of p = 0.05. Results: Correct responses regarding autism etiology, diagnosis, and support were 37.95%, 42.69%, and 70.05%, respectively. Female physicians presented a higher level of knowledge regarding all categories. The level of general knowledge is statistically higher in pediatricians than in general practitioners, and the knowledge of physicians in training is higher in contrast to specialists. The knowledge of physicians from small towns, as well as physicians with more clinical experience, was low. Conclusions: This study revealed an insufficient level of knowledge relating to autism spectrum disorder among primary care physicians, which is similar to the findings of other studies conducted in different regions of the world. The lack of knowledge is especially evident in the theoretical preparation of physicians regarding ASD. Full article