Search Results (43)

Background/Objectives: Diagnosing ASD in adults presents unique challenges, and there are currently no specific biomarkers for this condition. Most existing studies on the gut microbiota in ASD are conducted in children; however, the composition of the gut microbiota in children differs significantly from that of adults. This study aimed to study the gut microbiota of young adults with high-functioning ASD. Methods: Using metagenomic sequencing, we evaluated the gut microbiota in 45 adults with high-functioning ASD and 45 matched healthy controls. Results: Adjusting for sociodemographic information, dietary habits, and clinical data, we observed a distinct microbiota profile of adults with ASD in comparison to controls, with the intensity of autistic traits strongly correlating to microbial diversity (correlation coefficient = −0.351, p-value < 0.001). Despite a similar dietary pattern, the ASD group exhibited more gastrointestinal symptoms than the healthy controls. An internally validated machine-learning predictive model that combines the Autism Spectrum Quotient questionnaire score of individuals with their microbial features could achieve an area under the receiver operating characteristic curve (AUC) of 0.955 in diagnosing ASD in adults. Conclusions: This study evaluates the gut microbiota in adult ASD and highlights its potential as a non-invasive biomarker to enhance the diagnosis of ASD in this population group. Full article

Autism Spectrum Disorder (ASD) has been associated with disruptions in one-carbon metabolism and vitamin D pathways. Nutritional exposures—particularly vitamin D, vitamin B₁₂, and homocysteine—may influence neurodevelopmental outcomes. However, a comprehensive, lifespan-spanning synthesis of these modifiable nutritional biomarkers has not been conducted. This systematic review and stratified meta-analysis critically synthesized data on vitamin D, vitamin B₁₂, and homocysteine to elucidate their relationships with ASD risk and symptomatology. Our central question was: How do levels of vitamin D, vitamin B₁₂, and homocysteine—measured before and after birth—affect the risk, severity, and potential treatment outcomes for ASD? We conducted a PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) compliant systematic review and stratified meta-analysis (2015–2025) of 35 studies (11 randomized controlled trials, 24 observational), examining prenatal, neonatal, and postnatal biomarker levels. Eligibility criteria were defined using the PICOS (Population, Intervention, Comparator, Outcome, and Study Design) framework to ensure scientific rigor and clinical relevance, including studies involving human participants aged 0–18 years with a formal Autism Spectrum Disorder (ASD) diagnosis or prenatal exposures potentially linked to later ASD onset, while excluding animal studies, adult-only ASD populations, and studies lacking ASD cohorts or biomarker data. The search strategy, developed according to PRISMA, and Cochrane best practices, encompassed five major databases (PubMed/MEDLINE, Cochrane Library, Google Scholar, ClinicalTrials.gov, and ProQuest) alongside manual searches of key references, grey literature, and clinical trial registries to ensure comprehensive retrieval of both published and unpublished studies. Study quality was assessed using version 2 of the Cochrane risk-of-bias tool for RCTs (RoB2) and the Newcastle–Ottawa Scale (NOS) for observational studies; certainty of evidence was graded via GRADE (Grading of Recommendations Assessment, Development and Evaluation). Random-effects meta-analyses were stratified by biomarker and study design. Heterogeneity, small-study effects, and publication bias were evaluated using Cochran’s Q, I², Egger’s test, and trim-and-fill. Prenatal vitamin D deficiency was associated with approximately two-fold increased odds of Autism Spectrum Disorder (ASD) in offspring (pooled OR ≈ 2.0; p < 0.05), while excessively elevated maternal B₁₂ concentrations, often co-occurring with folate excess, were similarly linked to increased ASD risk. Meta-analytic comparisons revealed significantly lower circulating vitamin D (SMD ≈ −1.0; p < 0.001) and B₁₂ levels (SMD ≈ −0.7; p < 0.001), alongside elevated homocysteine (SMD ≈ 0.7; p < 0.001), in children with ASD versus neurotypical controls. Early-life vitamin D/B₁₂ insufficiency and elevated homocysteine are important, modifiable correlates of ASD risk and severity. Adequate maternal and child nutritional status could have risk-reducing and symptom-mitigating effects, although causality remains to be confirmed. This evidence supports tailored nutritional interventions as a component of ASD risk reduction and management strategies, within the bounds of overall developmental healthcare. The article processing charges (APC) were supported by “Dunărea de Jos” University of Galati, Romania. No external funding was received for the execution of the research. The review was not prospectively registered in PROSPERO or any other systematic review registry. Full article

Background: Autism spectrum disorder (ASD) is a lifelong neurodevelopmental condition affecting 1.1% of adults. The increasing incidence of ASD has led to pressurised diagnostic services. Objective: We aimed to determine the number needed to harm (NNH) of criteria-informed triage assessment in an adult autism diagnostic service in the UK. Methods: The study was conducted at a specialist adult Autism Service in West Yorkshire, UK, from November 2021 to August 2022. All eligible referrals were accepted, with criteria requiring service users to be over 18 years old and without an intellectual disability. The evaluation consisted of 60 cases. Results: None of the evaluation cases resulted in a clinical diagnosis of ASD, yielding an infinite number needed to harm (NNH), demonstrating that every case benefited from the triage process without significant risk of harm. Conclusions: Triage enables services to gather comprehensive information about individual presentations and clinical needs, facilitating informed decision-making and better service utilisation. The evaluation demonstrates the safety and effectiveness of the triage process, with directions for further research discussed. Full article

Background: The link between autism spectrum disorder (ASD) and obsessive–compulsive disorder (OCD) and the complexity of their differential diagnosis has been vastly investigated. Growing attention has been paid to the presence of problematic Internet use (PIU) in autistic individuals. Studies assessing OCD traits in autistic individuals are scarce and even less take into account the role that this overlap may have on the development and maintenance of PIU. We aimed to investigate OCD features in ASD individuals and their association with autism severity and the prevalence of PIU, and the potential dimensions associated with a greater probability of PIU. Methods: a total of 46 participants with ASD and 53 controls were assessed with the Adult Autism Subthreshold Spectrum questionnaire and the Obsessive–Compulsive Spectrum—Short Version. Results: There were significantly higher OCD features in ASD participants along with important correlations between OCD and ASD dimensions and a higher prevalence of PIU in the ASD group. Participants with putative PIU reported greater scores on some ASD and OCD dimensions, the with Doubt and Non-verbal communication domains emerging as significant predictors of the presence of putative PIU. Conclusions: These results support the three-way link between ASD, OCD, and PIU, contributing to the hypothesis of a neurodevelopmental basis for those conditions. Full article

Background/Objectives: The diagnosis of Autism Spectrum Disorders (ASD) is undergoing significant revisions, impacting prevalence estimates in the general population. Moreover, the rise of a dimensional perspective on psychopathology has broadened our understanding of autism, recognizing that subthreshold autistic features extend throughout the general population. However, there remains a limited understanding of the prevalence of ASD traits in individuals with psychiatric disorders, particularly in young adults, who are at an age where several mental health conditions emerge. The aim of this study was to evaluate the prevalence of ASD traits in a sample of young adults (18–24 years old) attending a generalized mental health outpatient clinic. Methods: A total of 259 young adult patients completed the self-report screening questionnaires Autism Quotient (AQ) and Ritvo Autism and Asperger Diagnostic Scale-Revised (RAADS-R). Results: A total of 16.2% of our sample scored above the cut-off in both scales; this percentage decreased to 13.13% when restricting the RAADS-R cut-off to >119, as suggested for clinical samples. The association with sociodemographic features is discussed. Conclusions: We argue that screening for autistic traits should be integrated into the assessment of young adults presenting with nonspecific psychiatric symptoms or psychological distress. Although there is ongoing debate over the use of self-report screening tools, a positive result on both the AQ and RAADS-R should prompt clinicians to pursue a comprehensive diagnostic evaluation using structured or semi-structured interviews. Full article

Background: Some individuals have a normal audiogram but have listening difficulties (LiD). As many studies have investigated the relationship between listening and developmental disorders, the traits of developmental disorders might explain the symptoms of LiD. In this study, we examined the traits of developmental disorders of adults with LiD to help clarify the cause of LiD symptoms. Methods: In total, 60 adults with LiD and 57 adults without LiD were included. Participants completed a questionnaire for the autism spectrum quotient (AQ) test, the Adult Attention-Deficit Hyperactivity Disorder Self-Rating Scale (A-ADHD), the Adolescent/Adult Sensory Profile (SP), and the severity of subjective LiD in daily life. Results: Before analysis, we excluded participants with LiD who were already diagnosed or met the criteria for autism spectrum disorder (ASD) or ADHD, and the results of the remaining 30 participants (50.0%) with LiD were analyzed. Adults with LiD showed higher scores than those without LiD in the AQ. Attention switching in the AQ and attention ability in the A-ADHD scale were correlated with the severity of LiD symptoms in everyday life. The AQ scores were also significantly correlated with subscales of the SP. Conclusions: Adults with LiD showed greater autistic traits than those without LiD; therefore, LiD symptoms are possibly related to autistic symptoms. Furthermore, adults with LiD might have attention disorder traits of both ASD and ADHD and sensory processing problems. These findings suggest that the attention problems in adults with LiD noted in previous studies might be related to these traits of developmental disorders. Full article

Background/Objectives: The purposes of the present study were to assess gait by using a novel approach that plots two adjacent joint angles and the postural control in individuals with autism (ASD) and individuals with typical neurodevelopmental (TD). Methods: The surface electromyography (sEMG) activity was measured synchronously with the other variables. Twenty young adult men, 10 with TD and 10 with a diagnosis of ASD, took part in this study. Results: There was a significant difference between ASD and TD groups in the area described by the knee–ankle diagram (p < 0.05). The sEMG activity recorded from the lateral gastrocnemius (LG) during the contact phase of gait was significantly lower in the ASD group compared with the TD group (p < 0.05). The sEMG activity recorded in the different postural conditions showed differences in LG and tibialis anterior (TA) between the ASD and TD groups (p < 0.05). Conclusions: The knee–ankle diagram provided a sensitive and specific movement descriptor to differentiate individuals with ASD from individuals with TD. The reduced LG activation is responsible for the reduced area in the knee–ankle diagram and ‘toe-walking’ in individuals with ASD and represents the common denominator of an altered ankle strategy during locomotion and postural control. Full article

The aim of this study is to identify autism spectrum disorder (ASD) and attention-deficit–hyperactivity disorder (ADHD) traits in adolescents who experience psychotic-like experiences (PLEs), often ignored in clinical practice but widely prevalent in the general population. A total of 57 adolescents and young adults (aged between 16 and 24 years old) were recruited consecutively in the outpatient services. A total of 37 were females (64.9%), 18 were males (31.6%), and two participants (3.5%) were non-binary or gender non-conforming, with a mean age at referral of 18.26 ± 2.06. To investigate these symptoms, three sets of standardized questionnaires were used, as follows: the Autism Spectrum Quotient–short form (AQ-10), the Community Assessment of Psychic Experiences (CAPE-42), and the Adult ADHD Self-Report Scale (ASRS). We found significant associations between the ASRS and AQ-10 total scores and all CAPE scales. The model which explained the highest variance was CAPE Score’s Total Frequency score (p < 0.001). Our findings underline the importance of investigating the presence of subthreshold ASD and ADHD symptoms in clinical populations, particularly in the period of adolescence and young adulthood, to promptly identify the presence of PLEs and, thus, prevent the onset of a frank psychotic disorder, particularly in the presence of a comorbid psychopathological condition, leading to better diagnosis and treatment for individuals with two or more of these conditions. Full article

This study explores the creation and testing of a Fuzzy Inferencing System for automating preliminary referrals for autism diagnosis, utilizing membership functions aligned with the Autism Quotient 10-item questionnaire. Validated across three distinct datasets, the system demonstrated perfect accuracy in deterministic settings and an overall accuracy of 92.91% in a broad fuzzy dataset. The use of Fuzzy Logic reflects the complex and variable nature of autism diagnosis, suggesting its potential applicability in this field. While the system effectively categorized clear referral and non-referral scenarios, it faced challenges in accurately identifying cases requiring a second opinion. These results indicate the need for further refinement to enhance the efficiency and accuracy of preliminary autism screenings, pointing to future avenues for improving the system’s performance. The motivation behind this study is to address the diagnostic gap for high-functioning adults whose symptoms present in a more neurotypical manner. Many current deep learning approaches for diagnosing autism focus on quantitative datasets like fMRI and facial expressions, often overlooking behavioral traits. However, autism diagnosis still heavily relies on long histories and multi-stakeholder information from parents, teachers, doctors and behavioral experts. This research addresses the challenge of creating an automated system that can handle the nuances and variability inherent in ASD symptoms. The theoretical innovation lies in the novel application of Fuzzy Logic to interpret these subtle diagnostic indicators, providing a more systematic approach compared to traditional methods. By bridging the gap between subjective clinical evaluations and objective computational techniques, this study aims to enhance the preliminary screening process for ASD. Full article

The aim of the study is to investigate the association of alexithymia with Internet addiction and autism spectrum disorders among adolescents and young adults. The links between alexithymia, ASD and other mental disorders are still a largely unexplored topic in psychiatry. An intriguing question is to what extent alexithymia can be a component of the clinical picture of ASD, and to what extent it is an independent phenomenon often co-occurring with ASD. The study group consisted of young Poles aged 11 to 35 (n = 229), including women (n = 167; 73%), men (n = 53; 23%) and non-binary people (n = 9; 4%). The following questionnaires were used in the Polish validated version as screening tools and shared online: AQ (Autism Quotient), TAS-20 (Toronto Alexithymia Scale), IAT (Internet Addiction Test). Among the subjects, 15 people admitted that they had received an official diagnosis of ASD, while 26 people showed a significantly increased severity of autistic traits on the AQ questionnaire. People with ASD who also exhibit alexithymia features are certainly more prone to problematic use of the Internet. In contrast, such a risk in people with ASD without alexithymia is comparable to the general population. Full article

Autistic adults often face higher levels of depression, anxiety, and stress and reduced levels of quality of life and employment in comparison to their neurotypical peers. Nature-based interventions (NBIs), which utilize outdoor environments and activities for health and wellbeing outcomes, could provide possibilities to meet these various needs. This study therefore aims to identify the extent of academic literature examining NBIs for autistic adults. A scoping review of peer-reviewed articles published between 1985 and 2023 was conducted. Ten databases were systematically searched, and additional hand searching was conducted. Studies involving substantial engagement with an NBI and involving autistic adults (age ≥ 18), or developmental disability if specific diagnosis was not identified, were included. A total of seven studies were identified; however, three studies did not refer to autism specifically, identifying developmental disability more broadly. NBIs were conducted in a variety of international locations and involved a diverse range of activities and outcomes. While NBIs can provide outcomes relevant to employment, health, and wellbeing, multiple limitations and literature gaps are noted. The findings indicate a strong need for further research specific to autism. Full article

ASD (autism spectrum disorder) is a complex developmental and neurological disorder that impacts the social life of the affected person by disturbing their capability for interaction and communication. As it is a behavioural disorder, early treatment will improve the quality of life of ASD patients. Traditional screening is carried out with behavioural assessment through trained physicians, which is expensive and time-consuming. To resolve the issue, several conventional methods strive to achieve an effective ASD identification system, but are limited by handling large data sets, accuracy, and speed. Therefore, the proposed identification system employed the MBA (modified bat) algorithm based on ANN (artificial neural networks), modified ANN (modified artificial neural networks), DT (decision tree), and KNN (k-nearest neighbours) for the classification of ASD in children and adolescents. A BA (bat algorithm) is utilised for the automatic zooming capability, which improves the system’s efficacy by excellently finding the solutions in the identification system. Conversely, BA is effective in the identification, it still has certain drawbacks like speed, accuracy, and falls into local extremum. Therefore, the proposed identification system modifies the BA optimisation with random perturbation of trends and optimal orientation. The dataset utilised in the respective model is the Q-chat-10 dataset. This dataset contains data of four stages of age groups such as toddlers, children, adolescents, and adults. To analyse the quality of the dataset, dataset evaluation mechanism, such as the Chi-Squared Statistic and p-value, are used in the respective research. The evaluation signifies the relation of the dataset with respect to the proposed model. Further, the performance of the proposed detection system is examined with certain performance metrics to calculate its efficiency. The outcome revealed that the modified ANN classifier model attained an accuracy of 1.00, ensuring improved performance when compared with other state-of-the-art methods. Thus, the proposed model was intended to assist physicians and researchers in enhancing the diagnosis of ASD to improve the standard of life of ASD patients. Full article

This study aims to compare the experiences of women and men of different age groups with regard to their first autism spectrum disorder (ASD) diagnosis, symptoms, treatment, and gender roles to inform our understanding in clinical practice of differences as well as similarities. Semi-structured interviews were conducted amongst 22 women (n = 12) and men (n = 10) in three adult age groups regarding their diagnostic process, symptoms, treatment, and gender roles. Participants also filled out questionnaires on gender traits, social support, coping, and quality of life. Framework analysis guidelines were followed to identify subthemes within the three pre-defined key themes of the semi-structured interviews, and quantitative analyses were performed on the questionnaire results. Women often had caregiver roles and were more focused on social and family-oriented life aspects than men. Family and societal expectations may have been different for women from an early age onward and were considered burdensome by some, but not all. Views on ASD diagnosis, symptoms, and treatment were largely individually determined. The questionnaire results mostly showed no significant sex differences. Perceived gender roles differed between participants. In diagnosis and treatment, awareness of general gender differences and gender roles is important, but inter-individual differences and similar experiences in men should not be overlooked. Full article

Autism is a relatively common neurodevelopmental condition that affects social communication and behavior, affecting the overall quality of life. The prevalence of autism is constantly increasing, but timely diagnosis allows for effective treatment. The aim of our research was to construct a Russian version of the RAADS-14, a brief self-report questionnaire originally designed for autism screening, and to perform its initial validation to provide a reference point in developing autism self-assessment tools for the Russian-speaking population. Psychometric properties of the RAADS-14 Rus were evaluated on a sample of 1724 participants, including a general sample of non-psychiatric young adults (n = 794) and adults with clinically established ASD (n = 49); a brief Russian inventory assessing Big Five personality traits (FFQ) was administered to a part of the sample (n = 364) to provide the first assessment of criterion validity. Confirmatory factor analysis of the RAADS-14 Rus confirmed the factor structure of the original Swedish version yielding acceptable fit indices. The discriminating properties were substantially worse than in the original study. The correlations between the RAADS-14 Rus domain scores and the Big Five factors were similar to previously obtained findings. Overall, the results suggest that the RAADS-14 Rus can be used as a screening tool for ASD in adults with proper caution and considering its discriminating properties. Full article

Autism spectrum disorder (ASD) is a neurodevelopmental disability and recent evidence suggests that autistic adults are more likely to develop Alzheimer’s disease (Alz) and other dementias compared to neurotypical (NT) adults. The ε4-allele of the Apolipoprotein E (APOE) gene is the strongest genetic risk factor for Alz and negatively impacts cognition in middle-aged and older (MA+) adults. This study aimed to determine the impact of the APOE ε4-allele on verbal learning and memory in MA+ autistic adults (ages 40–71 years) compared to matched NT adults. Using the Auditory Verbal Learning Test (AVLT), we found that ε4 carriers performed worse on short-term memory and verbal learning across diagnosis groups, but there was no interaction with diagnosis. In exploratory analyses within sex and diagnosis groups, only autistic men carrying APOE ε4 showed worse verbal learning (p = 0.02), compared to autistic men who were not carriers. Finally, the APOE ε4-allele did not significantly affect long-term memory in this sample. These findings replicate previous work indicating that the APOE ε4-allele negatively impacts short-term memory and verbal learning in MA+ adults and presents new preliminary findings that MA+ autistic men may be vulnerable to the effects of APOE ε4 on verbal learning. Future work with a larger sample is needed to determine if autistic women may also be vulnerable. Full article