Search Results (16)

SYNGAP1-related disorder is a rare neurodevelopmental disorder characterized by intellectual and motor disabilities, including disordered gait control. Currently, there have been few studies that have assessed the gait of individuals with SYNGAP1-related disorder using technology-based collection techniques. The purpose of this investigation was to characterize the kinematic gait pattern of these individuals using camera-based motion capture technology during treadmill walking. Both linear and non-linear analysis techniques were used to analyze bilateral lower-limb joint motion and compare the results to age-matched neurotypical individuals. Results indicate that joint range of motion and velocity were decreased in the patient population relative to the neurotypical participants with the non-linear measures of angle–angle and phase portrait areas reflecting similar outcomes. The combination of linear and non-linear measures provide complementary information that, when used in combination, can provide deeper insights into the coordination and control of gait than if either of the measurement techniques are used in isolation. Such information can be useful to clinicians and therapists to develop targeted interventions designed to improve the gait of individuals with SYNGAP1-related disorder. 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

The enactive approach offers a powerful theoretical lens for designing artificial intelligence (AI) systems intended to support the health and well-being of non-neurotypical individuals, including those on the autism spectrum and those with with ADHD, dyslexia, or other forms of neurodivergence. By emphasizing embodiment, relationality, and participatory sense-making, enactivism encourages AI-based interventions that are highly personalized, context-sensitive, and ethically aware. This paper explores how existing AI applications—ranging from socially assistive robots and virtual reality (VR) therapies to language-processing apps and personalized treatment planning—may be enhanced by incorporating enactivist principles. Despite their promise, practical adoption of AI technologies in real-world clinical practice remains limited, and persistent challenges such as algorithmic bias, privacy concerns, and the tendency to overlook subjective dimensions raise cautionary notes. Drawing on relevant philosophical literature, empirical studies, and cross-disciplinary debates (including the friction and potential synergies between predictive processing and enactivism), we argue that AI solutions grounded in enactivist thinking can more effectively honor user autonomy, acknowledge the embodied nature of neurodiverse cognition, and avoid reductive standardizations. This expanded, revised version integrates insights on neurodiversity, mental health paradigms, and the ethical imperatives of AI deployment, thereby offering a more comprehensive roadmap for researchers, clinicians, and system developers alike. Full article

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social interaction and communication. While many studies suggest that individuals with ASD struggle with emotion processing, the association between emotion processing and autistic traits in non-clinical populations is still unclear. We examine whether neurotypical adults’ facial emotion recognition and expression imitation are associated with autistic traits. We recruited 32 neurotypical adults; each received two computerized tasks, the Dynamic Emotion Recognition and Expression Imitation, and two standardized measures: the Chinese version AQ and the Twenty-Item Prosopagnosia Index (PI-20). Results for the dynamic emotion recognition showed that happiness has the highest mean accuracy, followed by surprise, sadness, anger, fear, and disgust. For expression imitation, it was easiest to imitate surprise and happiness, followed by disgust, while the accuracy of imitating sadness, anger, and fear was much lower. Importantly, individual AQ scores negatively correlated with emotion recognition accuracy and positively correlated with PI-20. The AQ imagination, communication sub-scores, and PI-20 positively correlated with the expression imitation of surprise. In summary, we found a significant link between recognizing emotional expressions and the level of autistic traits in non-clinical populations, supporting the concept of broader autism phenotype. Full article

Background: Transcranial electrical stimulation (tES) generates an electric field (or current density) in the brain through surface electrodes attached to the scalp. Clinical significance has been demonstrated, although with moderate and heterogeneous results partly due to a lack of control of the delivered electric currents. In the last decade, computational electric field analysis has allowed the estimation and optimization of the electric field using accurate anatomical head models. This review examines recent tES computational studies, providing a comprehensive background on the technical aspects of adopting computational electric field analysis as a standardized procedure in medical applications. Methods: Specific search strategies were designed to retrieve papers from the Web of Science database. The papers were initially screened based on the soundness of the title and abstract and then on their full contents, resulting in a total of 57 studies. Results: Recent trends were identified in individual- and population-level analysis of the electric field, including head models from non-neurotypical individuals. Advanced optimization techniques that allow a high degree of control with the required focality and direction of the electric field were also summarized. There is also growing evidence of a correlation between the computationally estimated electric field and the observed responses in real experiments. Conclusions: Computational pipelines and optimization algorithms have reached a degree of maturity that provides a rationale to improve tES experimental design and a posteriori analysis of the responses for supporting clinical studies. Full article

Here, we review the literature on neurotypical individuals and individuals with post-stroke aphasia showing that right-hemisphere regions homologous to language network and other regions, like the right cerebellum, are activated in language tasks and support language even in healthy people. We propose that language recovery in post-stroke aphasia occurs largely by potentiating the right hemisphere network homologous to the language network and other networks that previously supported language to a lesser degree and by modulating connection strength between nodes of the right-hemisphere language network and undamaged nodes of the left-hemisphere language network. Based on this premise (supported by evidence we review), we propose that interventions should be aimed at potentiating the right-hemisphere language network through Hebbian learning or by augmenting connections between network nodes through neuroplasticity, such as non-invasive brain stimulation and perhaps modulation of neurotransmitters involved in neuroplasticity. We review aphasia treatment studies that have taken this approach. We conclude that further aphasia rehabilitation with this aim is justified. Full article

Plantarflexor central drive is a promising biomarker of neuromotor impairment; however, routine clinical assessment is hindered by the unavailability of force measurement systems with integrated neurostimulation capabilities. In this study, we evaluate the accuracy of a portable, neurostimulation-integrated, plantarflexor force measurement system we developed to facilitate the assessment of plantarflexor neuromotor function in clinical settings. Two experiments were conducted with the Central Drive System (CEDRS). To evaluate accuracy, experiment #1 included 16 neurotypical adults and used intra-class correlation (ICC_2,1) to test agreement of plantarflexor strength capacity measured with CEDRS versus a stationary dynamometer. To evaluate validity, experiment #2 added 26 individuals with post-stroke hemiparesis and used one-way ANOVAs to test for between-limb differences in CEDRS’ measurements of plantarflexor neuromotor function, comparing neurotypical, non-paretic, and paretic limb measurements. The association between paretic plantarflexor neuromotor function and walking function outcomes derived from the six-minute walk test (6MWT) were also evaluated. CEDRS’ measurements of plantarflexor neuromotor function showed high agreement with measurements made by the stationary dynamometer (ICC = 0.83, p < 0.001). CEDRS’ measurements also showed the expected between-limb differences (p’s < 0.001) in maximum voluntary strength (Neurotypical: 76.21 ± 13.84 ft-lbs., Non-paretic: 56.93 ± 17.75 ft-lbs., and Paretic: 31.51 ± 14.08 ft-lbs.), strength capacity (Neurotypical: 76.47 ± 13.59 ft-lbs., Non-paretic: 64.08 ± 14.50 ft-lbs., and Paretic: 44.55 ± 14.23 ft-lbs.), and central drive (Neurotypical: 88.73 ± 1.71%, Non-paretic: 73.66% ± 17.74%, and Paretic: 52.04% ± 20.22%). CEDRS-measured plantarflexor central drive was moderately correlated with 6MWT total distance (r = 0.69, p < 0.001) and distance-induced changes in speed (r = 0.61, p = 0.002). CEDRS is a clinician-operated, portable, neurostimulation-integrated force measurement platform that produces accurate measurements of plantarflexor neuromotor function that are associated with post-stroke walking ability. Full article

Anomalies of attentional selection have been repeatedly described in individuals with schizophrenia spectrum disorders. However, a precise analysis of their ability to inhibit irrelevant visual information during attentional selection is not documented. Recent behavioral as well as neurophysiological and computational evidence showed that attentional search among different competing stimuli elicits an area of suppression in the immediate surrounding of the attentional focus. In the present study, the strength and spatial extension of this surround suppression were tested in individuals with schizophrenia and neurotypical controls. Participants were asked to report the orientation of a visual “pop-out” target, which appeared in different positions within a peripheral array of non-target stimuli. In half of the trials, after the target appeared, a probe circle circumscribed a non-target stimulus at various target-to-probe distances; in this case, participants were asked to report the probe orientation instead. Results suggest that, as compared to neurotypical controls, individuals with schizophrenia showed stronger and spatially more extended filtering of visual information in the areas surrounding their attentional focus. This increased filtering of visual information outside the focus of attention might potentially hamper their ability to integrate different elements into coherent percepts and influence higher order behavioral, affective, and cognitive domains. Full article

The social salience hypothesis proposes that the neuropeptide oxytocin (OT) can impact human social behavior by modulating the salience of social cues. Here, frequency-tagging EEG was used to quantify the neural responses to social versus non-social stimuli while administering a single dose of OT (24 IU) versus placebo treatment. Specifically, two streams of faces and houses were superimposed on one another, with each stream of stimuli tagged with a particular presentation rate (i.e., 6 and 7.5 Hz or vice versa). These distinctive frequency tags allowed unambiguously disentangling and objectively quantifying the respective neural responses elicited by the different streams of stimuli. This study involved a double-blind, placebo-controlled, cross-over trial with 31 healthy adult men. Based on four trials of 60 s, we detected robust frequency-tagged neural responses in each individual, with entrainment to faces being more pronounced in lateral occipito-temporal regions and entrainment to houses being focused in medial occipital regions. However, contrary to our expectation, a single dose of OT did not modulate these stimulus-driven neural responses, not in terms of enhanced social processing nor in terms of generally enhanced information salience. Bayesian analyses formally confirmed these null findings. Possibly, the baseline ceiling level performance of these neurotypical adult participants as well as the personal irrelevance of the applied stimulation streams might have hindered the observation of any OT effect. Full article

Despite the fact that the urge to investigate bilingualism and neurodevelopmental disorders as continuous indices rather than categorical ones has been well-voiced among researchers with respect to research methodological approaches, in the recent literature, when it comes to examining language, cognitive skills and neurodivergent characteristics, it is still the case that the most prevalent view is the categorisation of adults or children into groups. In other words, there is a categorisation of individuals, e.g., monolingual vs. bilingual children or children with typical and atypical/non-typical/non-neurotypical development. We believe that this labelling is responsible for the conflicting results that we often come across in studies. The aim of this review is to bring to the surface the importance of individual differences through the study of relevant articles conducted in bilingual children and children with autism, who are ideal for this study. We concur with researchers who already do so, and we further suggest moving away from labels and instead shift towards the view that not everything is either white or black. We provide suggestions as to how this shift could be implemented in research, while mostly aiming at starting a discourse rather than offering a definite path. Full article

Background: Autism spectrum disorders are neurodevelopmental disorders characterized by deficits in social and communication functioning. Previous studies suggest that people with autism spectrum disorders have deficits in executive functions, having found a relationship with cognitive flexibility, planning, working memory, inhibition or self-control, but it is especially with respect to cognitive flexibility where the greatest dysfunctions have been found. The objective of this research was to compare the executive functioning of a group of children and adolescents diagnosed with autism spectrum disorders with another with neurotypical development in an educational context. Methods: This was a cross-sectional, descriptive and multicenter confirmatory study in which 121 people who participated acted as informants, with 70 of them being education professionals who work with people with autism spectrum disorders grade 1 and 2 and 51 of them being teachers who work with people of neurotypical development; these individuals were selected through non-probabilistic sampling. Results: People diagnosed with autism spectrum disorders obtained significantly higher scores on the Behavior Rating Inventory of Executive Function-2 scale for the nine clinical scales and the four indexes that compose it compared to the group of people with neurotypical development; in addition, the average scores obtained are clinically significant, with them being elevated for the group with autism spectrum disorders. This study confirms that children and adolescents with autism spectrum disorders experience greater difficulties with respect to their executive functions than children with neurotypical development. Full article

Autism spectrum disorders (ASD) are a group of complex neurodevelopmental disorders, characterized by a deficit in social interaction and communication. Many genetic variants are associated with ASD, including duplication of 7q11.23 encompassing 26–28 genes. Symmetrically, the hemizygous deletion of 7q11.23 causes Williams–Beuren syndrome (WBS), a multisystem disorder characterized by “hyper-sociability” and communication skills. Interestingly, deletion of four non-exonic mobile elements (MEs) in the “canine WBS locus” were associated with the behavioral divergence between the wolf and the dog and dog sociability and domestication. We hypothesized that indel of these MEs could be involved in ASD, associated with its different phenotypes and useful as biomarkers for patient stratification and therapeutic design. Since these MEs are non-exonic they have never been discovered before. We searched the corresponding MEs and loci in humans by comparative genomics. Interestingly, they mapped on different but ASD related genes. The loci in individuals with phenotypically different autism and neurotypical controls were amplified by PCR. A sub-set of each amplicon was sequenced by Sanger. No variant resulted associated with ASD and neither specific phenotypes were found but novel small-scale insertions and SNPs were discovered. Since MEs are hyper-methylated and epigenetically modulate gene expression, further investigation in ASD is necessary. Full article

The diagnostic process for autism spectrum disorders (ASD) is based on a behavioral analysis of the suspected individual. Despite intensive research, no specific and valid biomarker has been identified for ASD, but saliva, with its advantages such as non-invasive collection, could serve as a suitable alternative to other body fluids. As a source of nucleic acid of both human and microbial origin, protein and non-protein molecules, saliva offers a complex view on the current state of the organism. Additionally, the use of salivary markers seems to be less complicated not only for ASD screening but also for revealing the etiopathogenesis of ASD, since enrolling neurotypical counterparts willing to participate in studies may be more feasible. The aim of the presented review is to provide an overview of the current research performed on saliva in relation to ASD, mutual complementing, and discrepancies that result in difficulties applying the observed markers in clinical practice. We emphasize the methodological limitations of saliva collection and processing as well as the lack of information regarding ASD diagnosis, which is critically discussed. Full article

Developmental dyslexia is typically defined as a difficulty with an individual’s command of written language, arising from deficits in phonological awareness. However, motor entrainment difficulties in non-linguistic synchronization and time-keeping tasks have also been reported. Such findings gave rise to proposals of an underlying rhythm processing deficit in dyslexia, even though to date, evidence for impaired motor entrainment with the rhythm of natural speech is rather scarce, and the role of speech rhythm in phonological awareness is unclear. The present study aimed to fill these gaps. Dyslexic adults and age-matched control participants with variable levels of previous music training completed a series of experimental tasks assessing phoneme processing, rhythm perception, and motor entrainment abilities. In a rhythm entrainment task, participants tapped along to the perceived beat of natural spoken sentences. In a phoneme processing task, participants monitored for sonorant and obstruent phonemes embedded in nonsense strings. Individual sensorimotor skills were assessed using a number of screening tests. The results lacked evidence for a motor impairment or a general motor entrainment difficulty in dyslexia, at least among adult participants of the study. Instead, the results showed that the participants’ performance in the phonemic task was predictive of their performance in the rhythmic task, but not vice versa, suggesting that atypical rhythm processing in dyslexia may be the consequence, but not the cause, of dyslexic difficulties with phoneme-level encoding. No evidence for a deficit in the entrainment to the syllable rate in dyslexic adults was found. Rather, metrically weak syllables were significantly less often at the center of rhythmic attention in dyslexic adults as compared to neurotypical controls, with an increased tendency in musically trained participants. This finding could not be explained by an auditory deficit in the processing of acoustic-prosodic cues to the rhythm structure, but it is likely to be related to the well-documented auditory short-term memory issue in dyslexia. Full article

Difficulties with interpersonal communication experienced by individuals with autism spectrum disorders (ASD) significantly contribute to their underrepresentation in the workforce as well as problems experienced while in employment. Consistently, it is vital to understand how communication within the employment cycle of this group can be improved. This study aims to identify and analyze the possibilities of modifying the communication processes around recruitment, selection, onboarding, and job retention to address the specific characteristics and needs of the representatives of this group. This qualitative study is based on 15 in-depth interviews conducted with 21 field experts, i.e.,: therapists, job trainers, and entrepreneurs employing people with ASD. The findings of this research informed the creation of an inclusive communication model supporting the employment cycle of individuals with ASD. The most important recommendations within the model that was created include the modification of job advertisements, use of less structured job interviews, providing opportunities for mentorship, and supportive and non-direct, electronically mediated communication. To apply the above-mentioned solutions and take full advantage of the talents of people with ASD, it is also necessary to provide tailored sensitivity and awareness training programs for their direct addressees as well as their neurotypical colleagues, including managerial staff. Full article