搜索结果：Research in autism spectrum disorders

Children with autism spectrum disorder (ASD) experience challenges in grasping social-emotional cues, which can result in difficulties in recognizing emotions and understanding and responding to social interactions. Social-emotional intervention is an effective method to improve emotional understanding and facial expression recognition among individuals with ASD. Existing work emphasizes the importance of personalizing interventions to meet individual needs and motivate engagement for optimal outcomes in daily settings. We design a social-emotional game for ASD children, which generates personalized stories by leveraging the current advancement of artificial intelligence. Via a co-design process with five domain experts, this work offers several design insights into developing future AI-enabled gamified systems for families with autistic children. We also propose a fine-tuned AI model and a dataset of social stories for different basic emotions.

Approximately 1 in 100 children worldwide are diagnosed with Autism Spectrum Disorder (ASD), and 46% to 89% experience significant feeding difficulties. Although mobile health (mHealth) applications offer potential support for caregivers, the quality and relevance of apps targeting autism-related feeding issues remain unclear. This systematic review evaluated mobile applications available on the Apple App Store and the Google Play Store between September and October 2024. The searches were carried out using 15 predefined terms (e.g., "child autism feeding", "child autism food"). Applications were eligible if they were in English, free to download, updated within the past year, explicitly addressed feeding in children with autism, accessible in Africa, and had more than 100 downloads. Of the 326 apps identified, only two iOS applications met all inclusion criteria; no Android apps qualified. Behavior Change Wheel (BCW) analysis showed that the selected applications incorporated multiple intervention functions, such as education, training, enablement, incentivization, and modeling, though none addressed the full spectrum of behavioral strategies. Mobile App Rating Scale (MARS) indica

Autism spectrum disorder (ASD) can be defined as a neurodevelopmental disorder that affects how children interact, communicate and socialize with others. This disorder can occur in a broad spectrum of symptoms, with varying effects and severity. While there is no permanent cure for ASD, early detection and proactive treatment can substantially improve the lives of many children. Current methods to accurately diagnose ASD are invasive, time-consuming, and tedious. They can also be subjective perspectives of a number of clinicians involved, including pediatricians, speech pathologists, psychologists, and psychiatrists. New technologies are rapidly emerging that include machine learning models using speech, computer vision from facial, retinal, and brain MRI images of patients to accurately and timely detect this disorder. Our research focuses on computational linguistics and machine learning using speech data from TalkBank, the world's largest spoken language database. We used data of both ASD and Typical Development (TD) in children from TalkBank to develop machine learning models to accurately predict ASD. More than 50 features were used from specifically two datasets in TalkBank t

Clinical videos in the context of Autism Spectrum Disorder are often long-form interactions between children and caregivers/clinical professionals, encompassing complex verbal and non-verbal behaviors. Objective analyses of these videos could provide clinicians and researchers with nuanced insights into the behavior of children with Autism Spectrum Disorder. Manually coding these videos is a time-consuming task and requires a high level of domain expertise. Hence, the ability to capture these interactions computationally can augment the manual effort and enable supporting the diagnostic procedure. In this work, we investigate the use of foundation models across three modalities: speech, video, and text, to analyse child-focused interaction sessions. We propose a unified methodology to combine multiple modalities by using large language models as reasoning agents. We evaluate their performance on two tasks with different information granularity: activity recognition and abnormal behavior detection. We find that the proposed multimodal pipeline provides robustness to modality-specific limitations and improves performance on the clinical video analysis compared to unimodal settings.

Diagnosing language disorders associated with autism is a complex challenge, often hampered by the subjective nature and variability of traditional assessment methods. Traditional diagnostic methods not only require intensive human effort but also often result in delayed interventions due to their lack of speed and precision. In this study, we explored the application of ChatGPT, a large language model, to overcome these obstacles by enhancing sensitivity and profiling linguistic features for autism diagnosis. This research utilizes ChatGPT natural language processing capabilities to simplify and improve the diagnostic process, focusing on identifying autism related language patterns. Specifically, we compared ChatGPT performance with that of conventional supervised learning models, including BERT, a model acclaimed for its effectiveness in various natural language processing tasks. We showed that ChatGPT substantially outperformed these models, achieving over 10% improvement in both sensitivity and positive predictive value, in a zero shot learning configuration. The findings underscore the model potential as a diagnostic tool, combining accuracy and applicability. We identified t

Autism Spectrum Disorder (ASD) involves diverse neurodevelopmental syndromes with significant deficits in communication, motor behaviours, emotional and social comprehension. Often, individuals with ASD exhibit comorbid conditions, one of the most prevalent being depression characterized by a persistent change in mood and diminished interest in previously enjoyable activities. Due to communicative challenges and lack of appropriate assessments in individuals with ASD, comorbid depression can often go undiagnosed during routine clinical examinations, which may aggravate their problems. The current literature on comorbid depression in adults with ASD is limited. Therefore, understanding the neural basis of the comorbid psychopathology of depression in ASD is crucial for identifying objective brain-based markers for its timely and effective management. Towards this end, using structural MRI and phenotypic data from the Autism Brain Imaging Data Exchange II (ABIDE II) repository, we specifically examined the pattern of relationship regional grey matter volume (rGMV) has with comorbid depression and autism severity within regions of a priori interest in adults with ASD (n = 44). The sev

Purpose : Because functional MRI (fMRI) data sets are in general small, we sought a data efficient approach to resting state fMRI classification of autism spectrum disorder (ASD) versus neurotypical (NT) controls. We hypothesized that a Deep Reinforcement Learning (DRL) classifier could learn effectively on a small fMRI training set. Methods : We trained a Deep Reinforcement Learning (DRL) classifier on 100 graph-label pairs from the Autism Brain Imaging Data Exchange (ABIDE) database. For comparison, we trained a Supervised Deep Learning (SDL) classifier on the same training set. Results : DRL significantly outperformed SDL, with a p-value of 2.4 x 10^(-7). DRL achieved superior results for a variety of classifier performance metrics, including an F1 score of 76, versus 67 for SDL. Whereas SDL quickly overfit the training data, DRL learned in a progressive manner that generalised to the separate testing set. Conclusion : DRL can learn to classify ASD versus NT in a data efficient manner, doing so for a small training set. Future work will involve optimizing the neural network for data efficiency and applying the approach to other fMRI data sets, namely for brain cancer patients.

Autism is one of the most important neurological disorders which leads to problems in a person's social interactions. Improvement of brain imaging technologies and techniques help us to build brain structural and functional networks. Finding networks topology pattern in each of the groups (autism and healthy control) can aid us to achieve an autism disorder screening model. In the present study, we have utilized the genetic algorithm to extract a discriminative sub-network that represents differences between two groups better. In the fitness evaluation phase, for each sub-network, a machine learning model was trained using various entropy features of the sub-network and its performance was measured. Proper model performance implies extracting a good discriminative sub-network. Network entropies can be used as network topological descriptors. The evaluation results indicate the acceptable performance of the proposed screening method based on extracted discriminative sub-networks and the machine learning models succeeded in obtaining a maximum accuracy of 73.1% in structural networks of the UCLA dataset, 82.2% in functional networks of the UCLA dataset, and 66.1% in functional networ

Autism Spectrum Disorder (ASD) is a multi-factorial neurodevelopmental disorder, whose causes are still poorly understood. Effective therapies to reduce all the heterogeneous symptoms of the disorder do not exists yet, but behavioural programs started at a very young age may improve the quality of life of the patients. For this reason, many efforts have been dedicated to the research of a reliable biomarker for early diagnosis. Machine learning approaches to distinguish ASDs from healthy controls based on their brain Magnetic Resonance Images (MRIs) have been plagued by the problem of confounders, showing poor classification performance and inconsistency in the biomarker definition. Brain transcriptomics studies, instead, showed some converging results, but being based on data that can be acquired only post-mortem they are not useful for diagnosis. In this work, using an imaging transcriptomics approach, the following results have been obtained. 1) A deep learning based classifier resilient to confounders and able to exploit the temporal dimension of resting state functional MRIs has been developed, reaching an AUC of 0.89 on an independent test set. 2) Five gene network modules in

While the prevalence of Autism Spectrum Disorder (ASD) is increasing, research continues in an effort to identify common etiological and pathophysiological bases. In this regard, modern machine learning and network science pave the way for a better understanding of the neuropathology and the development of diagnosis aid systems. The present work addresses the classification of neurotypical and ASD subjects by combining knowledge about both the structure and the functional activity of the brain. In particular, we model the brain structure as a graph, and the resting-state functional MRI (rs-fMRI) signals as values that live on the nodes of that graph. We then borrow tools from the emerging field of Graph Signal Processing (GSP) to build features related to the frequency content of these signals. In order to make these features highly discriminative, we apply an extension of the Fukunaga-Koontz transform. Finally, we use these new markers to train a decision tree, an interpretable classification scheme, which results in a final diagnosis aid model. Interestingly, the resulting decision tree outperforms state-of-the-art methods on the publicly available Autism Brain Imaging Data Excha

Changes in genetic and/or environmental factors to developing neural circuits and subsequent synaptic functions are known to be a causative underlying the varied socio-emotional behavioural patterns associated with autism spectrum disorders (ASD). Seven transmembrane G protein-coupled receptors (GPCRs) comprising the largest family of cell-surface receptors, mediate the transfer of extracellular signals to downstream cellular responses. Disruption of GPCR and their signalling have been implicated as a convergent pathologic mechanism of ASD. Here, we aim to review the literature about the 23 GPCRs that are genetically associated to ASD pathology according to Simons Foundation Autism Research Initiative (SFARI) database such as oxytocin (OXTR) and vasopressin (V1A, V1B) receptors, metabotropic glutamate (mGlu5, mGlu7) and gamma-aminobutyric acid (GABAB) receptors, dopamine (D1, D2), serotoninergic (5-HT1B and additionally included the 5-HT2A, 5-HT7 receptors for their strong relevance to ASD), adrenergic ($β$2) and cholinergic (M3) receptors, adenosine (A2A, A3) receptors, angiotensin (AT2) receptors, cannabinoid (CB1) receptors, chemokine (CX3CR1) receptors, orphan (GPR37, GPR85) an

Autism spectrum disorder is one of the leading neurodevelopmental disorders in our world, present in over 1% of the population and rapidly increasing in prevalence, yet the condition lacks a robust, objective, and efficient diagnostic. Clinical diagnostic criteria rely on subjective behavioral assessments, which are prone to misdiagnosis as they face limitations in terms of their heterogeneity, specificity, and biases. This study proposes a novel convolutional neural network-based classification tool that aims to identify the potential of different neuroimaging features as autism biomarkers. The model is constructed using a set of sequential layers specifically designed to extract relevant features from brain imaging data. Trained and tested on over 300,000 distinct features across three imaging types, the model shows promise in classifying individuals with autism from typical controls, outperforming metrics of current gold standard diagnostics by achieving an accuracy of 95.4% on a dataset of 1,111 samples with 521 autistic subjects (260 male and 261 female) and 590 controls (297 male and 293 female). 32 optimal features from the training data were identified and classified as can

Non-invasive brain imaging techniques allow understanding the behavior and macro changes in the brain to determine the progress of a disease. However, computational pathology provides a deeper understanding of brain disorders at cellular level, able to consolidate a diagnosis and make the bridge between the medical image and the omics analysis. In traditional histopathology, histology slides are visually inspected, under the microscope, by trained pathologists. This process is time-consuming and labor-intensive; therefore, the emergence of Computational Pathology has triggered great hope to ease this tedious task and make it more robust. This chapter focuses on understanding the state-of-the-art machine learning techniques used to analyze whole slide images within the context of brain disorders. We present a selective set of remarkable machine learning algorithms providing discriminative approaches and quality results on brain disorders. These methodologies are applied to different tasks, such as monitoring mechanisms contributing to disease progression and patient survival rates, analyzing morphological phenotypes for classification and quantitative assessment of disease, improvin

Mental disorders such as Autism Spectrum Disorders (ASD) are heterogeneous disorders that are notoriously difficult to diagnose, especially in children. The current psychiatric diagnostic process is based purely on the behavioural observation of symptomology (DSM-5/ICD-10) and may be prone to over-prescribing of drugs due to misdiagnosis. In order to move the field towards more quantitative fashion, we need advanced and scalable machine learning infrastructure that will allow us to identify reliable biomarkers of mental health disorders. In this paper, we propose a framework called ASD-DiagNet for classifying subjects with ASD from healthy subjects by using only fMRI data. We designed and implemented a joint learning procedure using an autoencoder and a single layer perceptron which results in improved quality of extracted features and optimized parameters for the model. Further, we designed and implemented a data augmentation strategy, based on linear interpolation on available feature vectors, that allows us to produce synthetic datasets needed for training of machine learning models. The proposed approach is evaluated on a public dataset provided by Autism Brain Imaging Data Exc

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder (NDD) that is caused by genetic, epigenetic, and environmental factors. Recent advances in genomic analysis have uncovered numerous candidate genes with common and/or rare mutations that increase susceptibility to ASD. In addition, there is increasing evidence that copy number variations (CNVs), single nucleotide polymorphisms (SNPs), and unusual de novo variants negatively affect neurodevelopment pathways in various ways. The overall rate of copy number variants found in patients with autism is 10%-20%, of which 3%-7% can be detected cytogenetically. Although the role of submicroscopic CNVs in ASD has been studied recently, their association with genomic loci and genes has not been properly studied. In this review, we focus on 47 ASD-associated CNV regions and their related genes. Here, we identify 1,632 protein-coding genes and long non-coding RNAs (lncRNAs) within these regions. Among them, 552 are significantly expressed in the brain. Using a list of ASD-associated genes from SFARI, we detect 17 regions containing at least one known ASD-associated protein-coding genes. Of the remaining 30 regions, we

In this study, we present a quantitative and comprehensive analysis of social gaze in people with autism spectrum disorder (ASD). Diverging from traditional first-person camera perspectives based on eye-tracking technologies, this study utilizes a third-person perspective database from the Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) interview videos, encompassing ASD participants and neurotypical individuals as a reference group. Employing computational models, we extracted and processed gaze-related features from the videos of both participants and examiners. The experimental samples were divided into three groups based on the presence of social gaze abnormalities and ASD diagnosis. This study quantitatively analyzed four gaze features: gaze engagement, gaze variance, gaze density map, and gaze diversion frequency. Furthermore, we developed a classifier trained on these features to identify gaze abnormalities in ASD participants. Together, we demonstrated the effectiveness of analyzing social gaze in people with ASD in naturalistic settings, showcasing the potential of third-person video perspectives in enhancing ASD diagnosis through gaze analysis.

Brain development relies on both experience and genetically defined programs. Time windows where certain brain circuits are particularly receptive to external stimuli, resulting in heightened plasticity, are referred to as critical periods. Sleep is thought to be essential for normal brain development. Importantly, studies have shown that sleep enhances critical period plasticity and promotes experience-dependent synaptic pruning in the developing mammalian brain. Therefore, normal plasticity during critical periods depends on proper sleep. Problems falling and staying asleep occur at a higher rate in Autism Spectrum Disorder (ASD) relative to typical development. In this review, we explore the potential link between sleep, critical period plasticity, and ASD. First, we review the importance of critical period plasticity in typical development and the role of sleep in this process. Next, we summarize the evidence linking ASD with deficits in synaptic plasticity in rodent models of high-confident ASD gene candidates. We then show that almost all the high-confidence rodent models of ASD that show sleep deficits also display plasticity deficits. Given how important sleep is for critic

Autism spectrum condition (ASC) or autism spectrum disorder (ASD) is primarily identified with the help of behavioral indications encompassing social, sensory and motor characteristics. Although categorized, recurring motor actions are measured during diagnosis, quantifiable measures that ascertain kinematic physiognomies in the movement configurations of autistic persons are not adequately studied, hindering the advances in understanding the etiology of motor mutilation. Subject aspects such as behavioral characters that influences ASD need further exploration. Presently, limited autism datasets concomitant with screening ASD are available, and a majority of them are genetic. Hence, in this study, we used a dataset related to autism screening enveloping ten behavioral and ten personal attributes that have been effective in diagnosing ASD cases from controls in behavior science. ASD diagnosis is time exhaustive and uneconomical. The burgeoning ASD cases worldwide mandate a need for the fast and economical screening tool. Our study aimed to implement an artificial neural network with the Levenberg-Marquardt algorithm to detect ASD and examine its predictive accuracy. Consecutively,

Autism spectrum disorder (ASD) is a brain condition characterized by diverse signs and symptoms that appear in early childhood. ASD is also associated with communication deficits and repetitive behavior in affected individuals. Various ASD detection methods have been developed, including neuroimaging modalities and psychological tests. Among these methods, magnetic resonance imaging (MRI) imaging modalities are of paramount importance to physicians. Clinicians rely on MRI modalities to diagnose ASD accurately. The MRI modalities are non-invasive methods that include functional (fMRI) and structural (sMRI) neuroimaging methods. However, diagnosing ASD with fMRI and sMRI for specialists is often laborious and time-consuming; therefore, several computer-aided design systems (CADS) based on artificial intelligence (AI) have been developed to assist specialist physicians. Conventional machine learning (ML) and deep learning (DL) are the most popular schemes of AI used for diagnosing ASD. This study aims to review the automated detection of ASD using AI. We review several CADS that have been developed using ML techniques for the automated diagnosis of ASD using MRI modalities. There has