Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by impairments in social interaction, communication, as well as restrained or stereotyped behaviors. The inherent heterogeneity within the autism spectrum poses challenges for developing effective pharmacological treatments targeting core features. Successful clinical trials require the identification of robust markers to enable patient stratification. In this study, we explored molecular markers within the oxytocin and immediate early gene families across five interconnected brain structures of the social circuit in four distinct ASD mouse models, each exhibiting unique behavioral features along the autism spectrum. While dysregulations in the oxytocin family were model-specific, immediate early genes displayed widespread alterations, reflecting global changes in social plasticity. Through integrative analysis, we identified Egr1, Foxp1, Homer1a, Oxt and Oxtr as five robust and discriminant molecular markers facilitating successful stratification of the four models. Importantly, our stratification demonstrated predictive values when challenged with a fifth mouse model or identifying subgroups of
In this article, we introduce a novel problem of audio-visual autism behavior recognition, which includes social behavior recognition, an essential aspect previously omitted in AI-assisted autism screening research. We define the task at hand as one that is audio-visual autism behavior recognition, which uses audio and visual cues, including any speech present in the audio, to recognize autism-related behaviors. To facilitate this new research direction, we collected an audio-visual autism spectrum dataset (AV-ASD), currently the largest video dataset for autism screening using a behavioral approach. It covers an extensive range of autism-associated behaviors, including those related to social communication and interaction. To pave the way for further research on this new problem, we intensively explored leveraging foundation models and multimodal large language models across different modalities. Our experiments on the AV-ASD dataset demonstrate that integrating audio, visual, and speech modalities significantly enhances the performance in autism behavior recognition. Additionally, we explored the use of a post-hoc to ad-hoc pipeline in a multimodal large language model to investi
As artificial intelligence (AI) systems become increasingly sophisticated at generating synthetic human faces, understanding how these images are perceived across diverse populations is important. This study investigates how autistic individuals/individuals with autism perceive AI-generated faces, focusing on the uncanny valley effect. Using a qualitative approach, we analyzed discussions from the r/autism community on Reddit to explore how autistic participants/participants with autism describe their experiences with AI-generated faces and the uncanny valley phenomenon. The findings suggest that autistic people/people with autism may experience the uncanny valley differently, often reporting stronger discomfort with real human faces than with artificial ones. This research contributes to our understanding of visual perception in autism and has implications for the development of inclusive AI systems and assistive technologies.
Successful job search results from job seekers' well-shaped social communication. While well-known differences in communication exist between people with autism and neurotypicals, little is known about how people with autism collaborate with their social surroundings to strive in the job market. To better understand the practices and challenges of collaborative job seeking for people with autism, we interviewed 20 participants including applicants with autism, their social surroundings, and career experts. Through the interviews, we identified social challenges that people with autism face during their job seeking; the social support they leverage to be successful; and the technological limitations that hinder their collaboration. We designed four probes that represent major collaborative features found from the interviews--executive planning, communication, stage-wise preparation, and neurodivergent community formation--and discussed their potential usefulness and impact through three focus groups. We provide implications regarding how our findings can enhance collaborative job seeking experiences for people with autism through new designs.
Autism diagnosis presents a major challenge due to the vast heterogeneity of the condition and the elusive nature of early detection. Atypical gait and gesture patterns are dominant behavioral characteristics of autism and can provide crucial insights for diagnosis. Furthermore, these data can be collected efficiently in a non-intrusive way, facilitating early intervention to optimize positive outcomes. Existing research mainly focuses on associating facial and eye-gaze features with autism. However, very few studies have investigated movement and gesture patterns which can reveal subtle variations and characteristics that are specific to autism. To address this gap, we present an analysis of gesture and gait activity in videos to identify children with autism and quantify the severity of their condition by regressing autism diagnostic observation schedule scores. Our proposed architecture addresses two key factors: (1) an effective feature representation to manifest irregular gesture patterns and (2) a two-stream co-learning framework to enable a comprehensive understanding of its relation to autism from diverse perspectives without explicitly using additional data modality. Exper
AI-assisted molecular property prediction has become a promising technique in early-stage drug discovery and materials design in recent years. However, due to high-cost and complex wet-lab experiments, real-world molecules usually experience the issue of scarce annotations, leading to limited labeled data for effective supervised AI model learning. In light of this, few-shot molecular property prediction (FSMPP) has emerged as an expressive paradigm that enables learning from only a few labeled examples. Despite rapidly growing attention, existing FSMPP studies remain fragmented, without a coherent framework to capture methodological advances and domain-specific challenges. In this work, we present the first comprehensive and systematic survey of few-shot molecular property prediction. We begin by analyzing the few-shot phenomenon in molecular datasets and highlighting two core challenges: (1) cross-property generalization under distribution shifts, where each task corresponding to each property, may follow a different data distribution or even be inherently weakly related to others from a biochemical perspective, requiring the model to transfer knowledge across heterogeneous predi
Autism Spectrum Disorder (ASD) is a diverse collection of neurobiological conditions marked by challenges in social communication and reciprocal interactions, as well as repetitive and stereotypical behaviors. Atypical behavior patterns in a long, untrimmed video can serve as biomarkers for children with ASD. In this paper, we propose a video-based weakly-supervised method that takes spatio-temporal features of long videos to learn typical and atypical behaviors for autism detection. On top of that, we propose a shallow TCN-MLP network, which is designed to further categorize the severity score. We evaluate our method on actual evaluation videos of children with autism collected and annotated (for severity score) by clinical professionals. Experimental results demonstrate the effectiveness of behavioral biomarkers that could help clinicians in autism spectrum analysis.
Background: Human Emotion Recognition (HER) has been a popular field of study in the past years. Despite the great progresses made so far, relatively little attention has been paid to the use of HER in autism. People with autism are known to face problems with daily social communication and the prototypical interpretation of emotional responses, which are most frequently exerted via facial expressions. This poses significant practical challenges to the application of regular HER systems, which are normally developed for and by neurotypical people. Objective: This study reviews the literature on the use of HER systems in autism, particularly with respect to sensing technologies and machine learning methods, as to identify existing barriers and possible future directions. Methods: We conducted a systematic review of articles published between January 2011 and June 2023 according to the 2020 PRISMA guidelines. Manuscripts were identified through searching Web of Science and Scopus databases. Manuscripts were included when related to emotion recognition, used sensors and machine learning techniques, and involved children with autism, young, or adults. Results: The search yielded 346 ar
Autism Spectrum Disorder (autism) is a neurodevelopmental delay which affects at least 1 in 44 children. Like many neurological disorder phenotypes, the diagnostic features are observable, can be tracked over time, and can be managed or even eliminated through proper therapy and treatments. Yet, there are major bottlenecks in the diagnostic, therapeutic, and longitudinal tracking pipelines for autism and related delays, creating an opportunity for novel data science solutions to augment and transform existing workflows and provide access to services for more affected families. Several prior efforts conducted by a multitude of research labs have spawned great progress towards improved digital diagnostics and digital therapies for children with autism. We review the literature of digital health methods for autism behavior quantification using data science. We describe both case-control studies and classification systems for digital phenotyping. We then discuss digital diagnostics and therapeutics which integrate machine learning models of autism-related behaviors, including the factors which must be addressed for translational use. Finally, we describe ongoing challenges and potent o
There has been a range of studies of how autism is displayed in voice, speech, and language. We analyse studies from the biomedical, as well as the psychological domain, but also from the NLP domain in order to find linguistic, prosodic and acoustic cues that could indicate autism. Our survey looks at all three domains. We define autism and which comorbidities might influence the correct detection of the disorder. We especially look at observations such as verbal and semantic fluency, prosodic features, but also disfluencies and speaking rate. We also show word-based approaches and describe machine learning and transformer-based approaches both on the audio data as well as the transcripts. Lastly, we conclude, while there already is a lot of research, female patients seem to be severely under-researched. Also, most NLP research focuses on traditional machine learning methods instead of transformers which could be beneficial in this context. Additionally, we were unable to find research combining both features from audio and transcripts.
Infants with autism were recently found to have prolonged Auditory Brainstem Response (ABR); however, at older ages, findings are contradictory. We compared ABR differences between participants with autism and controls with respect to age using a meta-analysis. Data sources included MEDLINE, EMBASE, Web of Science, Google Scholar, HOLLIS and ScienceDirect from their inception to June 2016. The 25 studies that were included had a total of 1349 participants (727 participants with autism and 622 controls) and an age range of 0-40 years. Prolongation of wave V in autism had a significant negative correlation with age (R2=0.23; P=.01). The 22 studies below age 18 years showed a significantly prolonged wave V in autism (Standard Mean Difference=0.6 [95% CI, 0.5 to 0.8]; P<.001). The 3 studies above 18 years of age showed a significantly shorter wave V in autism (SMD=-0.6 [95% CI, -1.0 to -0.2]; P=.004). Prolonged ABR was consistent in infants and children with autism, suggesting it can serve as an autism biomarker at infancy. As the ABR is routinely used to screen infants for hearing impairment, the opportunity for replication studies is extensive.
Autism spectrum disorder (ASD) is a developmental disorder characterized by significant social communication impairments and difficulties perceiving and presenting communication cues. Machine learning techniques have been broadly adopted to facilitate autism studies and assessments. However, computational models are primarily concentrated on specific analysis and validated on private datasets in the autism community, which limits comparisons across models due to privacy-preserving data sharing complications. This work presents a novel privacy-preserving open-source dataset, MMASD as a MultiModal ASD benchmark dataset, collected from play therapy interventions of children with Autism. MMASD includes data from 32 children with ASD, and 1,315 data samples segmented from over 100 hours of intervention recordings. To promote public access, each data sample consists of four privacy-preserving modalities of data; some of which are derived from original videos: (1) optical flow, (2) 2D skeleton, (3) 3D skeleton, and (4) clinician ASD evaluation scores of children, e.g., ADOS scores. MMASD aims to assist researchers and therapists in understanding children's cognitive status, monitoring the
Autism spectrum disorder (ASD) is a neurodevelopmental disorder which results in altered behavior, social development, and communication patterns. In past years, autism prevalence has tripled, with 1 in 54 children now affected. Given that traditional diagnosis is a lengthy, labor-intensive process, significant attention has been given to developing systems that automatically screen for autism. Prosody abnormalities are among the clearest signs of autism, with affected children displaying speech idiosyncrasies including echolalia, monotonous intonation, atypical pitch, and irregular linguistic stress patterns. In this work, we present a suite of machine learning approaches to detect autism in self-recorded speech audio captured from autistic and neurotypical (NT) children in home environments. We consider three methods to detect autism in child speech: first, Random Forests trained on extracted audio features (including Mel-frequency cepstral coefficients); second, convolutional neural networks (CNNs) trained on spectrograms; and third, fine-tuned wav2vec 2.0--a state-of-the-art Transformer-based ASR model. We train our classifiers on our novel dataset of cellphone-recorded child s
The function of the organism hinges on the performance of its information-processing networks, which convey information via molecular recognition. Many paths within these networks utilize molecular codebooks, such as the genetic code, to translate information written in one class of molecules into another molecular "language" . The present paper examines the emergence and evolution of molecular codes in terms of rate-distortion theory and reviews recent results of this approach. We discuss how the biological problem of maximizing the fitness of an organism by optimizing its molecular coding machinery is equivalent to the communication engineering problem of designing an optimal information channel. The fitness of a molecular code takes into account the interplay between the quality of the channel and the cost of resources which the organism needs to invest in its construction and maintenance. We analyze the dynamics of a population of organisms that compete according to the fitness of their codes. The model suggests a generic mechanism for the emergence of molecular codes as a phase transition in an information channel. This mechanism is put into biological context and demonstrated
Autism, also known as Autism Spectrum Disorder (or ASD), is a neurological disorder. Its main symptoms include difficulty in (verbal and/or non-verbal) communication, and rigid/repetitive behavior. These symptoms are often indistinguishable from a normal (control) individual, due to which this disorder remains undiagnosed in early childhood leading to delayed treatment. Since the learning curve is steep during the initial age, an early diagnosis of autism could allow to take adequate interventions at the right time, which might positively affect the growth of an autistic child. Further, the traditional methods of autism diagnosis require multiple visits to a specialized psychiatrist, however this process can be time-consuming. In this paper, we present a learning based approach to automate autism diagnosis using simple and small action video clips of subjects. This task is particularly challenging because the amount of annotated data available is small, and the variations among samples from the two categories (ASD and control) are generally indistinguishable. This is also evident from poor performance of a binary classifier learned using the cross-entropy loss on top of a baseline
Previous work has observed how Neurodivergence is often harmfully pathologized in Human-Computer Interaction (HCI) and Human-Robot interaction (HRI) research. We conduct a review of autism robot reviews and find the dominant research direction is Autistic people's second to lowest (24 of 25) research priority: interventions and treatments purporting to 'help' neurodivergent individuals to conform to neurotypical social norms, become better behaved, improve social and emotional skills, and otherwise 'fix' us -- rarely prioritizing the internal experiences that might lead to such differences. Furthermore, a growing body of evidence indicates many of the most popular current approaches risk inflicting lasting trauma and damage on Autistic people. We draw on the principles and findings of the latest Autism research, Feminist HRI, and Robotics to imagine a role reversal, analyze the implications, then conclude with actionable guidance on Autistic-led scientific methods and research directions.
Existing molecular communication systems, both theoretical and experimental, are characterized by low information rates. In this paper, inspired by time-of-flight mass spectrometry (TOFMS), we consider the design of a molecular communication system in which the channel is a vacuum and demonstrate that this method has the potential to increase achievable information rates by many orders of magnitude. We use modelling results from TOFMS to obtain arrival time distributions for accelerated ions and use them to analyze several species of ions, including hydrogen, nitrogen, argon, and benzene. We show that the achievable information rates can be increased using a velocity (Wien) filter, which reduces uncertainty in the velocity of the ions. Using a simplified communication model, we show that data rates well above 1 Gbit/s/molecule are achievable.
Our aim is to analyze the relevance of the mentor-child paradigm with a robot for individuals with Autism Spectrum Disorders, and the adaptations required. This method could allow a more reliable evaluation of the socio-cognitive abilities of individuals with autism, which may have been underestimated due to pragmatic factors.
Molecular recognition, which is essential in processing information in biological systems, takes place in a crowded noisy biochemical environment and requires the recognition of a specific target within a background of various similar competing molecules. We consider molecular recognition as a transmission of information via a noisy channel and use this analogy to gain insights on the optimal, or fittest, molecular recognizer. We focus on the optimal structural properties of the molecules such as flexibility and conformation. We show that conformational changes upon binding, which often occur during molecular recognition, may optimize the detection performance of the recognizer. We thus suggest a generic design principle termed 'conformational proofreading' in which deformation enhances detection. We evaluate the optimal flexibility of the molecular recognizer, which is analogous to the stochasticity in a decision unit. In some scenarios, a flexible recognizer, i.e., a stochastic decision unit, performs better than a rigid, deterministic one. As a biological example, we discuss conformational changes during homologous recombination, the process of genetic exchange between two DNA s
The estimation of molecular abundances in interstellar clouds from spectroscopic observations requires radiative transfer calculations, which depend on basic molecular input data. This paper reviews recent developments in the fields of molecular data and radiative transfer. The first part is an overview of radiative transfer techniques, along with a "road map" showing which technique should be used in which situation. The second part is a review of measurements and calculations of molecular spectroscopic and collisional data, with a summary of recent collisional calculations and suggested modeling strategies if collision data are unavailable. The paper concludes with an overview of future developments and needs in the areas of radiative transfer and molecular data.