Identifying predictive features of autism spectrum disorders in a clinical sample of adolescents and adults using machine learning

Diagnosing autism spectrum disorders (ASD) is a complicated, time-consuming process which is particularly challenging in older individuals. One of the most widely used behavioral diagnostic tools is the Autism Diagnostic Observation Schedule (ADOS). Previous work using machine learning techniques suggested that ASD detection in children can be achieved with substantially fewer items than the original ADOS. Here, we expand on this work with a specific focus on adolescents and adults as assessed with the ADOS Module 4. We used a machine learning algorithm (support vector machine) to examine whether ASD detection can be improved by identifying a subset of behavioral features from the ADOS Module 4 in a routine clinical sample of N = 673 high-functioning adolescents and adults with ASD (n = 385) and individuals with suspected ASD but other best-estimate or no psychiatric diagnoses (n = 288). We identified reduced subsets of 5 behavioral features for the whole sample as well as age subgroups (adolescents vs. adults) that showed good specificity and sensitivity and reached performance close to that of the existing ADOS algorithm and the full ADOS, with no significant differences in overall performance. These results may help to improve the complicated diagnostic process of ASD by encouraging future efforts to develop novel diagnostic instruments for ASD detection based on the identified constructs as well as aiding clinicians in the difficult question of differential diagnosis

Affective Medicine: a review of Affective Computing efforts in Medical Informatics

Background: Affective computing (AC) is concerned with emotional interactions performed with and through computers. It is defined as “computing that relates to, arises from, or deliberately influences emotions”. AC enables investigation and understanding of the relation between human emotions and health as well as application of assistive and useful technologies in the medical domain. Objectives: 1) To review the general state of the art in AC and its applications in medicine, and 2) to establish synergies between the research communities of AC and medical informatics. Methods: Aspects related to the human affective state as a determinant of the human health are discussed, coupled with an illustration of significant AC research and related literature output. Moreover, affective communication channels are described and their range of application fields is explored through illustrative examples. Results: The presented conferences, European research projects and research publications illustrate the recent increase of interest in the AC area by the medical community. Tele-home healthcare, AmI, ubiquitous monitoring, e-learning and virtual communities with emotionally expressive characters for elderly or impaired people are few areas where the potential of AC has been realized and applications have emerged. Conclusions: A number of gaps can potentially be overcome through the synergy of AC and medical informatics. The application of AC technologies parallels the advancement of the existing state of the art and the introduction of new methods. The amount of work and projects reviewed in this paper witness an ambitious and optimistic synergetic future of the affective medicine field

The Use of Coding Methods to Estimate the Social Behavior Directed toward Peers and Adults of Preschoolers with ASD in TEACCH, LEAP, and Eclectic “BAU” Classrooms

Momentary time sampling, partial-interval recording, and event coding are observational coding methods commonly used to examine the social and challenging behaviors of children at risk for or with developmental delays or disabilities. Yet there is limited research comparing the accuracy of and relationship between these three coding methods. By coding the low-frequency social behaviors of 100 preschool-aged children with autism spectrum disorder, the current study examines the associations among the three methodologies. Results indicated a strong relationship among all three coding methodologies. The findings provide information to researchers and practitioners considering the benefits and drawbacks of each coding methodology

Machine Learning and Virtual Reality on Body Movements¿ Behaviors to Classify Children with Autism Spectrum Disorder

[EN] Autism spectrum disorder (ASD) is mostly diagnosed according to behavioral symptoms in sensory, social, and motor domains. Improper motor functioning, during diagnosis, involves the qualitative evaluation of stereotyped and repetitive behaviors, while quantitative methods that classify body movements' frequencies of children with ASD are less addressed. Recent advances in neuroscience, technology, and data analysis techniques are improving the quantitative and ecological validity methods to measure specific functioning in ASD children. On one side, cutting-edge technologies, such as cameras, sensors, and virtual reality can accurately detect and classify behavioral biomarkers, as body movements in real-life simulations. On the other, machine-learning techniques are showing the potential for identifying and classifying patients' subgroups. Starting from these premises, three real-simulated imitation tasks have been implemented in a virtual reality system whose aim is to investigate if machine-learning methods on movement features and frequency could be useful in discriminating ASD children from children with typical neurodevelopment. In this experiment, 24 children with ASD and 25 children with typical neurodevelopment participated in a multimodal virtual reality experience, and changes in their body movements were tracked by a depth sensor camera during the presentation of visual, auditive, and olfactive stimuli. The main results showed that ASD children presented larger body movements than TD children, and that head, trunk, and feet represent the maximum classification with an accuracy of 82.98%. Regarding stimuli, visual condition showed the highest accuracy (89.36%), followed by the visual-auditive stimuli (74.47%), and visual-auditive-olfactory stimuli (70.21%). Finally, the head showed the most consistent performance along with the stimuli, from 80.85% in visual to 89.36% in visual-auditive-olfactory condition. The findings showed the feasibility of applying machine learning and virtual reality to identify body movements' biomarkers that could contribute to improving ASD diagnosis.This work was supported by the Spanish Ministry of Economy, Industry, and Competitiveness funded project "Immersive virtual environment for the evaluation and training of children with autism spectrum disorder: T Room" (IDI-20170912) and by the Generalitat Valenciana funded project REBRAND (PROMETEO/2019/105). Furthermore, this work was co-founded by the European Union through the Operational Program of the European Regional development Fund (ERDF) of the Valencian Community 2014-2020 (IDIFEDER/2018/029).Alcañiz Raya, ML.; Marín-Morales, J.; Minissi, ME.; Teruel Garcia, G.; Abad, L.; Chicchi-Giglioli, IA. (2020). 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Genetic Studies of Complex Human Diseases: Characterizing SNP-Disease Associations Using Bayesian Networks

Detecting epistatic interactions plays a significant role in improving pathogenesis, prevention, diagnosis, and treatment of complex human diseases. Applying machine learning or statistical methods to epistatic interaction detection will encounter some common problems, e.g., very limited number of samples, an extremely high search space, a large number of false positives, and ways to measure the association between disease markers and the phenotype. RESULTS: To address the problems of computational methods in epistatic interaction detection, we propose a score-based Bayesian network structure learning method, EpiBN, to detect epistatic interactions. We apply the proposed method to both simulated datasets and three real disease datasets. Experimental results on simulation data show that our method outperforms some other commonly-used methods in terms of power and sample-efficiency, and is especially suitable for detecting epistatic interactions with weak or no marginal effects. Furthermore, our method is scalable to real disease data. CONCLUSIONS: We propose a Bayesian network-based method, EpiBN, to detect epistatic interactions. In EpiBN, we develop a new scoring function, which can reflect higher-order epistatic interactions by estimating the model complexity from data, and apply a fast Branch-and-Bound algorithm to learn the structure of a two-layer Bayesian network containing only one target node. To make our method scalable to real data, we propose the use of a Markov chain Monte Carlo (MCMC) method to perform the screening process. Applications of the proposed method to some real GWAS (genome-wide association studies) datasets may provide helpful insights into understanding the genetic basis of Age-related Macular Degeneration, late-onset Alzheimer's disease, and autism

Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage.

One fundamental but understudied mechanism of gene regulation in disease is allele-specific expression (ASE), the preferential expression of one allele. We leveraged RNA-sequencing data from human brain to assess ASE in autism spectrum disorder (ASD). When ASE is observed in ASD, the allele with lower population frequency (minor allele) is preferentially more highly expressed than the major allele, opposite to the canonical pattern. Importantly, genes showing ASE in ASD are enriched in those downregulated in ASD postmortem brains and in genes harboring de novo mutations in ASD. Two regions, 14q32 and 15q11, containing all known orphan C/D box small nucleolar RNAs (snoRNAs), are particularly enriched in shifts to higher minor allele expression. We demonstrate that this allele shifting enhances snoRNA-targeted splicing changes in ASD-related target genes in idiopathic ASD and 15q11-q13 duplication syndrome. Together, these results implicate allelic imbalance and dysregulation of orphan C/D box snoRNAs in ASD pathogenesis

Applications of Affective Computing in Human-Robot Interaction: state-of-art and challenges for manufacturing

The introduction of collaborative robots aims to make production more flexible, promoting a greater interaction between humans and robots also from physical point of view. However, working closely with a robot may lead to the creation of stressful situations for the operator, which can negatively affect task performance. In Human-Robot Interaction (HRI), robots are expected to be socially intelligent, i.e., capable of understanding and reacting accordingly to human social and affective clues. This ability can be exploited implementing affective computing, which concerns the development of systems able to recognize, interpret, process, and simulate human affects. Social intelligence is essential for robots to establish a natural interaction with people in several contexts, including the manufacturing sector with the emergence of Industry 5.0. In order to take full advantage of the human-robot collaboration, the robotic system should be able to perceive the psycho-emotional and mental state of the operator through different sensing modalities (e.g., facial expressions, body language, voice, or physiological signals) and to adapt its behaviour accordingly. The development of socially intelligent collaborative robots in the manufacturing sector can lead to a symbiotic human-robot collaboration, arising several research challenges that still need to be addressed. The goals of this paper are the following: (i) providing an overview of affective computing implementation in HRI; (ii) analyzing the state-of-art on this topic in different application contexts (e.g., healthcare, service applications, and manufacturing); (iii) highlighting research challenges for the manufacturing sector