Pubmed du 05/04/22

Pubmed du jour

1. Adams L, Adamo N, Hollocks MJ, Valmaggia L, Brewster A, Watson J, Krisson M, Simonoff E. Examining clinicians’ concerns delivering telemental health interventions directly to autistic individuals during COVID-19. Research in autism spectrum disorders. 2022; 94: 101956.

BACKGROUND: The COVID-19 pandemic necessitated the adoption of telemental health (TMH). Pre-pandemic, clinicians had voiced many TMH concerns, but these had not been investigated with respect to autism spectrum disorder (ASD) even with it being known that there are distinct ASD-associated challenges for in-person mental health interventions. METHOD: A convenience sample of (n = 55) clinicians completed an online survey regarding their perspectives of adopting TMH interventions in ASD, with closed- and open-answered questions. Quantitative and qualitative data were analysed descriptively/inferentially and via Content Analysis, respectively. RESULTS: Multiple clinicians endorsed each TMH challenges/barrier previously identified as concerns in the non-ASD literature. However, overall levels of concern over challenges/barriers were low, and challenges were more likely to be predicted than experienced and considered to be case/presentation specific. Challenges that were considered ASD-specific included the exacerbation of those associated with in-person delivery in ASD, alongside difficulties with trust and appropriate remote social behaviour. On average, clinicians indicated a preference for 50% TMH interventions post-pandemic. Clinicians’ perceived technological competence and extent of professional experience with ASD were not significantly associated with levels of concern, nor number of experienced challenges, with TMH interventions in ASD. CONCLUSION: In support of the existing TMH literature, challenges/barriers were more likely to be predicted than experienced and were considered to be case/presentation-specific, though this may be more variable in ASD owing to the well-established marked heterogeneity in this population. Remote provision of interventions exacerbated in-person ASD-associated challenges, as predicted, but clinician-level factors appeared not to impact TMH perceptions.

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2. Barbier A, Chen JH, Huizinga JD. Autism Spectrum Disorder in Children Is Not Associated With Abnormal Autonomic Nervous System Function: Hypothesis and Theory. Frontiers in psychiatry. 2022; 13: 830234.

The quest to understand the pathophysiology of autism spectrum disorder (ASD) has led to extensive literature that purports to provide evidence for autonomic dysfunction based on heart rate and heart rate variability (HRV), in particular respiratory sinus arrhythmia (RSA), a measure of parasympathetic functioning. Many studies conclude that autism is associated with vagal withdrawal and sympathetic hyperactivation based on HRV and electrodermal analyses. We will argue that a critical analysis of the data leads to the hypothesis that autonomic nervous system dysfunction is not a dominant feature of autism. Most children with ASD have normal parasympathetic baseline values and normal autonomic responses to social stimuli. The existing HRV and electrodermal data cannot lead to the conclusion of an over-excitation of the sympathetic nervous system. A small subgroup of ASD children in experimental settings has relatively low RSA values and relatively high heart rates. The data suggest that this is likely associated with a relatively high level of anxiety during study conditions, associated with co-morbidities such as constipation, or due to the use of psychoactive medication. Many studies interpret their data to conform with a preferred hypothesis of autonomic dysfunction as a trait of autism, related to the polyvagal theory, but the HRV evidence is to the contrary. HRV analysis may identify children with ASD having autonomic dysfunction due to co-morbidities.

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3. Bird F, Harper JM, Luiselli JK, Shlesinger A, Gold J. Psychotropic Medication Monitoring in a Human Services Organization for Children with Autism Spectrum Disorder: Description and Evaluation of Interdisciplinary Team Review. Behavior analysis in practice. 2022: 1-11.

Children with autism spectrum disorder (ASD) are often prescribed psychotropic medications but pharmacotherapy is typically conducted and evaluated based on clinical judgement without reference to objective measurement of treatment effectiveness and combined efficacy of pharmacological-behavioral interventions. We describe an interdisciplinary review team (IRT) model at a human services organization for children with ASD that was designed to standardize a process of psychotropic medication monitoring through (1) coordinated involvement of medical, nursing, behavior analyst, and special education professionals, (2) parent-guardian participation, (3) data-driven decision making, and (4) high-level administrative support. Our description includes case illustrations of medication reduction-elimination trials with five students and social validity assessment of IRT clinicians, nurses, and parent-guardians. Key components of the IRT model are emphasized with associated practice and research recommendations.

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4. Cooper K, Butler C, Russell A, Mandy W. The lived experience of gender dysphoria in autistic young people: a phenomenological study with young people and their parents. European child & adolescent psychiatry. 2022: 1-12.

Gender dysphoria is distress in relation to incongruence between an individual’s gender and sex assigned at birth. Gender clinics offer support for gender dysphoria, and there is a higher prevalence of autism in young people attending such clinics than in the general population. We aimed to investigate the lived experiences of autistic young people who have experienced gender dysphoria, and their parents, using a multi-perspectival IPA design. Young autistic people aged 13-17 years (n = 15), and their parents (n = 16), completed in-depth interviews about the young person’s experience of gender dysphoria. We analysed each individual transcript to generate individual themes, and for each of the dyads, developed themes which acknowledged the similarities and differences in parent-child perspectives. The first superordinate theme was coping with distress which had two subordinate themes; understanding difficult feelings and focus on alleviating distress with external support. This theme described how young people were overwhelmed by negative feelings which they came to understand as being about gender incongruence and looked to alleviate these feelings through a gender transition. The second superordinate theme was working out who I am which had two subordinate themes: the centrality of different identities and needs and thinking about gender. This theme described how young people and their parents focused on different needs; while young people more often focused on their gender-related needs, parents focused on autism-related needs. We conclude that young people and parents may have different perspectives and priorities when it comes to meeting the needs of autistic young people who experience gender dysphoria.

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5. Crompton CJ, Hallett S, McAuliffe C, Stanfield AC, Fletcher-Watson S. « A Group of Fellow Travellers Who Understand »: Interviews With Autistic People About Post-diagnostic Peer Support in Adulthood. Frontiers in psychology. 2022; 13: 831628.

Receiving a diagnosis of autism in adulthood can be a life changing event, impacting identity, relationships, and mental health. A lack of post-diagnostic support has been highlighted by autistic adults, their allies, clinicians, and service providers. It can be a source of distress for autistic adults, reinforcing feelings of social isolation and rejection. Peer support could be a cost-effective, flexible, and sustainable model to provide community-based support for autistic adults. However, there is little research on the value of peer support, despite calls from the autistic community. This qualitative study explored autistic experiences and needs post-diagnosis, identifying specific ways that peer support may benefit them, and exploring the limitations of peer support. Twelve autistic adults who had all received an autism diagnosis in adulthood completed a semi-structured interview focussing on the diagnostic experience, post-diagnostic support needed and provided, engagement with the autistic community, and post-diagnostic peer support. Thematic analysis of interview transcripts resulted in four themes: (1) Mismatch in support needed and provided; (2) Community connection; (3) Flexible and personalised support; and (4) Sustainability. Participants indicated that peer support may be a useful mechanism to support autistic adults’ post-diagnosis and offers unique opportunities not available through other support channels. Though informal peer support exists, it could be more sustainable and effective if well-supported and funded.

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6. Cuesta-Gómez JL, De la Fuente-Anuncibay RR, Vidriales-Fernández R, Ortega-Camarero MT. The quality of life of people with ASD through physical activity and sports. Heliyon. 2022; 8(3): e09193.

Among the factors that influence the quality of life of people with Autism Spectrum Disorder (ASD), physical activity and sport are key dimensions of physical well-being. Few studies take into account the perspectives of people with ASD in order to understand the extent of physical well-being and their subjective perception of it. The development of a system of quality of life indicators related to physical activity and sport for people with ASD and their analysis is the aim of this study, providing guidelines for improvement. A study was carried out with a sample of 276 people, professionals (n = 143), family members (n = 73) and people with ASD (n = 60). The people with ASD in the sample belonged to three age categories: children aged 8-12 years, adolescents aged 12-18 years and adults over 18 years. The research team used a qualitative methodology in the collection of information. They adapted three questionnaires, with validated quality of life scales, to guide the interviews and also applied them in the design of the focus group protocols. Subsequently, the research team analysed the information collected in the focus groups with families and professionals using a DELPHI method. A system for coding the responses and qualitative analysis of the responses was also prepared for the analysis of the data by the research team. Finally, the information obtained was compared with a group of representative experts. The results concluded with the elaboration of a system of quality of life indicators related to the dimension of physical well-being, as well as guidelines and proposals that bring together the perspectives of people with ASD in relation to the practice of sport and physical activity. There is a need to increase the practice of sport among people with ASD in order to promote their health, social participation and personal satisfaction. It is concluded that it is not possible to obtain a broad picture of the quality of life of people with ASD and their families due to lack of information. However, the method and the results obtained represent a first approach at national level to increase knowledge about the quality of life of people with ASD.

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7. Doi M, Usui N, Shimada S. Prenatal Environment and Neurodevelopmental Disorders. Frontiers in endocrinology. 2022; 13: 860110.

The internal and external environment of the mother during the developmental stages of the fetus affects the offspring’s health. According to the developmental origins of health and disease (DOHaD) theory, environmental factors influence the offspring and also affect health in adulthood. Recently, studies based on this theory have gained attracted attention because of their clinical utility in identifying the risk groups for various diseases. Neurodevelopmental disorders (NDDs) such as autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD) can be caused by exposure to certain prenatal environments during pregnancy. This review describes the latest findings on the effect of prenatal environment on the onset mechanism of NDDs based on the DOHaD theory. Unravelling the molecular mechanisms underlying the pathogenesis of NDDs is important, because there are no therapeutic drugs for these disorders. Furthermore, elucidating the relationship between the DOHaD theory and NDDs will contribute to the popularization of preventive medicine.

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8. Ferguson J, Dounavi K, Craig EA. The impact of a telehealth platform on ABA-based parent training targeting social communication in children with autism spectrum disorder. Journal of developmental and physical disabilities. 2022: 1-32.

Interventions based upon applied behaviour analysis (ABA) have been shown to be best practice for children with autism spectrum disorder. However, in many parts of the world there is a shortage of appropriately trained behaviour analysts. Telehealth is a potential solution to increasing access to ABA. Our study assessed the use of telehealth to provide parent training in naturalistic teaching strategies designed to increase child communication skills. Five parent child dyads took part in the training, utilising didactic training and synchronous coaching. Parents could be trained to a high level of fidelity and viewed the training favourably. Children showed variable gains in communication and improved positive affect. The project was cost effective in comparison with traditional training models.

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9. Habbas K, Cakil O, Zámbó B, Tabet R, Riet F, Dembele D, Mandel JL, Hocquemiller M, Laufer R, Piguet F, Moine H. AAV-delivered diacylglycerol kinase DGKk achieves long-term rescue of fragile X syndrome mouse model. EMBO molecular medicine. 2022: e14649.

Fragile X syndrome (FXS) is the most frequent form of familial intellectual disability. FXS results from the lack of the RNA-binding protein FMRP and is associated with the deregulation of signaling pathways downstream of mGluRI receptors and upstream of mRNA translation. We previously found that diacylglycerol kinase kappa (DGKk), a main mRNA target of FMRP in cortical neurons and a master regulator of lipid signaling, is downregulated in the absence of FMRP in the brain of Fmr1-KO mouse model. Here we show that adeno-associated viral vector delivery of a modified and FMRP-independent form of DGKk corrects abnormal cerebral diacylglycerol/phosphatidic acid homeostasis and FXS-relevant behavioral phenotypes in the Fmr1-KO mouse. Our data suggest that DGKk is an important factor in FXS pathogenesis and provide preclinical proof of concept that its replacement could be a viable therapeutic strategy in FXS.

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10. Huang HL, Xu HM, Liu YD, Shou DW, Chen HT, Nie YQ, Li YQ, Zhou YJ. First Application of Fecal Microbiota Transplantation in Adult Asperger Syndrome With Digestive Symptoms-A Case Report. Frontiers in psychiatry. 2022; 13: 695481.

Asperger syndrome (AS) is a chronic neurodevelopmental disorder. Although all of the clinically diagnosed cases display normal intelligence and speech functions, barriers in social interaction and communication seriously affect mental health and psychological function. In addition to traditional psychological/behavioral training and symptomatic medication, in-depth studies of intestinal microbiota and mental health have indicated that probiotics (e.g., Lactobacillus rhamnosus) can effectively reduce the occurrence of AS. Fecal microbiota transplantation (FMT) is a type of biological therapy that involves the transplant of intestinal microbiota from healthy donors into the patient’s gastrointestinal tract to improve the gut microenvironment. In this case report, we describe the first case of adult AS treated with FMT. The patient suffered from diarrhea-predominant irritable bowel syndrome for 6 years with symptoms of diarrhea and abdominal pain. After three rounds of FMT, the diarrhea and abdominal pain were significantly improved. Moreover, the symptoms of AS were also significantly ameliorated. We found that FMT changed the structure of the intestinal microbiota as well as the patient’s serum metabolites, and these changes were consistent with the patient’s symptoms. The metabolites may affect signaling pathways, as revealed by Kyoto Encyclopedia of Genes and Genomes enrichment analysis. The changes in microbial metabolites following FMT may affect other regions (e.g., the nervous system) via the circulatory system, such that the bacteria-gut-blood-brain axis may be the means through which FMT mitigates AS.

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11. Jarbin H, Saldeen AS, Forslund CM. Pervasive Refusal Syndrome: Three Case Reports-Autism as a Predisposing Factor and Gentle Coercion to Shorten Duration of Disorder?. Case reports in psychiatry. 2022; 2022: 2258180.

BACKGROUND: Pervasive refusal syndrome (PRS) is a severe child psychiatric syndrome not yet included in the international classification and mostly affecting girls aged 7-15 years. Hospital admission and severe loss of function extend for many months and years but most recover. Autism has been suggested as a predisposing factor but largely lacks support for typical cases of PRS. Treatment is not evidence-based and described as requiring a lengthy inpatient stay with a very gradual and sensitive rehabilitation program. Case Presentations. Three cases of pervasive refusal syndrome (PRS) in girls aged 9-16 years are presented to report autism as a predisposing factor and to discuss gentle coercion as part of the management strategy to speed up the lengthy recovery. The cases, which met the proposed criteria and typical background characteristics, were noted with the addition of undiagnosed autism in two cases. The duration of inpatient admission was 8-14 months. Disease duration was 15-36 months. An adequate but negative lorazepam trial to rule out catatonia was carried out. Treatment was in one case successfully expedited with gentle coercion within a transparent management plan. Rehabilitation was slower in PRS with comorbid autism; additionally, accommodations to school and living support needed to be put in place. CONCLUSIONS: PRS is a useful clinical entity and best perceived as a primitive reaction to overwhelming stress rather than as catatonia. Autism might be another predisposing factor and needs to be assessed. A psychoeducational approach and a clear management plan support rehabilitation. A gentle coercion might hasten recovery.

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12. Kopanska M, Ochojska D, Banas-Zabczyk A, Sochocka M, Ochnik M, Torices S, Morgan RC, Leszek J, Podgorska-Bednarz J, Szczygielski J. Brain as the house of autistic soul: current trends in analyzing the risk factors and building up the diagnosis in mild forms of autism spectrum disorder. Journal of physiology and pharmacology : an official journal of the Polish Physiological Society. 2021; 72(6).

The number of children with Autism Spectrum Disorder (ASD) has significantly increased over the last few years. On the one hand, this surge may be associated with increased awareness of this entity and the greater availability of diagnostic tools. On the other hand, influence of factors believed to cause or facilitate ASD development (including environment pollution, stress of modern civilization, brain trauma and use of drugs) could have a negative impact on individuals in the phase of their social and psychological development. Due to the increasing problem, more and more attention is being focused on early detection of ASD, what allows to intervene at the earliest time point. In consequence, the quality of life of ASD-affected people may be significantly improved if diagnosed early. In this review, the list of possible risk factors for ASD is critically appraised and some « pearls for practice », helping in early diagnosis of even mild ASD are outlined.

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13. Lai AG, Chang WH, Skuse D. Autism and mental illness in children and young people require standardised approaches for assessment and treatment. The Lancet regional health Europe. 2022; 16: 100360.

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14. Landa RJ, Reetzke R, Holingue CB, Herman D, Hess CR. Diagnostic Stability and Phenotypic Differences Among School-Age Children Diagnosed With ASD Before Age 2. Frontiers in psychiatry. 2022; 13: 805686.

Given the importance of early detection, it is critical to understand the non-linearity in manifestation of ASD before age 24 months, when ASD symptoms are beginning to consolidate, through the age of 36 months when stability of ASD diagnosis is reportedly high into school-age when increased demands may challenge previously successful compensatory processes and permit first ASD detection. We employed a prospective, longitudinal design focused on children with an older sibling with ASD (n = 210) who received diagnostic evaluations at mean ages of 15.4 months (Time 1), 36.6 months (Time 2), and 5.7 years (Time 3) to examine: (1) diagnostic stability, (2) developmental trajectories associated with different patterns of ASD vs. non-ASD classifications, and (3) predictors of classification group over time. Clinical best estimate (CBE) diagnosis of ASD or non-ASD was made at each time point. Linear mixed-effects models were implemented to examine differences in developmental trajectories of stable and dynamic diagnostic groups. Multinomial logistic regression analyses were used to examine predictors of the likelihood of belonging to each CBE diagnostic classification group. Results revealed that sensitivity and stability of an ASD diagnosis significantly increased from Time 1 (sensitivity: 52%; stability: 63%) to Time 2 (sensitivity: 86%; stability: 68%). Different developmental trajectories of autism symptom severity and non-verbal and verbal IQ were observed across groups, with differences first observed at Time 1 and becoming more pronounced through Time 3. Presence of restricted and repetitive behaviors as well as limitations in initiation of joint attention and expressive language skills differentially predicted the likelihood of belonging to the different CBE diagnostic classification groups. Results suggest that ASD symptoms may emerge or attenuate over time, with some children meeting diagnosis at follow-up, and other children no longer meeting diagnostic criteria. From a systems perspective, diagnostic non-linearity may be viewed as a dynamic developmental process, where emergent properties arising from various biological, genetic, and experiential factors interact, culminating in phenotypic phenomena that change over time. Clinical implications include extending universal ASD and social communication screening into school-age, supporting families’ understanding of diagnostic shifts, and ensuring unbiased diagnostic decision-making when following children with ASD.

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15. Liao M, Duan H, Wang G. Application of Machine Learning Techniques to Detect the Children with Autism Spectrum Disorder. Journal of healthcare engineering. 2022; 2022: 9340027.

Early detection of autism spectrum disorder (ASD) is highly beneficial to the health sustainability of children. Existing detection methods depend on the assessment of experts, which are subjective and costly. In this study, we proposed a machine learning approach that fuses physiological data (electroencephalography, EEG) and behavioral data (eye fixation and facial expression) to detect children with ASD. Its implementation can improve detection efficiency and reduce costs. First, we used an innovative approach to extract features of eye fixation, facial expression, and EEG data. Then, a hybrid fusion approach based on a weighted naive Bayes algorithm was presented for multimodal data fusion with a classification accuracy of 87.50%. Results suggest that the machine learning classification approach in this study is effective for the early detection of ASD. Confusion matrices and graphs demonstrate that eye fixation, facial expression, and EEG have different discriminative powers for the detection of ASD and typically developing children, and EEG may be the most discriminative information. The physiological and behavioral data have important complementary characteristics. Thus, the machine learning approach proposed in this study, which combines the complementary information, can significantly improve classification accuracy.

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16. Ma CH, Chen LY, Li MF, Wu D, Wang SS, Zhao YJ, Shi JL, Rydell PJ, Chen JJ, Wang Y. Treatment of Preschool Children With Autism Spectrum Disorder: A Trial to Evaluate a Learning Style Profile Intervention Program in China. Frontiers in pediatrics. 2022; 10: 831621.

OBJECTIVE: To investigate whether the provision of learning style profile (LSP) training improves development in preschool children with autism spectrum disorder (ASD) in China and to describe the characteristics of children who benefit from the intervention. METHODS: Eighty-one children aged 36 to 72 months who were diagnosed with ASD for the first time were recruited for the intervention group. All of them received 24 weeks of LSP training, consisting of hospital- and home-based training. Twenty-one children with ASD of the same age in the control group had never received any intervention after diagnosis but underwent an assessment. Assessments were conducted at baseline and 24 weeks later. Differences in the developmental level and severity of ASD symptoms over time and between groups were analyzed by repeated standardized measures. Secondary analyses examined age effects among the 36- 48-, 48- 60-, and 60-72-month age groups. RESULTS: Within-group comparison of the intervention group revealed significant treatment effects after the intervention, according to: language, social and adaptive developmental quotients (DQs) of the China Developmental Scale; total Childhood Autism Rating Scale (CARS) score; and hyperactivity, peer problems, total difficulties, and prosocial behavior scores of the Strengths and Difficulties Questionnaire (SDQ). Similar gains were observed in gross and fine motor DQs of the China Developmental Scale and emotional symptoms and conduct problems scores of the SDQ; however, the differences between these pre- and postintervention scores did not reach statistical significance. Comparisons among the three age groups in the intervention groups demonstrated a significant age effect on adaptive DQs of the China Developmental Scale; total CARS score; hyperactivity, peer problems and total difficulties scores of the SDQ. Comparison between the intervention and control groups revealed significant treatment effects on language, social and adaptive DQs of the China Developmental Scale; total CARS score; and emotional symptoms, conduct problems, hyperactivity, peer problems, total difficulties, and prosocial behavior scores of the SDQ after the intervention. Similar gains were observed in gross and fine motor DQs of the China Developmental Scale, although differences between the two groups did not reach statistical significance. CONCLUSION: Our findings suggest that LSP training can effectively improve social behavior and reduce the severity of ASD symptoms in children with ASD. Our data also highlight the importance of early intervention.

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17. Nikopoulou VA, Holeva V, Tatsiopoulou P, Kaburlasos VG, Evangeliou AE. A Pediatric Patient With Autism Spectrum Disorder and Comorbid Compulsive Behaviors Treated With Robot-Assisted Relaxation: A Case Report. Cureus. 2022; 14(2): e22409.

The nature of autism spectrum disorders (ASDs) presents significant challenges, especially with regard to comorbidities and drug treatments. Parents and caregivers are often hesitant towards psychotropic medications, mainly due to the fear of side effects. Problems arise when comorbid symptomatology reaches extreme levels, leading to functional decline in the patients. We discuss the case of a 13-year-old girl diagnosed with autism disorder who presented with a long history of social, interpersonal, and academic challenges. The patient was hospitalized with the complaint of a persistent, non-painful, and unpleasant sensation in the perineal area that eventually resulted in repetitive and compulsive behaviors. Robot-enhanced relaxation training was introduced to support the patient since she declined to undergo any form of talk therapy. The aim of the intervention was to prevent the irritation from escalating and promote self-regulation skills. The results, based on parent reporting, indicated that the patient acquired relaxation skills, experienced some positive effects on emotional regulation, and showed a decrease in the duration of her disruptive behaviors upon completing the relaxation training. This case report provides evidence that robot-assisted relaxation training may be effective in dealing with ASD-related behavioral disturbances and comorbid anxiety.

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18. Roman-Urrestarazu A, Dumas G, Warrier V. Naming Autism in the Right Context. JAMA pediatrics. 2022.

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19. Zhang L, Amat AZ, Zhao H, Swanson A, Weitlauf A, Warren Z, Sarkar N. Design of an Intelligent Agent to Measure Collaboration and Verbal-Communication Skills of Children with Autism Spectrum Disorder in Collaborative Puzzle Games. IEEE transactions on learning technologies. 2021; 14(3): 338-52.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by core deficits in social interaction and communication. Collaborative puzzle games are interactive activities that can be played to foster the collaboration and verbal-communication skills of children with ASD. In this paper, we have designed an intelligent agent that can play collaborative puzzle games with children and verbally communicate with them as if it is another human player. Furthermore, this intelligent agent is also able to automatically measure children’s task-performance and verbal-communication behaviors throughout game play. Two preliminary studies were conducted with children with ASD to evaluate the feasibility and performance of the intelligent agent. Results of Study I demonstrated the intelligent agent’s ability to play games and communicate with children within the game-playing domain. Results of Study II indicated its potential to measure the communication and collaboration skills of human users.

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