1. Almuqhim F, Saeed F. ASD-SAENet: A Sparse Autoencoder, and Deep-Neural Network Model for Detecting Autism Spectrum Disorder (ASD) Using fMRI Data. Frontiers in computational neuroscience. 2021; 15: 654315.

Autism spectrum disorder (ASD) is a heterogenous neurodevelopmental disorder which is characterized by impaired communication, and limited social interactions. The shortcomings of current clinical approaches which are based exclusively on behavioral observation of symptomology, and poor understanding of the neurological mechanisms underlying ASD necessitates the identification of new biomarkers that can aid in study of brain development, and functioning, and can lead to accurate and early detection of ASD. In this paper, we developed a deep-learning model called ASD-SAENet for classifying patients with ASD from typical control subjects using fMRI data. We designed and implemented a sparse autoencoder (SAE) which results in optimized extraction of features that can be used for classification. These features are then fed into a deep neural network (DNN) which results in superior classification of fMRI brain scans more prone to ASD. Our proposed model is trained to optimize the classifier while improving extracted features based on both reconstructed data error and the classifier error. We evaluated our proposed deep-learning model using publicly available Autism Brain Imaging Data Exchange (ABIDE) dataset collected from 17 different research centers, and include more than 1,035 subjects. Our extensive experimentation demonstrate that ASD-SAENet exhibits comparable accuracy (70.8%), and superior specificity (79.1%) for the whole dataset as compared to other methods. Further, our experiments demonstrate superior results as compared to other state-of-the-art methods on 12 out of the 17 imaging centers exhibiting superior generalizability across different data acquisition sites and protocols. The implemented code is available on GitHub portal of our lab at: https://github.com/pcdslab/ASD-SAENet.

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2. Arakawa H. Implication of the social function of excessive self-grooming behavior in BTBR T(+)ltpr3(tf)/J mice as an idiopathic model of autism. Physiology & behavior. 2021; 237: 113432.

Autism spectrum disorder (ASD) is defined by two core behavioral characteristics, namely, restricted repetitive behaviors and impaired social-communicative functioning. BTBR T(+)ltpr3(tf)/J (BTBR) mice provide a valuable animal model for ASD to elucidate the underlying mechanisms of these two behavioral characteristics of ASD. This study examined the social function of excessive grooming behavior in BTBR mice as a phenotype of restricted repetitive behaviors. Compared to the control C57BL/6 J (B6) strain, BTBR mice showed increased self-grooming when placed alone in a test apparatus, and this behavior was even more evident when confronted with a stimulus mouse (either B6 or BTBR) in a three-chamber test apparatus. While B6 mice tended to groom their face/snout region on the empty side of the chamber, BTBR mice showed excessive grooming with frequent transitions among grooming body regions on the side of the chamber containing a social stimulus. Acute systemic injection of buspirone,a serotonin 1A receptor agonist, as an anxiolytic, facilitated approach behavior toward social stimuli in the three-chamber setting in both B6 and BTBR mice. However, this treatment did not affect grooming behavior in B6 mice and significantly enhanced self-grooming in BTBR mice. These behaviors in BTBR mice suggest a potential signaling function of grooming in response to social stimuli, in which bodywide grooming of BTBR mice expressed in the proximity of social opponents may stimulate the release of olfactory (possibly dismissive) signals. Consequently, the putative neural mechanisms underlying excessive grooming may differ from those regulating social approaches that are associated with anxiolytic mechanisms.

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3. Banerjee T, Riley S, Saunders S. Spectrum Support: Co-working between children with attention deficit hyperactivity disorder/autism spectrum disorder, their families and paediatricians. Journal of paediatrics and child health. 2021; 57(12): 2017-8.

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4. Belisle J, Burke R, Clark L, Jepsen R, Welch K, Dennis L, McDonald N. Developing Remote Delivery of Language and Cognitive Training for Use With Children With Autism: A Technological Report. Behavior analysis in practice. 2021; 14(2): 434-44.

Remote delivery of language and cognitive training is becoming increasingly prevalent within special education settings, and the recent COVID-19 pandemic has challenged many providers to pivot to telehealth models. This technical article outlines a procedure for developing computerized discrete-trial training programs using commonly available software, as well as a description of how to adapt this strategy to teach chained tasks remotely. Within this article, we describe how to establish unidirectional and bidirectional remote interfaces to work directly with learners. Finally, we conducted a field test of these approaches with programs adapted from two standardized curricula: PEAK and PRISM. We conclude the article by discussing barriers and potential solutions that we observed while field-testing these procedures within special education settings in response to the wide-scale emigration to remote teaching due to the COVID-19 pandemic. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s40617-020-00544-6.

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5. Bonino AY, Hemann A, Mood D, Kay E, Pancoast ES, Sommerfeldt KK. Visual Reinforcers Designed for Children with Developmental Disabilities. Journal of early hearing detection and intervention. 2021; 6(1): 69-76.

A library of visual reinforcers has been created to facilitate visual reinforcement audiometry (VRA) testing in children with developmental disabilities. The library includes 45 reinforcer sets-photos or videos grouped by a common theme-that were created based on commonly reported interests of children with developmental disabilities. Each reinforce set contains a minimum of 20 unique photo or video files that can be downloaded in two formats: one for commercially available VRA reinforcement systems and another for a custom setup. The library is freely available for download online under a Creative Commons License (Creative Commons Attribution-NonCommercial 4.0 International License). Use of these materials has the potential to improve behavioral testing outcomes for children with developmental disabilities, including children with restricted interests. Future research is needed to determine the effectiveness of implementing these materials in clinical settings.

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6. Chang Z, Di Martino JM, Aiello R, Baker J, Carpenter K, Compton S, Davis N, Eichner B, Espinosa S, Flowers J, Franz L, Harris A, Howard J, Perochon S, Perrin EM, Krishnappa Babu PR, Spanos M, Sullivan C, Walter BK, Kollins SH, Dawson G, Sapiro G. Computational Methods to Measure Patterns of Gaze in Toddlers With Autism Spectrum Disorder. JAMA pediatrics. 2021; 175(8): 827-36.

IMPORTANCE: Atypical eye gaze is an early-emerging symptom of autism spectrum disorder (ASD) and holds promise for autism screening. Current eye-tracking methods are expensive and require special equipment and calibration. There is a need for scalable, feasible methods for measuring eye gaze. OBJECTIVE: Using computational methods based on computer vision analysis, we evaluated whether an app deployed on an iPhone or iPad that displayed strategically designed brief movies could elicit and quantify differences in eye-gaze patterns of toddlers with ASD vs typical development. DESIGN, SETTING, AND PARTICIPANTS: A prospective study in pediatric primary care clinics was conducted from December 2018 to March 2020, comparing toddlers with and without ASD. Caregivers of 1564 toddlers were invited to participate during a well-child visit. A total of 993 toddlers (63%) completed study measures. Enrollment criteria were aged 16 to 38 months, healthy, English- or Spanish-speaking caregiver, and toddler able to sit and view the app. Participants were screened with the Modified Checklist for Autism in Toddlers-Revised With Follow-up during routine care. Children were referred by their pediatrician for diagnostic evaluation based on results of the checklist or if the caregiver or pediatrician was concerned. Forty toddlers subsequently were diagnosed with ASD. EXPOSURES: A mobile app displayed on a smartphone or tablet. MAIN OUTCOMES AND MEASURES: Computer vision analysis quantified eye-gaze patterns elicited by the app, which were compared between toddlers with ASD vs typical development. RESULTS: Mean age of the sample was 21.1 months (range, 17.1-36.9 months), and 50.6% were boys, 59.8% White individuals, 16.5% Black individuals, 23.7% other race, and 16.9% Hispanic/Latino individuals. Distinctive eye-gaze patterns were detected in toddlers with ASD, characterized by reduced gaze to social stimuli and to salient social moments during the movies, and previously unknown deficits in coordination of gaze with speech sounds. The area under the receiver operating characteristic curve discriminating ASD vs non-ASD using multiple gaze features was 0.90 (95% CI, 0.82-0.97). CONCLUSIONS AND RELEVANCE: The app reliably measured both known and new gaze biomarkers that distinguished toddlers with ASD vs typical development. These novel results may have potential for developing scalable autism screening tools, exportable to natural settings, and enabling data sets amenable to machine learning.

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7. Deutsch SI, Burket JA. A De Novo Missense Variant of SCN2A: Implications and Limitations for Understanding Clinical Phenotype and Treatment Recommendations. Clinical neuropharmacology. 2021; 44(4): 138-40.

Autism spectrum disorder can be associated with a variety of genetic findings. We report a heterozygous de novo missense variant of SCN2A, the gene coding a voltage-gated sodium ion channel enriched in the axon initial segment and nodes of Ranvier of « immature » neocortical pyramidal neurons. With further understanding of the neurodevelopmental and functional effects of this missense variant on neuronal excitability and neocortical circuitry, there may be targeted pharmacotherapeutic interventions, potentially with « disease-modifying effects. ».

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8. Helt MS, Sorensen TM, Scheub RJ, Nakhle MB, Luddy AC. Patterns of Contagious Yawning and Itching Differ Amongst Adults With Autistic Traits vs. Psychopathic Traits. Frontiers in psychology. 2021; 12: 645310.

Both individuals with diagnosed with Autism Spectrum Disorder (ASD) and individuals high in psychopathic traits show reduced susceptibility to contagious yawning; that is, yawning after seeing or hearing another person yawn. Yet it is unclear whether the same underlying processes (e.g., reduced eye gaze) are responsible for the relationship between reduced contagion and these very different types of clinical traits. College Students (n = 97) watched videos of individuals yawning or scratching (a form of contagion not reliant on eye gaze for transmission) while their eye movements were tracked. They completed the Interpersonal Reactivity Index (IRI), the Autism-Spectrum Quotient (AQ), the Psychopathy Personality Inventory-Revised (PPI-R), and the Adolescent and Adult Sensory Processing Disorder Checklist. Both psychopathic traits and autistic traits showed an inverse relationship to contagious yawning, consistent with previous research. However, the relationship between autistic (but not psychopathic) traits and contagious yawning was moderated by eye gaze. Furthermore, participants high in autistic traits showed typical levels of contagious itching whereas adults high in psychopathic traits showed diminished itch contagion. Finally, only psychopathic traits were associated with lower overall levels of empathy. The findings imply that the underlying processes contributing to the disruptions in contagious yawning amongst individuals high in autistic vs. psychopathic traits are distinct. In contrast to adults high in psychopathic traits, diminished contagion may appear amongst people with high levels of autistic traits secondary to diminished attention to the faces of others, and in the absence of a background deficit in emotional empathy.

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9. Hossain MD, Kabir MA, Anwar A, Islam MZ. Detecting autism spectrum disorder using machine learning techniques: An experimental analysis on toddler, child, adolescent and adult datasets. Health information science and systems. 2021; 9(1): 17.

Autism Spectrum Disorder (ASD), which is a neuro development disorder, is often accompanied by sensory issues such an over sensitivity or under sensitivity to sounds and smells or touch. Although its main cause is genetics in nature, early detection and treatment can help to improve the conditions. In recent years, machine learning based intelligent diagnosis has been evolved to complement the traditional clinical methods which can be time consuming and expensive. The focus of this paper is to find out the most significant traits and automate the diagnosis process using available classification techniques for improved diagnosis purpose. We have analyzed ASD datasets of toddler, child, adolescent and adult. We have evaluated state-of-the-art classification and feature selection techniques to determine the best performing classifier and feature set, respectively, for these four ASD datasets. Our experimental results show that multilayer perceptron (MLP) classifier outperforms among all other benchmark classification techniques and achieves 100% accuracy with minimal number of attributes for toddler, child, adolescent and adult datasets. We also identify that ‘relief F’ feature selection technique works best for all four ASD datasets to rank the most significant attributes.

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10. Jamadagni P, Breuer M, Schmeisser K, Cardinal T, Kassa B, Parker JA, Pilon N, Samarut E, Patten SA. Chromatin remodeller CHD7 is required for GABAergic neuron development by promoting PAQR3 expression. EMBO reports. 2021; 22(6): e50958.

Mutations in the chromatin remodeller-coding gene CHD7 cause CHARGE syndrome (CS). CS features include moderate to severe neurological and behavioural problems, clinically characterized by intellectual disability, attention-deficit/hyperactivity disorder and autism spectrum disorder. To investigate the poorly characterized neurobiological role of CHD7, we here generate a zebrafish chd7(-/-) model. chd7(-/-) mutants have less GABAergic neurons and exhibit a hyperactivity behavioural phenotype. The GABAergic neuron defect is at least in part due to downregulation of the CHD7 direct target gene paqr3b, and subsequent upregulation of MAPK/ERK signalling, which is also dysregulated in CHD7 mutant human cells. Through a phenotype-based screen in chd7(-/-) zebrafish and Caenorhabditis elegans, we show that the small molecule ephedrine restores normal levels of MAPK/ERK signalling and improves both GABAergic defects and behavioural anomalies. We conclude that chd7 promotes paqr3b expression and that this is required for normal GABAergic network development. This work provides insight into the neuropathogenesis associated with CHD7 deficiency and identifies a promising compound for further preclinical studies.

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11. Khashan AS. Labor epidural anesthesia associated with autism. The Journal of pediatrics. 2021; 232: 307-10.

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12. Li D, Zhang L, Bai T, Huang W, Ji GJ, Yang T, Zhang Y, Tian Y, Qiu B, Wang K. Common variants of the autism-associated CNTNAP2 gene contribute to the modulatory effect of social function mediated by temporal cortex. Behavioural brain research. 2021; 409: 113319.

Autistic traits are highly heritable and characterized by social deficits. Common genetic variants of the autism-related CNTNAP2 gene have been linked with social impairments, but the neural substrates are poorly understood. In the present study, we investigated the genetic effect of common variants of CNTNAP2 (rs2710102 and rs7794745) on gray matter volume and its association with social performance among 442 healthy participants. Our results showed that individuals with rs2710102 GG homozygotes had smaller left superior temporal gyrus (STG)/insular volume than A-allele carriers (AA and AG), while individuals with rs7794745 TT and AT showed smaller right parahippocampal, right STG/insular, and left inferior parietal lobule (IPL) cortex volume than those with rs7794745 AA. Smaller volume of the STG/insular and parahippocampal cortex was associated with poorer social performance. An indirect effect of CNTNAP2 rs7794745 and rs2710102 genotype on the social performance was mediated by the STG/insular cortex and parahippocampal cortex volume. These findings provided insight into the genetic effect of CNTNAP2 variants on social behavior, which may be moderated by the temporal cortex.

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13. Mayer-Benarous H, Benarous X, Vonthron F, Cohen D. Music Therapy for Children With Autistic Spectrum Disorder and/or Other Neurodevelopmental Disorders: A Systematic Review. Frontiers in psychiatry. 2021; 12: 643234.

Background: Several studies have reported contradictory results regarding the benefits of music interventions in children and adolescents with neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD). Methods: We performed a systematic review according to the PRISMA guidelines. We searched the Cochrane, PubMed and Medline databases from January 1970 to September 2020 to review all empirical findings, except case reports, measuring the effect of music therapy on youths with ASD, intellectual disability (ID), communication disorder (CD), developmental coordination disorder (DCD), specific learning disorder, and attention/deficit hyperactivity disorder (ADHD). Results: Thirty-nine studies (N = 1,774 participants) were included in this review (ASD: n = 22; ID: n = 7; CD and dyslexia: n = 5; DCD: n = 0; ADHD: n = 5 studies). Two main music therapies were used: educational music therapy and improvisational music therapy. A positive effect of educational music therapy on patients with ASD was reported in most controlled studies (6/7), particularly in terms of speech production. A positive effect of improvisational music therapy was reported in most controlled studies (6/8), particularly in terms of social functioning. The subgroup of patients with both ASD and ID had a higher response rate. Data are lacking for children with other NDDs, although preliminary evidence appears encouraging for educational music therapy in children with dyslexia. Discussion: Improvisational music therapy in children with NDDs appears relevant for individuals with both ASD and ID. More research should be encouraged to explore whether oral and written language skills may improve after educational music therapy, as preliminary data are encouraging.

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14. Pavlopoulou G. Corrigendum: A Good Night’s Sleep: Learning About Sleep From Autistic Adolescents’ Personal Accounts. Frontiers in psychology. 2021; 12: 657385.

[This corrects the article DOI: 10.3389/fpsyg.2020.583868.].

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15. Riglin L, Wootton RE, Thapar AK, Livingston LA, Langley K, Collishaw S, Tagg J, Smith GD, Stergiakouli E, Tilling K, Thapar A. Variable Emergence of Autism Spectrum Disorder Symptoms From Childhood to Early Adulthood. The American journal of psychiatry. 2021; 178(8): 752-60.

OBJECTIVE: Autism spectrum disorder (ASD) is currently considered an early-onset neurodevelopmental condition. Follow-up studies of clinic-ascertained autism suggest that autistic symptoms typically decline with age, although symptom improvement is limited for some. To date there have been no population-based prospective studies investigating the natural history of autistic symptoms from childhood to adulthood. The aim of this study was to characterize the development and heterogeneity of autistic symptoms in a population-based cohort from childhood to age 25. METHODS: Data were analyzed in a prospective U.K. population-based cohort (ALSPAC). Trajectories were derived using five assessments of the parent-rated Social and Communication Disorders Checklist (SCDC) spanning ages 7-25. Additional measures were used to validate symptom trajectories. RESULTS: Three distinct SCDC symptom trajectory classes were identified: low (88.5%), declining (5.0%), and late-emerging (6.5%). Both the declining and late-emerging trajectory classes were associated with child and adult ASD measures, low IQ, communication problems, peer problems, and worse adult functioning compared with the low trajectory class. Male sex was associated with a higher likelihood of being in the declining trajectory class (odds ratio=2.84, 95% CI=2.19, 3.69). This sex difference was not observed in the late-emerging class (odds ratio=1.00, 95% CI=0.80, 1.24) compared with the low trajectory class. CONCLUSIONS: ASD symptom levels that emerged early tended to decline across development, although impairment was still present in adulthood for some. For others, autistic symptoms emerged across adolescence and adulthood. This challenges our current understanding that ASD symptoms inevitably first manifest early in development.

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16. Romney JS, Garcia M. TF-CBT Informed Teletherapy for Children with Autism and their Families. Journal of child & adolescent trauma. 2021; 14(3): 415-24.

A diagnosis of autism spectrum disorder (ASD) often puts a child in a vulnerable position. While the research of the effects of trauma on children diagnosed with ASD is limited, we know children diagnosed with ASD presenting with a comorbid diagnosis of post-traumatic stress disorder (PTSD) have an increased risk of suicidal thoughts and behaviors. TF-CBT is an empirically validated treatment for trauma; in this paper, we provide adaptions for using this treatment with children diagnosed with ASD and using this method for teletherapy. These adaptions include recognizing trauma behaviors and ASD behaviors, the use of repetition and the need for flexibility from the therapist, and addressing safety with ASD behaviors while working from a teletherapy platform.

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17. Smith J, Sulek R, Abdullahi I, Green CC, Bent CA, Dissanayake C, Hudry K. Comparison of mental health, well-being and parenting sense of competency among Australian and South-East Asian parents of autistic children accessing early intervention in Australia. Autism : the international journal of research and practice. 2021; 25(6): 1784-96.

We know that parents of autistic children experience poorer mental health and lower well-being than parents of non-autistic children. We also know that poorer mental health among parents of autistic children has been observed across different cultures. Most research focuses on Western cultures, so we know little about parental mental health and well-being of parents from different cultural backgrounds; yet, it is likely that cultural background contributes to how parents view their child’s condition and respond to the diagnosis. Here, we compared mental health, quality of life and well-being between families raising an autistic child from Australian backgrounds to families from South-East Asian backgrounds. All children in the current study were receiving the same community-based early intervention. When compared to the general population, parents had poorer mental health overall, but there were no differences between the two groups of parents. However, parents from South-East Asian backgrounds reported higher well-being and fewer difficulties associated with their child’s autism. These findings suggest that cultural background likely influences not only parent’s view of, and response to, their child’s autism, but also their own sense of well-being. As researchers and clinicians working with families of autistic children, we should more explicitly consider family’s cultural background within our work.

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18. Steinman KJ, Stone WL, Ibañez LV, Attar SM. Reducing Barriers to Autism Screening in Community Primary Care: A Pragmatic Trial Using Web-Based Screening. Academic pediatrics. 2022; 22(2): 263-70.

OBJECTIVE: To determine whether an intervention addressing both logistical and knowledge barriers to early screening for autism spectrum disorder (ASD) increases evidence-based screening during 18-month well-child visits and primary care providers’ (PCPs’) perceived self-efficacy in caring for children with ASD. METHODS: Forty-six PCPs from 10 diverse practices across four counties in Washington State participated. PCPs attended a 2-hour training workshop on early recognition and care for toddlers with ASD and use of a REDCap-based version of the Modified Checklist for Autism in Toddlers-Revised with Follow-up (webM-CHAT-R/F) that provided automated presentation and scoring of follow-up questions. Data were collected at baseline and 6 months following each county’s training window. PCPs’ screening methods and rates and perceived self-efficacy regarding ASD care were measured by self-report and webM-CHAT-R/F use was measured via REDCap records. RESULTS: At follow-up, 8 of the 10 practices were using the webM-CHAT-R/F routinely at 18-month visits. The proportion of PCPs reporting routine M-CHAT screening increased from 82% at baseline to 98% at follow-up (16% increase, 95% confidence interval [CI] 3%-28%; McNemar exact P = .02). The proportion using the M-CHAT-R/F follow-up interview questions increased from 33% to 82% (49% increase, 95% CI 30%-68%, exact McNemar test, P < .001). Significant increases in self-efficacy were found for all seven areas assessed (Ps ≤ .008). CONCLUSIONS: This brief intervention increased PCPs' self-reported valid use of the M-CHAT-R/F at 18 months and their self-efficacy regarding ASD care. Combining educational information with a web-based ASD screen incorporating the M-CHAT-R/F follow-up questions may increase universal ASD screening with improved fidelity.

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19. Tamm L, Day HA, Duncan A. Comparison of Adaptive Functioning Measures in Adolescents with Autism Spectrum Disorder Without Intellectual Disability. Journal of autism and developmental disorders. 2022; 52(3): 1247-56.

There is limited literature examining the adaptive functioning of adolescents with autism spectrum disorder (ASD). This study aimed to (a) document Vineland Adaptive Behavior Scales (VABS-3) and Adaptive Behavior Assessment System (ABAS-3) adaptive behavior profiles of adolescents with ASD; (b) examine the comparability of the two measures; and (c) assess potential discrepancies between IQ and adaptive behaviors. Participants included 14- to 18-year-olds with ASD without intellectual disability. Significant adaptive skills deficits were observed with most scores at least one standard deviation below the mean. Relative weaknesses were observed for social and daily living skills. The absolute magnitude of VABS-3 and ABAS-3 scores differed. There were significant discrepancies between IQ and adaptive functioning. These findings have implications for clinicians and researchers.

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