1. Special Issue Announcement: Insights in the Field of Autism and Neurodevelopmental Disorders. ACS Pharmacol Transl Sci;2022 (Aug 12);5(8):518-519.

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2. Alobaid AS, Almogbel E. Awareness of Autism Spectrum Disorder Among Pre-School Teachers in Qassim Region, Saudi Arabia. Health Psychol Res;2022;10(3):37676.

BACKGROUND: Autism Spectrum Disorder (ASD) is a lifelong condition that affects children and early intervention to provide an appropriate education for ASD children is necessary. OBJECTIVE: This study aimed to assess the awareness of ASD among preschool teachers in Qassim region, Saudi Arabia. METHODS: A cross-sectional study was carried out from December 2021 to February 2022 among preschool teachers in the Qassim region of Saudi Arabia. A random sampling technique was applied to select teachers through the Ministry of Education website. RESULTS: A total of 164 preschool teachers took part in the questionnaire. The most common age group was 30 – 40 years (58.5%). The total mean score of AKQ was 15.0 (SD 4.97). Nearly three-quarters (74.4%) of the teachers were classified as having a poor level of awareness while 25.6% had a good awareness level. Factors associated with a good awareness level include being a teacher (p=0.034) and having direct contact with autistic children (p=0.016). It is important to note that having more years of experience was significantly associated with knowledge regarding the correct pattern to diagnose children with autism (p=0.049). CONCLUSION: The awareness of preschool teachers regarding ASD was deficient. Teachers who are in contact with autistic students demonstrated better knowledge than the rest of the preschool teachers. Preschool teachers are expected to maintain high standards in their work to meet the children’s abnormal development and to identify them from an early stage, then refer them to diagnosis services.

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3. Berruti AS, Schaaf RC, Jones EA, Ridgway E, Dumont RL, Leiby B, Sancimino C, Yi M, Molholm S. Notes from an epicenter: navigating behavioral clinical trials on autism spectrum disorder amid the COVID-19 pandemic in the Bronx. Trials;2022 (Aug 19);23(1):691.

BACKGROUND: The COVID-19 pandemic impacted nearly all facets of our daily lives, and clinical research was no exception. Here, we discuss the impact of the pandemic on our ongoing, three-arm randomized controlled trial (RCT) Sensory Integration Therapy (SIT) in Autism: Mechanisms and Effectiveness (NCT02536365), which investigates the immediate and sustained utility of SIT to strengthen functional daily-living skills and minimize the presence of maladaptive sensory behaviors in autistic children. MAIN TEXT: In this text, we detail how we navigated the unique challenges that the pandemic brought forth between the years 2020 and 2021, including the need to rapidly adjust our study protocol, recruitment strategy, and in-person assessment battery to allow for virtual recruitment and data collection. We further detail how we triaged participants and allocated limited resources to best preserve our primary outcome measures while prioritizing the safety of our participants and study team. We specifically note the importance of open and consistent communication with all participating families throughout the pandemic in ensuring all our protocol adjustments were successfully implemented. CONCLUSIONS: Though the COVID-19 pandemic resulted in an unprecedented interruption to in-person clinical research, clinical trials have always been and will continue to be at risk for unforeseen interruptions, whether from world events or participants’ personal circumstances. By presenting our steps to preserving this RCT throughout the pandemic, we offer suggestions for successfully managing unexpected interruptions to research. Ideally, by taking these into account, future RCTs may be increasingly prepared to minimize the impact of these potential interruptions to research.

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4. Brasher S, Stapel-Wax JL, Muirhead L. Racial and Ethnic Disparities in Autism Spectrum Disorder: Implications for Care. Nurs Clin North Am;2022 (Sep);57(3):489-499.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by difficulties with social interaction and communication and the presence of restrictive and repetitive behavior. Individuals with ASD, particularly those from diverse racial and ethnic backgrounds, are at higher risk of certain health conditions and mortality over the lifespan. Disparities in timing of diagnosis, access to services, and quality of care have a significant impact on the trajectory of individuals on the autism spectrum. Health care providers and law enforcement officers often interact with individuals with ASD and need adequate preparation to provide person-centered care to this vulnerable population.

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5. Crespi BJ. The hallmarks of autism. Front Psychiatry;2022;13:937163.

I suggest that the current study of autism is problematic, due to: (1) its failure to pursue a medical model of disease causation, with protocols for differential diagnoses of causes; (2) a notable incidence of unrecognized false positive diagnoses in children; (3) the conceptual equating of autism with sets of traits that have been shown to be genetically and phenotypically unrelated to one another; and (4) the expansion of use of the terms « autism » and « autism traits » to psychiatric conditions that have no substantive etiological or symptomatic overlap with autism. These problems can be alleviated by, like Kanner, considering autism as a syndrome, a constellation of traits, conceptualized as differences rather than deficits, some set of which is found in each affected individual to some degree. The original, prototypical form of autism can be delineated based on the « hallmarks » of autism: a set of core traits, originally explicated by Kanner, that defines a relatively-homogeneous group, and that connects with the larger set of autism symptoms. The hallmarks of autism provide a touchstone for research that is unambiguous, historically continuous to the present, and linked with major theories for explaining the causes and symptoms of autism. Use of the hallmarks of autism does not impact recognition and treatment of individuals with DSM diagnosed autism, or individuals with the many disorders that involve social deficits. This perspective is compatible with the research domain criteria approach to studying autism, via analyses of autism’s constituent traits and the differential diagnosis of its individual-specific causes.

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6. De Laet A, Piccardi ES, Begum-Ali J, Charman T, Johnson MH, Jones EJH, Bedford R, Gliga T. Neuronal gating of tactile input and sleep in 10-month-old infants at typical and elevated likelihood for autism spectrum disorder. Sci Rep;2022 (Aug 19);12(1):14188.

Sleep problems in Autism Spectrum Disorder (ASD) emerge early in development, yet the origin remains unclear. Here, we characterise developmental trajectories in sleep onset latency (SOL) and night awakenings in infants at elevated likelihood (EL) for ASD (who have an older sibling with ASD) and infants at typical likelihood (TL) for ASD. Further, we test whether the ability to gate tactile input, using an EEG tactile suppression index (TSI), associates with variation in SOL and night awakenings. Parent-reported night awakenings and SOL from 124 infants (97 at EL for ASD) at 5, 10 and 14 months were analyzed using generalized estimating equations. Compared to TL infants, infants at EL had significantly more awakenings and longer SOL at 10 and 14 months. The TSI predicted SOL concurrently at 10 months, independent of ASD likelihood status, but not longitudinally at 14 months. The TSI did not predict night awakenings concurrently or longitudinally. These results imply that infants at EL for ASD wake up more frequently during the night and take longer to fall asleep from 10 months of age. At 10 months, sensory gating predicts SOL, but not night awakenings, suggesting sensory gating differentially affects neural mechanisms of sleep initiation and maintenance.

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7. Eisfeldt J, Schuy J, Stattin EL, Kvarnung M, Falk A, Feuk L, Lindstrand A. Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis. Int J Mol Sci;2022 (Aug 20);23(16)

Balanced structural variants, such as reciprocal translocations, are sometimes hard to detect with sequencing, especially when the breakpoints are located in repetitive or insufficiently mapped regions of the genome. In such cases, long-range information is required to resolve the rearrangement, identify disrupted genes and, in symptomatic carriers, pinpoint the disease-causing mechanisms. Here, we report an individual with autism, epilepsy and osteoporosis and a de novo balanced reciprocal translocation: t(17;19) (p13;p11). The genomic DNA was analyzed by short-, linked- and long-read genome sequencing, as well as optical mapping. Transcriptional consequences were assessed by transcriptome sequencing of patient-specific neuroepithelial stem cells derived from induced pluripotent stem cells (iPSC). The translocation breakpoints were only detected by long-read sequencing, the first on 17p13, located between exon 1 and exon 2 of MINK1 (Misshapen-like kinase 1), and the second in the chromosome 19 centromere. Functional validation in induced neural cells showed that MINK1 expression was reduced by >50% in the patient’s cells compared to healthy control cells. Furthermore, pathway analysis revealed an enrichment of changed neural pathways in the patient’s cells. Altogether, our multi-omics experiments highlight MINK1 as a candidate monogenic disease gene and show the advantages of long-read genome sequencing in capturing centromeric translocations.

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8. Granato G, Borghi AM, Mattera A, Baldassarre G. A computational model of inner speech supporting flexible goal-directed behaviour in Autism. Sci Rep;2022 (Aug 20);12(1):14198.

Experimental and computational studies propose that inner speech boosts categorisation skills and executive functions, making human behaviour more focused and flexible. In addition, many clinical studies highlight a relationship between poor inner-speech and an executive impairment in autism spectrum condition (ASC), but contrasting findings are reported. Here we directly investigate the latter issue through a previously implemented and validated computational model of the Wisconsin Cards Sorting Tests. In particular, the model was applied to explore potential individual differences in cognitive flexibility and inner speech contribution in autistic and neurotypical participants. Our model predicts that the use of inner-speech could increase along the life-span of neurotypical participants but would be reduced in autistic ones. Although we found more attentional failures (i.e., wrong behavioural rule switches) in autistic children/teenagers and more perseverative behaviours in autistic young/older adults, only autistic children and older adults exhibited a lower performance (i.e., fewer consecutive correct rule switches) than matched control groups. Overall, our results corroborate the idea that the reduced use of inner speech could represent a disadvantage for autistic children and autistic older adults. Moreover, the results suggest that cognitive-behavioural therapies should focus on developing inner speech skills in autistic children as this could provide cognitive support throughout their whole life span.

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9. Hidalgo N, Sjöwall D, Agius H, Byström C, Brar A, Borg J, Hirvikoski T. Psychoeducational group intervention for intellectually able adults with autism and their close relations (Prisma) – an open feasibility study. BMC Psychiatry;2022 (Aug 19);22(1):556.

BACKGROUND: Autism spectrum disorder (ASD) in adulthood is associated with severe impairments in functioning and poor health, while ASD is also affecting close relations. Accessible first-line interventions addressing the complex clinical needs and care coordination are lacking. METHODS: This study investigated the feasibility and preliminary effects of a new psychoeducational intervention (Prisma) developed for intellectually able adults with ASD and their close relations in an outpatient setting. The manualized Prisma intervention consist of four weekly group sessions guided by trained group leaders and providing information about autism, support, and services. Feasibility was examined through treatment completion rate and group-level comparisons between intervention completers and non-completers (Student’s t-test, Fisher’s exact test, and Pearson’s chi-squared test). Perceived treatment credibility was investigated by within-group comparisons of participant’s self-ratings from pre-intervention to post-intervention, as well as by group leaders’ ratings using an adjusted questionnaire. Treatment satisfaction was examined quantitatively regarding the session evaluations (Student’s t-tests), as well as by a qualitative thematic analysis of participants’ feedback. Preliminary efficacy was studied using paired t-tests (pre- and post-intervention). RESULTS: Completion rate was 77% (n = 71 of the 92 adults with ASD) and 73% (n = 69 of the 94 close relations), respectively. Participants considered Prisma to be an acceptable intervention indicated by increases in treatment credibility and expectations from pre- to post-intervention. The group leaders reported treatment credibility in the same range as the participants. Both autistic adults and their close relations reported good treatment satisfaction for each session, while the qualitative thematic analysis indicated that Prisma could be improved by enhancing active participation. This participant feedback will be used to further improve the intervention for an upcoming RCT. Preliminary analyses of effects showed promising results with an increase in knowledge of ASD and some indications for improvements in relationship quality, mental health, quality of life, acceptance of diagnosis and burden of care. CONCLUSIONS: Overall, results indicate that the Prisma is a feasible and acceptable first-line intervention in outpatient services. Randomized controlled trials are needed to further corroborate the evidence base of this novel intervention. TRIAL REGISTRATION: Clinicaltrials.org NCT0446097, retrospectively registered July 8th 2020.

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10. Lal SG, Syurina E, González LP, Bally ELS, Gopikumar V, Bunders-Aelen JGF. Vulnerabilities Prompting Use of Technology and Screen by Mothers of Autistic Children in India: Lived Experiences and Comparison to Scientific Literature. Cult Med Psychiatry;2022 (Aug 20):1-21.

Technology and screen media has its place in every home, yet the influences of the same are less known. This research aims to explore the vulnerabilities that prompt the mothers to use screen media for their children, prior to a diagnosis of autism for their child. It also aims to explore literature the influence of screen media on speech and language development in children. This study combined semi-structured interviews with 16 mothers of autistic children in Southern India and a scoping literature review that resulted in 24 articles. The literature refers to a positive influence when co-viewing with the child, and it predominantly highlights improvements in speech and not in language. The interviews revealed that screens were used as a means of support, a language and learning development tool, or as a calming technique. Thus, the study shows that the mothers resorted to screen use for their children more out of helplessness, and not as an informed choice. Mothers of autistic children clearly express their vulnerabilities and indicate feelings of being lost without advice, with regard to use of screen-time. This suggests a need for more research into how they can be supported.

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11. Mansour Y, Burchell A, Kulesza R. Abnormal vestibular brainstem structure and function in an animal model of autism spectrum disorder. Brain Res;2022 (Oct 15);1793:148056.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that includes several key neuropathological changes and behavioral impairments. In utero exposure to the anti-epileptic valproic acid (VPA) increases risk of an ASD diagnosis in human subjects and timed in utero exposure to VPA is a clinically relevant animal model of ASD. Many human subjects with ASD have cerebellar hypoplasia, fewer Purkinje cells, difficulties with balance, ophthalmic dysfunction and abnormal responses to vestibular stimulation and such vestibular difficulties are likely under reported in ASD. We have recently shown that animals exposed to VPA in utero have fewer neurons in their auditory brainstem, reduced axonal projections to the auditory midbrain and thalamus, reduced expression of the calcium binding protein calbindin (CB) in the brainstem and cerebellum, smaller and occasionally ectopic cerebellar Purkinje cells and ataxia on several motor tasks. Based on these findings, we hypothesized that in utero VPA exposure similarly impacts structure and function of the vestibular brainstem. We investigated this hypothesis using quantitative morphometric analyses, immunohistochemistry for CB, a battery of vestibular challenges, recording of vestibular-evoked myogenic potentials and spontaneous eye movements. Our results indicate that VPA exposure results in fewer neurons in the vestibular nuclei, fewer CB-positive puncta, difficulty on certain motor tasks, longer latency VEMPs and significantly more horizontal eye movements. These findings indicate that the vestibular nuclei are impacted by in utero VPA exposure and provide a basis for further study of vestibular circuits in human cases of ASD.

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12. Qin C, Zhu X, Ye L, Peng L, Li L, Wang J, Ma J, Liu T. Autism detection based on multiple time scale model. J Neural Eng;2022 (Sep 6);19(5)

Objective.Current autism clinical detection relies on doctor observation and filling of clinical scales, which is subjective and prone to misdetection. Existing autism research of functional magnetic resonance imaging (fMRI) over-compresses the time-scale information and has poor generalization ability. This study extracts multiple time scale brain features of fMRI, providing objective detection.Approach. We first use least absolute shrinkage and selection operator to build a sparse network and extract features with a time scale of 1. Then, we use hidden markov model to extract features that describe the dynamic changes of the brain, with a time scale of 2. Additionally, to analyze the features of the potential network activity of autism from a higher time scale, we use long short-term memory to construct an auto-encoder to re-encode the original data and extract the features at a higher time scale, with a time scale ofT, andTis the time length of fMRI. We use recursive feature elimination for feature selection for three different time scale features, merge them into multiple time scale features, and finally use one-dimensional convolution neural network for classification.Main results. Compared with well-established models, our method has achieved better results. The accuracy of our method is 76.0%, and the area under the roc curve is 0.83, tested on completely independent data, so our method has better generalization ability.Significance. This research analyzes fMRI sequences from multiple time scale to detect autism, and it also provides a new framework and research ideas for subsequent fMRI analysis.

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13. Rosen V, Blank E, Lampert E, Dominick K, Will M, Erickson C, Pedapati E, Lamy M, Shaffer R. Brief Report: Telehealth Satisfaction Among Caregivers of Pediatric and Adult Psychology and Psychiatry Patients with Intellectual and Developmental Disability in the Wake of Covid-19. J Autism Dev Disord;2022 (Aug 20):1-13.

Telehealth has been shown to be both acceptable and effective in many areas of healthcare, yet it was not widely adopted prior to the SARS-CoV-2 (COVID-19) pandemic. Additionally, previous evaluations of telehealth for autism spectrum condition (ASC) and intellectual and developmental disability (IDD) populations are limited in both number and scope. Here, we investigated satisfaction amongst Psychology and Psychiatry patient caregivers at Cincinnati Children’s Hospital Medical Center (CCHMC) after the onset of the COVID-19 pandemic. Results (640 responses) showed high rates of satisfaction across departments, appointment types, and diagnoses, with 92% indicating overall satisfaction with their appointment. There were, however, notable decreases in satisfaction among Group Therapy respondents, and those whose diagnosis was classified as Other.

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14. Sabapathy T, Goss M, Borelli JL, Steinberg-Epstein R. A Pediatrician’s Guide to Working with Children on the Autism Spectrum in Coronavirus Disease 2019 and Beyond: Retrospect and Prospect. Adv Pediatr;2022 (Aug);69(1):41-58.

The COVID-19 pandemic is an unprecedented event with devastating effects on children and families, highlighting and broadening disparities in the care of children with developmental disabilities, while simultaneously catalyzing innovation. Children are vulnerable to the impacts of COVID-19, resulting in increased stress, anxiety, isolation, and health challenges, further amplified in autistic children and children with other neurodevelopmental disabilities. These children are uniquely vulnerable due to communication impairments, comorbid medical disorders, reduced adaptability, and reliance on therapeutic interventions. Abrupt reduction in services and access to care during the pandemic compromised physical and mental health and led to missed intervention opportunities at critical times. It is important to examine the effects that the pandemic triggered, address deficiencies, and recognize new opportunities to improve systems of care to prepare for unforeseen futures.

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15. Sato H, Fujita M, Tsuchiya A, Hatta T, Mori K, Nakazawa E, Takimoto Y, Akabayashi A. Disclosing a diagnosis of autism spectrum disorder without intellectual disability to pediatric patients in Japan in early diagnostic stages and associated factors: a cross-sectional study. Biopsychosoc Med;2022 (Aug 20);16(1):18.

With a recent increase in the prevalence of autism spectrum disorder (ASD), an important issue has emerged in clinical practice regarding when and how patients themselves should be given explanations following a diagnosis of ASD. The clinical guidelines of the UK National Institute for Health and Care Excellence state that children diagnosed with ASD should receive an explanation about what ASD is and how it affects their development and functioning-« if appropriate ». However, the guidelines do not provide any specifics regarding what constitutes « appropriate » situations METHODS: We conducted an anonymous self-administered postal questionnaire survey targeting all members of the Japanese Society for Child and Adolescent Psychiatry (n=1,995). The analysis included only physicians who had newly diagnosed pediatric patients with ASD in the past year. We imposed a limit of one year because diagnoses further back than that are difficult to recall; in other words, this would enhance the recall bias RESULTS: The recovery rate was 30.8%, and the rate of diagnosis disclosure to patients themselves without intellectual disability was 15.3%. We asked 361 physicians who responded that « deciding on a case-by-case basis » was the ideal way to disclose an ASD diagnosis about 20 items prioritized by physicians at the time of diagnosis disclosure and extracted three factors through exploratory factor analysis. Multiple logistic regression analysis was performed with physician attributes, awareness of ASD as a disorder or personality, and the three extracted factors as explanatory variables; diagnosis disclosure was the dependent variable. The patient age group and only one of the three factors (i.e., « factor related to readiness to accept diagnosis ») showed a significant association with disclosure of the diagnosis to the individual. Items included in the « factor related to readiness to accept diagnosis » were as follows: the degree of parental understanding, relationship of the patient with their parents/physician, agreement in opinion between parents, parental consent, « sufficient » patient understanding, symptom stabilization, and a guarantee of sufficient time required to explain the diagnosis to the patient CONCLUSION: In clinical settings, disclosing an ASD diagnosis with the consideration of patient/parent readiness toward accepting the diagnosis could help to guide physicians in determining an ideal timing for disclosure. Future studies are needed to establish detailed and concrete guidelines regarding disclosure of an ASD diagnosis to patients.

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16. Shalev I, Warrier V, Greenberg DM, Smith P, Allison C, Baron-Cohen S, Eran A, Uzefovsky F. Reexamining empathy in autism: Empathic disequilibrium as a novel predictor of autism diagnosis and autistic traits. Autism Res;2022 (Aug 20)

A large body of research showed that autistic people have intact emotional (affective) empathy alongside reduced cognitive empathy. However, there are mixed findings and these call for a more subtle understanding of empathy in autism. Empathic disequilibrium refers to the imbalance between emotional and cognitive empathy and is associated with a higher number of autistic traits in the typical population. Here we examined whether empathic disequilibrium predicts both the number of autistic traits and autism diagnosis. In a large sample of autistic (N = 1905) and typical individuals (N = 3009), we examined empathic disequilibrium and empathy as predictors of autistic traits and autism diagnosis, using a polynomial regression with response surface analysis. Empathy and autistic traits were measured using validated self-report questionnaires. Both empathic disequilibrium and empathy predicted linearly and non-linearly autism diagnosis and autistic traits. Specifically, a tendency towards higher emotional than cognitive empathy (empathic disequilibrium towards emotional empathy) predicted both autism diagnosis and the social domain of autistic traits, while higher cognitive than emotional empathy was associated with the non-social domain of autism. Empathic disequilibrium was also more prominent in autistic females. This study provides evidence that beyond empathy as was measured thus far, empathic disequilibrium offers a novel analytical approach for examining the role of empathy. Empathic disequilibrium allows for a more nuanced understanding of the links between empathy and autism.

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17. Turnage D, Conner N. Quality of life of parents of children with Autism Spectrum Disorder: An integrative literature review. J Spec Pediatr Nurs;2022 (Aug 20):e12391.

PURPOSE: This paper presents an integrated literature review of the quality of life (QOL) in parents of individuals with Autism Spectrum Disorder (ASD). The rate of ASD is increasing. Parents of children with ASD have higher levels of stress and burden, which may lead to lower QOL. DESIGN AND METHODS: A comprehensive, electronic search was performed to retrieve 15 relevant articles, including 5565 participants. An integrative review was performed to appraise and synthesize findings. RESULTS: QOL was found to be lower in parents of children with ASD in physical, psychological, and social health and in spirituality, as compared with adults who were not parents of children with ASD. The strongest risk factor for parental QOL was the severity of the diagnosis of ASD. Protective factors for parental QOL were parent education level and levels of severity of ASD in the child. PRACTICE IMPLICATIONS: Nurses can support families impacted by ASD, particularly severe ASD, through tailored resources to support early diagnosis and intervention, through the support of policies affecting low-income families, and through increased awareness of severe ASD and its’ impact on the child and the family.

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18. Vidal VG, Wachholtz DP, Mattie LJ, DeThorne LS. It Takes a Community: How Environmental Systems Construct (In)Competence in Autistic Peer Interactions. Lang Speech Hear Serv Sch;2022 (Aug 19):1-19.

PURPOSE: This study aims to illustrate how environmental systems shape the peer interactions of an autistic student within the classroom. METHOD: Drawing on the bioecological model of human development, this situated discourse analysis used thematic coding and microanalysis to examine data from semistructured interviews and 10 sessions of direct classroom observations of a 9-year-old autistic student and his classroom communication partners. RESULTS: Convergent data across participants, time, and data sources revealed the following systemic influences on peer interaction: predominant medicalized view of autism (macrosystem), educational practices (exosystem), misaligned roles across adults and peers in the classroom (mesosystem), and multimodal opportunities for direct interaction that were supported by objects and physical contact and inhibited by rapid pacing (microsystem). CONCLUSIONS: Findings illustrate the environmental complexities associated with the development of peer interactions for autistic students. We offer explicit clinical implications for how environmental factors can be addressed in the school-based eligibility determination process and in the Individualized Education Program.

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