1. Albizua I, Charen K, Shubeck L, Talboy A, Berry-Kravis E, Kaufmann WE, Stallworth JL, Drazba KT, Erickson CA, Sweeney JA, Tartaglia N, Warren SF, Hagerman R, Sherman SL, Warren ST, Jin P, Allen EG. Descriptive analysis of seizures and comorbidities associated with fragile X syndrome. Mol Genet Genomic Med;2022 (Jul 18):e2001.

BACKGROUND: Fragile X syndrome is characterized by a myriad of physical features, behavioral features, and medical problems. Commonly found behavioral features are hyperactivity, anxiety, socialization difficulties, and ASD. There is also a higher incidence than in the general population of strabismus, otitis media, and mitral valve prolapse. In addition, one of the most common medical problems associated with FXS is an increased risk of seizures. A subset of individuals carrying the full mutation of the FMR1 gene and diagnosed with fragile X syndrome (FXS) are reported to experience seizures, mostly during the first 10 years of their life span. METHODS: As part of a larger project to identify genetic variants that modify the risk of seizures, we collected clinical information from 49 carriers with FXS who experienced seizures and 46 without seizures. We compared seizure type and comorbid conditions based on the source of data as well as family history of seizures. RESULTS: We found that the concordance of seizure types observed by parents and medical specialists varied by type of seizure. The most common comorbid condition among those with seizures was autism spectrum disorder (47% per medical records vs. 33% per parent report compared with 19% among those without seizures per parent report); the frequency of other comorbid conditions did not differ among groups. We found a slightly higher frequency of family members who experienced seizures among the seizure group compared with the nonseizure group. CONCLUSION: This study confirms previously reported features of seizures in FXS, supports additional genetic factors, and highlights the importance of information sources, altogether contributing to a better understanding of seizures in FXS.

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2. Anstey NJ, Kapgal V, Tiwari S, Watson TC, Toft AKH, Dando OR, Inkpen FH, Baxter PS, Kozić Z, Jackson AD, He X, Nawaz MS, Kayenaat A, Bhattacharya A, Wyllie DJA, Chattarji S, Wood ER, Hardt O, Kind PC. Imbalance of flight-freeze responses and their cellular correlates in the Nlgn3(-/y) rat model of autism. Mol Autism;2022 (Jul 18);13(1):34.

BACKGROUND: Mutations in the postsynaptic transmembrane protein neuroligin-3 are highly correlative with autism spectrum disorders (ASDs) and intellectual disabilities (IDs). Fear learning is well studied in models of these disorders, however differences in fear response behaviours are often overlooked. We aim to examine fear behaviour and its cellular underpinnings in a rat model of ASD/ID lacking Nlgn3. METHODS: This study uses a range of behavioural tests to understand differences in fear response behaviour in Nlgn3(-/y) rats. Following this, we examined the physiological underpinnings of this in neurons of the periaqueductal grey (PAG), a midbrain area involved in flight-or-freeze responses. We used whole-cell patch-clamp recordings from ex vivo PAG slices, in addition to in vivo local-field potential recordings and electrical stimulation of the PAG in wildtype and Nlgn3(-/y) rats. We analysed behavioural data with two- and three-way ANOVAS and electrophysiological data with generalised linear mixed modelling (GLMM). RESULTS: We observed that, unlike the wildtype, Nlgn3(-/y) rats are more likely to response with flight rather than freezing in threatening situations. Electrophysiological findings were in agreement with these behavioural outcomes. We found in ex vivo slices from Nlgn3(-/y) rats that neurons in dorsal PAG (dPAG) showed intrinsic hyperexcitability compared to wildtype. Similarly, stimulating dPAG in vivo revealed that lower magnitudes sufficed to evoke flight behaviour in Nlgn3(-/y) than wildtype rats, indicating the functional impact of the increased cellular excitability. LIMITATIONS: Our findings do not examine what specific cell type in the PAG is likely responsible for these phenotypes. Furthermore, we have focussed on phenotypes in young adult animals, whilst the human condition associated with NLGN3 mutations appears during the first few years of life. CONCLUSIONS: We describe altered fear responses in Nlgn3(-/y) rats and provide evidence that this is the result of a circuit bias that predisposes flight over freeze responses. Additionally, we demonstrate the first link between PAG dysfunction and ASD/ID. This study provides new insight into potential pathophysiologies leading to anxiety disorders and changes to fear responses in individuals with ASD.

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3. Feng Y, Chen F, Ma J, Wang L, Peng G. Production of Mandarin consonant aspiration and monophthongs in children with Autism Spectrum Disorder. Clin Linguist Phon;2022 (Jul 18):1-20.

Impaired speech sound production adds difficulties to social communication in children with Autism Spectrum Disorder (ASD), while a limited attempt has been made to figure out the speech sound production among Mandarin-speaking children with ASD. The current study conducted both auditory-perceptual scoring and quantitative acoustic analysis of speech sound imitated by 27 Mandarin-speaking children with ASD (3.33-7.00 years) and 30 chronological-age-matched typically developing (TD) children. Auditory-perceptual scoring showed significantly lower scores for aspirated/unaspirated consonants and monophthongs in children with ASD. Moreover, the correlation between the developmental age of language and production accuracy in children with ASD emphasised the importance of language assessment. The quantitative acoustic analysis further indicated that the ASD group produced a much shorter voice onset time for aspirated consonants and showed a reduced vowel space than the TD group. Early interventions focusing on these production patterns should be introduced to improve the speech sound production in Mandarin-speaking children with ASD.

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4. Knight EJ, Krakowski AI, Freedman EG, Butler JS, Molholm S, Foxe JJ. Attentional influences on neural processing of biological motion in typically developing children and those on the autism spectrum. Mol Autism;2022 (Jul 18);13(1):33.

BACKGROUND: Biological motion imparts rich information related to the movement, actions, intentions and affective state of others, which can provide foundational support for various aspects of social cognition and behavior. Given that atypical social communication and cognition are hallmark symptoms of autism spectrum disorder (ASD), many have theorized that a potential source of this deficit may lie in dysfunctional neural mechanisms of biological motion processing. Synthesis of existing literature provides some support for biological motion processing deficits in autism spectrum disorder, although high study heterogeneity and inconsistent findings complicate interpretation. Here, we attempted to reconcile some of this residual controversy by investigating a possible modulating role for attention in biological motion processing in ASD. METHODS: We employed high-density electroencephalographic recordings while participants observed point-light displays of upright, inverted and scrambled biological motion under two task conditions to explore spatiotemporal dynamics of intentional and unintentional biological motion processing in children and adolescents with ASD (n = 27), comparing them to a control cohort of neurotypical (NT) participants (n = 35). RESULTS: Behaviorally, ASD participants were able to discriminate biological motion with similar accuracy to NT controls. However, electrophysiologic investigation revealed reduced automatic selective processing of upright biologic versus scrambled motion stimuli in ASD relative to NT individuals, which was ameliorated when task demands required explicit attention to biological motion. Additionally, we observed distinctive patterns of covariance between visual potentials evoked by biological motion and functional social ability, such that Vineland Adaptive Behavior Scale-Socialization domain scores were differentially associated with biological motion processing in the N1 period in the ASD but not the NT group. LIMITATIONS: The cross-sectional design of this study does not allow us to definitively answer the question of whether developmental differences in attention to biological motion cause disruption in social communication, and the sample was limited to children with average or above cognitive ability. CONCLUSIONS: Together, these data suggest that individuals with ASD are able to discriminate, with explicit attention, biological from non-biological motion but demonstrate diminished automatic neural specificity for biological motion processing, which may have cascading implications for the development of higher-order social cognition.

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5. Kuo SS, van der Merwe C, Fu JM, Carey CE, Talkowski ME, Bishop SL, Robinson EB. Developmental Variability in Autism Across 17 000 Autistic Individuals and 4000 Siblings Without an Autism Diagnosis: Comparisons by Cohort, Intellectual Disability, Genetic Etiology, and Age at Diagnosis. JAMA Pediatr;2022 (Jul 18)

IMPORTANCE: Presence of developmental delays in autism is well established, yet few studies have characterized variability in developmental milestone attainment in this population. OBJECTIVE: To characterize variability in the age at which autistic individuals attain key developmental milestones based on co-occurring intellectual disability (ID), presence of a rare disruptive genetic variant associated with neurodevelopmental disorders (NDD), age at autism diagnosis, and research cohort membership. DESIGN: The study team harmonized data from 4 cross-sectional autism cohorts: the Autism Genetics Research Exchange (n = 3284; 1997-2015), The Autism Simplex Collection (n = 694; 2008-2011), the Simons Simplex Collection (n = 2753; 2008-2011), and the Simons Foundation Powering Autism Research for Knowledge (n = 10 367; 2016-present). The last sample further included 4145 siblings without an autism diagnosis or ID. PARTICIPANTS: Convenience sample of 21 243 autistic individuals or their siblings without an autism diagnosis aged 4 to 17 years. MAIN OUTCOMES AND MEASURES: Parents reported ages at which participants attained key milestones including smiling, sitting upright, crawling, walking, spoon-feeding self, speaking words, speaking phrases, and acquiring bladder and bowel control. A total of 5295 autistic individuals, and their biological parents, were genetically characterized to identify de novo variants in NDD-associated genes. The study team conducted time-to-event analyses to estimate and compare percentiles in time with milestone attainment across autistic individuals, subgroups of autistic individuals, and the sibling sample. RESULTS: Seventeen thousand ninety-eight autistic individuals (mean age, 9.15 years; 80.8% male) compared with 4145 siblings without autism or ID (mean age, 10.2 years; 50.2% female) showed delays in milestone attainment, with median (IQR) delays ranging from 0.7 (0.3-1.6) to 19.7 (11.4-32.2) months. More severe and more variable delays in autism were associated with the presence of co-occurring ID, carrying an NDD-associated rare genetic variant, and being diagnosed with autism by age 5 years. More severe and more variable delays were also associated with membership in earlier study cohorts, consistent with autism’s diagnostic and ascertainment expansion over the last 30 years. CONCLUSIONS AND RELEVANCE: As the largest summary to date of developmental milestone attainment in autism, to our knowledge, this study demonstrates substantial developmental variability across different conditions and provides important context for understanding the phenotypic and etiological heterogeneity of autism.

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6. Lu Y, Zhang L, Wu XY, Fei FR, Han H. Systematic Bibliometric and Visualized Analysis of Research Hotspots and Trends on Autism Spectrum Disorder Neuroimaging. Dis Markers;2022;2022:3372217.

BACKGROUND: Autism spectrum disorder (ASD) is a chronic developmental disability caused by differences in the brain. The gold standard for the diagnosis of this condition is based on behavioral science, but research on the application of neurological detection to diagnose the atypical nervous system of ASD is ongoing. ASD neuroimaging research involves the examination of the brain’s structure, functional connections, and neurometabolic. However, limited medical resource and the unique heterogeneity of ASD have resulted in many challenges when neuroimaging is utilized. OBJECTIVE: This bibliometric study is aimed at summarizing themes and trends in research on autism spectrum disorder neuroimaging and at proposing potential directions for future inquiry. METHODS: Citations were downloaded from the Web of Science Core Collection database on neuroimaging published from January 1, 2012, to December 31, 2021. The retrieved information was analyzed using Bibliometric.com, CiteSpace.5.8. R3, and VOS viewer. RESULTS: A total of 1,363 papers were published across 58 regions. The United States was the leading source of publications. The League of European Research Universities published the largest number of articles (171). Burst keywords from 2018 to 2021 include identification and network. The clusters of references that continued into 2020 included graph theory, functional connectivity, and classification, which represent key research topics. CONCLUSIONS: Imaging data is being used to identify neuro-network models with higher accuracy for ASD discrimination. Functional near-infrared imaging is advantageous compared to other neuroimaging. In the future, research on systematic and accurate computer-aided diagnosis technology should be encouraged. Moreover, the study of neuroimaging of ASD in different psychological and behavioral states can inspire new ideas about the diagnosis and intervention training of ASD and should be explored.

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7. Martinez VC, Turnage D. Social Support and Parenting Stress in Hispanic Parents of Children with Autism Spectrum Disorder. Issues Ment Health Nurs;2022 (Jul 18):1-11.

The purpose of this integrative review is to synthesize the literature examining the relationship between parenting stress and social support in Hispanic parents of children with autism spectrum disorder (ASD). A database search of studies that evaluated parenting stress and social support in this population was conducted. Fourteen studies met inclusion criteria. Despite high stress levels, both informal and formal social supports improved parenting stress among Hispanic families. Few studies evaluated culturally sensitive social support interventions. With the increasing prevalence of ASD, the development of culturally sensitive social support interventions is necessary to promote the well-being of Hispanic families.

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8. Shenouda J, Barrett E, Davidow AL, Sidwell K, Halperin W, Silenzio VMB, Zahorodny W. Disparities in Early Intervention Program Participation by Children With Autism Spectrum Disorder in a US Metropolitan Area, 2006 to 2016. JAMA Pediatr;2022 (Jul 18)

IMPORTANCE: Multiple studies have shown the value of early interventions for autism spectrum disorder (ASD). In the US, the Early Intervention Program (EIP) is mandated by law (Part C of the Individuals With Disabilities Education Act [IDEA]) to provide services to all young children with delays or disabilities. However, the extent to which children with ASD participate in this key service system is unknown. OBJECTIVES: To evaluate EIP use by children with ASD from 2006 to 2016 and to describe the factors associated with EIP participation. DESIGN, SETTING, AND PARTICIPANTS: This cross-sectional study used repeated data collected from 2006 to 2016 by active ASD surveillance of the New York-New Jersey metropolitan area as reported in the New Jersey Autism Study. The New Jersey Autism Study identified 4050 children aged 8 years with ASD from 2006 to 2016. Demographic and clinical data were collected and participation in an EIP was assessed through active surveillance. Data were analyzed from June to December 2021. EXPOSURE: Sociodemographic factors associated with the outcome of EIP participation. MAIN OUTCOMES AND MEASURES: Participation in an EIP assessed at age 8 years. Demographic, ecological, and clinical factors, as well as temporal patterns, were examined by using standard and multilevel logistic regression models. RESULTS: Among 4050 children aged 8 years with ASD by active surveillance, 1887 (46.6%) received EIP services. Of these children, 3303 (81.6%) were boys; 1105 (27.3%) were Hispanic, 801 (19.8%) were non-Hispanic Black, 1816 (44.8%) were non-Hispanic White, and 328 (8.1%) were non-Hispanic other (included Alaska Native or American Indian and Asian or Pacific Islander). In adjusted regression models, non-Hispanic Black children with ASD had lower odds of EIP participation (adjusted odds ratio [AOR], 0.67; 95% CI, 0.54-0.84) compared with their non-Hispanic White peers, and children residing in affluent areas had higher odds of receiving EIP services (AOR, 1.71; 95% CI, 1.36-2.15) compared with children residing in underserved areas. Children with ASD born in 2008 had higher odds of EIP participation than children born in 1998 (AOR, 2.64; 95% CI, 2.07-3.36). CONCLUSIONS AND RELEVANCE: Early identification of ASD is an important public health priority and receipt of EIP services may improve ASD outcomes. Approximately half of the population of children aged 8 years with ASD received EIP services between 2006 and 2016, and EIP participation by children with ASD increased during the 10-year period. However, receipt of EIP services was marked by strong socioeconomic status- and race and ethnicity-based disparities. Universal ASD screening and additional strategies are needed to address disparities and to increase access to EIP services.

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9. Skorich DP, Haslam SA. The integrated self-categorization model of autism. Psychol Rev;2022 (Jul 18)

In this article, we formally present the Integrated Self-Categorization model of Autism (ISCA). This model brings together the cognitive-perceptual and social-communication features of autism under a single explanatory framework. Specifically, ISCA proposes that the social-communication features that are related to theory of mind dysfunction emerge from the cognitive-perceptual features related to enhanced perceptual functioning and weak central coherence, and proposes that they are linked by dysfunction in the self-categorization process. We present the assumptions on which the model is based, and from these, we derive a set of precise, testable hypotheses, including a set of novel hypotheses that do not emerge from any existing models of autism. We then provide evidence that supports the model, derived from a number of direct tests of the hypotheses that it generates. We conclude by discussing the implications of the model for understanding autism and for intervention to improve the lives of autistic people, as well as future directions. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

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10. Wang L, Ong JH, Ponsot E, Hou Q, Jiang C, Liu F. Mental representations of speech and musical pitch contours reveal a diversity of profiles in autism spectrum disorder. Autism;2022 (Jul 18):13623613221111207.

As a key auditory attribute of sounds, pitch is ubiquitous in our everyday listening experience involving language, music and environmental sounds. Given its critical role in auditory processing related to communication, numerous studies have investigated pitch processing in autism spectrum disorder. However, the findings have been mixed, reporting either enhanced, typical or impaired performance among autistic individuals. By investigating top-down comparisons of internal mental representations of pitch contours in speech and music, this study shows for the first time that, while autistic individuals exhibit diverse profiles of pitch processing compared to non-autistic individuals, their mental representations of pitch contours are typical across domains. These findings suggest that pitch-processing mechanisms are shared across domains in autism spectrum disorder and provide theoretical implications for using music to improve speech for those autistic individuals who have language problems.

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11. Yi J, Kim W, Lee J. Effectiveness of the SCERTS Model-Based Interventions for Autistic Children: A Systematic Review. J Speech Lang Hear Res;2022 (Jul 18);65(7):2662-2676.

PURPOSE: This systematic review aimed to examine the effectiveness of the Social Communication, Emotional Regulation, and Transactional Support (SCERTS) Model-based interventions in supporting developmental skills of children who were diagnosed with or at increased likelihood of autism. METHOD: We searched six electronic databases, in addition to Google Scholar and the reference lists, using terms related to SCERTS, the Early Social Interaction project, and autism spectrum disorder. Of the 70 articles, six published between 2014 and 2021 (a total of 455 children) were eligible for inclusion and were analyzed in terms of study design, type of publication, participant characteristics, intervention procedures, and major findings. RESULTS: Most reviewed studies that were relatively less vulnerable to the given risk of bias suggested that SCERTS may be an effective approach for promoting children’s social communication skills, and implementers were able to achieve an adequate level of intervention fidelity through training. Further implications could not be drawn concerning children’s language, reduction in restricted repetitive behaviors, emotional regulation, adaptive behavior, play, cognitive skills, academic competence, and motor skills due to contradicting findings within limited evidence. CONCLUSIONS: Although SCERTS is a promising intervention with emerging evidence, more methodologically rigorous studies are needed to progress the research base of SCERTS and draw firm conclusions about its effectiveness in improving a wide range of skills for children and implementers. Several areas for future research are discussed. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.20151842.

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