1. Akol I, Izzo A, Gather F, Strack S, Heidrich S, D Óh, Villarreal A, Hacker C, Rauleac T, Bella C, Fischer A, Manke T, Vogel T. Multimodal epigenetic changes and altered NEUROD1 chromatin binding in the mouse hippocampus underlie FOXG1 syndrome. Proceedings of the National Academy of Sciences of the United States of America. 2023; 120(2): e2122467120.

Forkhead box G1 (FOXG1) has important functions in neuronal differentiation and balances excitatory/inhibitory network activity. Thus far, molecular processes underlying FOXG1 function are largely unexplored. Here, we present a multiomics data set exploring how FOXG1 impacts neuronal maturation at the chromatin level in the mouse hippocampus. At a genome-wide level, FOXG1 i) both represses and activates transcription, ii) binds mainly to enhancer regions, iii) reconfigures the epigenetic landscape through bidirectional alteration of H3K27ac, H3K4me3, and chromatin accessibility, and iv) operates synergistically with NEUROD1. Interestingly, we could not detect a clear hierarchy of FOXG1 and NEUROD1, but instead, provide the evidence that they act in a highly cooperative manner to control neuronal maturation. Genes affected by the chromatin alterations impact synaptogenesis and axonogenesis. Inhibition of histone deacetylases partially rescues transcriptional alterations upon FOXG1 reduction. This integrated multiomics view of changes upon FOXG1 reduction reveals an unprecedented multimodality of FOXG1 functions converging on neuronal maturation. It fuels therapeutic options based on epigenetic drugs to alleviate, at least in part, neuronal dysfunction.

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2. Alibekova R, Kai Chan C, Crape B, Kadyrzhanuly K, Gusmanov A, An S, Bulekbayeva S, Akhmetzhanova Z, Ainabekova A, Yerubayev Z, Yessimkulova F, Bekisheva A, Ospanova Z, Rakhimova M. Stress, anxiety and depression in parents of children with autism spectrum disorders in Kazakhstan: prevalence and associated factors. Global mental health (Cambridge, England). 2022; 9: 472-82.

INTRODUCTION: Studies worldwide reported increased levels of stress among parents of children with autism due to the unique caregiving challenges. While research has shown that parents’ and autistic child’s demographics and behavioral characteristics are associated with psychological distress among caregivers of children with autism, very few studies have investigated the impact of the caregiver’s unmet needs on various aspects of the perceived family burden. METHODS: This cross-sectional study examined the prevalence of stress, anxiety and depressive symptoms among a wide range of 146 parents with different sociodemographic characteristics, social support and unmet needs who care for children with autism spectrum disorder. These parents were recruited from autism non-governmental organizations and the National Children’s Rehabilitation Center in Astana, Kazakhstan, a post-Soviet country in Central Asia. Multiple linear regression analyses were utilized to examine the relationship of parental psychological distress variables with social support, unmet needs and parental and child sociodemographic characteristics. RESULTS: Significantly higher levels of stress and depression were reported among parents who perceived their needs as being unmet or extremely unmet as addressed by societal acceptance as compared to parents who reported adequate levels of needs met by social acceptance. Employed parents and parents with a higher level of perceived friends’ support had less symptoms of stress, anxiety, and depression. CONCLUSIONS: Increasing public awareness about autism and providing early detection and interventions for distressed caregivers of children with autism may be helpful in improving healthy functioning of parents and the entire family.

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3. Al-Mazidi SH, Al-Ayadhi LY. Reply to: « Qualitative Evaluation of α-Synuclein: A Critical Step in Unravelling the Complexities of Autism Spectrum Disorder ». Medical principles and practice : international journal of the Kuwait University, Health Science Centre. 2023: 1.

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4. Barokova MD, Andreeva-Sapundzhieva A, Andonova E, Markova-Derelieva G, Karpur A. Diagnostic paths and service needs of children with autism spectrum disorder and with other neurodevelopmental disorders in Bulgaria. Frontiers in psychiatry. 2022; 13: 937516.

BACKGROUND: Currently, there are no official statistics about the number of children with developmental disorders in Bulgaria. This is the first systematic investigation of the needs, access to services, and priorities of families of children with developmental disorders in the country. AIMS: The study aims to: (1) characterize the needs of children with developmental disorders in Bulgaria; (2) to compare the needs and access to services of children with Autism Spectrum Disorders (ASD) and other neurodevelopmental disorders (oNDD); (3) and to examine the daily burden of their caregivers and how it varies based on their demographic characteristics, such as income and education. METHODS: We used an online family needs assessment survey to collect data from caregivers of children with developmental disorders in Bulgaria between April and July 2020. 195 parents of children with ASD and 73 parents of children with oNDD completed the questionnaire. RESULTS: Children with ASD waited longer than children with oNDD to receive a diagnosis. Caregivers in the ASD group also expressed first concerns about their child’s development when their children were older and for different reasons than caregivers in the oNDD group. There were no significant differences between groups in service encounters, including access to and delay of medical, counseling, and educational services, with approximately 50% of all caregivers experiencing some delay and/or difficulties in access to services. There were no associations between access to services and caregiver education and family income, with the exception of higher education being linked to receiving a diagnosis earlier for the oNDD group. DISCUSSION: This study has three main findings: (1) children with ASD and children with oNDD in Bulgaria have different needs and paths to diagnosis; (2) nevertheless, children in both groups experience similar challenges in accessing medical, counseling, and educational services, regardless of their demographic characteristics; and (3) parents’ priorities focus on education, counseling, and medical support, protecting children’s basic rights, and raising awareness. A comparison of our findings to past research in the region shows a relative improvement in diagnostic services with families not having to travel outside their city to receive a diagnosis. Based on our findings, we provide specific recommendations for changes in services and policy.

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5. Bradley RS, Staples GL, Quetsch LB, Aloia LS, Brown CE, Kanne SM. Associations Between Parenting Stress and Quality Time in Families of Youth with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2023: 1-12.

Increased stress among parents of youth with ASD has been well-documented. However, research on aspects of the parent-child relationship and subsequent links to parenting stress is limited. We assessed parents (N = 511) of youth with ASD to examine relations between parenting stress and parent-child quality time (amount of quality time, shared enjoyment, synchronicity). Elevated parenting stress was associated with less time spent engaging with youth in shared activities and decreased parent and child enjoyment during shared interactions. Parents with elevated stress reported engaging in shared activities and experiencing synchronicity with their child less often than parents below the clinical threshold. Future research should emphasize longitudinal efforts examining the directionality of this relationship to better inform family-focused intervention.

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6. Brandalise F, Kalmbach BE, Cook EP, Brager DH. Impaired dendritic spike generation in the Fragile X prefrontal cortex is due to loss of dendritic sodium channels. The Journal of physiology. 2023.

Dendritic spike threshold is depolarized in Layer 5 PFC neurons in FX mice Simultaneous somatic and dendritic recording with white noise current injections revealed that larger dendritic stimuli were required to elicit dendritic spikes in FX ET neurons Outside-out patch clamp recording revealed that dendritic sodium conductance density was lower in FX ET neurons ABSTRACT: Patients with Fragile X syndrome, the leading monogenetic cause of autism, suffer from impairments related to the prefrontal cortex including working memory and attention. Synaptic inputs to the distal dendrites of layer 5 pyramidal neurons in the prefrontal cortex have a weak influence on the somatic membrane potential. To overcome this filtering, distal inputs are transformed into local dendritic Na(+) spikes, which propagate to the soma and trigger action potential output. Layer 5 extratelencephalic (ET) PFC neurons project to the brainstem and various thalamic nuclei and are therefore well positioned to integrate task-relevant sensory signals and guide motor actions. We used current clamp and outside-out patch clamp recording to investigate dendritic spike generation in ET neurons from male wild type and Fmr1 knockout (FX) mice. The threshold for dendritic spikes was more depolarized in FX neurons compared to wild type. Analysis of voltage responses to simulated in vivo ‘noisy’ current injections showed that a larger dendritic input stimulus was required to elicit dendritic spikes in FX ET dendrites compared to wild type. Patch clamp recordings revealed that the dendritic Na(+) conductance was significantly smaller in FX ET dendrites. Taken together, our results suggest that the generation of Na(+) -dependent dendritic spikes is impaired in ET neurons of the PFC in FX mice. Considering our prior findings that somatic D-type K(+) and dendritic HCN-channel function is reduced in ET neurons, we suggest that dendritic integration by PFC circuits is fundamentally altered in Fragile X syndrome. Abstract figure legend Loss of dendritic sodium conductance in layer 5 ET neurons in the prefrontal cortex of Fragile X mice. Dendritic sodium channels are critical to the generation of sodium spikes in the dendrites of layer 5 pyramidal neurons in the mouse prefrontal cortex. In L5 PFC neurons of FX mice (red) the threshold for dendritic sodium spikes is depolarized due to a reduced dendritic sodium conductance. This article is protected by copyright. All rights reserved.

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7. Brown MM, Kubina RM, Jr. Increasing Confident Thoughts in an Adolescent With Autism: A Pilot Study. Behavior analysis in practice. 2022; 15(4): 1396-401.

Private events such as thoughts and feelings occur within the individual and are inaccessible to outside observers. Creating interventions for troublesome private events, therefore, is challenging. Precision teaching has a number of studies where participants self-count targeted private events and intervene by engaging in 1-min timings of positive thoughts. The present pilot study extended the 1-min timing procedure to a 15-year-old girl with autism spectrum disorder. After the intervention, the participant’s level of despondent thoughts dropped by ÷4.55 in level, with lower levels of anxiety and depression as measured by the Beck Anxiety Inventory and the Beck Depression Inventory.

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8. Cao S, Wang Y, Yang X, Jin Q, Hui-Michael Y, Xie D. Key competencies of students with autism spectrum disorders: Perspectives of Chinese teachers and parents. Frontiers in psychology. 2022; 13: 1054249.

Well-defined key competencies for students with autism spectrum disorders (ASD) help develop curriculum and pedagogies that emphasize what students with ASD are expected to learn, to know and to do. Most of the current research on the key competencies of ASD is theoretical and based on the social and cultural backgrounds of western countries. The key competencies defined by most of the research lack of the support of empirical evidence. This study sought to identify the key competencies of school-age students with ASD from the perspectives of teachers and parents. Based on the review of existing key competencies frameworks, a key competencies instrument that consisted of 76 learning outcome items in eight domain areas was developed. An online survey to explore the teachers’ and parents’ views of the key competencies was conducted with 1,618 teachers and 2,430 parents of students with ASD across China. The results showed that teachers believed that the key competencies should consist of eight domain areas including social-communication, learning skills, healthy living, play, motor, emotion, sensory processing, and cognition, while the cognition related competencies were not recognized by parents. The competencies in social-communication, learning skills, healthy living had higher variance contribution. From the perspective of teachers, the variance contribution of social communication was the highest, while from the perspective of parents, the variance contribution of learning skills was the largest. Taken together, the key competencies framework for students with ASD should include eight dimensions and 75 learning outcome items. The similarities and differences between the perspectives of the two group were discussed. The findings could provide empirical data to assist in developing educational guidelines and guide the development of models of support for students with ASD.

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9. Cary E, Pacheco D, Kaplan-Kahn E, McKernan E, Matsuba E, Prieve B, Russo N. Brain Signatures of Early and Late Neural Measures of Auditory Habituation and Discrimination in Autism and Their Relationship to Autistic Traits and Sensory Overresponsivity. Journal of autism and developmental disorders. 2023.

Sensory differences are included in the DSM-5 criteria of autism for the first time, yet it is unclear how they relate to neural indicators of perception. We studied early brain signatures of perception and examined their relationship to sensory behaviors and autistic traits. Thirteen autistic children and 13 Typically Developing (TD) children matched on age and nonverbal IQ participated in a passive oddball task, during which P1 habituation and P1 and MMN discrimination were evoked by pure tones. Autistic children had less neural habituation than the TD comparison group, and the MMN, but not P1, mapped on to sensory overresponsivity. Findings highlight the significance of temporal and contextual factors in neural information processing as it relates to autistic traits and sensory behaviors.

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10. Colijn MA, Lakusta CM, Marcadier JL. Psychosis and autism without functional regression in a patient with Kleefstra syndrome. Psychiatric genetics. 2023; 33(1): 34-6.

Kleefstra syndrome is a rare genetic disorder caused by haploinsufficiency of the euchromatic histone lysine methyltransferase 1 (EHMT1) gene. It is characterized by a variety of dysmorphic features, comorbid medical issues, and developmental delays/intellectual disability. Neuropsychiatric symptoms may also occur, including autistic features and psychosis, and are often accompanied by functional regression. However, the phenomenology of psychotic symptoms in this syndrome has not been well described in the literature. As such, in this brief report, we review the literature with respect to the occurrence of psychosis in Kleefstra syndrome and describe the symptom profile of a 35-year-old affected male with an intellectual disability, autism spectrum disorder, and schizophrenia (in association with manic features). This is the first report of psychotic symptoms fully remitting in response to zuclopenthixol therapy in an individual with Kleefstra syndrome. This case is also unique as it demonstrates that functional regression does not necessarily coincide with the development of schizophrenia-like presentations in affected individuals.

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11. Davidson C, Turner F, Gillberg C, Campbell SL, Boyd S, Minnis H. Using the live assessment to discriminate between Autism Spectrum Disorder and Disinhibited Social Engagement Disorder. Research in developmental disabilities. 2023; 134: 104415.

BACKGROUND: Children with Autism Spectrum Disorder (ASD) and children with Disinhibited Social Engagement Disorder (DSED) may present with similar social problems, despite differing aetiologies, resulting in diagnostic conundrums. METHODS: Thirty children: 10 with ASD, no maltreatment history, 10 with DSED and 10 typically developing children were assessed via ‘gold standard’ ASD assessments, including the Autism Diagnostic Observational Schedule (ADOS) and a unique unstructured observation known as the Live assessment. Live utilises a triadic interaction (2 assessors and child), playful teasing and social ‘stress’ scenarios to increase the social challenge. RESULTS: The ADOS supported discrimination of DSED from ASD to a degree. Where additional neurodevelopmental problems created ambiguity, the Live assessment was more supportive than the ADOS for unpicking the underlying nature of the social problems. CONCLUSION: Live supported differentiation between ASD, DSED and other neurodevelopmental problems. The greater social challenge presented by Live exacerbated core problems of ASD and, in DSED, core social skills stood out.

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12. Desaunay P, Guillery B, Moussaoui E, Eustache F, Bowler DM, Guénolé F. Brain correlates of declarative memory atypicalities in autism: a systematic review of functional neuroimaging findings. Molecular autism. 2023; 14(1): 2.

The long-described atypicalities of memory functioning experienced by people with autism have major implications for daily living, academic learning, as well as cognitive remediation. Though behavioral studies have identified a robust profile of memory strengths and weaknesses in autism spectrum disorder (ASD), few works have attempted to establish a synthesis concerning their neural bases. In this systematic review of functional neuroimaging studies, we highlight functional brain asymmetries in three anatomical planes during memory processing between individuals with ASD and typical development. These asymmetries consist of greater activity of the left hemisphere than the right in ASD participants, of posterior brain regions-including hippocampus-rather than anterior ones, and presumably of the ventral (occipito-temporal) streams rather than the dorsal (occipito-parietal) ones. These functional alterations may be linked to atypical memory processes in ASD, including the pre-eminence of verbal over spatial information, impaired active maintenance in working memory, and preserved relational memory despite poor context processing in episodic memory.

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13. Desquenne Godfrey G, Downes N, Cappe E. A Systematic Review of Family Functioning in Families of Children on the Autism Spectrum. Journal of autism and developmental disorders. 2023.

This article aims to review the literature on family functioning in the field of autism. The search was conducted in August 2021 in PubMed, PsycINFO, and PubPsy and sixty-two articles were included. Studies were published in English between 1980 and 2021 and provided quantitative data from validated measures of family functioning in families with an official diagnosis of autism. Results showed that family functioning appeared more problematic for families of autistic children than non-autistic ones. Difficulties were correlated with more caregiver demand and less resources. Interventional results varied. The findings highlight the importance of considering family functioning when providing care for autistic children and their families. Limitations and implications for future research are discussed.Prospero registration number: CRD42022297696.

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14. Dutra ML, Dias P, Freiberger V, Ventura L, Comim CM, Martins DF, Bobinski F. Maternal immune activation induces autism-like behavior and reduces brain-derived neurotrophic factor levels in the hippocampus and offspring cortex of C57BL/6 mice. Neuroscience letters. 2023; 793: 136974.

Prenatal factors such as viral or bacterial infections occurring mainly during the first trimesters of pregnancy can increase the incidence of autism spectrum disorder (ASD) in children. In an animal model, it is already known that maternal immune activation (MIA) induces autistic-like behavior. However, it is unclear whether this behavior presents itself in young animals. In this preclinical experimental study, we investigated in the offspring of C57BL/6 female mice submitted to MIA with lipopolysaccharide (LPS), typically altered behaviors in ASD, such as social interaction and stereotyped self-grooming movement, as well as the levels of the brain-derived neurotrophic factor (BDNF) and interleukin 17A (IL-17A) in the hippocampus and cortex, at 28 and 60 days. Adult animals aged 60 days, offspring of females submitted to MIA, showed a decrease in the time of social interaction and an increase in the number of self-cleaning movements. In the hippocampus of the offspring of females submitted to MIA, a decrease in BDNF levels was found at 28 days and 60 days of life, and a decrease in IL-17A levels only at 60 days. The levels of BDNF and IL-17A did not change in the cortex of the offspring of mice submitted to MIA at the evaluated times. Young animals aged 28 days still showed typical behavior, without social deficits and stereotyped movements that characterize ASD, which suggests that at this age it is still not possible to observe the repercussions of MIA in this model. In the neurochemical issues of the hippocampal region, impairment of BDNF levels has already been demonstrated, which may be an important factor for the observation of ASD-like behaviors in adult mice at 60 days.

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15. Fears NE, Sherrod GMC, Templin TN, Bugnariu NL, Patterson RM, Miller HL. Community-based postural control assessment in autistic individuals indicates a similar but delayed trajectory compared to neurotypical individuals. Autism research : official journal of the International Society for Autism Research. 2023.

Autistic individuals exhibit significant sensorimotor differences. Postural stability and control are foundational motor skills for successfully performing many activities of daily living. In neurotypical development, postural stability and control develop throughout childhood and adolescence. In autistic development, previous studies have focused primarily on individual age groups (e.g., childhood, adolescence, adulthood) or only controlled for age using age-matching. Here, we examined the age trajectories of postural stability and control in autism from childhood through adolescents using standardized clinical assessments. In study 1, we tested the postural stability of autistic (n = 27) and neurotypical (n = 41) children, adolescents, and young adults aged 7-20 years during quiet standing on a force plate in three visual conditions: eyes open (EO), eyes closed (EC), and eyes open with the head in a translucent dome (Dome). Postural sway variability decreased as age increased for both groups, but autistic participants showed greater variability than neurotypical participants across age. In study 2, we tested autistic (n = 21) and neurotypical (n = 32) children and adolescents aged 7-16 years during a dynamic postural control task with nine targets. Postural control efficiency increased as age increased for both groups, but autistic participants were less efficient compared to neurotypical participants across age. Together, these results indicate that autistic individuals have a similar age trajectory for postural stability and control compared to neurotypical individuals, but have lower postural stability and control overall.

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16. Gevarter C, Prieto V, Binger C, Hartley M. Dynamic Assessment of AAC Action Verb Symbols for Children with ASD. Advances in neurodevelopmental disorders. 2023: 1-15.

OBJECTIVES: The purpose of this study was to determine whether children with autism spectrum disorder (ASD) make progress in learning to use action verb symbols on augmentative and alternative communication (AAC) applications across different communicative functions (requesting, labeling) and instructional formats (embedded instruction, discrete trial teaching). METHODS: Four preschool-aged children completed graduated prompting dynamic assessment sessions in which they were provided with varying levels of support (e.g., models, gestures) across three instructional conditions: (a) requesting actions embedded in play, (b) labeling actions embedded in play, and (c) labeling actions presented via video during discrete trial teaching. An adapted multielement single-case design was used to compare participants’ abilities to use symbols with different levels of support across the instructional conditions and a control. RESULTS: Differences between instructional and control conditions were established for three participants. Three participants also reduced the levels of support they needed to use symbols in at least two instructional conditions. Although participants initially required lower levels of support (i.e., less restrictive prompts) in the requesting condition compared to labeling conditions, these differences only maintained for one participant. Across participants, differences between labeling conditions were minimal. CONCLUSIONS: Although children with ASD can use verb symbols with low levels of support during DA, additional intervention may be needed to increase independent responding. Individual characteristics may influence success across communicative functions.

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17. Hirota T, King BH. Autism Spectrum Disorder: A Review. Jama. 2023; 329(2): 157-68.

IMPORTANCE: Autism spectrum disorder (ASD), characterized by deficits in social communication and the presence of restricted, repetitive behaviors or interests, is a neurodevelopmental disorder affecting approximately 2.3% children aged 8 years in the US and approximately 2.2% of adults. This review summarizes evidence on the diagnosis and treatment of ASD. OBSERVATIONS: The estimated prevalence of ASD has been increasing in the US, from 1.1% in 2008 to 2.3% in 2018, which is likely associated with changes in diagnostic criteria, improved performance of screening and diagnostic tools, and increased public awareness. No biomarkers specific to the diagnosis of ASD have been identified. Common early signs and symptoms of ASD in a child’s first 2 years of life include no response to name when called, no or limited use of gestures in communication, and lack of imaginative play. The criterion standard for the diagnosis of ASD is a comprehensive evaluation with a multidisciplinary team of clinicians and is based on semistructured direct observation of the child’s behavior and semistructured caregiver interview focused on the individual’s development and behaviors using standardized measures, such as the Autism Diagnostic Observation Schedule-Second Edition and the Autism Diagnostic Interview. These diagnostic measures have sensitivity of 91% and 80% and specificity of 76% and 72%, respectively. Compared with people without ASD, individuals with ASD have higher rates of depression (20% vs 7%), anxiety (11% vs 5%), sleep difficulties (13% vs 5%), and epilepsy (21% with co-occurring intellectual disability vs 0.8%). Intensive behavioral interventions, such as the Early Start Denver Model, are beneficial in children 5 years or younger for improvement in language, play, and social communication (small to medium effect size based on standardized mean difference). Pharmacotherapy is indicated for co-occurring psychiatric conditions, such as emotion dysregulation or attention-deficit/hyperactivity disorder. Risperidone and aripiprazole can improve irritability and aggression (standardized mean difference of 1.1, consistent with a large effect size) compared with placebo. Psychostimulants are effective for attention-deficit/hyperactivity disorder (standardized mean difference of 0.6, consistent with a moderate effect size) compared with placebo. These medications are associated with adverse effects including, most commonly, changes in appetite, weight, and sleep. CONCLUSIONS AND RELEVANCE: ASD affects approximately 2.3% of children aged 8 years and approximately 2.2% of adults in the US. First-line therapy consists of behavioral interventions, while co-occurring psychiatric conditions, such as anxiety or aggression, may be treated with specific behavioral therapy or medication.

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18. Hoffmann A. Communication in fragile X syndrome: Patterns and implications for assessment and intervention. Frontiers in psychology. 2022; 13: 929379.

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and is associated with a high rate of autism diagnosis. Language delays have been noted in the areas of overall communication and the specific areas of receptive, expressive, and pragmatic language, as well as in development of speech sounds and literacy. It has been widely noted that those individuals with a diagnosis of both FXS and autism tend to have more significant intellectual disability and language disorder. In this study, the research exploring the FXS language phenotype is presented, and the roles of cognition, autistic symptomatology, and gender are highlighted as possible. Implications for assessment and intervention approaches based on the strengths and weaknesses of the FXS language phenotype are provided.

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19. Jackson JW, Dunkel-Jackson SM, Dixon MR, Szekely S. Effectiveness of Environmental Manipulation to Enhance Engagement and Ecological Validity at an Agency Serving Individuals With Autism Spectrum Disorder and Other Disabilities. Behavior analysis in practice. 2022; 15(4): 1390-5.

The ecological validity of interventions can be enhanced when we first consider the environment in which our students participate. Antecedent interventions such as environmental manipulations can be easily and effectively implemented to enhance student engagement and decrease challenging behaviors in classrooms. The current study explored the use of a measurement system developed for widespread use within a school for students with autism spectrum disorder that helped to inform a classroom-wide environmental manipulation in the form of classroom arrangements. Baseline data across three classrooms suggested high, variable rates of challenging behavior and low rates of engagement with staff and materials. After the introduction of the antecedent intervention, engagement increased and challenging behavior decreased. Helping practitioners develop environmental and systems changes may help to complement individual behavior intervention plans.

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20. Jang J, Matson JL, Williams LW, Tureck K, Goldin RL, Cervantes PE. Retraction notice to Rates of comorbid symptoms in children with ASD, ADHD, and comorbid ASD and ADHD [Research in Developmental Disabilities 34/8 (2013) 2369-2378]. Research in developmental disabilities. 2023: 104425.

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21. Kassee C, Lunsky Y, Patrikar A, Brown HK. Impact of social-, health-, and disability-related factors on pregnancy outcomes in women with intellectual and developmental disabilities: A population-based latent class analysis. Disability and health journal. 2022: 101426.

BACKGROUND: Studies have shown women with intellectual and developmental disabilities (IDD) have elevated risks of perinatal complications, but few studies have examined how social, health, and disability-related factors affect these risks. OBJECTIVES: To identify and describe subgroups of pregnant women with IDD according to social, health, and disability-related factors and examine the risks of perinatal complications in these subgroups compared to women without IDD. METHODS: We performed a population-based cohort study in Ontario, Canada, of women with (n = 1922) and without (n = 1,126,854) IDD, with a singleton birth in 2003-2018. We used latent class analysis (LCA) to identify subgroups of women according to social (e.g., age), health (e.g., chronic medical conditions), and disability-related (e.g., IDD type) characteristics. Modified Poisson regression was then used to compare the risks of hypertensive disorders of pregnancy, cesarean delivery, and preterm birth across identified subgroups to women without IDD. RESULTS: The LCA identified 4 classes of women with IDD: (1) young women who were mostly healthy and had little primary care before pregnancy (n = 253); (2) older women who were mostly healthy (n = 795); (3) young to mid-aged women who had significant comorbidities (n = 181); and (4) young women, many of whom were autistic, who had some medical comorbidities and significant psychiatric comorbidities (n = 693). Class 3 consistently had the greatest risks of perinatal complications, across all IDD groups, compared to women without IDD. CONCLUSIONS: These findings underscore the importance of multidisciplinary care approaches tailored to the needs of at-risk women with IDD, in the preconception and perinatal periods.

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22. Keesey-Phelan SH, Axe JB, Williams AL. The Effects of Teaching a Problem-Solving Strategy on Recalling Past Events with a Child with Autism. The Analysis of verbal behavior. 2022; 38(2): 190-8.

Problem-solving strategies, such as visual imagining and self-questioning, may assist children with autism spectrum disorder (ASD) in recalling past events. In the current study, at the start of each session, a 7-year-old boy with ASD engaged in a novel activity with a behavior therapist who took pictures of the activity. Ninety minutes later, a different therapist asked the participant to describe the prior activity. The intervention consisted of showing the participant pictures of the activity, telling him to close his eyes and imagine the activity, modeling asking and answering seven questions (e.g., « Who was there? » « What was one thing that happened? »), prompt fading, and reinforcement. Following the intervention, recall statements increased.

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23. Knaus TA, Burns CO, Kamps J, Foundas AL. Action viewing and language in adolescents with autism spectrum disorder. Experimental brain research. 2023.

The mirror neuron system consists of fronto-parietal regions and responds to both goal-directed action execution and observation. The broader action observation network is specifically involved in observation of actions and is thought to play a role in understanding the goals of the motor act, the intention of others, empathy, and language. Many, but not all, studies have found mirror neuron system or action observation network dysfunction in autism spectrum disorder. The objective of this study was to use observation of a goal-directed action fMRI paradigm to examine the action observation network in autism spectrum disorder and to determine whether fronto-parietal activation is associated with language ability. Adolescents with autism spectrum disorder (n = 23) were compared to typically developing adolescents (n = 20), 11-17 years. Overall, there were no group differences in activation, however, the autism spectrum group with impaired expressive language (n = 13) had significantly reduced inferior frontal and inferior parietal activation during action viewing. In controls, right supramarginal gyrus activation was associated with higher expressive language; bilateral supramarginal and left pars opercularis activation was associated with better verbal-gesture integration. Results suggest that action-observation network dysfunction may characterize a subgroup of individuals with autism spectrum disorder with expressive language deficits. Therefore, interventions that target this dysfunctional network may improve expressive language in this autism spectrum subgroup. Future treatment studies should individualize therapeutic approaches based on brain-behavior relationships.

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24. Leung CS, Rosenzweig S, Yoon B, Marinelli NA, Hollingsworth EW, Maguire AM, Cowen MH, Schmidt M, Imitola J, Gamsiz Uzun ED, Lizarraga SB. Dysregulation of the chromatin environment leads to differential alternative splicing as a mechanism of disease in a human model of autism spectrum disorder. Human molecular genetics. 2023.

Autism spectrum disorder (ASD) affects 1 in 44 children. Chromatin regulatory proteins are overrepresented among genes that contain high risk variants in ASD. Disruption of the chromatin environment leads to widespread dysregulation of gene expression, which is traditionally thought of as a mechanism of disease pathogenesis associated with ASD. Alternatively, alterations in chromatin dynamics could also lead to dysregulation of alternative splicing, which is understudied as a mechanism of ASD pathogenesis. The anticonvulsant valproic acid (VPA) is a well-known environmental risk factor for ASD that acts as a class I histone deacetylase (HDAC) inhibitor. However, the precise molecular mechanisms underlying defects in human neuronal development associated with exposure to VPA are understudied. To dissect how VPA exposure and subsequent chromatin hyperacetylation influence molecular signatures involved in ASD pathogenesis, we conducted RNA sequencing (RNA-seq) in human cortical neurons that were treated with VPA. We observed that differentially expressed genes (DEGs) were enriched for mRNA splicing, mRNA processing, histone modification, and metabolism related gene sets. Furthermore, we observed widespread increase in the number and the type of alternative splicing events. Analysis of differential transcript usage (DTU) showed that exposure to VPA induces extensive alterations in transcript isoform usage across neurodevelopmentally important genes. Finally, we find that DEGs and genes that display DTU overlap with known ASD-risk genes. Together, these findings suggest that, in addition to differential gene expression, changes in alternative splicing correlated with alterations in the chromatin environment could act as an additional mechanism of disease in ASD.

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25. Liu H, Ding L, Qu G, Guo X, Liang M, Ma S, Sun Y. Particulate matter exposure during pregnancy and infancy and risks of autism spectrum disorder in children: A systematic review and meta-analysis. The Science of the total environment. 2023; 855: 158830.

PURPOSE: This meta-analysis aimed to clarify the relationship between particulate matter (PM) and autism spectrum disorder (ASD) in detail. METHODS: A systematic literature search was performed using eight databases before April 9, 2022. The estimated effects were combined separately according to the PM type. Subgroup analyses were conducted in terms of the study design type, study location, exposure window, birth year, and sex. RESULTS: PM(2.5) was associated with an increased risk of ASD, while PM(10) was not. PMc, PM(1), and diesel particulate matter (DPM) were also associated with an increased risk of ASD. Specifically, a 10 μg/m(3) increase in PM(2.5) was associated with a 1.337-fold increased risk of ASD in children, and a 10 μg/m(3) increase in PMc and PM(1) may increase the risk of ASD by 1.062 and 3.643 times, respectively. PM(2.5) exposure may increase the risk of ASD in boys. Exposure to PMc might increase the risk of ASD in children born after the year 2000. The combined results of different PM differed between studies with continuous and non-continuous data for different study design type, study location, and birth year. The sensitive window for PM(2.5) exposure to increase the risk of ASD may be from the first, second, and third trimesters to the first year of the postnatal period. Exposure to PMc during pregnancy was significantly associated with ASD. CONCLUSION: Exposure to PM(2.5) may increase the risk of ASD in boys. Exposure to PM(2.5) during the first, second, and third trimesters and postnatally increased the risk of ASD.

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26. Mitchell DE, Miranda-Rottmann S, Blanchard M, Araya R. Altered integration of excitatory inputs onto the basal dendrites of layer 5 pyramidal neurons in a mouse model of Fragile X syndrome. Proceedings of the National Academy of Sciences of the United States of America. 2023; 120(2): e2208963120.

Layer 5 (L5) pyramidal neurons receive predictive and sensory inputs in a compartmentalized manner at their apical and basal dendrites, respectively. To uncover how integration of sensory inputs is affected in autism spectrum disorders (ASD), we used two-photon glutamate uncaging to activate spines in the basal dendrites of L5 pyramidal neurons from a mouse model of Fragile X syndrome (FXS), the most common genetic cause of ASD. While subthreshold excitatory inputs integrate linearly in wild-type animals, surprisingly those with FXS summate sublinearly, contradicting what would be expected of sensory hypersensitivity classically associated with ASD. We next investigated the mechanism underlying this sublinearity by performing knockdown of the regulatory β4 subunit of BK channels, which rescued the synaptic integration, a result that was corroborated with numerical simulations. Taken together, these findings suggest that there is a differential impairment in the integration of feedforward sensory and feedback predictive inputs in L5 pyramidal neurons in FXS and potentially other forms of ASD, as a result of specifically localized subcellular channelopathies. These results challenge the traditional view that FXS and other ASD are characterized by sensory hypersensitivity, proposing instead a hyposensitivity of sensory inputs and hypersensitivity of predictive inputs onto cortical neurons.

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27. Naheed A, Islam MS, Brooks MB, Fawzi MCS, Ashraf MN, Ahmed HU, Uddin MMJ, Koly KN, Galea JT, Akhter S, Nelson C, Hossain SW, Munir KM. Feasibility of a school-based mental health program implementation to improve the status of depression and quality of life of mothers of children with autism spectrum disorders in urban Bangladesh: MENTHOL study. Global mental health (Cambridge, England). 2022; 9: 146-56.

BACKGROUND: We assessed the feasibility of implementing psychological counseling services (PCS) for mothers of children with autism spectrum disorders (ASD) integrated within special education settings in urban Bangladesh. METHOD: In two special education schools for ASD in Dhaka City, trained female psychologists screened mothers using the Patient Health Questionnaire (PHQ-9). PCS was administered to all the mothers irrespective of a diagnosis of depression. Mothers with a PHQ-9 score >4 who met criteria for a major depressive episode (MDE) based on the DSM-IV Structured Interview Axis I Disorders (SCID-I) were also administered skill-building training through monthly home visits to support ASD care. The level of depression was assessed by the Depression Measurement Scale (DMS), and quality of life (QoL) was measured by Visual Analogue Scale (VAS) of EQ5D5L scale before and after PCS. RESULT: Among 188 mothers enrolled in the study, 81 (43%) received PCS, and 27.1% (22) had MDE. In the first month, 73 sessions were scheduled and 60 completed (85%). In the last month, 53 sessions were scheduled and 52 completed (98%). The mean DMS score decreased from 79.5 ± 23 to 60 ± 20 (p = 0.004), and DMS scores were significantly higher among mothers with MDE (97.8 ± 12.1 v. 69.9 ± 22.1; p < 0.001) compared to those without MDE (72.7 ± 22.6 v. 56.1 ± 18.1; p = 0.003). The mean VAS score improved from 70.3 ± 14.1 to 80.2 ± 13.3 (p = 0.001) between the first and the last session. Changes in DMS were negatively correlated with changes in VAS scores (β: -0.213, 95% CI 0.370 to -0.056). CONCLUSION: Within special education schools for ASD in urban Bangladesh, it was feasible to administer an integrated program of PCS for mothers of children with ASD by trained psychologists who were able to screen and intervene to reduce their level of depression and improve their quality of life.

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28. Pacione L. Telehealth-delivered caregiver training for autism: Recent innovations. Frontiers in psychiatry. 2022; 13: 916532.

Providing treatment to children with autism is a global health priority, and research demonstrates that caregivers can be trained in techniques to promote their child’s social interaction, communication, play, positive behavior and skills. These caregiver-mediated interventions have been shown to promote a number of positive outcomes in children with autism, as well as their caregivers. When provided by telehealth, data indicate that caregiver training is acceptable and feasible, and associated with similar positive outcomes as live face-to-face training. Telehealth innovations, which have accelerated during the COVID-19 era, have demonstrated advantages over in-person delivery of services in terms of cost effectiveness and increased accessibility, however, more research is needed on feasibility, acceptability and effectiveness for different populations in different contexts. This brief review will highlight recent caregiver skills training interventions for autism that have been successfully adapted or designed for telehealth delivery. Telehealth interventions that are scalable, adaptable, caregiver-mediated, open-access, and delivered as part of a stepped care model, have the potential to address the global treatment gap for families of children with autism and other neurodevelopmental disabilities. Considerations relevant to the global scale-up of caregiver-mediated interventions will also be discussed.

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29. Paliliunas D, Belisle J, Barron BF, Dixon MR. Transformation of Hierarchical Multiply Controlled Verbal Relations in Children With Autism in a Game of I Spy. Behavior analysis in practice. 2022; 15(4): 1383-9.

We evaluated the development of mutually entailed arbitrary hierarchical relations and associated transformations of stimulus function across 3 children with autism in a game of I Spy. Top-down hierarchical relational training was efficacious in establishing 4 relational categories (A) containing a total of 5 stimuli (B), where 3 of the stimuli were contained in 2 different categories. Following relational training, all participants demonstrated a transformation of function by identifying the stimuli when provided a multiple verbal stimulus with two category names during I Spy. The procedures were adapted from the PEAK Relational Training System.

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30. Palumbo JM, Thomas BF, Budimirovic D, Siegel S, Tassone F, Hagerman R, Faulk C, O’Quinn S, Sebree T. Role of the endocannabinoid system in fragile X syndrome: potential mechanisms for benefit from cannabidiol treatment. Journal of neurodevelopmental disorders. 2023; 15(1): 1.

Multiple lines of evidence suggest a central role for the endocannabinoid system (ECS) in the neuronal development and cognitive function and in the pathogenesis of fragile X syndrome (FXS). This review describes the ECS, its role in the central nervous system, how it is dysregulated in FXS, and the potential role of cannabidiol as a treatment for FXS. FXS is caused by deficiency or absence of the fragile X messenger ribonucleoprotein 1 (FMR1) protein, FMRP, typically due to the presence of >200 cytosine, guanine, guanine sequence repeats leading to methylation of the FMR1 gene promoter. The absence of FMRP, following FMR1 gene-silencing, disrupts ECS signaling, which has been implicated in FXS pathogenesis. The ECS facilitates synaptic homeostasis and plasticity through the cannabinoid receptor 1, CB(1), on presynaptic terminals, resulting in feedback inhibition of neuronal signaling. ECS-mediated feedback inhibition and synaptic plasticity are thought to be disrupted in FXS, leading to overstimulation, desensitization, and internalization of presynaptic CB(1) receptors. Cannabidiol may help restore synaptic homeostasis by acting as a negative allosteric modulator of CB(1), thereby attenuating the receptor overstimulation, desensitization, and internalization. Moreover, cannabidiol affects DNA methylation, serotonin 5HT(1A) signal transduction, gamma-aminobutyric acid receptor signaling, and dopamine D(2) and D(3) receptor signaling, which may contribute to beneficial effects in patients with FXS. Consistent with these proposed mechanisms of action of cannabidiol in FXS, in the CONNECT-FX trial the transdermal cannabidiol gel, ZYN002, was associated with improvements in measures of social avoidance, irritability, and social interaction, particularly in patients who are most affected, showing ≥90% methylation of the FMR1 gene.

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31. Park SK, Lee SM. What factors are associated with posttraumatic growth among mothers of children with developmental disabilities in South Korea?. Research in developmental disabilities. 2023; 134: 104414.

BACKGROUND: The identification of PTG and its correlates in the aftermath of a traumatic event would assist professionals in recognizing and amplifying individual’s potential strengths. However, there are few studies on PTG and its correlates in mothers who have birthed or raised children with developmental disabilities in South Korea. AIM: This study examined the predictive role of caregiving strain and social support on the subdimensions of PTG among South Korean mothers of children with developmental disabilities. METHODS AND PROCEDURES: The participants were 344 mothers of children with intellectual disabilities or autism. PTG was divided into four sub-dimensions (change in self-perception, increase in interpersonal depth, finding new possibilities, and increase in spiritual interest), and the predictive roles of caregiving strain and social support on each sub-dimension were identified using hierarchical multiple regression. OUTCOMES AND RESULTS: Subjective caregiving strain; family support services; and support from family, friends, or significant others were significantly related to the subdimensions of PTG. Interestingly, support from significant others was positively associated with PTG. CONCLUSIONS AND IMPLICATIONS: Social support was more likely to influence all subdimensions of PTG, except for changes in self-perception while only subject caregiving strain was associated with PTG. Thus, policymakers and practitioners should prioritize expanding family support services and strengthening various informal supportive resources for mothers with higher PTG.

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32. Perez Liz G, Vela G, Vela A, Maldonado Coronado JR, Sanchez Lizardi P, Robins DL. Autism research capacity building in Northern Mexico: Preliminary evaluation of an ongoing process. Autism : the international journal of research and practice. 2023: 13623613221145787.

To inform improvement of care and public policy, quality research is required. Conducting research projects requires skills and infrastructure. Research capacity building is the process by which individuals and organizations develop greater ability to conduct useful research. However, in the scientific community, research quality and productivity measures are often focused on long-term products, such as publications or grants awarded. Those measures are not helpful when measuring initial stages of research, a common situation in low- and middle-income countries. We used a six-principle framework designed by J. Cooke to assess the progress of an autism research collaborative in northern Mexico. We established 64 criteria across the six principles, and rated them as Not Started, In Progress, or Achieved, based on narratives and process documentation collected for this purpose. Ratings were established for the Years 2018, 2020, and 2022. The principles with the highest Achieved rates were « Linkages, collaborations, and partnerships » (90%), and « Infrastructure » (Principle 6, 70%). Cooke’s research capacity building framework is a useful way to monitor progress of research capacity building and contribute to harmonious development of relevant principles at different levels.

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33. Pérez-Cano L, Azidane Chenlo S, Sabido-Vera R, Sirci F, Durham L, Guney E. Translating Precision Medicine for Autism Spectrum Disorder: A Pressing Need. Drug discovery today. 2023: 103486.

Autism spectrum disorder (ASD) is a heterogenous group of neurodevelopmental disorders (NDDs) with a high unmet medical need. Currently, ASD is diagnosed according to behavior-based criteria that overlook clinical and genomic heterogeneity, thus repeatedly resulting in failed clinical trials. Here, we summarize the scientific evidence pointing to the pressing need to create a precision medicine framework for ASD and other NDDs. We discuss the role of omics and systems biology to characterize more homogeneous disease subtypes with different underlying pathophysiological mechanisms and to determine corresponding tailored treatments. Finally, we provide recent initiatives towards tackling the complexity in NDDs for precision medicine and cost-effective drug discovery. Teaser: High genetic and clinical heterogeneity has rendered existing drug discovery efforts inefficient for patients with neurodevelopmental disorders, highlighting the need for omics- and endophenotyping-based approaches in patient diagnosis and treatment.

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34. Pezzimenti F, Durrani E, Zheng S, Adams RE, Bishop SL, Taylor JL. Perspectives on Employer-Initiated Terminations Among Young Adults on the Autism Spectrum. Journal of autism and developmental disorders. 2023.

Job instability is high among autistic adults, with employer-initiated terminations a common reason for job loss. The current study used qualitative methods to code reasons that autistic adults identified for their employer-initiated termination. From 315 autistic individuals ages 18-35 who completed an online survey, 93 (29.5%) reported having been terminated from a job. These individuals were asked about the reasons for their termination and responses were coded into thematic categories. Common reasons included work performance, social difficulties, attendance, and mental health challenges. Adults were more likely to attribute terminations to internal causes (related to the individual) than to external causes (environment-related). A good fit between workplace, individual preferences, skills, and abilities is likely key to promoting job continuity for autistic adults.

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35. Pieslinger JF, Wiskerke J, Igelström K. Contributions of face processing, social anhedonia and mentalizing to the expression of social autistic-like traits. Frontiers in behavioral neuroscience. 2022; 16: 1046097.

INTRODUCTION: Quantitative autistic-like traits (QATs) are a constellation of traits that mirror those of clinical autism and are thought to share the same mechanisms as the condition. There is great interest in identifying the genetic and neurobiological basis of QATs, but progress is hindered by the composite nature of these clinically based constructs. Social QATs are defined according to the diagnostic criteria for autism, comprising multiple potential neural mechanisms that may contribute to varying degrees. The objective of this study was to decompose social QATs into more specific constructs, in line with the Research Domain Criteria (RDoC). We chose constructs with trait-like properties and known or suggested significance for autistic social function: (1) social anhedonia, (2) prosopagnosia (face blindness), and (3) mentalizing (attributing mental states to images of eyes). We hypothesized that these constructs may all contribute to observed variance in social QATs. METHODS: We recruited 148 adults with a broad range of QATs (mean age 37.9 years, range 18-69; 50% female; 5.4% autistic) to an experimental behavioral study conducted online. We estimated social QATs using the social factor of the Comprehensive Autistic Traits Inventory. We used the Oxford Face Matching Task and the Reading the Mind in the Eyes Test to measure face matching ability and mentalizing, respectively. Social anhedonia traits were measured with the Anticipatory and Consummatory Interpersonal Pleasure Scale, and prosopagnosic traits with the 20-item Prosopagnosia Index. A combination of frequentist and Bayesian statistics was used to test the social constructs as predictors of social QATs. RESULTS: We found that social anhedonic traits, prosopagnosic traits, and face matching performance were likely predictors of social QATs, whereas mentalizing showed limited contribution. CONCLUSION: The findings support prosopagnosic and anhedonic traits, but not mentalizing deficits, as dimensional predictors of individual differences in social function across the autistic spectrum. Further, the study strongly suggests that social reward systems and face processing networks play significant and independent roles in autistic-like social function.

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36. Rahman MM, Carter SA, Lin JC, Chow T, Yu X, Martinez MP, Chen Z, Chen JC, Rud D, Lewinger JP, van Donkelaar A, Martin RV, Eckel SP, Schwartz J, Lurmann F, Kleeman MJ, McConnell R, Xiang AH. Associations of Autism Spectrum Disorder with PM(2.5) Components: A Comparative Study Using Two Different Exposure Models. Environmental science & technology. 2023; 57(1): 405-14.

This retrospective cohort study examined associations of autism spectrum disorder (ASD) with prenatal exposure to major fine particulate matter (PM(2.5)) components estimated using two independent exposure models. The cohort included 318 750 mother-child pairs with singleton deliveries in Kaiser Permanente Southern California hospitals from 2001 to 2014 and followed until age five. ASD cases during follow-up (N = 4559) were identified by ICD codes. Prenatal exposures to PM(2.5), elemental (EC) and black carbon (BC), organic matter (OM), nitrate (NO(3)(-)), and sulfate (SO(4)(2-)) were constructed using (i) a source-oriented chemical transport model and (ii) a hybrid model. Exposures were assigned to each maternal address during the entire pregnancy, first, second, and third trimester. In single-pollutant models, ASD was associated with pregnancy-average PM(2.5), EC/BC, OM, and SO(4)(2-) exposures from both exposure models, after adjustment for covariates. The direction of effect estimates was consistent for EC/BC and OM and least consistent for NO(3)(-). EC/BC, OM, and SO(4)(2-) were generally robust to adjustment for other components and for PM(2.5). EC/BC and OM effect estimates were generally larger and more consistent in the first and second trimester and SO(4)(2-) in the third trimester. Future PM(2.5) composition health effect studies might consider using multiple exposure models and a weight of evidence approach when interpreting effect estimates.

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37. Rahman MM, Carter SA, Lin JC, Chow T, Yu X, Martinez MP, Levitt P, Chen Z, Chen JC, Rud D, Lewinger JP, Eckel SP, Schwartz J, Lurmann FW, Kleeman MJ, McConnell R, Xiang AH. Prenatal exposure to tailpipe and non-tailpipe tracers of particulate matter pollution and autism spectrum disorders. Environment international. 2023; 171: 107736.

BACKGROUND: Traffic-related air pollution exposure is associated with increased risk of autism spectrum disorder (ASD). It is unknown whether carbonaceous material from vehicular tailpipe emissions or redox-active non-tailpipe metals, eg. from tire and brake wear, are responsible. We assessed ASD associations with fine particulate matter (PM(2.5)) tracers of tailpipe (elemental carbon [EC] and organic carbon [OC]) and non-tailpipe (copper [Cu]; iron [Fe] and manganese [Mn]) sources during pregnancy in a large cohort. METHODS: This retrospective cohort study included 318,750 children born in Kaiser Permanente Southern California (KPSC) hospitals during 2001-2014, followed until age 5. ASD cases were identified by ICD codes. Monthly estimates of PM(2.5) and PM(2.5) constituents EC, OC, Cu, Fe, and Mn with 4 km spatial resolution were obtained from a source-oriented chemical transport model. These exposures and NO(2) were assigned to each maternal address during pregnancy, and associations with ASD were assessed using Cox regression models adjusted for covariates. PM constituent effect estimates were adjusted for PM(2.5) and NO(2) to assess independent effects. To distinguish ASD risk associated with non-tailpipe from tailpipe sources, the associations with Cu, Fe, and Mn were adjusted for EC and OC, and vice versa. RESULTS: There were 4559 children diagnosed with ASD. In single-pollutant models, increased ASD risk was associated with gestational exposures to tracers of both tailpipe and non-tailpipe emissions. The ASD hazard ratios (HRs) per inter-quartile increment of exposure) for EC, OC, Cu, Fe, and Mn were 1.11 (95% CI: 1.06-1.16), 1.09 (95% CI: 1.04-1.15), 1.09 (95% CI: 1.04-1.13), 1.14 (95% CI: 1.09-1.20), and 1.17 (95% CI: 1.12-1.22), respectively. Estimated effects of Cu, Fe, and Mn (reflecting non-tailpipe sources) were largely unchanged in two-pollutant models adjusting for PM(2.5), NO(2), EC or OC. In contrast, ASD associations with EC and OC were markedly attenuated by adjustment for non-tailpipe sources. CONCLUSION: Results suggest that non-tailpipe emissions may contribute to ASD. Implications are that reducing tailpipe emissions, especially from vehicles with internal combustion engines, may not eliminate ASD associations with traffic-related air pollution.

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38. Rimmer C, Philibert-Lignières G, Iarocci G, Quintin EM. The Contribution of Perceptual Reasoning Skills to Phonological Awareness for School Age Autistic Children. Journal of autism and developmental disorders. 2023.

This study aimed to investigate the phonological awareness (PA) skills of school age autistic children (age range = 6-12) in two parts: (1) comparing their performance on a PA task to non-autistic children with groups matched on chronological age, verbal and non-verbal cognitive skills, and (2) exploring the role of cognitive skills and autism characteristics on PA skills. Results revealed that the groups did not differ in their PA skills (study 1) and that perceptual reasoning skills are associated with the PA skills of autistic participants (study 2). Results highlight the role of non-verbal cognitive skills in literacy development for autistic children and suggest that their perceptual reasoning abilities likely contribute a great deal when learning to read.

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39. Roux AM, Shea LL, Steinberg H, Rast JE, Anderson KA, Hotez E, Rosenau K, Kuo A, Assing-Murray E, Shattuck PT. Evidence from the Autism Transitions Research Project (2017-2022): Capstone review and services research recommendations. Autism research : official journal of the International Society for Autism Research. 2023.

Few funding sources have explicitly supported systems-wide research to identify mechanisms for improving access, service delivery, outcomes and wellbeing for autistic transition-age youth and young adults. We aimed to integrate findings from research produced through a five-year federal Autism Transition Research Project (ATRP) cooperative agreement. This capstone review sought to: (1) map the body of scientific evidence that emerged from this federal award, and (2) identify remaining evidence gaps to inform future autism transition services research. We used scoping review methods to assess 31 ATRP-funded published scientific studies. We charted study characteristics, topical domains, socio-ecological levels of variables, focus on equity, and inclusion of autistic participants. We evaluated how these topics were addressed across studies to identify continued gaps in the evidence base. Compared to prior published reviews and research agendas, we found improvements in characterization of study participants, broader examination of socio-ecological correlates, and examination of multiple outcome domains. However, we also identified continued deficits in inclusion of autistic study participants, use of multisectoral data, and research with a strong focus on equity. Our recommended priorities for autism transition services research to facilitate healthy life outcomes and wellbeing included: continued analysis of population-level data and improved data infrastructure; development of service delivery methods and interventions that target marginalized groups; expanded research to inform improvements in the performance and coordination of complex service ecosystems that interface with autistic youth; and bolstering the roles of autistic research participants.

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40. Santhanam SP. An Interactive and Neurodiversity-Affirming Approach to Communication Supports for Autistic Students Through Videogaming. Language, speech, and hearing services in schools. 2023: 1-20.

PURPOSE: Videogaming offers an interactive, enjoyable, and socially valid context for interaction between autistic and non-autistic students in schools. In this tutorial, I describe an approach that supports communication and peer interaction through group-based videogaming. This approach creates an opportunity for autistic and non-autistic students to engage in a meaningful and enjoyable activity and to promote acceptance and appreciation of communication differences. METHOD: This tutorial includes development, planning, essential components, goal writing, and a list of resources and directions to implement the videogaming-based group intervention in middle and high school settings. This tutorial is grounded in a supports-based, anti-ableist, neurodiversity framework that embraces a difference-based view of autistic communication. Cost-effectiveness and ease of implementation make this intervention feasible for school settings. CONCLUSIONS: Ableist practices are pervasive in academic and clinical settings. There is an urgency within the field of speech-language pathology to address misconceptions regarding autism and autistic individuals, increase the understanding and appreciation of diversity in autistic communication, and eliminate practices that may promote autistic masking. These can be achieved by developing supports that value the preferences and experiences of autistic individuals and honor their strengths. Videogaming is one context that supports social communication. It does not hinge upon normative communication as a benchmark. Increased contact and exposure to autistic peers through fun and engaging game-based interactions help reduce stigma and prejudice toward autistic students.

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41. Smith IN, Dawson JE, Eng C. Comparative Protein Structural Network Analysis Reveals C-Terminal Tail Phosphorylation Structural Communication Fingerprint in PTEN-Associated Mutations in Autism and Cancer. The journal of physical chemistry B. 2023.

PTEN (phosphatase and tensin homolog deleted on chromosome 10) is a tightly regulated dual-specificity phosphatase and key regulator of the PI3K/AKT/mTOR signaling pathway. PTEN phosphorylation at its carboxy-terminal tail (CTT) serine/threonine cluster negatively regulates its tumor suppressor function by inducing a stable, closed, and inactive conformation. Germline PTEN mutations predispose individuals to PTEN hamartoma tumor syndrome (PHTS), a rare inherited cancer syndrome and, intriguingly, one of the most common causes of autism spectrum disorder (ASD). However, the mechanistic details that govern phosphorylated CTT catalytic conformational dynamics in the context of PHTS-associated mutations are unknown. Here, we utilized a comparative protein structure network (PSN)-based approach to investigate PTEN CTT phosphorylation-induced conformational dynamics specific to PTEN-ASD compared to PTEN-cancer phenotypes. Results from our study show differences in structural flexibility, inter-residue contacts, and allosteric communication patterns mediated by CTT phosphorylation, differentiating PTEN-ASD and PTEN-cancer phenotypes. Further, we identified perturbations among global metapaths and community network connections within the active site and inter-domain regions, indicating the significance of these regions in transmitting information across the PSN. Together, our studies provide a mechanistic underpinning of allosteric regulation through the coupled interplay of CTT phosphorylation conformational dynamics in PTEN-ASD and PTEN-cancer mutations. Importantly, the detailed atomistic interactions and structural consequences of PTEN variants reveal potential allosteric druggable target sites as a viable and currently unexplored treatment approach for individuals with different PHTS-associated mutations.

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42. Spinazzi NA, Velasco AB, Wodecki DJ, Patel L. Autism Spectrum Disorder in Down Syndrome: Experiences from Caregivers. Journal of autism and developmental disorders. 2023.

This study aimed to learn about the experiences of families of individuals with a dual diagnosis of Down syndrome (DS) and autism spectrum disorder (ASD) (DS-ASD), and to document the journey from early concerns to diagnosis and intervention. Caregivers completed an online survey describing their journey raising a child with DS-ASD. Survey responses were analyzed qualitatively and coded into categories to highlight common themes. Stereotypy, severe communication impairments, and behavioral difficulties prompted caregivers to pursue further evaluation. There was a mean 4.65-year gap between first noticing symptoms and receiving an ASD diagnosis. Several therapeutic interventions were identified as beneficial, including behavioral and communication support. Caregivers expressed frustration and described high levels of stress and social isolation. The diagnosis of ASD in children with DS is often delayed, and caregivers’ initial concerns are frequently dismissed. Raising a child with DS-ASD can lead to social isolation and elevated caregiver stress. More research is needed to tailor diagnostic algorithms and therapeutic interventions to the unique needs of this patient population. Caregivers yearn for improved understanding of DS-ASD, more targeted therapies and educational programs, and more overall support.

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43. Toscano CVA, Ferreira JP, Quinaud RT, Silva KMN, Carvalho HM, Gaspar JM. Exercise improves the social and behavioral skills of children and adolescent with autism spectrum disorders. Frontiers in psychiatry. 2022; 13: 1027799.

BACKGROUND: Currently, there is no standard treatment for Autism Spectrum Disorders (ASD), but there are many ways to minimize the symptoms and maximize abilities. Some studies suggest that exercise and other physical activities with children with ASD may be beneficial. In this study, we hypothesized that a physical exercise program (48-week exercise-intervention) could improve symptomatology dyad among children and adolescents with ASD. Our main aim was to examine the effects of physical activity on the primary clinical symptoms and associated comorbidities in children and adolescents with ASD. METHODS: We allocated 229 children with ASD, ranging in age from 2.3-17.3 years (M = 7.8, SD = 3.2), into three groups: (a) exercise- intervention group, (b) control group from the same institution, and (c) control group from another institution. The exercise program was performed at moderate intensity in a 30 min section twice a week for 48 weeks. We used Bayesian multilevel regression modeling to examine participant outcomes and responses to the exercise-intervention. RESULTS: Our results showed that a 48-week exercise-intervention substantially decreased ASD social interaction problems, attention deficit, emotional reactivity, stereotypical verbal and motor behavior, and sleep disturbances. However, physical exercise did not affect eye contact and food selectivity. We also observed that ASD severity and socioeconomic status influence eye contact, attention deficit, and sleep disturbance responses. CONCLUSION: In conclusion, children and adolescents with ASD exposed to a 48-week physical exercise-intervention program had important improvements in ASD symptoms. This study highlights that structured exercise programs can be a powerful complementary therapy for the ASD population.

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44. Tsermentseli S. Self-esteem moderates the impact of perceived social support on the life satisfaction of adults with autism spectrum disorder. Autism & developmental language impairments. 2022; 7: 23969415221147430.

BACKGROUND AND AIMS: Although social resources and self-esteem are well-known predictors of subjective well-being in the general population, the relations among these factors have not yet been investigated in autism spectrum disorder (ASD). The present preliminary study sought to compare the levels of life satisfaction, self-esteem and perceived social support between adults with ASD and typically developing volunteers (TYP). It also examined whether self-esteem would moderate the effect of perceived social support on life satisfaction in adults with ASD. METHODS: Fifty-seven adults with ASD without intellectual disability and 60 age-matched TYP in the United Kingdom (UK) completed self-reported measures of perceived social support, global self-esteem, and life satisfaction. RESULTS: Results indicated that adults with ASD reported significantly lower levels of life satisfaction and self-esteem (but not social support) than TYP. Hierarchical regressions revealed that both social support and self-esteem were significant predictors of life satisfaction in adults with ASD. Self-esteem buffered the effect of perceived social support on life satisfaction. CONCLUSIONS: This study corroborated a growing body of evidence that suggests that adults with ASD report lower levels of self-esteem and life satisfaction than TYP. In addition, it reported for the first time that global self-esteem influences the association between social support and life satisfaction in adults with ASD. IMPLICATIONS: The present findings suggest that interventions aimed at enhancing self-esteem and cultivating social relationships could be important areas for intervention to improve the well-being of adults with ASD.

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45. van Andel DM, Sprengers JJ, Königs M, de Jonge MV, Bruining H. Effects of Bumetanide on Neurocognitive Functioning in Children with Autism Spectrum Disorder: Secondary Analysis of a Randomized Placebo-Controlled Trial. Journal of autism and developmental disorders. 2023.

We present the secondary-analysis of neurocognitive tests in the ‘Bumetanide in Autism Medication and Biomarker’ (BAMBI;EUDRA-CT-2014-001560-35) study, a randomized double-blind placebo-controlled (1:1) trial testing 3-months bumetanide treatment (≤ 1 mg twice-daily) in unmedicated children 7-15 years with ASD. Children with IQ ≥ 70 were analyzed for baseline deficits and treatment-effects on the intention-to-treat-population with generalized-linear-models, principal component analysis and network analysis. Ninety-two children were allocated to treatment and 83 eligible for analyses. Heterogeneous neurocognitive impairments were found that were unaffected by bumetanide treatment. Network analysis showed higher modularity after treatment (mean difference:-0.165, 95%CI:-0.317 to - 0.013,p = .034) and changes in the relative importance of response inhibition in the neurocognitive network (mean difference:-0.037, 95%CI:-0.073 to - 0.001,p = .042). This study offers perspectives to include neurocognitive tests in ASD trials.

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46. van ‘t Wout F, Jarrold C. To What Extent is the Contribution of Language to Learning via Instructions Modulated by the Expression of Autism Traits?. Journal of autism and developmental disorders. 2023.

Language plays a fundamental role in enabling flexible, goal-directed behaviour. This study investigated whether the contribution of language to instruction encoding is modulated by the expression of autism traits, as measured by the Autism Spectrum Quotient (ASQ) questionnaire. Participants (N = 108) completed six choice reaction time tasks, with each task consisting of six stimulus-response mappings. During an instruction phase preceding each task, participants performed either a verbal, non-verbal or no distractor task. Participants made more errors in the verbal distractor task condition, but this detrimental effect did not differ significantly between the high (top 33%) and low (bottom 33%) ASQ groups. Hence, the contribution of language to instruction encoding does not appear to be modulated by the expression of autism traits.

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47. Varela RE, Vinet E, Kamps J, Niditch L. Pre- and Perinatal Risk Factors for Youth with Autism Spectrum Disorder Versus Youth with Other Mental Health Disorders. Journal of autism and developmental disorders. 2023.

Research has linked pre- and perinatal complications (PPCs) with increased risk for autism spectrum disorder (ASD). However, PPCs are also known risk factors for other mental health disorders. This study explored which PPCs are specific risk factors for ASD, as opposed to other forms of psychopathology, among a large sample of clinically-referred youth. Archival data were used from 1177 youth who were evaluated at a hospital-based autism clinic. Results from logistic regressions indicated that use of tobacco, alcohol, or drugs, or experiencing amniocentesis predicted inclusion in the non-ASD group, while physical difficulties with delivery predicted inclusion in the ASD group. Possible explanations and implications for these findings are discussed.

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48. Weitlauf AS, Miceli A, Vehorn A, Dada Y, Pinnock T, Harris JW, Hine J, Warren Z. Screening, Diagnosis, and Intervention for Autism: Experiences of Black and Multiracial Families Seeking Care. Journal of autism and developmental disorders. 2023.

PURPOSE: Despite advances in screening and awareness, Black and multiracial families continue to experience challenges when seeking an autism diagnosis for their children. METHODS: We surveyed 400 Black and multiracial families of young children with autism from an existing research database in the United States about their retrospective diagnostic experiences. We gathered quantitative and qualitative data and engaged in iterative coding to understand timing and content of first concerns, families’ experiences of care providers and systems, and the impact of race and culture on accessing care. RESULTS: Families provided examples of early developmental concern and described provider, systemic, and cultural barriers and facilitators to care. Families also provided insight into the influence of culture and made recommendations on how the medical system could better care for Black and multiracial families of children with autism. CONCLUSIONS: Results add to a growing body of literature supporting the need for culturally sensitive and accessible care related to developmental monitoring, diagnosis, and follow-up care for Black and multiracial children.

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49. Woodbury-Smith MR, Westphal A, Loftin R. Editorial: Training in Autism Among First Responders. Journal of autism and developmental disorders. 2023.

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50. Zakai-Mashiach M. « It is like you are in a golden cage »: How autistic students experience special education classrooms in general high schools. Research in developmental disabilities. 2023; 134: 104419.

BACKGROUND: Students with autism spectrum disorder (ASD) often grapple with the challenges and demands of a general school environment. To date, studies have focused on inclusion within that environment, not distinguishing the experience of students in ASD special education classrooms within the general school. This study examined the retrospective perceptions of high-functioning autistic high school graduates who had been in ASD special education classrooms in general high schools to understand their experience, learn about their needs, and enhance future educational experiences. METHOD: Using interpretative phenomenological analysis (IPA) as a methodological framework, semi-structured interviews were conducted with 12 autistic individuals aged 19-27 that were enrolled in those particularized classrooms during high school. Data were analyzed using Thematic Analysis. RESULTS: Three overarching themes were identified: (1) the challenge of heterogeneity among students in these classrooms; (2) exclusion and labeling; and (3) identity confusion. CONCLUSIONS: The findings of this paper highlight the need for greater attention to the voices and experiences of individuals with ASD regarding this educational model of ASD special education classrooms in general schools. Participants’ perceptions about their educational experience in ASD special education classrooms need to be addressed at all levels of inclusive policy and practice.

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51. Zarokanellou V, Gryparis A, Papatheodorou P, Tatsis G, Tafiadis D, Papadopoulos A, Voniati L, Siafaka V. Societal Attitudes Towards Autism (SATA): Validation of the Greek Version in the General Population. Journal of autism and developmental disorders. 2023.

This study examined the validity of the Greek version of the Societal Attitudes Towards Autism (SATA) scale in a Greek community sample (n = 633) and explored how the demographic variables of the sample modulate knowledge and attitudes regarding people with Autism Spectrum Disorder (ASD). The principal component analysis confirmed the three-dimension model and explained 40.5% of the variance. All Cronbach’s alpha values obtained were over 0.70. SATA’s subscales were significantly and positively correlated, indicating good internal reliability. Participants presented moderate knowledge about ASD and mediocre positive attitudes towards people with ASD. Gender, age, and educational level significantly affected SATA total scores. Overall, this Greek version of SATA showed acceptable psychometric properties, indicating that can be a reliable scale for use.

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