1. Aghakhani S, Carre N, Mostovoy K, Shafer R, Baeza-Hernandez K, Entenberg G, Testerman A, Bunge EL. Qualitative analysis of mental health conversational agents messages about autism spectrum disorder: a call for action. Front Digit Health;2023;5:1251016.

BACKGROUND: Conversational agents (CA’s) have shown promise in increasing accessibility to mental health resources. This study aimed to identify common themes of messages sent to a mental health CA (Wysa) related to ASD by general users and users that identify as having ASD. METHODS: This study utilized retrospective data. Two thematic analyses were conducted, one focusing on user messages including the keywords (e.g., ASD, autism, Asperger), and the second one with messages from users who self-identified as having ASD. RESULTS: For the sample of general users, the most frequent themes were « others having ASD, » « ASD diagnosis, » and « seeking help. » For the users that self-identified as having ASD (n = 277), the most frequent themes were « ASD diagnosis or symptoms, » « negative reaction from others, » and « positive comments. » There were 3,725 emotion words mentioned by users who self-identified as having ASD. The majority had negative valence (80.3%), and few were positive (14.8%) or ambivalent (4.9%). CONCLUSION: Users shared their experiences and emotions surrounding ASD with a mental health CA. Users asked about the ASD diagnosis, sought help, and reported negative reactions from others. CA’s have the potential to become a source of support for those interested in ASD and/or identify as having ASD.

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2. Basu S, Ro EJ, Liu Z, Kim H, Bennett A, Kang S, Suh H. The Mef2c gene dose-dependently controls hippocampal neurogenesis and the expression of autism-like behaviors. J Neurosci;2023 (Dec 20)

Mutations in the activity-dependent transcription factor MEF2C have been associated with several neuropsychiatric disorders. Among these, autism spectrum disorder (ASD)-related behavioral deficits are manifested. Multiple animal models that harbor mutations in Mef2c have provided compelling evidence that Mef2c is indeed an ASD gene. However, studies in mice with germline or global brain knockout of Mef2c are limited in their ability to identify the precise neural substrates and cell types that are required for the expression of Mef2c-mediated ASD behaviors. Given the role of hippocampal neurogenesis in cognitive and social behaviors, in this study we aimed to investigate the role of Mef2c in the structure and function of newly-generated dentate granule cells (DGCs) in the postnatal hippocampus, and to determine whether disrupted Mef2c function is responsible for manifesting ASD behaviors. Overexpression of Mef2c (Mef2c(OE) ) arrested the transition of neurogenesis at progenitor stages, as indicated by sustained expression of Sox2(+) in Mef2c(OE) DGCs. Conditional knockout of Mef2c (Mef2c(cko) ) allowed neuronal commitment of Mef2c(cko) cells; however, Mef2c(cko) impaired not only dendritic arborization and spine formation, but also synaptic transmission onto Mef2c(cko) DGCs. Moreover, the abnormal structure and function of Mef2c(cko) DGCs led to deficits in social interaction and social novelty recognition, which are key characteristics of ASD behaviors. Thus, our study revealed a dose-dependent requirement of Mef2c in the control of distinct steps of neurogenesis, as well as a critical cell-autonomous function of Mef2c in newborn DGCs in the expression of proper social behavior in both sexes.Significance Statement Autism spectrum disorder (ASD) is a neurodevelopmental disorder causing significant social, communication and behavioral deficits in children worldwide. Genetic complexity and heterogeneity associated with ASD have hindered the filed from establishing any precise cellular substrate associated with ASD. Recent studies have implicated hippocampal neurogenesis as one of the key players in social behavior and ASD-like behaviors. Here, using conditional deletion of transcriptional factor Mef2c, in hippocampal newborn neurons or abDGCs, we have demonstrated how Mef2c impacts behavior by regulating the structural development, physiology, and function of abDGCs. Our results revealed the essential role of Mef2c in neurogenesis and identified hippocampal neurogenesis as a neural substrate necessary for social behaviors.

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3. Buchenauer L, Haange SB, Bauer M, Rolle-Kampczyk UE, Wagner M, Stucke J, Elter E, Fink B, Vass M, von Bergen M, Schulz A, Zenclussen AC, Junge KM, Stangl GI, Polte T. Maternal exposure of mice to glyphosate induces depression- and anxiety-like behavior in the offspring via alterations of the gut-brain axis. Sci Total Environ;2023 (Dec 20);905:167034.

The past decade has been characterized by increased awareness and de-stigmatization of mental health issues, in particular the most common neuropsychiatric disorders depression and anxiety. Further, with growing understanding of neurodevelopmental disorders such as attention deficit and hyperactivity disorder and autism spectrum disorder, the number of diagnosed patients has increased. The pathogenesis of these behavioral disorders is multifactorial and early-life exposure to environmental chemicals has been proposed to be a relevant risk factor that might mediate these effects by disturbances on the gut-brain-axis. However, for glyphosate, the most widely used pesticide worldwide, there are only limited and inconsistent findings that link chronic low-dose exposure in particular during early life to neurobehavioral disorders. Here, we explored the impact of maternal oral glyphosate exposure (0.5 and 50 mg/kg body weight/day) during pregnancy and the lactational period on offspring’s behavior, brain gene expression and gut microbiota using a cross-generational mouse model. Behavioral analyses revealed a depression- and anxiety-like behavior as well as social deficits most notably in adult female offspring of glyphosate-exposed dams. Furthermore, the expression of tryptophan hydroxylase 2, an enzyme discussed to be linked to behavioral problems, was reduced in the hippocampus of female offspring and correlated to a glyphosate-induced DNA hypermethylation of the gene. Moreover, maternal glyphosate exposure significantly altered the gut microbiota in the female offspring including a decreased abundance of Akkermansia and increased abundance of Alistipes and Blautia, bacteria involved in tryptophan metabolism and associated with depression- and anxiety-like disorders. Our results suggest that glyphosate might influence the gut-brain axis crosstalk following in-utero and lactational exposure. This study underlines the importance of understanding the impact of exposure to pesticides on the gut-brain axis and further emphasizes the need for microbiome analyses to be compulsorily included in health risk assessments of pesticides.

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4. Clavenna A, Cartabia M, Fortino I, Bonati M. Drug prescription profile in children with autism spectrum disorders. Eur J Clin Pharmacol;2023 (Dec 20)

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5. Davis SA, Annis IE, Hughes PM, DeJong NA, Christian RB, Ruble LA, Thomas KC. Patterns of Mental Health Service Use During the Transition to Adulthood Among Autistic Adolescents and Young Adults. Autism Adulthood;2023 (Dec 1);5(4):366-373.

BACKGROUND: The time of transition into adulthood, especially when leaving school, is a time when many autistic adolescents and young adults (AYA) may stop receiving mental health services that they have relied on, leading to worse mental health outcomes. The purpose of this study was to describe patterns of mental health service use during transition to adulthood among autistic AYAs. METHODS: We performed a cross-sectional study using electronic health records from years 2015 to 2019 from one large university health care system. We included autistic individuals ages 11-27 with at least one clinical encounter annually in the cohort. Outcomes included psychotropic medications and psychotherapy received, psychotropic polypharmacy, psychiatric emergency department (ED) visits, and adverse drug events. RESULTS: Almost half of the 529 patients in the cohort received polypharmacy. The most common treatment was medication only (56.9%), followed by no treatment (22.7%), medication plus psychotherapy (18.7%), and psychotherapy only (data masked). The 17-21 age group had the highest odds of a psychiatric ED visit, whereas the 22-27 age group had the highest odds of receiving psychotropic medications and polypharmacy. Black AYA were more likely to receive psychotherapy and less likely to receive psychotropic polypharmacy than non-Hispanic Whites. CONCLUSION: Autistic individuals may benefit from more support from the health care system for their transition into adulthood to maintain use of beneficial mental health services as they leave school and to reduce the frequency of adverse outcomes. Access to providers experienced treating the complex needs of autistic individuals is important to reduce disparities. WHY IS THIS AN IMPORTANT ISSUE? Autistic adolescents and young adults often do not receive the mental health care services they need. As they transition into adulthood, they may lose important mental health services they relied on during childhood. Losing services may negatively affect their health and produce bad outcomes such as emergency department visits. Previous studies have suggested that autistic individuals often stop receiving important services as they leave school and lose access to school-based services. WHAT WAS THE PURPOSE OF THIS STUDY? The purpose was to describe patterns of mental health service use during the transition to adulthood among autistic adolescents and young adults. Underutilized services might indicate areas where the health care system needs to improve. WHAT DID THE RESEARCHERS DO? We used data from electronic health records from a large university health system in the southeastern United States. We identified autistic adolescents and young adults ages 11–27 in the data. We analyzed whether they received medication and/or psychotherapy for their mental health, and whether they had emergency department visits and adverse drug events. We also examined polypharmacy, meaning the use of multiple medications of different classes for mental health. WHAT WERE THE RESULTS OF THE STUDY? Almost half of the 529 included patients experienced polypharmacy. The majority received medication only, whereas smaller percentages received medication plus psychotherapy or psychotherapy alone. Emergency department visits were most common in the 17–21 age group, and psychotropic medications and polypharmacy were most used in the 22–27 age group. Black individuals were more likely to receive psychotherapy and less likely to receive psychotropic polypharmacy than non-Hispanic Whites. WHAT DO THESE FINDINGS ADD TO WHAT WAS ALREADY KNOWN? These findings show that providers are relying heavily on medication, often including polypharmacy, to treat mental health issues in autistic adolescents and young adults. WHAT ARE POTENTIAL WEAKNESSES OF THE STUDY? The study used only one health care system in one state and may not reflect what happens in other states with different policies. Data may include a high number of patients with complex medical conditions, which may not reflect the typical patient’s experience. Medications prescribed by providers outside this particular health system may not be captured. HOW WILL THESE FINDINGS HELP AUTISTIC ADULTS NOW OR IN THE FUTURE? These findings reveal potential areas for improvement for providers and health systems in treating autistic adults. Ensuring that autistic adolescents can continue to receive important mental health services as they age into adulthood can improve their health. eng

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6. Di Rezze B, O’Connor I, Georgiades S, Brennan R, Honeyman S, DiFazio A, Hall GB, Chan L, Steele R, Fallowfield E, Bennett T. The Development and Evaluation of a Cross-Context Employment Program for Autistic Adolescents. Autism Adulthood;2023 (Dec 1);5(4):457-467.

Vocational programs typically focus on building the skills of autistic youth. However, there is growing recognition that the supportive environment (or ecosystem) around an individual plays an important role in finding and maintaining work. Programs at the ecosystem-level can be established by coordinating support before high school ends. Cocreation of a vocational program by support providers can facilitate an integrated effort to prepare autistic youth for employment. In this study, we describe and evaluate the Job-Train Program (JTP), a vocational program for autistic high school students codesigned with educators and a community-based social services agency. A school board, community-based social services agency, and academics partnered to cocreate JTP. JTP combined skill teaching and paid supported employment on a university campus. This pilot study evaluated JTP using qualitative and quantitative data. Twelve autistic youth were recruited, aged 15-18 years (10 males, 2 females) with an average intelligence quotient of 101.9 (standard deviation = 14.4), from the Wechsler Abbreviated Scale of Intelligence-2. Youth and parents completed self-report measures (pre-post), including the primary outcome, Canadian Occupational Performance Measure (COPM). Post-JTP, interviews, focus groups, and surveys collected additional information from youth (n = 11), parents (n = 10), job coaches (n = 5), and employers (n = 8). Youth COPM scores indicated significant improvements in self-perceived ratings of skill performance (z = -2.5, p = 0.01) and satisfaction (z = -2.6, p = 0.01). Qualitative data corroborated COPM results noting youth skill improvements in self-esteem, independence, communication, and understanding work. Findings demonstrated a promising vocational training model for autistic high school students informing the development of integrated service pathways to support preparation for employment. WHY WAS THIS PROGRAM DEVELOPED? When autistic young people leave school, they can experience difficulties in getting a job. We need to test whether job training might be helpful for autistic young people when they are leaving school. Current support focuses mostly on developing educational skills, but it is important that we think about the strengths and abilities of the individual within their environment. In this study, we worked with educators from schools and a community service agency (who support autistic adults) to develop a job training support program for autistic youth. WHAT DOES THIS PROGRAM DO? We designed the 13-week Job-Train Program (JTP) to provide training and paid work experience, develop work abilities, and increase support around the autistic youth. Participants took part in weekly group sessions about work skills, and they did 8 weeks of paid work, supported by a job coach on a university campus. HOW DID RESEARCHERS EVALUATE THE PROGRAM? Twelve autistic high school students (age 15–18) took part, and eight university departments hosted work experiences. We used several approaches to see if the program was helping and to identify areas where we could improve the program in the future. Ten parents and 11 autistic youth completed the Canadian Occupational Performance Measure (COPM) before and after the program, so we could see if there were any changes in work-related skills. We also completed interviews with youth, focus groups with parents, and surveys with job coaches to gather feedback. WHAT WERE THE EARLY FINDINGS? Scores on the COPM questionnaire showed that the young people rated themselves as more skilled and they were more satisfied with their skills after the program. Parent ratings showed a similar pattern. When we spoke to youth, parents, and job coaches, they mentioned improvements in responsibility and independence. Eight employers in university departments gained awareness of autistic youth as employees and all were willing to be part of the program again. Parents suggested that having more training of advocacy skills would help youth with gaining work in the future. WHAT WERE THE WEAKNESSES OF THIS PROJECT? We did not assess how well the job coaches did in delivering the program or exactly how they made accommodations within the work experience jobs. Autistic individuals and their parents were not included in program development. WHAT ARE THE NEXT STEPS? We now plan to include autistic youth and their parents in further refining the program. We also plan to follow up with the youth who took part, to see how they are doing in the long term. We also will improve the support provided by job coaches. HOW WILL THIS WORK HELP AUTISTIC ADULTS NOW OR IN FUTURE? The JTP approach may help autistic youth as they go into employment and could provide high-quality support for the transition to adulthood. We also show that university campuses could be great places for autistic youth to gain experience, so in the future hope that universities and schools work together more to help support autistic youth. eng

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7. Goss M, Huynh CK, Taing M, Brumback AC. Approaching Autism Diagnosis and Care Through the Lens of Gender Diversity. Child Neurol Open;2023 (Jan-Dec);10:2329048×231219201.

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8. Grosvenor LP, Errichetti CL, Holingue C, Beasley JB, Kalb LG. Self-Report Measurement of Well-Being in Autistic Adults: Psychometric Properties of the PERMA Profiler. Autism Adulthood;2023 (Dec 1);5(4):401-410.

BACKGROUND: Studies of positive psychology and emotional well-being have broadened our understanding of mental health. However, mental health research involving autistic adults has been largely deficit-focused. Few studies have examined well-being using established positive psychological frameworks. METHODS: This study examined the psychometric characteristics of the PERMA Profiler, a 23-item questionnaire that measures well-being across five subscales (Positive emotion, Engagement, Relationships, Meaning, and Accomplishment), in a sample of 517 autistic adults ages 18-84 years (M = 39.5, standard deviation [SD] = 13.3). Reliability (internal consistency), structural validity (via confirmatory factor analysis including bifactor modeling), and concurrent validity were examined. RESULTS: The PERMA Profiler mean (SD) well-being score was 5.4 (SD = 1.7), which is notably lower than the mean of 7.0 previously found in nonautistic samples. Subscale scores were highest for Engagement (M = 6.8; SD = 1.9), followed by Accomplishment (M = 5.6; SD = 2.2), Relationships (M = 5.2; SD = 2.6), Meaning (M = 5.2; SD = 2.7), and Positive emotion (M = 5.0; SD = 2.4). Factor analyses revealed strong psychometrics (Cronbach’s α = 0.93; Comparative Fit Index = 0.94; Tucker-Lewis Index = 0.97; root mean square error of approximation = 0.08; standardized root mean residual = 0.05) and superior fit of the bifactor model, supporting a general factor for conceptualizing well-being as opposed to a five-factor model. PERMA well-being and subscale scores were significantly correlated (p < 0.001) with mental health conditions and life satisfaction. CONCLUSION: These findings support use of an adapted version of the PERMA Profiler in mental health research to evaluate well-being among autistic adults. Similar to studies with nonautistic populations, the Engagement measure may not capture the experiences of the autistic population and further refinement is needed. Follow-up research should represent a more diverse autistic population, collaborate with autistic coinvestigators, and explore potential correlates of well-being (such as social stigma) while using the PERMA Profiler. WHY IS THIS AN IMPORTANT ISSUE? “Well-being” captures a state of comfort, health, and happiness and is more than just the absence of disease or negative feelings. Only a few studies to date have focused on the emotional well-being of autistic adults. The positive psychology-based PERMA Profiler (named after the five subscales: Positive emotions, Engagement, Relationships, Meaning, and Accomplishment) is a brief self-report measure for rating well-being using 23 questions. It has been widely used for studying well-being in nonautistic populations. However, no studies have tested how well the PERMA Profiler measures well-being among autistic adults. WHAT WAS THE PURPOSE OF THIS STUDY? The goal was to evaluate the PERMA Profiler using data from a group of autistic adults living in the United States. This was the first study that tested how well the PERMA Profiler measures the well-being of autistic adults, both overall and across the five subscales. WHAT DID THE RESEARCHERS DO? First, we collected responses to the PERMA Profiler and other questions from more than 500 autistic adults. Then, we tested whether the PERMA Profiler measures well-being consistently and if the measure performs as expected (i.e., did it measure what it is supposed to measure?). We also compared well-being scores with the mental health (anxiety and depression) and life satisfaction of the study participants. WHAT WERE THE RESULTS OF THE STUDY? The average overall well-being score was 5.4 out of 10, with higher values indicating experiencing well-being more often. Notably, the average well-being score was 7.0 in unrelated, previous studies of nonautistic adults). The PERMA Profiler measured well-being consistently in our sample. The overall well-being scores and each of the five subscale scores were related to mental health and life satisfaction as expected. The “Engagement” subscale did not perform as well as the others in our sample, which was consistent with the findings of studies with nonautistic adults. WHAT DO THESE FINDINGS ADD TO WHAT WAS ALREADY KNOWN? This is the first study to evaluate the effectiveness of the PERMA Profile or any measure of self-reported well-being in a sample of autistic adults. These results can help future researchers determine how best to study well-being, specifically in autistic adults. These findings point to important changes that might be made to the PERMA Profiler before it is used in future research. WHAT ARE POTENTIAL WEAKNESSES IN THE STUDY? Autistic adults were not involved in the development of the PERMA Profiler. Therefore, the measure may need to be changed by teams involving autistic coinvestigators before use with other samples. Second, our findings may not represent larger, more diverse groups of autistic adults because most participants were White (85%), well-educated (more than 80% completed at least some college), and did not have intellectual disability. Lastly, the study was conducted during the COVID-19 pandemic, which likely impacted the well-being of participants. HOW WILL THESE FINDINGS HELP AUTISTIC ADULTS NOW OR IN THE FUTURE? Our study provides preliminary support for the PERMA Profiler and suggests next steps for improving it and other measures of well-being before expanding use with autistic adults. Our findings may help the field of autism research develop new measures for understanding and improving well-being. The strengths and weaknesses of the PERMA Profiler that we identified can inform future strengths-based research involving autistic adults. eng

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9. Hessl D, Mandujano Rojas K, Ferrer E, Espinal G, Famula J, Schneider A, Hagerman R, Tassone F, Rivera SM. FMR1 Carriers Report Executive Function Changes Prior to Fragile X-Associated Tremor/Ataxia Syndrome: A Longitudinal Study. Mov Disord;2023 (Dec 20)

BACKGROUND: Men with fragile X-associated tremor/ataxia syndrome (FXTAS) often develop executive dysfunction, characterized by disinhibition, frontal dyscontrol of movement, and working memory and attention changes. Although cross-sectional studies have suggested that earlier executive function changes may precede FXTAS, the lack of longitudinal studies has made it difficult to address this hypothesis. OBJECTIVE: To determine whether executive function deterioration experienced by premutation carriers (PC) in daily life precedes and predicts FXTAS. METHODS: This study included 66 FMR1 PC ranging from 40 to 78 years (mean, 59.5) and 31 well-matched healthy controls (HC) ages 40 to 75 (mean, 57.7) at baseline. Eighty-four participants returned for 2 to 5 follow up visits over a duration of 1 to 9 years (mean, 4.6); 28 of the PC developed FXTAS. The Behavior Rating Inventory of Executive Function-Adult Version (BRIEF-A) was completed by participants and their spouses/partners at each visit. RESULTS: Longitudinal mixed model regression analyses showed a greater decline with age in PC compared to HC on the Metacognition Index (MI; self-initiation, working memory, organization, task monitoring). Conversion to FXTAS was associated with worsening MI and Behavioral Regulation Index (BRI; inhibition, flexibility, emotion modulation). For spouse/partner report, FXTAS conversion was associated with worsening MI. Finally, increased self-report executive function problems at baseline significantly predicted later development of FXTAS. CONCLUSIONS: Executive function changes experienced by male PC represent a prodrome of the later movement disorder. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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10. Hofmann N, Harms M, Mäder K. ASDs of PROTACs: Spray-dried solid dispersions as enabling formulations. Int J Pharm;2024 (Jan 25);650:123725.

Proteolysis targeting chimeras (PROTACs) are a promising class of pharmaceutical agents with a unique mode of action. PROTACs enable the targeting of a broad variety of structures including transcription factors and other « undruggable » targets. The poor solubility and slow dissolution of PROTACs currently limit the extensive use of their potential. Up to date, only very limited drug delivery options have been examined to address this challenge. Therefore, we explored the potential of amorphous solid dispersions (ASDs) by spray drying a model PROTAC with different polymers. The resulting formulations were assessed in terms of purity, solid state, dissolution performance, and stability. A strong increase in supersaturation compared to the physical mixture was provided, although in both systems the PROTAC molecule itself was already in the amorphous state. Evaluation of the reasons for the superiority of the ASD formulations revealed that the major factor was the homogeneous, molecular distribution of the active pharmaceutical ingredient (API) in the polymer matrix, as well as improved wettability of the formulation containing Soluplus compared to the physical mixture. The manufactured formulations were stable over a minimum of 8 weeks when protected from light and humidity.

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11. Huang Y, Trollor JN, Foley KR, Arnold SRC. « I’ve Spent My Whole Life Striving to Be Normal »: Internalized Stigma and Perceived Impact of Diagnosis in Autistic Adults. Autism Adulthood;2023 (Dec 1);5(4):423-436.

BACKGROUND: Receiving an autism diagnosis in adulthood often leads to improved self-understanding and deeper self-reflection, which can have major impacts on people’s well-being and sense of identity. However, autism diagnosis also exposes individuals to societal stigma, which may become internalized over time. This study aimed to explore relationships between psychological and service-related impacts of diagnosis and internalized stigma using mixed methods. METHODS: One hundred forty-three autistic adults completed an online survey involving impact of diagnosis domains of Self-Understanding, Well-being, Clinician Support, and Service Access, internalized stigma, and open-ended questions on beliefs about autism diagnosis. RESULTS: On average, participants reported mild levels of internalized stigma and positive impact of diagnosis in all domains except Service Access. Older age at diagnosis was positively associated with Clinician Support only. The path analysis model showed positive relationships between impact of diagnosis domains, with Self-Understanding having a positive effect on Well-being via lowered internalized stigma. We developed four themes of Continuity and Acceptance, Late Diagnosis as Regret and Freedom, Coming to Terms with Being Autistic, and Stigma Resistance from qualitative data. CONCLUSIONS: Self-understanding protects against the development of internalized autism stigma. Diagnosticians and service providers play an important role in improving self-understanding and well-being in autistic adults. More research is needed to understand the role of age at diagnosis and mechanisms behind positive identity development after autism diagnosis. WHY IS THIS AN IMPORTANT ISSUE? Receiving an autism diagnosis in adulthood can help people understand themselves better. This can help them feel better too. Autistic adults’ experiences during diagnosis and their experience with support services after diagnosis might also affect how they think and feel about themselves. There are many negative beliefs about autism in society. Some autistic people might think more negatively about themselves because of these beliefs. WHAT WAS THE PURPOSE OF THIS STUDY? This study tries to understand relationships between the impact of autism diagnosis and negative beliefs about autism in autistic adults. We also wanted to know if age at diagnosis is related to these factors. WHAT DID THE RESEARCHER DO? One hundred forty-five autistic adults filled in an online survey. We asked questions about the impact of autism diagnosis on four aspects: how they understand themselves, their well-being, experiences with the professional who gave the diagnosis, and support services after diagnosis. We also asked questions about autistic adults’ negative beliefs about autism. We used the answers to these questions to test a model of how we think these factors might affect each other: good experiences with the professional who gave the diagnosis help with self-understanding and getting support services. Better self-understanding helps autistic adults think less negatively about autism. Better self-understanding, less negative thinking about autism, and better support services all help improve well-being after diagnosis.We asked autistic adults some general questions about the effect of autism diagnosis on their lives. We asked autistic adults whether they think being diagnosed at an older or younger age made a difference. We also asked autistic adults about negative beliefs that some autistic people might have about their autism. We then read these answers and made a list of the important and common ideas in people’s answers. WHAT WERE THE RESULTS OF THE STUDY? In general, autism diagnosis improved autistic adults’ self-understanding and well-being. Most autistic adults had good experiences with the diagnosing professional but did not have good support services after diagnosis. On average, autistic adults had a small amount of negative beliefs about autism. People diagnosed at older ages had better support from the health professional who diagnosed them. We did not find any other differences between people diagnosed at different ages. We successfully tested our model of relationships between self-understanding, well-being, experiences with the diagnosing professional, experience of support services, and negative beliefs about autism.Autistic adults said getting the diagnosis did not change who they are. It helped them understand and accept themselves. Some late-diagnosed autistic adults wished they were diagnosed earlier. Others said being diagnosed younger might make you think less of yourself because there was less autism acceptance in society at that time. Both early-diagnosed and late-diagnosed autistic adults said growing older helped them understand what it means to be autistic. Autistic adults also talked about autistic and non-autistic people’s negative beliefs about autism. Some autistic adults said that negative beliefs are caused by society not being accepting enough, not because autism itself is bad. This thinking helps autistic adults think more positively about autism. WHAT DO THESE FINDINGS ADD TO WHAT WAS ALREADY KNOWN? This is the first study to measure and develop a model of the relationships between impacts of diagnosis and negative beliefs about autism in autistic adults. WHAT ARE POTENTIAL WEAKNESSES IN THIS STUDY? Most people who did our survey were diagnosed as teens and adults. It was hard to measure the effects of age at autism diagnosis because we did not have enough participants diagnosed at young ages. The people who did our survey were mostly female, White, spoke English only, and did not have intellectual disability. This means that the people in our study are not a good representation of all autistic adults in Australia. The questions we used to measure negative beliefs about autism were originally made for people with mental illness. There might be negative beliefs specific to autism that we did not measure. HOW WILL THESE FINDINGS HELP AUTISTIC ADULTS NOW OR IN THE FUTURE? Our findings tell professionals who diagnose or support autistic adults that it is important to help autistic adults understand what it means to be autistic in a positive way. This will help autistic adults form more positive beliefs about autism and live happier lives. eng

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12. Hung LY, Margolis KG. Autism spectrum disorders and the gastrointestinal tract: insights into mechanisms and clinical relevance. Nat Rev Gastroenterol Hepatol;2023 (Dec 19)

Autism spectrum disorders (ASDs) are recognized as central neurodevelopmental disorders diagnosed by impairments in social interactions, communication and repetitive behaviours. The recognition of ASD as a central nervous system (CNS)-mediated neurobehavioural disorder has led most of the research in ASD to be focused on the CNS. However, gastrointestinal function is also likely to be affected owing to the neural mechanistic nature of ASD and the nervous system in the gastrointestinal tract (enteric nervous system). Thus, it is unsurprising that gastrointestinal disorders, particularly constipation, diarrhoea and abdominal pain, are highly comorbid in individuals with ASD. Gastrointestinal problems have also been repeatedly associated with increased severity of the core symptoms diagnostic of ASD and other centrally mediated comorbid conditions, including psychiatric issues, irritability, rigid-compulsive behaviours and aggression. Despite the high prevalence of gastrointestinal dysfunction in ASD and its associated behavioural comorbidities, the specific links between these two conditions have not been clearly delineated, and current data linking ASD to gastrointestinal dysfunction have not been extensively reviewed. This Review outlines the established and emerging clinical and preclinical evidence that emphasizes the gut as a novel mechanistic and potential therapeutic target for individuals with ASD.

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13. Ioannidis V, Pandey R, Bauer HF, Schön M, Bockmann J, Boeckers TM, Lutz AK. Disrupted extracellular matrix and cell cycle genes in autism-associated Shank3 deficiency are targeted by lithium. Mol Psychiatry;2023 (Dec 20)

The Shank3 gene encodes the major postsynaptic scaffolding protein SHANK3. Its mutation causes a syndromic form of autism spectrum disorder (ASD): Phelan-McDermid Syndrome (PMDS). It is characterized by global developmental delay, intellectual disorders (ID), ASD behavior, affective symptoms, as well as extra-cerebral symptoms. Although Shank3 deficiency causes a variety of molecular alterations, they do not suffice to explain all clinical aspects of this heterogenic syndrome. Since global gene expression alterations in Shank3 deficiency remain inadequately studied, we explored the transcriptome in vitro in primary hippocampal cells from Shank3∆11(-/-) mice, under control and lithium (Li) treatment conditions, and confirmed the findings in vivo. The Shank3∆11(-/-) genotype affected the overall transcriptome. Remarkably, extracellular matrix (ECM) and cell cycle transcriptional programs were disrupted. Accordingly, in the hippocampi of adolescent Shank3∆11(-/-) mice we found proteins of the collagen family and core cell cycle proteins downregulated. In vitro Li treatment of Shank3∆11(-/-) cells had a rescue-like effect on the ECM and cell cycle gene sets. Reversed ECM gene sets were part of a network, regulated by common transcription factors (TF) such as cAMP responsive element binding protein 1 (CREB1) and β-Catenin (CTNNB1), which are known downstream effectors of synaptic activity and targets of Li. These TFs were less abundant and/or hypo-phosphorylated in hippocampi of Shank3∆11(-/-) mice and could be rescued with Li in vitro and in vivo. Our investigations suggest the ECM compartment and cell cycle genes as new players in the pathophysiology of Shank3 deficiency, and imply involvement of transcriptional regulators, which can be modulated by Li. This work supports Li as potential drug in the management of PMDS symptoms, where a Phase III study is ongoing.

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14. Jones M, Milbourn B, Falkmer M, Vinci B, Tan T, Bölte S, Girdler S. A Practical Framework for Delivering Strength-Based Technology Clubs for Autistic Adolescents. Autism Adulthood;2023 (Dec 1);5(4):356-365.

Autistic individuals experience poor vocational outcomes internationally. Transition planning and interventions during adolescence may assist in improving outcomes in adulthood. Strength-based technology clubs show promise in improving outcomes for autistic adolescents by developing skills specific to the Information and Communication Technology industry, and fostering positive traits, such as self-determination. Although strength-based technology clubs have been examined with autistic adolescents, to date, no framework has been proposed to underpin their design and delivery. In this conceptual analysis, we propose a practical framework for delivering strength-based technology clubs for autistic adolescents. The framework builds on work from a previous systematic review of qualitative research and a realist evaluation study of technology clubs for autistic adolescents, combined with theoretical understandings from three health models. The new framework comprised the components of interests, value, autonomy, and requirements, forming the acronym IVAR. Interests refer to strategies drawing on adolescents’ areas of interest. Value represents a culture of valuing autistic adolescents as individuals for their unique strengths and skills. Autonomy refers to providing opportunities for adolescents to make decisions, and Requirements refers to aspects of the social and physical environment. Practical recommendations of the framework are discussed, including design and delivery of future strength-based technology clubs, facilitator training, and design activities. The proposed IVAR framework may be useful in guiding the development of strength-based technology clubs. Future research is needed to validate the feasibility and efficacy of the IVAR framework in underpinning the delivery of strength-based technology clubs to autistic adolescents. WHY IS THIS TOPIC IMPORTANT? The shift from adolescence to adulthood can be challenging for young people on the autism spectrum, and opportunities for employment may be limited. Modern approaches to improving employment outcomes for autistic youth highlight the importance of adopting a strength-based framework, such as matching the strengths and interests of autistic young people to future career pathways. The strengths of many autistic individuals are considered beneficial for employment in the Information and Communication Technology (ICT) sector. Strength-based technology clubs provide opportunities for autistic young people to develop their technological and social skills, meet role models working in the ICT industry, and help them to find work experience. WHAT WAS THE PURPOSE OF THIS ARTICLE? The purpose of this article was to develop a new framework for delivering strength-based technology clubs to autistic adolescents. The development of this framework was guided by the authors’ earlier work in this area. WHAT DO THE AUTHORS CONCLUDE? The authors proposed a new framework for delivering strength-based technology clubs to autistic adolescents. The framework contains four components, creating the acronym IVAR: Interests, Value, Autonomy, and Requirements. The component, Interests, refers to strategies that draw on adolescents’ areas of interest, such as changing activities to include adolescents’ focused interests. Value represented a culture of valuing autistic adolescents as individuals for their unique strengths and skills. Autonomy refers to providing opportunities for adolescents to make decisions during the program, and Requirements refers to the design of the social and physical environment. WHAT DO THE AUTHORS RECOMMEND FOR FUTURE RESEARCH ON THIS TOPIC? The authors recommend that future research should focus on exploring how practical and appropriate the IVAR framework is in supporting the delivery of strength-based technology clubs for autistic adolescents. The four IVAR components are potentially applicable to other areas of community focus to guide strength-based approaches more generally within autism research. HOW WILL THIS ANALYSIS HELP AUTISTIC ADULTS NOW AND IN THE FUTURE? This analysis and discussion will provide researchers, autistic individuals, and the community with practical examples of how service providers can apply IVAR to design and deliver strength-based technology programs for autistic adolescents. eng

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15. Kim J, Lee J, Jang DH. Combining chromosomal microarray and clinical exome sequencing for genetic diagnosis of intellectual disability. Sci Rep;2023 (Dec 20);13(1):22807.

Despite the current widespread use of chromosomal microarray analysis (CMA) and exome/genome sequencing for the genetic diagnosis of unexplained intellectual disability (ID) in children, gaining improved diagnostic yields and defined guidelines remains a significant challenge. This is a cohort study of children with unexplained ID. We analyzed the diagnostic yield and its correlation to clinical phenotypes in children with ID who underwent concurrent CMA and clinical exome sequencing (CES). A total of 154 children were included (110 [71.4%] male; mean [SD] age, 51.9 [23.1] months). The overall diagnosis yield was 26.0-33.8%, with CMA contributing 12.3-14.3% and CES contributing 13.6-19.4%, showing no significant difference. The diagnostic rate was significantly higher when gross motor delay (odds ratio, 6.69; 95% CI, 3.20-14.00; P < 0.001), facial dysmorphism (odds ratio, 9.34; 95% CI 4.29-20.30; P < 0.001), congenital structural anomaly (odds ratio 3.62; 95% CI 1.63-8.04; P = 0.001), and microcephaly or macrocephaly (odds ratio 4.87; 95% CI 2.05-11.60; P < 0.001) were presented. Patients with only ID without any other concomitant phenotype (63/154, 40.9%) exhibited a 6.3-11.1% diagnostic rate.

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16. Koc E, Kalkan H, Bilgen S. Autism Spectrum Disorder Detection by Hybrid Convolutional Recurrent Neural Networks from Structural and Resting State Functional MRI Images. Autism Res Treat;2023;2023:4136087.

This study aims to increase the accuracy of autism spectrum disorder (ASD) diagnosis based on cognitive and behavioral phenotypes through multiple neuroimaging modalities. We apply machine learning (ML) algorithms to classify ASD patients and healthy control (HC) participants using structural magnetic resonance imaging (s-MRI) together with resting state functional MRI (rs-f-MRI and f-MRI) data from the large multisite data repository ABIDE (autism brain imaging data exchange) and identify important brain connectivity features. The 2D f-MRI images were converted into 3D s-MRI images, and datasets were preprocessed using the Montreal Neurological Institute (MNI) atlas. The data were then denoised to remove any confounding factors. We show, by using three fusion strategies such as early fusion, late fusion, and cross fusion, that, in this implementation, hybrid convolutional recurrent neural networks achieve better performance in comparison to either convolutional neural networks (CNNs) or recurrent neural networks (RNNs). The proposed model classifies subjects as autistic or not according to how functional and anatomical connectivity metrics provide an overall diagnosis based on the autism diagnostic observation schedule (ADOS) standard. Our hybrid network achieved an accuracy of 96% by fusing s-MRI and f-MRI together, which outperforms the methods used in previous studies.

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17. Kordbagheri M, Kordbagheri A, Tayim N, Davoudi M. Evaluation of the psychometric indicators of the Comprehensive Autistic Trait Inventory in Iranian adults. Asian J Psychiatr;2023 (Dec 20);91:103885.

BACKGROUND: The DSM-5’s Comprehensive Autism Traits Inventory (CATI) was a useful diagnostic tool for the general population because it covered all the critical aspects of autism. However, its reliability and validity in the overall Iranian population still need to be investigated. PURPOSE: We reviewed the inventory and estimated the validity and reliability of the Iranian version of CATI among 1800 adults. METHODS: The Persian version of CATI (CATI-I) was administered to 1800 Iranian adults using the online Star Questionnaire system. Internal consistency, convergent validity, discriminant validity, test-retest reliability, and measurement invariance across genders were calculated. RESULTS: The Correlated social & non-social bifactor model showed the best fit in the Iranian community (CFI=.966; TLI=.947; RMSEA=.045; SRMR=.028). Ultimately, the CATI-I scale in the Iranian community consisted of 39 items across six factors and two higher-order constructs. Additionally, the CATI-I scale’s convergent validity and reliability values were acceptable. CONCLUSION: The CATI-I demonstrates satisfactory reliability and validity in measuring autism traits. It is an appropriate model for the second-order social and non-social factors, and it also shows measurement invariance across genders.

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18. Kose S, Turer F, Inal Kaleli I, Calik Senturk HN, Ozuysal Uyar DH, Bildik T. The Relationship Between Social Skills and Sensory Profile, Emotion Regulation, and Empathizing/Systemizing in Adolescents on the Autism Spectrum. J Autism Dev Disord;2023 (Dec 20)

This study aims to evaluate the relationship between social skills and sensory features, emotion regulation, and empathy in adolescents on the autism spectrum. One hundred and twenty-three adolescents were included in the study (50 autistic, 73 typically developing-TD adolescents). The participants filled out the Adolescent/Adult Sensory Profile (AASP) and Emotion Regulation Questionnaire. Parents of the participants completed the Child Empathy and Systemizing Quotient (EQ-C/SQ-C) and Autism-Social Skills Profile (ASSP) scales. Social reciprocity, social participation/avoidance, ASSP total scores, empathy and systemizing scores were lower, and detrimental social behaviors, low registration sensory profile scores were higher in the autism spectrum group. While a difference between genders was observed in sensory sensitivity, sensation avoiding, low registration quadrants and empathy scores, no gender and group interaction was found in any domain. Social skill total scores were correlated to sensation seeking and low registration sensory features, empathy, systemizing, and reappraisal emotion regulation scores. A hierarchical multiple linear regression analysis was conducted controlling for group and gender, sensation seeking (p = .032, β = 0.138), low registration (p = .012, β = – 0.215) of the AASP, and empathy (p < .001, β = 0.555) and systemizing (p = .033, β = 0.138) scores of the EQ/SQ-C was found to significantly predict social skill total scores. Although emotional regulation strategies may play a role, sensory processing features and empathy and systemizing skills seem to be the more significant contributors to social skills during adolescence. Interventions targeting sensory processing and especially improving empathy and systematization skills may positively affect social skills in adolescents on the autism spectrum.

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19. Liu TH, Huang PY, Wu JY, Chuang MH, Hsu WH, Tsai YW, Kao PH, Lai CC. Post-COVID-19 condition risk in patients with intellectual and developmental disabilities: a retrospective cohort study involving 36,308 patients. BMC Med;2023 (Dec 20);21(1):505.

BACKGROUND: To date, no studies have investigated the prevalence of post-COVID-19 conditions in patients with Intellectual and Developmental Disabilities (IDD). Addressing this research gap is crucial, as understanding post-COVID-19 conditions in IDD patients can improve care planning, and it is essential not to overlook this vulnerable population in COVID-19 studies. This study was aimed at investigating the prevalence of post-COVID-19 conditions in patients with IDD and compare their risk with that of the general population. METHODS: Using the TriNetX network, we identified patients with and without an IDD who had COVID-19. Subsequently, we compared the risk of developing any post-COVID-19 condition between these two groups, during the 90-180-day follow-up after SARS-CoV-2 infection. RESULTS: During the follow-up, patients with an IDD exhibited a significantly higher prevalence of post-COVID-19 conditions compared to the general population (hazard ratio [HR], 1.120; 95% confidence interval [CI]: 1.053-1.191). Specifically, COVID-19 survivors with IDD had a significantly increased risk of experiencing abnormal breathing (HR, 1.216; 95% CI: 1.077-1.373), abdominal symptoms (HR, 1.259; 95% CI: 1.128-1.406), fatigue (HR, 1.397; 95% CI: 1.216-1.606), anxiety/depression (HR, 1.157; 95% CI: 1.050-1.274), cognitive symptoms (HR, 1.828; 95% CI: 1.529-2.186), myalgia (HR, 1.325; 95% CI: 1.077-1.631), sleep disturbances (HR, 1.481; 95% CI: 1.148-1.910), and cough (HR, 1.315; 95% CI: 1.146-1.508) compared to the non-IDD group. CONCLUSIONS: Patients with IDD might be associated with a higher risk of post-COVID-19 conditions following SARS-CoV-2 infection compared to the general population.

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20. Long KA, LaRochelle J, Gordillo M, Pariseau EM, DeCelle MG, Orsmond G. Siblings FORWARD: Development of a New Program to Engage Siblings of Autistic Adults in Future Planning. J Autism Dev Disord;2023 (Dec 20)

The adult service system does not adequately meet the needs of autistic adults, prompting families to continue their supportive roles. Siblings frequently assume these roles when parents are no longer able to do so, often without preparation or planning. We received feedback on the proposed Siblings FORWARD (Focusing on Relationships, Well-being, and Responsibility aheaD) program concept, which would involve 6-7 individualized sessions over ~ 3 months and would facilitate siblings’ proactive future planning involvement with their autistic family member. Siblings FORWARD would bolster siblings’ skills, knowledge, and self-efficacy to engage in future planning with their family members. We report on perceived need for a sibling program and feedback on the proposed program goals, content, and design. Adult siblings (n = 13), autistic adults (n = 6), and service providers (n = 17) participated in individual interviews or focus groups. Data were systematically coded and analyzed using directed content analysis. Siblings, autistic adults, and service providers expressed high enthusiasm for the Siblings FORWARD concept. Participants indicated that the combination of skill-building and education would promote continued, collaborative future planning that persists after the formal program ends. They had positive impressions of the program concept, goals, content, and design, including the telehealth delivery model. Siblings and autistic adults reported wanting to participate in Siblings FORWARD. This uniform, strong enthusiasm for the Siblings FORWARD concept warrants moving forward to examine preliminary acceptability and feasibility. Ultimately, greater sibling involvement in family future planning may improve autistic adults’ functioning through improved continuity of care and support across adulthood.

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21. Love AMA, Cai RY, Edwards C, Gibbs V. Exploring Identity Importance for Autistic Adults and Associations with Disclosure Experiences: A Brief Report. Autism Adulthood;2023 (Dec 1);5(4):450-456.

BACKGROUND: A strong autistic identity can help to support mental well-being, reduce anxiety and depression, increase self-esteem, and strengthen a shared community for autistic people. Autistic people are regularly faced with a decision to disclose their autistic identity to others and report a range of experiences after disclosure. The purpose of this brief report was to examine the association between identity and disclosure decisions in a sample of autistic adults to gather preliminary evidence justifying future research. Specifically, we were interested in learning more about how autistic identity is associated with one’s approach to disclosure, while also exploring associations with other identities such as ethnic, gender, sexual, and religious identity. METHODS: Participants (N = 111) completed an online questionnaire about their intersecting identities and their approach to disclosure. The research team that conducted this study was composed of both autistic and nonautistic researchers. RESULTS: Results demonstrated that participants who felt their autistic identity and sexual identity were highly important also reported frequent disclosure of being autistic. Religious, gender, and ethnic identity were not associated with one’s disclosure decisions or their disclosure outcomes. CONCLUSION: Overall, the results of this study emphasize the link between autistic and sexual identities and autism disclosure, but more research in this space is needed to better support the wider autism community. WHY IS THIS AN IMPORTANT ISSUE? Autistic identity is when a person feels a connection to others who are autistic, or to the larger autistic community. Disclosure, or sharing being autistic, is a complex decision that can have a significant impact on an autistic person’s life. Both disclosure and autistic identity can be linked to the quality of life for many autistic adults. WHAT WAS THE PURPOSE OF THIS STUDY? We wanted to know whether autistic identity and disclosure were connected. We wondered whether people who felt a stronger sense of autistic identity would be more likely to share that they were autistic with other people. We also studied other identities such as religious identity, sexual identity, and gender identity—to see whether they were also connected to a person’s autism disclosure decisions. WHAT DID THE RESEARCHERS DO? We used an online survey to ask 111 autistic adults about their identity and their autism disclosure decisions. The research team that conducted this study included both autistic and nonautistic researchers. WHAT WERE THE RESULTS OF THE STUDY? Autistic participants in our study who felt their autistic identity and sexual identity were highly important also told us they disclosed their autistic identity often to others in their life. Other identities, such as religious identity and ethnic identity, did not seem to relate to a person’s autism disclosure in our study. WHAT DO THESE FINDINGS ADD TO WHAT WAS ALREADY KNOWN? This research is the start of what we know about the connection between the identities of an autistic person and their disclosure decisions. Preliminary research like this study helps to show a reason for more research on this topic to increase knowledge and acceptance. WHAT ARE POTENTIAL WEAKNESSES IN THE STUDY? This study does not cover the experiences of all autistic people, only those who could use technology to complete an online survey. Also, the design of the study only allows us to conclude that disclosure and identity are related, but we cannot yet say whether one influences the other. HOW WILL THESE FINDINGS HELP AUTISTIC ADULTS NOW OR IN THE FUTURE? This research can help to justify additional investigations into this topic and demonstrate the importance of listening to autistic voices to understand their experiences with disclosure and how they may be influenced by their identities. For practitioners such as educators or therapists who work with autistic adults, this research can lead to knowledge that supports mental well-being. eng

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22. Love AMA, Edwards C, Cai RY, Gibbs V. Using Experience Sampling Methodology to Capture Disclosure Opportunities for Autistic Adults. Autism Adulthood;2023 (Dec 1);5(4):389-400.

BACKGROUND: Despite a recent surge in literature contributing to our understanding of autistic individuals’ disclosure experiences, the findings remain mixed. Research based on autistic people’s perspective often indicates negative outcomes, while research that focuses on nonautistic perspectives is more positive. In addition, no disclosure study has used ecologically valid research methods, which help to reduce the risk of memory biases and are more representative of real-world experiences. The aim of this research was to capture outcomes from real-world disclosure opportunities as reported by a diverse range of autistic adults. METHODS: Thirty-six autistic adults reported their disclosure opportunities through experience sampling methodology (58% female, 28% male, and 14% nonbinary), multiple times per day or week for 2 months. Importantly, we embedded coproduction from conception to dissemination, ensuring that the outputs are relevant and beneficial for the autistic community. RESULTS: In total, participants recorded 231 disclosure opportunities (M = 6.42, SD = 4.83). Two-thirds of opportunities (n = 153) were categorized as disclosure, where the participants decided to share they were autistic, and 33.8% (n = 78) were labeled nondisclosure, where the participants decided not to share that they were autistic. Qualitative thematic analysis of open responses resulted in five themes that illustrated the thought processes during disclosure opportunities, the reactions of others, and reflections following disclosure for autistic adults in our study. CONCLUSION: These findings show that disclosure decisions and outcomes are complex and are influenced by both internal and external factors. Both support for autistic adults navigating this process and knowledge for nonautistic individuals on the experiences of their autistic friends, family, and community members will help to alleviate negative experiences and improve the mental well-being of autistic adults who face these decisions daily. WHY IS THIS AN IMPORTANT ISSUE? Disclosure is choosing to tell someone that you are autistic. Nondisclosure is choosing not to tell someone you are autistic. This can be difficult for many people and can have a significant impact on their life. WHAT WAS THE PURPOSE OF THIS STUDY? We wanted to explore disclosure opportunities for autistic people. We wanted to know what these experiences looked like over 2 months and on a daily basis. WHAT DID THE RESEARCHERS DO? The research team asked autistic adults to complete a survey through a smartphone application every time they considered sharing that they were autistic over 2 months. The questions asked participants about their thoughts, feelings, and behaviors right after the experience. WHAT WERE THE RESULTS OF THE STUDY? Our participants shared 231 disclosure opportunities with us over 2 months. Some people shared no experiences, while others shared up to 19 experiences. On average, people shared six experiences. People told us how these opportunities went, and we found five common threads (“themes”) across their experiences. First, when deciding whether to disclose or not, autistic people considered how safe they felt in their environment and with the people around them. Autistic people often thought about what they were hoping to gain by disclosing, and if there was nothing to gain, they decided against it. We learned that disclosure takes a lot of energy. We also learned that other people responded to disclosure in positive, neutral, and negative ways across all contexts. Finally, we found that our participants tried to learn from their experiences before the next time they thought about disclosure. WHAT DO THESE FINDINGS ADD TO WHAT WAS ALREADY KNOWN? Our findings were similar to previous research that explored how complex autistic disclosure is. However, by gathering information in real time (instead of relying on recall), we learned that a decision to disclose is not only weighing up personal advantages and disadvantages, but also takes into consideration how safe the person feels in a particular environment and how much energy they feel they have at the time. We also learned that sometimes people do not disclose because they are worried about how someone might respond, but other times they simply feel there is no benefit to disclosure. WHAT ARE THE POTENTIAL WEAKNESSES IN THE STUDY? We understand that the experiences of our participants may not apply to all autistic people. Also, because participants had to use a computer or smartphone to be in the study, the findings may be different for individuals who were not able to participate. HOW WILL THESE FINDINGS HELP AUTISTIC ADULTS NOW OR IN THE FUTURE? The findings help us to listen to autistic voices and learn about their experiences. We have used the results to make resource guides. This includes a guide for autistic people (including an easy English version) and a guide for nonautistic people. These resource guides can be found within the Supplementary Data, on our research website, or by getting in touch with the authorship team.Link to “a guide for autistic people” https://www.autismspectrum.org.au/uploads/documents/Research/Disclosure-opportunities-resource-guide-for-Autistic-people-Easy-English.pdf Link to “easy English version” https://www.autismspectrum.org.au/uploads/documents/Research/Disclosure-opportunities-resource-guide-for-Autistic-people_2022-12-12-005526_vgvt.pdf Link to “non-autistic people” https://www.autismspectrum.org.au/Supporting-Autistic-people-who-may-want-to-disclose. eng

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23. MacLennan K, Woolley C, Andsensory E, Heasman B, Starns J, George B, Manning C. « It Is a Big Spider Web of Things »: Sensory Experiences of Autistic Adults in Public Spaces. Autism Adulthood;2023 (Dec 1);5(4):411-422.

BACKGROUND: Sensory processing differences are commonly experienced by autistic individuals, and some sensory experiences can greatly impact the mental health and quality of life of individuals. Previous research suggests that adapting the sensory nature of environments may improve individual experiences and engagement with these spaces. However, knowledge about which public places are particularly disabling is limited, especially from the perspective of autistic individuals. Little is also known about what in the sensory environment makes them particularly disabling. METHODS: In this participatory research study, we investigated the sensory experiences of autistic adults in public spaces. We used an online focus group method, recruiting 24 autistic adults across 7 focus groups. We applied content analysis, reflexive thematic analysis, and case study analysis. RESULTS: The results of the content analysis showed that supermarkets, eateries (i.e., restaurants, cafés, pubs), highstreets and city/town centers, public transport, health care settings (i.e., doctor’s surgeries and hospitals), and retail shops and shopping centers are experienced to be commonly disabling sensory environments for autistic adults. However, outdoor spaces, retail shops, museums, concert venues/clubs, cinemas/theaters, and stadiums are identified to be commonly less disabling sensory environments. In addition, through reflexive thematic analysis we identified 6 key principles that underlie how disabling or enabling sensory environments are: Sensoryscape (sensory environment), Space, Predictability, Understanding, Adjustments, and Recovery. We represented these principles as a web to emphasize the interconnected, dimensional spectrum of the different themes. Lastly, we used case study analysis to evidence these principles in the commonly disabling sensory environments for richer detail and context and to provide credibility for the principles. CONCLUSIONS: Our findings have important implications for businesses, policy, and built environment designers to reduce the sensory impact of public places to make them more enabling for autistic people. By making public spaces more enabling, we may be able to improve quality of life for autistic individuals. WHY WAS THIS STUDY DONE? Autistic people often experience differences in sensory processing, such as finding bright lights and sounds overwhelming and painful. This has been linked to poorer quality of life and mental health. Not much is known about how public places could be changed to be less disabling for autistic adults. WHAT WAS THE PURPOSE OF THIS STUDY? We aimed to find out which public places are disabling for autistic adults due to the sensory environment, and what about these places makes them especially challenging. WHAT DID THE RESEARCHERS DO? We invited autistic adults to take part in online focus groups to tell us about their sensory experiences in public places. In total, 24 people took part across 7 focus groups. We analysed the data 3 ways: 1) we conducted content analysis, identifying categories of words or phrases that share meaning to find commonly disabling and enabling places; 2) we conducted reflexive thematic analysis, developing themes and sub-themes from trends in the data to understand how sensory environments can be experienced as disabling or enabling; and 3) we conducted case study analysis, to see if the themes and sub-themes were present in the commonly disabling environments. WHAT WERE THE RESULTS OF THE STUDY? We found that supermarkets, eateries (i.e., restaurants, cafés, pubs), highstreets and city/town centres, public transport, healthcare settings (i.e., doctor’s surgeries and hospitals), and retail shops and shopping centres, were most often mentioned as being disabling sensory environments. But, outdoor spaces, retail shops, museums, concert venues/clubs, cinemas/theatres, and stadiums were most often talked about as being less disabling sensory environments. We also identified principles that can make these environments either disabling or enabling. These included Sensoryscape or the `sensory landscape’ (sensory burden, sustained and inescapable input, uncontrollable environment), Space (busy and crowded, confined the built environment is), Predictably (lack of information, inconsistent and unfamiliar, and uncertainty), Understanding (unsupportive people, misunderstanding and judgement), Adjustments (suitable adjustments, pace pressures, inflexible communication), and Recovery (space to escape, unable to recover and prepare). Last, we showed in more detail what these principles look like in the different disabling public places. WHAT DO THESE FINDINGS ADD TO WHAT WAS ALREADY KNOWN? Our findings add to our understanding about how autistic adults experience public places; particularly, that there are a range of external factors linked with sensory processing differences which can make public places disabling. WHAT ARE POTENTIAL WEAKNESSES IN THE STUDY? Our study could have recruited a more diverse range of autistic individuals, such as those with cooccurring intellectual disability. It is important to understand experiences from a diverse range of autistic people to ensure that outcomes from research can improve the lives of all autistic people. HOW WILL THESE FINDINGS HELP AUTISTIC ADULTS NOW OR IN THE FUTURE? Our findings provide insights into how public places could be improved so that they can become more enabling environments for autistic people. This is important for businesses, policy, and the design of spaces to make public places more accessible, improving mental wellbeing and quality of life for autistic individuals. eng

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24. Mazzone L, Dooling SW, Volpe E, Uljarević M, Waters JL, Sabatini A, Arturi L, Abate R, Riccioni A, Siracusano M, Pereira M, Engstrand L, Cristofori F, Adduce D, Francavilla R, Costa-Mattioli M, Hardan AY. Precision microbial intervention improves social behavior but not autism severity: A pilot double-blind randomized placebo-controlled trial. Cell Host Microbe;2023 (Dec 12)

Autism spectrum disorder (ASD) is characterized by the presence of restricted/repetitive behaviors and social communication deficits. Because effective treatments for ASD remain elusive, novel therapeutic strategies are necessary. Preclinical studies show that L. reuteri selectively reversed social deficits in several models for ASD. Here, in a double-blind, randomized, placebo-controlled trial, we tested the effect of L. reuteri (a product containing a combination of strains ATCC-PTA-6475 and DSM-17938) in children with ASD. The treatment does not alter overall autism severity, restricted/repetitive behaviors, the microbiome composition, or the immune profile. However, L. reuteri combination yields significant improvements in social functioning that generalized across different measures. Interestingly, ATCC-PTA-6475, but not the parental strain of DSM-17938, reverses the social deficits in a preclinical mouse model for ASD. Collectively, our findings show that L. reuteri enhances social behavior in children with ASD, thereby warranting larger trials in which strain-specific effects should also be investigated.

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25. Petty S, Allen S, Pickup H, Woodier B. A Blog-Based Study of Autistic Adults’ Experiences of Aloneness and Connection and the Interplay with Well-Being: Corpus-Based and Thematic Analyses. Autism Adulthood;2023 (Dec 1);5(4):437-449.

BACKGROUND: Autistic adults appear to be more vulnerable to mental ill health, with loneliness being a variable associated with multiple outcomes of poorer well-being. However, a description of meaningful social connection that is suitable for autistic adults is missing from this research, along with a missing understanding of the conditions that contribute to well-being. METHODS: In this study, autistic adults’ experiences of connectedness and aloneness were systematically searched for within data collected from blogs. This contributed a creative method to hear the viewpoint of autistic adults. Corpus-based and thematic analyses explored the descriptions and contexts of relationships. A total of 16 autistic authors contributed views. RESULTS: Social connection was desired and was achieved through self-acceptance and rejecting deficit-based views of being autistic, and selectively choosing important relationships. Meaningful social connection changed over time, being more difficult to attain in childhood, and benefiting from self-learning and effortfully applying neuro-normative skills in social communication. Loneliness was only described alongside other causes of unhappiness and was not associated with being autistic. CONCLUSIONS: The findings offer some explanation for the high estimates of both loneliness and mental ill health for autistic adults. We consider the implications for autistic individuals, clinicians, educators, and researchers. We are also cautious not to imply that these views reflect all autistic people. The findings suggest that improvements are needed in society to share communication differences and relationship expectations for autistic individuals to be accepted and valued. WHY IS THIS AN IMPORTANT ISSUE? Autistic adults appear to be vulnerable to mental ill health, though this is often misunderstood. Being lonely, or dissatisfied with social relationships, has been linked to poorer well-being. However, most research uses questionnaires to assess loneliness, which make assumptions that need updating for autistic adults. For example, having fewer friends does not necessarily mean feeling lonely. We are also missing an understanding of what contexts make autistic people feel alone or connected. WHAT WAS THE PURPOSE OF THIS STUDY? The purpose of this study was to hear the experiences of aloneness and social connectedness as described personally by autistic adults. We chose to use data from online blogs, because the topics and descriptions were chosen through personal motivation of the authors and minimize assumptions made by researchers. WHAT DID THE RESEARCHERS DO? We created a dataset of descriptions of social connectedness from the top trending blogs written by autistic authors. We used systematic search methods to do this. We chose 33 search terms that describe social connection and aloneness, as not to presume that autistic people are lonely, such as “friendships” and “belonging.” We analyzed the descriptions first using a computer program to find patterns in language, including the most frequent descriptions. This is called corpus-based analysis. It was chosen to reduce the bias that researchers can introduce when they look for themes in what people talk about. Second, we used a method called thematic analysis to explore the shared meanings in the descriptions, which helped us to understand the contexts of relationships. We collected views from 16 autistic authors. WHAT WERE THE RESULTS OF THE STUDY? The results showed that the blog authors desired social connection and had meaningful relationships. This was achieved through self-acceptance and self-compassion. Authors said that they learned about themselves over time. They learnt social skills that they thought were expected by non-autistic peers. They also rejected the view that being autistic was a negative thing. Loneliness was described only when people had other things making them unhappy, such as anxiety or depression, and was not associated with being autistic more generally. WHAT DO THESE FINDINGS ADD TO WHAT WAS ALREADY KNOWN? Unhappiness with social relationships seems to occur in certain circumstances, which change over time. Importantly, these autistic authors said they felt connected when they had a positive identity, were understood by the people important to them, and were able to make choices about how to invest in relationships. WHAT ARE POTENTIAL WEAKNESSES IN THE STUDY? We only heard from a small sample of autistic people, likely those with good internet skills who were interested in social media. This might be a group of people who are motivated to connect with other people. Also, we could not follow up on the meanings of what was written because we had no interaction with participants. HOW WILL THESE FINDINGS HELP AUTISTIC ADULTS NOW OR IN THE FUTURE? Within health care, there seems to be a risk of misunderstanding autistic clients when practitioners use questionnaires to assess well-being or loneliness, when the questionnaires are not created for autistic people. We recommend not assuming loneliness, but instead, asking whether feeling lonely occurs under certain circumstances. There is more for clinicians and researchers and society to do to share the responsibility for social communication differences. eng

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26. Picciuca C, Assogna M, Esposito R, D’Acunto A, Ferraresi M, Picazio S, Borghi I, Martino Cinnera A, Bonnì S, Chiurazzi P, Koch G. Transcranial direct current stimulation combined with speech therapy in Fragile X syndrome patients: a pilot study. Front Neurol;2023;14:1268165.

BACKGROUND: Fragile X syndrome (FXS) is the leading cause of genetic intellectual disability. Among the neurobehavioral dysfunctions in FXS individuals, language development and literacy are compromised. Recent evidence hypothesized that the disruption of excitatory glutamatergic and GABAergic inhibitory neurotransmission balance might be responsible for impairment in cognitive function. In this study, we evaluated for the first time, the safety, tolerability, and efficacy of anodal prefrontal transcranial direct current stimulation (tDCS) combined with standard speech therapy to enhance language function in FXS patients. METHODS: In total, 16 adult FXS patients were enrolled. Participants underwent 45 min of anodic tDCS combined with speech therapy for 5 weeks (3 times per week). Language function was evaluated using the Test for Reception of Grammar-Version 2 (TROG-2) and subtests of the Italian Language Examination (Esame del Linguaggio – II, EDL-II). Right and left dorsolateral prefrontal cortex transcranial magnetic stimulation and concurrent electroencephalography (TMS-EEG) recordings were collected at baseline and after the treatment to evaluate cortical reactivity and connectivity changes. RESULTS: After 5 weeks of combined therapy, we observed a significant improvement in the writing (7.5%), reading (20.3%), repetition (13.3%), and TROG-2 (10.2%) tests. Parallelly with clinical change, TMS-EEG results showed a significant difference in TMS-evoked potential amplitude over the left frontal cortex after treatment (-0.73 ± 0.87 μV) compared to baseline (0.18 ± 0.84 μV). CONCLUSION: Our study provides novel evidence that left anodal prefrontal tDCS combined with standard speech therapy could be effective in enhancing language function in FXS patients, mainly by inducing a rebalance of the dysfunctional prefrontal cortical excitability.

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27. Pitt AR, Osabuohien LW, Brady NC. Phonemic Feature Scoring as a Tool for Progress Monitoring During Language Interventions for Children With Autism and Minimal Verbal Skills. Am J Speech Lang Pathol;2023 (Dec 20):1-17.

PURPOSE: An increasing number of studies focus on verbal treatments for children with autism and minimal verbal skills. However, clinical tools for progress monitoring during interventions are lacking. The aim of this clinical focus article is to provide illustrations on the utility of a phonemic feature scoring system as a progress-monitoring tool, focusing on benefits and limitations as well as indications for use. METHOD: Current practices for progress monitoring during language interventions with children with autism and minimal verbal skills are reviewed. A phonemic feature scoring tool is provided to aid clinicians in assessing the accuracy and consistency of expressive word productions. The authors illustrate the use of phonemic feature scoring as a progress-monitoring tool for two children with autism and minimal verbal skills, contrasting the phonemic feature scoring system to correct/incorrect, phoneme-level, and whole-word scoring. RESULTS: Case 1 demonstrates a scenario where the child’s speech intelligibility is low and clinical use of the phonemic feature scoring system captures discrete changes in speech production progress not represented by correct/incorrect, phoneme-level, and whole-word scoring. However, Case 2 represents a situation where once a child’s speech intelligibility improves, the phonemic feature scoring system is no longer needed, and correct/incorrect scoring may be sufficient. CONCLUSION: The phonemic feature scoring system allows clinicians to track phonemic feature changes in word productions and provides detailed progress monitoring information, leading to adaptations of the intervention for each individual.

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28. Rządeczka M, Wodziński M, Moskalewicz M. Cognitive biases as an adaptive strategy in autism and schizophrenia spectrum: the compensation perspective on neurodiversity. Front Psychiatry;2023;14:1291854.

This article presents a novel theoretical perspective on the role of cognitive biases within the autism and schizophrenia spectrum by integrating the evolutionary and computational approaches. Against the background of neurodiversity, cognitive biases are presented as primary adaptive strategies, while the compensation of their shortcomings is a potential cognitive advantage. The article delineates how certain subtypes of autism represent a unique cognitive strategy to manage cognitive biases at the expense of rapid and frugal heuristics. In contrast, certain subtypes of schizophrenia emerge as distinctive cognitive strategies devised to navigate social interactions, albeit with a propensity for overdetecting intentional behaviors. In conclusion, the paper emphasizes that while extreme manifestations might appear non-functional, they are merely endpoints of a broader, primarily functional spectrum of cognitive strategies. The central argument hinges on the premise that cognitive biases in both autism and schizophrenia spectrums serve as compensatory mechanisms tailored for specific ecological niches.

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29. Shen M, Sirois CL, Guo Y, Li M, Dong Q, Méndez-Albelo NM, Gao Y, Khullar S, Kissel L, Sandoval SO, Wolkoff NE, Huang SX, Xu Z, Bryan JE, Contractor AM, Korabelnikov T, Glass IA, Doherty D, Levine JE, Sousa AMM, Chang Q, Bhattacharyya A, Wang D, Werling DM, Zhao X. Species-specific FMRP regulation of RACK1 is critical for prenatal cortical development. Neuron;2023 (Dec 20);111(24):3988-4005.e3911.

Fragile X messenger ribonucleoprotein 1 protein (FMRP) deficiency leads to fragile X syndrome (FXS), an autism spectrum disorder. The role of FMRP in prenatal human brain development remains unclear. Here, we show that FMRP is important for human and macaque prenatal brain development. Both FMRP-deficient neurons in human fetal cortical slices and FXS patient stem cell-derived neurons exhibit mitochondrial dysfunctions and hyperexcitability. Using multiomics analyses, we have identified both FMRP-bound mRNAs and FMRP-interacting proteins in human neurons and unveiled a previously unknown role of FMRP in regulating essential genes during human prenatal development. We demonstrate that FMRP interaction with CNOT1 maintains the levels of receptor for activated C kinase 1 (RACK1), a species-specific FMRP target. Genetic reduction of RACK1 leads to both mitochondrial dysfunctions and hyperexcitability, resembling FXS neurons. Finally, enhancing mitochondrial functions rescues deficits of FMRP-deficient cortical neurons during prenatal development, demonstrating targeting mitochondrial dysfunction as a potential treatment.

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30. Stasolla F, Passaro A, Di Gioia M, Curcio E, Zullo A. Combined extended reality and reinforcement learning to promote healthcare and reduce social anxiety in fragile X syndrome: a new assessment tool and a rehabilitative strategy. Front Psychol;2023;14:1273117.

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31. Stewart M, Day A, Bertilsdotter Rosqvist H. Call for Papers: Autism and Aging: A Lifespan Approach: Deadline for Manuscript Submission: January 15, 2024. Autism Adulthood;2023 (Dec 1);5(4):345-346.

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32. Sullivan MI, Gupta MJ, Taylor KA, Van Mater HA, Pizoli CE. Disease Course and Response to Immunotherapy in Children With Childhood Disintegrative Disorder: A Retrospective Case Series. J Child Neurol;2023 (Dec 19):8830738231220278.

Childhood disintegrative disorder is a poorly understood neurobehavioral disorder of early childhood characterized by acute to subacute profound regression in previously developed language, social behavior, and adaptive functions. The etiology of childhood disintegrative disorder remains unknown and treatment is focused on symptomatic management. Interest in neuroinflammatory mechanisms has grown with the increased recognition of autoimmune brain diseases and similarities between the presenting symptoms of childhood disintegrative disorder and pediatric autoimmune encephalitis. Importantly, a diagnosis of pediatric autoimmune encephalitis requires evidence of inflammation on paraclinical testing, which is absent in childhood disintegrative disorder. Here we report 5 children with childhood disintegrative disorder who were initially diagnosed with possible autoimmune encephalitis and treated with immunotherapy. Two children had provocative improvements, whereas 3 did not change significantly on immunotherapy. Additionally, a sixth patient with childhood disintegrative disorder evaluated in our Autoimmune Brain Disease Clinic showed spontaneous improvement and is included to highlight the variable natural history of childhood disintegrative disorder that may mimic treatment responsiveness.

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33. Than UTT, Nguyen LT, Nguyen PH, Nguyen XH, Trinh DP, Hoang DH, Nguyen PAT, Dang VD. Inflammatory mediators drive neuroinflammation in autism spectrum disorder and cerebral palsy. Sci Rep;2023 (Dec 18);13(1):22587.

Inflammation conditions are associated with autism spectrum disorder (ASD) and cerebral palsy (CP), primarily observed in the peripheral immune system. However, the extent of neuro-inflammation and neuro-immune dysregulation remains poorly studied. In this study, we analyzed the composition of cerebrospinal fluid (CSF) to uncover the inflammatory mediators driving the neuro-immune system in ASD and CP patients. Our findings revealed that ASD patients had elevated levels of four inflammatory cytokines (TNF-α, IL-4, IL-21, and BAFF) compared to controls, while CP patients exhibited increased levels of eight inflammatory cytokines (IFN-γ, GM-CSF, TNF-α, IL-2, IL-4, IL-6, IL-17A and IL-12), one anti-inflammatory cytokine (IL-10), and five growth factors (GFs) (NGF-β, EGF, GDF-15, G-CSF and BMP-9) compared to both controls and ASD patients. Additionally, intrathecal infusion of autologous bone marrow mononuclear cells (BMMNCs) led to a slight decrease in TGF-β and GDF-15 levels in the CSF of ASD and CP patients, respectively. Our study provides new insights into the molecular composition of CSF in ASD and CP patients, with the potential to develop more effective diagnosis methods and improved treatment for these diseases.Clinical trial registration CSF samples used in this study are from clinical trials NCT03225651, NCT05307536, NCT02569775, NCT03123562, NCT02574923, NCT05472428 and previous reports [7, 9, 17-19].

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34. White SW, Schall C, Santos JD, Maddox BB, Hillier A, Klinger L, Pugliese C. Promoting Quality of Life: Suggestions for Mental Health Care Providers Working with Young Autistic Adults. Autism Adulthood;2023 (Dec 1);5(4):347-355.

There is a growing population of autistic adults in need of supports from a service delivery system that, at present, fails to accommodate their needs adequately and equitably. Unfortunately, there is a shortage of trained behavioral health service providers to meet the needs of young autistic adults. Quality of life (QoL), or one’s perception of, and satisfaction with, life in relation to held goals and expectations, has been identified as a key outcome of interest by autistic self-advocates. By supporting autistic clients to hone their strengths and interests, integrate various aspects of their identity, identify goals, and connect to appropriate resources, providers can promote clients’ self-knowledge and self-determination, in the service of improving QoL. In this Perspectives article, we offer concrete recommendations to mental health providers, including those who do not specialize in autism, with the goal of supporting implementation of evidence-based strategies that improve QoL and promote self-determination among young autistic clients. WHY IS THIS TOPIC IMPORTANT? Mental health care providers who are not autism specialists often feel unable to help autistic adult clients. However, relying on specialists to provide treatment for autistic adults can delay access to needed care. There is a need for well-trained clinicians and other service providers who can effectively work with autistic adults. WHAT IS THE PURPOSE OF THIS ARTICLE? Young autistic adults face many challenges related to transition into adulthood, including greater independence desires and external expectations. The early adult years are also a period of heightened risk for emerging mental health problems. The goal of this article is to offer guidance to mental health service providers on how to effectively support autistic adults, while respecting autonomy, identity, and diversity. The guidance we offer is drawn from research, clinical practice, and lived experience. WHAT PERSONAL OR PROFESSIONAL PERSPECTIVES DO THE AUTHORS BRING TO THIS TOPIC? In addition to an autistic adult and self-advocate, the authors are clinical researchers and clinicians with expertise in working with adolescents and adults as service providers. WHAT IS ALREADY KNOWN ABOUT THIS TOPIC? Although a wider range of effective intervention practices is needed, there are a growing number of scientifically based and respectful treatments now available to address mental health concerns and promote quality of life (QoL). Unfortunately, it is widely recognized that there is a shortage of providers who work with autistic clients. One reason for the shortage is that some highly capable and well-trained providers do not treat autistic clients. WHAT DO THE AUTHORS RECOMMEND? We recommend that providers focus on strengths, abilities, and potential rather than focus on perceived deficits when working with autistic clients, so that we as a society can better meet the service needs of the autistic community. Specifically, we encourage a focus on improving QoL, structuring services to focus on self-determination and empowerment, emphasizing intersectionality or existence of multiple identities with personal meaning, and helping clients and their families navigate service systems and supports that are available. HOW WILL THESE RECOMMENDATIONS HELP AUTISTIC ADULTS NOW OR IN THE FUTURE? By increasing the number of providers who can work effectively work with adult autistic clients, we can hopefully minimize delays in service delivery and increase availability of high-quality services. eng

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35. Wieting J, Jahn K, Bleich S, Frieling H, Deest M. A targeted long-read sequencing approach questions the association of OXTR methylation with high-functioning autism. Clin Epigenetics;2023 (Dec 20);15(1):195.

BACKGROUND: DNA sequence variation and altered epigenetic regulation of the oxytocin receptor gene (OXTR) have been implicated in autism and autistic-like behaviors. While previous studies have examined subsegments of OXTR, nanopore Cas9-targeted sequencing (nCATS) allows deep characterization of entire genes with simultaneous assessment of epigenetic 5-methylcytosine (5mC) modification and without the need for prior DNA amplification or bisulfite conversion. This pilot study uses an nCATS approach to sequence the entire OXTR gene and its regulatory construct and screen for 5mC modification to compare results between individuals with high-functioning autism (HFA) and neurotypical controls (NC). METHODS: Using DNA extracted from peripheral blood, OXTR (Hg38, chr3: 8750381-8770434, 20,054 base pairs) was analyzed by nCATS. 5mC modification probabilities were calculated and visualized across the gene and differential methylation analysis was performed. RESULTS: Twenty adults with HFA (10 males, 10 females) and 20 age- and sex-matched NC (± 5 years) were included. There were no apparent group differences in the entire OXTR gene sequence, except for the intron variant rs918316, which was clustered in the HFA group. However, differential methylation analysis did not reveal a single significant group-dependent differentially methylated site among the 412 CpG sites captured. LIMITATIONS: Limitations of this study include the small number of samples due to the pilot nature of the study, which particularly limits the relevance of the sequence variants found. It should also be noted that the use of peripheral blood material limits the ability to draw conclusions about central processes. CONCLUSIONS: Previous findings of autism-associated OXTR epigenetic alterations were not reproducible with our method. In our opinion, this may lead to a reconsideration of the relevance of altered methylation at individual OXTR CpG positions in autism research. However, given the pilot nature of the study, these results need to be replicated in independent cohorts and with larger sample sizes.

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36. Yang L, Chen F, He X, Tong Y, Li Q, Yang T, Peng R, Wang H, Shi Z. Global burden and inequality of autism spectrum disorders: Based on data from the 2019 Global Burden of Disease study. Prev Med Rep;2023 (Dec);36:102511.

It is unclear whether the health equity of autism spectrum disorders (ASDs) has changed in different years, regions, and gender. The aims of this study were to provide a comprehensive description of the ASDs burden and provide evidence for improvement in health policies regarding ASDs inequality. This study is a population-based cross-sectional study based on the Global Burden of Disease datasets 1990-2019. We collected detailed information on ASDs between 1990 and 2019 in 204 countries worldwide, derived from the Global Burden of Disease study in 2019. Burden was calculated in terms of the incidence, prevalence and years lived with disability (YLDs). Concentration curves and concentration indices were used to summarize the degree of income-related inequality in the burden of ASDs. The overall age-standardized incidence rate (ASIR), age-standardized prevalence rate (ASPR) and age-standardized YLDs rate (ASYR) of ASDs was 9.3 (95 %UI 7.7-11.1), 369.4 (95 %UI 305.9-441.2), 56.3 (95 %UI 36.8-81.5) per 100,000 people, respectively. The ASIR, ASPR and ASYR of ASDs affected three times as many males as females. The changing trends of age-standardized rates of ASDs showed that the ASIR of ASDs a slow growing trend globally. However, the ASPR and ASYR of ASDs showed a slow decreasing trend globally. All the concentration curves were below the line of equality and statistically significant. There was no significant difference in the age-standardized rate for different years in socio-demographic index-related inequality happened over 29 years (p > 0.05). The global burden of ASDs has remained higher in males and pro-rich, the income-related inequality tended not to change between 1990 and 2019.

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37. Zhao Y, Lu F, Wang X, Luo Y, Zhang R, He P, Zheng X. The economic burden of autism spectrum disorder with and without intellectual disability in China: A nationwide cost-of-illness study. Asian J Psychiatr;2023 (Dec 20);92:103877.

OBJECTIVE: The economic burden of autism spectrum disorder (ASD) on individuals, their families and society as a whole is poorly understood. Accurate figures are crucial for economic estimates and service planning. METHODS: The total lifetime individual costs and annual societal costs of ASD in China were estimated with a prevalence-based, gross cost of illness approach and data from multiple sources. The direct medical costs in outpatient and inpatient settings from the electronic health records (EHRs) of hospitals, and direct nonmedical costs from a national survey were included. The indirect costs were from both the national survey and the estimation using human capital methods. Age-specific lifetime incremental societal costs were measured. Comorbidity-related and unrelated costs were analyzed separately. RESULTS: The discounted lifetime cost for an individual with ASD in China was $2.65 million (at 2020 prices, $) for those without intellectual disability (ID) and $4.61 million (at 2020 prices, $) for those with ID. The total cost of ASD amounted to $41.8 billion in 2020. Productivity loss were major cost drivers for ASD individuals without ID. Direct nonmedical costs (rehabilitation or adult care costs etc.) were major drivers for ASD individuals with ID. In a lifetime course, the total annual costs for middle aged and elderly (>42 years) were highest, followed by transitional adults (18-29 years) and preschoolers, both for individuals with or without ID. The distribution of costs over the lifespan varied by the cost category. CONCLUSIONS: ASD imposes a substantial economic burden on families and health care systems. Sectors and services coordination should be given policy considerations.

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38. Zhou M, Larsson H, D’Onofrio BM, Landén M, Lichtenstein P, Pettersson E. Intergenerational Transmission of Psychiatric Conditions and Psychiatric, Behavioral, and Psychosocial Outcomes in Offspring. JAMA Netw Open;2023 (Dec 1);6(12):e2348439.

IMPORTANCE: Psychiatric conditions in parents are associated with many psychiatric and nonpsychiatric outcomes in offspring. However, it remains unknown whether this intergenerational transmission is attributable to broader psychopathology comorbidity or to specific conditions. OBJECTIVE: To estimate associations between general and specific psychopathology factors in parents and a wide range of register-based outcomes in their offspring. DESIGN, SETTING, AND PARTICIPANTS: This Swedish national register-based cohort study included 2 947 703 individuals born between 1970 and 2000 and followed up with participants through December 31, 2013. Statistical analysis was performed from October 2022 to October 2023. EXPOSURES: Hierarchical factor model consisting of 1 general and 3 specific psychopathology factors fit to 9 parental psychiatric diagnoses and violent criminal court convictions. MAIN OUTCOMES AND MEASURES: A total of 31 outcomes were measured in offspring and sorted into 6 broad clusters: psychotic-like outcomes, neurodevelopmental outcomes, internalizing outcomes, externalizing outcomes, behavior and accidents, and psychosocial outcomes. RESULTS: Of 2 947 703 individuals, 1 518 252 (51.5%) were male, and the mean (SD) age at the end of follow-up was 28.7 (8.9) years. The general psychopathology factor in parents was significantly associated with all 31 offspring outcomes (range: odds ratio [OR] for accidents, 1.08 [95% CI, 1.07-1.08] to OR for social welfare recipiency, 1.40 [95% CI, 1.39-1.40]), which means that children whose parents scored 1 SD above the mean on the general psychopathology factor had an 8% to 40% higher odds of different studied outcomes. The specific psychotic factor in parents was primarily associated with all 5 psychotic-like outcomes (range: OR for prescription of antiepileptics, 1.05 [95% CI, 1.04-1.06] to OR for schizophrenia, 1.25 [95% CI, 1.23-1.28]) and the specific internalizing factor in parents was primarily associated with all 6 internalizing outcomes (range: OR for prescription of anxiolytics, 1.10 [95% CI, 1.09-1.10] to OR for depression, 1.13 [95% CI, 1.12-1.13]) and all 6 neurodevelopmental outcomes (range: OR for intellectual disability, 1.02 [95% CI, 1.01-1.03] to OR for autism spectrum disorder, 1.10 [95% CI, 1.09-1.11]) in offspring. The specific externalizing factor in parents was associated with all 6 externalizing outcomes (range: OR for violent crimes, 1.21 [95% CI, 1.19-1.23] to OR for oppositional defiant disorder, 1.32 [95% CI, 1.32-1.33]) and all 6 internalizing outcomes (range: OR for obsessive-compulsive disorder, 1.01 [95% CI, 1.00-1.02] to OR for posttraumatic stress disorder, 1.13 [95% CI, 1.12-1.13]) in offspring. CONCLUSIONS AND RELEVANCE: This cohort study of the Swedish population suggests that the intergenerational transmission of psychiatric conditions across different types of spectra may largely be attributable to a parental general psychopathology factor, whereas specific factors appeared to be primarily responsible for within-spectrum associations between parents and their offspring. Professionals who work with children (eg, child psychologists, psychiatrists, teachers, and social workers) might benefit from taking the total number of parental psychiatric conditions into account, regardless of type, when forecasting child mental health and social functions.

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