1. Amin S, Ruban-Fell B, Newell I, Evans J, Vyas K, Nortvedt C, Chin RF. Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex. Orphanet J Rare Dis;2024 (Feb 26);19(1):89.

BACKGROUND: Rett syndrome (RTT) and tuberous sclerosis complex (TSC) are two rare disorders presenting with a range of different epileptic seizures. Seizure management requires careful therapy selection, thereby necessitating development of high-quality treatment guidelines. This targeted literature review (TLR) aimed to characterise country-specific and international treatment guidelines available for pharmacological management of seizures in RTT and TSC. METHODS: A TLR was performed between 25-Jan and 11-Mar 2021. Manual searches of online rare disease and guideline databases, and websites of national heath technology assessment bodies were conducted for the following countries: Australia, Canada, France, Germany, Israel, Italy, Japan, Spain, Switzerland, UK, and US as defined by pre-specified eligibility criteria. Search terms were developed for each condition and translated into local languages where appropriate. Eligible publications were defined as guidelines/guidance reporting pharmacological management of seizures in patients with RTT and TSC. Guideline development methodology, geographical focus, author information and treatment recommendations were extracted from guidelines. An author map was generated using R version 3.5.1 to visualise extent of collaboration between authors. RESULTS: 24 total guidelines were included, of which three and six contained only recommendations for RTT and TSC, respectively (some provided recommendations for ≥ 1 condition). Guideline development processes were poorly described (50% [12 guidelines] had unclear/absent literature review methodologies); reported methodologies were variable, including systematic literature reviews (SLRs)/TLRs and varying levels of expert consultation. Most (83% [20/24]) were country-specific, with guideline authors predominantly publishing in contained national groups; four guidelines were classified as ‘International,’ linking author groups in the US, UK, Italy and France. High levels of heterogeneity were observed in the availability of treatment recommendations across indications, with 13 and 67 recommendations found for RTT and TSC, respectively. For RTT, all treatment recommendations were positive and sodium valproate had the highest number of positive recommendations (Khwaja, Sahin (2011) Curr Opin Pediatr 23(6):633-9). All TSC treatments (21 medications) received either exclusively negative (National Organization for Rare Disorders (2019)) or positive (Chu-Shore et al. (2010) Epilepsia 51(7):1236-41) recommendations; vigabatrin received the highest number of positive recommendations (Kaur, Christodoulou (2019)). CONCLUSIONS: This review highlights the need for the development of international high-quality and comprehensive consensus-based guidance for the management of seizures with pharmacological therapy in RTT and TSC. TRIAL REGISTRATION: Not applicable.

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2. Balt E, Mérelle S, Popma A, Creemers D, Heesen K, van Eijk N, van den Brand I, Gilissen R. Sociodemographic and psychosocial risk factors of railway suicide a mixed-methods study combining data of all suicide decedents in the Netherlands with data from a psychosocial autopsy study. BMC Public Health;2024 (Feb 26);24(1):607.

BACKGROUND: Railway suicide has profound implications for the victims and their family, and affects train drivers, railway personnel, emergency services and witnesses. To inform a multilevel prevention strategy, more knowledge is required about psychosocial and precipitating risk factors of railway suicide. METHODS: Data from Statistics Netherlands of all suicides between 2017 and 2021 (n = 9.241) of whom 986 died by railway suicide and interview data from a psychosocial autopsy of railway suicide decedents (n = 39) were integrated. We performed logistic regression analyses to identify sociodemographic predictors of railway suicide compared to other methods of suicide. The Constant Comparative Method was subsequently employed on interview data from the psychosocial autopsy to identify patterns in psychosocial risk factors for railway suicide. RESULTS: The strongest predictors of railway suicide compared to other suicide methods were young age (< 30 years old), native Dutch, a high educational level, living in a multi-person household (especially living with parents or in an institution), living in a rural area and a high annual household income of > 150.000 euros. Several subgroups emerged in the psychosocial autopsy interviews, which specifically reflect populations at risk of railway suicide. These subgroups were [1] young adult males with autism spectrum disorder who strived for more autonomy and an independent life, [2] young adult females with persistent suicidal thoughts and behaviours, [3] middle-aged males with a persistent mood disorder who lived with family and who faced stressors proximal to the suicide in personal and professional settings, [4] male out-of-the-blue suicides and [5] persons with psychotic symptoms and a rapid deterioration. CONCLUSIONS: based on our findings we propose and discuss several recommendations to prevent railway suicide. We must continue to invest in a safe railway environment by training personnel and installing barriers. Additionally, we should adopt prevention strategies that align the needs of subgroups at increased risk, including young females who have attempted other methods of suicide and young males with autism spectrum disorder. Future research should determine the cost-effectiveness and feasibility of low-maintenance, automated interventions near crossings and psychiatric facilities.

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3. Barón-Mendoza I, Mejía-Hernández M, Hernández-Mercado K, Guzmán-Condado J, Zepeda A, González-Arenas A. Altered hippocampal neurogenesis in a mouse model of autism revealed by genetic polymorphisms and by atypical development of newborn neurons. Sci Rep;2024 (Feb 26);14(1):4608.

Individuals with autism spectrum disorder (ASD) often exhibit atypical hippocampal anatomy and connectivity throughout their lifespan, potentially linked to alterations in the neurogenic process within the hippocampus. In this study, we performed an in-silico analysis to identify single-nucleotide polymorphisms (SNPs) in genes relevant to adult neurogenesis in the C58/J model of idiopathic autism. We found coding non-synonymous (Cn) SNPs in 33 genes involved in the adult neurogenic process, as well as in 142 genes associated with the signature genetic profile of neural stem cells (NSC) and neural progenitors. Based on the potential alterations in adult neurogenesis predicted by the in-silico analysis, we evaluated the number and distribution of newborn neurons in the dentate gyrus (DG) of young adult C58/J mice. We found a reduced number of newborn cells in the whole DG, a higher proportion of early neuroblasts in the subgranular layer (SGZ), and a lower proportion of neuroblasts with morphological maturation signs in the granule cell layer (GCL) of the DG compared to C57BL/6J mice. The observed changes may be associated with a delay in the maturation trajectory of newborn neurons in the C58/J strain, linked to the Cn SNPs in genes involved in adult hippocampal neurogenesis.

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4. Cashin A, Morphet J, Wilson NJ, Pracilio A. Barriers to communication with people with developmental disabilities: A reflexive thematic analysis. Nurs Health Sci;2024 (Mar);26(1):e13103.

People with Intellectual Disability and/or autism internationally experience some of the worst health outcomes of any population group. Registered nurses have been identified as having educational deficits in this domain, which include knowledge of adjustments to communication. This study aimed to explore perceived barriers to communication with people with Intellectual Disability and/or autism. A thematic analysis of data from an open-ended free-text survey question exploring barriers to communicating in a cross-sectional survey of 279 Australian registered nurses conducted in 2020 was undertaken. Six interrelated themes were identified. Increased educational content in undergraduate and postgraduate level nursing courses is indicated. The findings identify the benefit of educational design based on the foundation of understanding the diversity in thinking and information processing represented by the forms of neurodiversity in Intellectual Disability and Autism Spectrum Disorder.

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5. Davy G, Barbaro J, Unwin K, Clark M, Jellett R, Date P, Muniandy M, Dissanayake C. Leisure, community, workforce participation and quality of life in primary and secondary caregivers of autistic children. Autism Res;2024 (Feb 27)

Parents of Autistic children often modify their participation in leisure, social, and employment activities to meet the caregiving needs of their child. However, few studies have examined the impact this has on caregiver quality of life (QoL). The aim in the current study was to examine the role of participation in a range of activities on QoL amongst primary and secondary caregivers of school-aged Autistic children. Eighty-eight primary (93% mothers) and 63 secondary (91% fathers) caregivers of Autistic children (aged 7- to 12-years) participated in this cross-sectional study, with time pressure, participation, social support, parenting stress, and QoL measured via an online questionnaire. Compared to secondary caregivers, primary caregivers reported fewer employment hours, increased time pressure, less participation in desired activities, and higher perceived responsibility of domestic and child-rearing tasks. Similar levels of leisure frequency, parenting stress, and QoL were identified by both caregivers. Hierarchical regression revealed caregiver participation as important for QoL in both primary and secondary caregivers. However, when measures of caregiver well-being were added to the model, the unique contribution of participation to QoL was reduced, particularly for secondary caregivers. Overall, the findings demonstrate that despite differences in caregiver roles and responsibilities, participation in meaningful activities was important for QoL in all caregivers.

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6. de Hoyos L, Barendse MT, Schlag F, van Donkelaar MMJ, Verhoef E, Shapland CY, Klassmann A, Buitelaar J, Verhulst B, Fisher SE, Rai D, St Pourcain B. Structural models of genome-wide covariance identify multiple common dimensions in autism. Nat Commun;2024 (Feb 27);15(1):1770.

Common genetic variation has been associated with multiple phenotypic features in Autism Spectrum Disorder (ASD). However, our knowledge of shared genetic factor structures contributing to this highly heterogeneous phenotypic spectrum is limited. Here, we developed and implemented a structural equation modelling framework to directly model genomic covariance across core and non-core ASD phenotypes, studying autistic individuals of European descent with a case-only design. We identified three independent genetic factors most strongly linked to language performance, behaviour and developmental motor delay, respectively, studying an autism community sample (N = 5331). The three-factorial structure was largely confirmed in independent ASD-simplex families (N = 1946), although we uncovered, in addition, simplex-specific genetic overlap between behaviour and language phenotypes. Multivariate models across cohorts revealed novel associations, including links between language and early mastering of self-feeding. Thus, the common genetic architecture in ASD is multi-dimensional with overarching genetic factors contributing, in combination with ascertainment-specific patterns, to phenotypic heterogeneity.

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7. Gowen E, Edmonds E, Poliakoff E. Motor imagery in autism: a systematic review. Front Integr Neurosci;2024;18:1335694.

INTRODUCTION: Motor Imagery (MI) is when an individual imagines performing an action without physically executing that action and is thought to involve similar neural processes used for execution of physical movement. As motor coordination difficulties are common in autistic individuals it is possible that these may affect MI ability. The aim of this systematic review was to assess the current knowledge around MI ability in autistic individuals. METHODS: A systematic search was conducted for articles published before September 2023, following PRISMA guidance. Search engines were PsycINFO, PubMed, Web of Science, Scopus, Wiley Online Library and PsyArXiv. Inclusion criteria included: (a) Original peer-reviewed and pre-print publications; (b) Autistic and a non-autistic group (c) Implicit or explicit imagery tasks (d) Behavioral, neurophysiological or self-rating measures, (e) Written in the English language. Exclusion criteria were (a) Articles only about MI or autism (b) Articles where the autism data is not presented separately (c) Articles on action observation, recognition or imitation only (d) Review articles. A narrative synthesis of the evidence was conducted. RESULTS: Sixteen studies across fourteen articles were included. Tasks were divided into implicit (unconscious) or explicit (conscious) MI. The implicit tasks used either hand (6) or body (4) rotation tasks. Explicit tasks consisted of perspective taking tasks (3), a questionnaire (1) and explicit instructions to imagine performing a movement (2). A MI strategy was apparent for the hand rotation task in autistic children, although may have been more challenging. Evidence was mixed and inconclusive for the remaining task types due to the varied range of different tasks and, measures conducted and design limitations. Further limitations included a sex bias toward males and the hand rotation task only being conducted in children. DISCUSSION: There is currently an incomplete understanding of MI ability in autistic individuals. The field would benefit from a battery of fully described implicit and explicit MI tasks, conducted across the same groups of autistic children and adults. Improved knowledge around MI in autistic individuals is important for understanding whether MI techniques may benefit motor coordination in some autistic people.

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8. Gunnarsson AB, Aurin IE, Holmberg S. Being in a meaningful context. Nature and animal-assisted activities as perceived by adults with autism. Aust Occup Ther J;2024 (Feb 27)

INTRODUCTION: Animal-assisted and nature-based interventions in psychosocial treatment for various groups of clients have been studied internationally. However, there is little knowledge about how young adults with autism experience participation in such types of interventions. This clinical study aimed to describe the feasibility of animal-assisted and nature-based activities on a farm as a complementary intervention for young adults with autism and social withdrawal. METHODS: The participants were aged 18-30 years, diagnosed with autism and social withdrawal, with no organised occupation during the previous year. Eleven of 13 participants completed a 12-week intervention in small groups. They took part in interviews before and after, which focused on their current life situation and expectations about, and experiences of the intervention. The feasibility was described in terms of participants’ characteristics, attendance, and their experiences of participating in the activity. Data were analysed with descriptive statistics and qualitative content analysis. CONSUMER AND COMMUNITY INVOLVEMENT: The intervention was formed in collaboration with participating supervisors, ordinary clinical staff, and a young woman with a user perspective. FINDINGS: The level of feasibility was found to be high. The mean participation rate during the activity days was 75% and varied from 50 to 100%. The analysis of the participants’ experiences from the activity generated three categories, « Being in a meaningful context », « Creating a comfort zone » and « Developing structure in everyday life », and each of these included sub-categories. CONCLUSION: The main categories revealed a dynamic process based in meaningfulness, comfort and structure in everyday life. The positive experiences of undemanding activities, emotional relationships and non-verbal communication with the horses were prominent and might facilitate the development of social interaction. However, the intervention’s timeframe of 12 weeks was experienced as too short for long-lasting change.

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9. Imam B, Rahmatinia M, Shahsavani A, Khodagholi F, Hopke PK, Bazazzpour S, Hadei M, Yarahmadi M, Abdollahifar MA, Torkmahalleh MA, Kermani M, Ilkhani S, MirBehbahani SH. Retraction Note: Autism-like symptoms by exposure to air pollution and valproic acid-induced in male rats. Environ Sci Pollut Res Int;2024 (Feb 27)

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10. Li H, Cui J, Hu C, Li H, Luo X, Hao Y. Identification and Analysis of ZIC-Related Genes in Cerebellum of Autism Spectrum Disorders. Neuropsychiatr Dis Treat;2024;20:325-339.

OBJECTIVE: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with significant genetic heterogeneity. The ZIC gene family can regulate neurodevelopment, especially in the cerebellum, and has been implicated in ASD-like behaviors in mice. We performed bioinformatic analysis to identify the ZIC gene family in the ASD cerebellum. METHODS: We explored the roles of ZIC family genes in ASD by investigating (i) the association of ZIC genes with ASD risk genes from the Simons Foundation Autism Research Initiative (SFARI) database and ZIC genes in the brain regions of the Human Protein Atlas (HPA) database; (ii) co-expressed gene networks of genes positively and negatively correlated with ZIC1, ZIC2, and ZIC3, Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment, and receiver operating characteristic (ROC) curve analysis of genes in these networks; and (iii) the relationship between ZIC1, ZIC2, ZIC3, and their related genes with cerebellar immune cells and stromal cells in ASD patients. RESULTS: (i) ZIC1, ZIC2, and ZIC3 were associated with neurodevelopmental disorders and risk genes related to ASD in the human cerebellum and (ii) ZIC1, ZIC2, and ZIC3 were highly expressed in the cerebellum, which may play a pathogenic role by affecting neuronal development and the cerebellar internal environment in patients with ASD, including immune cells, astrocytes, and endothelial cells. (iii) OLFM3, SLC27A4, GRB2, TMED1, NR2F1, and STRBP are closely related to ZIC1, ZIC2, and ZIC3 in ASD cerebellum and have good diagnostic accuracy. (iv) ASD mice in the maternal immune activation model demonstrated that Zic3 and Nr2f1 levels were decreased in the immune-activated cerebellum. CONCLUSION: Our study supports the role of ZIC1, ZIC2, and ZIC3 in ASD pathogenesis and provides potential targets for early and accurate prediction of ASD.

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11. Lunsky Y, Lake J, Thakur A. The Power of Partnerships to Identify and Address Mental Health Concerns Experienced by Adults With Intellectual and Developmental Disabilities. Am J Intellect Dev Disabil;2024 (Mar 1);129(2):96-100.

There are significant research gaps with regard to understanding and addressing the mental health concerns of adults with intellectual and developmental disabilities (IDD) and their families. In this article, we reflect on research we have carried out about mental health and IDD prior to and during the pandemic in Ontario, Canada. We aim to address how partnering with people with IDD, family caregivers, service providers, and policy makers can help accelerate needed progress in this area. We conclude with some lessons learned during the pandemic about what to emphasize in building and maintaining such partnerships.

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12. Lyu K, Li J, Chen M, Li W, Zhang W, Hu M, Zhang Y, Feng X. A bibliometric analysis of autism spectrum disorder signaling pathways research in the past decade. Front Psychiatry;2024;15:1304916.

BACKGROUND: This study employs bibliometric methods to comprehensively understand the fundamental structure of research about Autism Spectrum Disorder (ASD) Signaling Pathways by examining key indicators such as nations, institutions, journals, authors, and keywords. METHODOLOGY: We utilized the WoScc database to retrieve literature relevant to ASD Signaling Pathways published between 2013 and 2023. Through visual analysis and tools like CiteSpace and VosViewer, we explored nations, institutions, journals, authors, and keywords, thereby constructing relevant networks. RESULTS: 26 The study encompasses 1,396 articles, revealing a consistent increase in publications. The United States, China, and Germany are leading nations in this literature. Regarding research institutions, the University of California system and Eric Klann have garnered significant attention due to their substantial contributions to the field of ASD Signaling Pathways. Most relevant research is published in the journal « Molecular Autism. » Research interests are concentrated across various themes, including « elevating neuronal β-catenin levels, » « Tunisian children, » « Fmr1 knockout (KO) mice, » « de novo mutations, » « autistic children, » « local translation, » « propionic acid-induced mouse models, » « neurosystems, » « glucose metabolism, » and « neuronal migration. » Future research may emphasize exploring aspects such as gut microbiota, genes, stress, maternal immune activation, memory, and neurodevelopmental disorders of ASD. CONCLUSION: This study, through bibliometric analysis of key indicators such as nations, institutions, journals, authors, and keywords, provides a comprehensive overview of the current state of research on ASD Signaling Pathways. These investigations predominantly focus on molecular mechanisms, animal model studies, population-based research, and the structure and function of neurosystems. Future research directions are also clearly proposed. First, in-depth research on the genes and neurodevelopmental disorders associated with ASD will continue to reveal the genetic basis and provide support for precise treatments. At the same time, attention to the gut microbiota will help explore its association with ASD, which may provide clues for new treatments. In addition, the relationship between stress and ASD will become the focus of research to understand better the emotional and behavioral characteristics of ASD patients in stressful situations. Maternal immune activation will also be further studied to explore how environmental factors influence the risk and development of ASD. Finally, a deeper understanding of the cognitive functions of patients with ASD, especially memory and learning, will help develop individualized treatment strategies to improve patients’ quality of life. These directions will work together and are expected to provide a more comprehensive understanding of Signaling Pathways research in ASD and provide new ideas and opportunities for future intervention and treatment.

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13. Muraškaitė I, Žardeckaitė-Matulaitienė K. The effect of autism phenotype and diagnosis disclosure on students’ desire for social distance from autistic peers. Autism;2024 (Feb 27):13623613241230128.

Autistic students experience loneliness, rejection from peers, which might negatively affect both their well-being, as well as academic results. Others have studied this topic, however, the existing research does not analyze the desire for social distance from autistic female students in higher education. The goal of this study was to evaluate whether the way autism is expressed and disclosing the autism diagnosis had an effect on students’ willingness to interact with autistic male and female students. We also analyzed participants’ knowledge about autism, contact with autistic people in the past and its pleasantness in relation to their willingness to interact with autistic students described in the scenarios of the present study. We found that students were less willing to interact with autistic male students compared to autistic female students, as well as with autistic students whose diagnosis was not disclosed compared to autistic students whose diagnosis was disclosed to the raters. In addition, students who reported more pleasant contact with autistic individuals in the past were more willing to socially interact with autistic students if their diagnosis was disclosed. Students with higher knowledge of autism expressed greater willingness to interact with autistic males and autistic students regardless of diagnosis disclosure. Findings suggest that autistic males and individuals who prefer not to disclose their diagnosis are more vulnerable to social exclusion. More subtle expressions of autism need to be researched further.

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14. Ohki CMY, Benazzato C, van der Linden V, França JV, Toledo CM, Machado RRG, Araujo DB, Oliveira DBL, Neris RS, Assunção-Miranda I, de Oliveira Souza IN, Nogueira CO, Leite PEC, van der Linden H, Figueiredo CP, Durigon EL, Clarke JR, Russo FB, Beltrão-Braga PCB. Zika virus infection impairs synaptogenesis, induces neuroinflammation, and could be an environmental risk factor for autism spectrum disorder outcome. Biochim Biophys Acta Mol Basis Dis;2024 (Feb 24):167097.

Zika virus (ZIKV) infection was first associated with Central Nervous System (CNS) infections in Brazil in 2015, correlated with an increased number of newborns with microcephaly, which ended up characterizing the Congenital Zika Syndrome (CZS). Here, we investigated the impact of ZIKV infection on the functionality of iPSC-derived astrocytes. Besides, we extrapolated our findings to a Brazilian cohort of 136 CZS children and validated our results using a mouse model. Interestingly, ZIKV infection in neuroprogenitor cells compromises cell migration and causes apoptosis but does not interfere in astrocyte generation. Moreover, infected astrocytes lost their ability to uptake glutamate while expressing more glutamate transporters and secreted higher levels of IL-6. Besides, infected astrocytes secreted factors that impaired neuronal synaptogenesis. Since these biological endophenotypes were already related to Autism Spectrum Disorder (ASD), we extrapolated these results to a cohort of children, now 6-7 years old, and found seven children with ASD diagnosis (5.14 %). Additionally, mice infected by ZIKV revealed autistic-like behaviors, with a significant increase of IL-6 mRNA levels in the brain. Considering these evidence, we inferred that ZIKV infection during pregnancy might lead to synaptogenesis impairment and neuroinflammation, which could increase the risk for ASD.

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15. Powell RM, Albert SM, Nthenge S, Mitra M. Family Caregivers’ Attitudes and Perspectives About the Sexual and Reproductive Health of Women With Intellectual and Developmental Disabilities: An Online Survey. Am J Intellect Dev Disabil;2024 (Mar 1);129(2):135-150.

Although sexual and reproductive health is critically important for women with intellectual and developmental disabilities (IDD), there is limited research elucidating the role of family caregivers in assisting women with IDD access sexual and reproductive health services and information. Understanding the family caregivers’ attitudes and perspectives is essential to improving access to sexual and reproductive health services and information for women with IDD. A cross-sectional online survey of family caregivers of women with IDD was administered between June and October 2018. Quantitative analysis was conducted for closed-ended responses, and qualitative analysis was conducted for open-ended responses. The analytic sample included 132 family caregivers. Most participants were parents and reported being closely involved in their family member’s access to sexual and reproductive health services and information. Although most participants expressed that sexual and reproductive health services and information are essential for women with IDD, qualitative analysis of participants’ open-ended responses revealed both supportive and restrictive attitudes and perspectives on sexual and reproductive health services and information for women with IDD. Supportive attitudes and perspectives included (1) « knowledge is power; » (2) supported decision-making; and (3) protection against sexual abuse. Restrictive attitudes and perspectives included (1) dependent on the individual; (2) lack of autonomy; and (3) placing responsibility on disability. Greater attention from policymakers and practitioners to systems-level changes, including universal and accessible sexual education for women with IDD, supported decision-making, and sexual abuse prevention measures, are urgently needed.

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16. Ramji AV, Runswick OR, Dommett EJ. Exercise Dependency and Overuse Injuries in Attention Deficit Hyperactivity Disorder. J Nerv Ment Dis;2024 (Mar 1);212(3):190-195.

Attention deficit hyperactivity disorder (ADHD) is a common condition, but current medications have limitations, pushing a drive for alternative approaches. Different exercise-focused approaches have shown promise, but concern has also been raised about individuals with ADHD showing greater risk of addiction, including exercise dependency. Using an online survey, we examined current exercise practices, including exercise dependency and the presence of overuse injury, which could result from overexercising, in 114 adults with ADHD. We found that most were regularly exercising. None were classified as exercise dependent, but 38.9% were deemed symptomatic nondependent. Hyperactive-impulsive symptoms were a predictor of the level of exercise withdrawal experienced, and the co-occurrence of autism spectrum disorder was associated with greater risk of overuse injuries. The data indicate that ADHD may confer some greater risk of exercise dependency, aligning with previous studies investigating other addictions and suggesting further research is critical.

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17. Ratanatharathorn A, Quan L, Koenen KC, Chibnik LB, Weisskopf MG, Slopen N, Roberts AL. Polygenic risk for major depression, attention deficit hyperactivity disorder, neuroticism, and schizophrenia are correlated with experience of intimate partner violence. Transl Psychiatry;2024 (Feb 26);14(1):119.

Research has suggested that mental illness may be a risk factor for, as well as a sequela of, experiencing intimate partner violence (IPV). The association between IPV and mental illness may also be due in part to gene-environment correlations. Using polygenic risk scores for six psychiatric disorders – attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), bipolar disorder (BPD), major depressive disorder (MDD), neuroticism, and schizophrenia-and a combined measure of overall genetic risk for mental illness, we tested whether women’s genetic risk for mental illness was associated with the experience of three types of intimate partner violence. In this cohort of women of European ancestry (N = 11,095), participants in the highest quintile of genetic risk for ADHD (OR range: 1.38-1.49), MDD (OR range: 1.28-1.43), neuroticism (OR range: (1.18-1.25), schizophrenia (OR range: 1.30-1.34), and overall genetic risk (OR range: 1.30-1.41) were at higher risk for experiencing more severe emotional and physical abuse, and, except schizophrenia, more severe sexual abuse, as well as more types of abuse and chronic abuse. In addition, participants in the highest quintile of genetic risk for neuroticism (OR = 1.43 95% CI: 1.18, 1.72), schizophrenia (OR = 1.33 95% CI: 1.10, 1.62), and the overall genetic risk (OR = 1.40 95% CI: 1.15, 1.71) were at higher risk for experiencing intimate partner intimidation and control. Participants in the highest quintile of genetic risk for ADHD, ASD, MDD, schizophrenia, and overall genetic risk, compared to the lowest quintile, were at increased risk for experiencing harassment from a partner (OR range: 1.22-1.92). No associations were found between genetic risk for BPD with IPV. A better understanding of the salience of the multiple possible pathways linking genetic risk for mental illness with risk for IPV may aid in preventing IPV victimization or re-victimization.

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18. Sudnawa KK, Chung WK. SPARKing New Insight Into Autism Across the Lifespan. Am J Intellect Dev Disabil;2024 (Mar 1);129(2):91-95.

Autism is heterogeneous at many levels, including clinical symptoms and etiology. A key strategy in studying heterogeneous conditions is having large enough sample sizes to stratify into smaller groups that are more homogeneous. SPARK and Simons Searchlight are large and growing research cohorts of individuals with autism in the United States and individuals with genetically defined neurodevelopmental conditions around the world, respectively. They both provide freely available phenotypic and genotypic data with the ability to re-contact participants through the research match program. Deep dives into each gene in Searchlight provide comprehensive natural history data to understand the differing clinical courses to inform proper clinical care, and work toward treatment for each condition. Moreover, pilots of genetically based newborn screening programs for neurogenetic disorders can provide opportunities for equitable and early diagnosis to try to improve outcomes with earlier interventions.

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19. Tian Y, Xiao X, Liu W, Cheng S, Qian N, Wang L, Liu Y, Ai R, Zhu X. TREM2 improves microglia function and synaptic development in autism spectrum disorders by regulating P38 MAPK signaling pathway. Mol Brain;2024 (Feb 26);17(1):12.

BACKGROUND: Autism spectrum disorder (ASD) encompasses a diverse range of neurodevelopmental disorders, but the precise underlying pathogenesis remains elusive. This study aim to explore the potential mechanism of TREM2 in regulating microglia function in ASD. MATERIALS AND METHODS: The offspring rat model of ASD was established through prenatal exposure to valproic acid (VPA), and the behavioral symptoms of the ASD model were observed. On postnatal day (PND) 7 and PND 28, the effects of prenatally exposure to VPA on synaptic development and microglia phenotype of offspring rats were observed. Primary microglia were cultured in vitro. Lentivirus and adenovirus were utilized to interfere with TREM2 and overexpress TREM2. RESULTS: Prenatally VPA exposure induced offspring rats to show typical ASD core symptoms, which led to abnormal expression of synapse-related proteins in the prefrontal cortex of offspring rats, changed the phenotype of microglia in offspring rats, promoted the polarization of microglia to pro-inflammatory type, and increased inflammatory response. The experimental results in vitro showed that overexpression of TREM2 could increase the expression of Gephyrin, decrease the content of CD86 protein and increase the content of CD206 protein. In addition, after the expression of TREM2 was interfered, the content of p-P38 MAPK protein increased and the content of p-ELK-1 protein decreased. CONCLUSION: The protective influence of TREM2 on the VPA-induced ASD model is attributed to its inhibition of the P38 MAPK pathway, this protective effect may be achieved by promoting the polarization of microglia to anti-inflammatory phenotype and improving the neuronal synaptic development.

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20. van der Cruijsen R, Begeer S, Crone EA. The role of autism and alexithymia traits in behavioral and neural indicators of self-concept and self-esteem in adolescence. Autism;2024 (Feb 27):13623613241232860.

Developing a positive view of the self is important for maintaining a good mental health, as feeling negative about the self increases the risk of developing internalizing symptoms such as feelings of depression and anxiety. Even though autistic individuals regularly struggle with these internalizing feelings, and both self-concept and internalizing feelings are known to develop during adolescence, there is a lack of studies investigating the development of positive self-concept and self-esteem in autistic adolescents. Here, we studied academic, physical, and prosocial self-concept as well as self-esteem in adolescent males with and without autism on both the behavioral and neural level. We additionally focused on similarities in one’s own and peers’ perspectives on the self, and we assessed a potential role of alexithymia (i.e. having trouble identifying and describing one’s feelings) in developing a more negative view of the self. Results showed that there were no group differences in self-esteem, self-concept, or underlying neural activation. This shows that autistic adolescent males use the same neural processes when they evaluate their traits. However, regardless of clinical diagnosis, a higher number of autism traits was related to a less positive physical and prosocial self-concept, whereas more difficulty identifying one’s feelings was related to lowered self-esteem and less activation in medial prefrontal cortex during self-evaluations. Therefore, in treatment of autistic adolescents with low self-esteem, it is important to take into account and possibly aim to improve alexithymic traits as well.

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21. Wu R, Leow K, Yu N, Rafter C, Rosenbaum K, A FdCH, White SJ. Evaluative contexts facilitate implicit mentalizing: relation to the broader autism phenotype and mental health. Sci Rep;2024 (Feb 26);14(1):4697.

One promising account for autism is implicit mentalizing difficulties. However, this account and even the existence of implicit mentalizing have been challenged because the replication results are mixed. Those unsuccessful replications may be due to the task contexts not being sufficiently evaluative. Therefore, the current study developed a more evaluative paradigm by implementing a prompt question. This was assessed in 60 non-autistic adults and compared with a non-prompt version. Additionally, parents of autistic children are thought to show a genetic liability to autistic traits and cognition and often report mental health problems, but the broader autism phenotype (BAP) is an under-researched area. Thus, we also aimed to compare 33 BAP and 26 non-BAP mothers on mentalizing abilities, autistic traits, compensation and mental health. Our results revealed that more evaluative contexts can facilitate implicit mentalizing in BAP and non-BAP populations, and thus improve task reliability and replicability. Surprisingly, BAP mothers showed better implicit mentalizing but worse mental health than non-BAP mothers, which indicates the heterogeneity in the broader autism phenotype and the need to promote BAP mothers’ psychological resilience. The findings underscore the importance of contexts for implicit mentalizing and the need to profile mentalizing and mental health in BAP parents.

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22. Wu YC, Qian X, Lee S, Johnson DR, Thurlow ML. Postschool Goal Expectations for Youth With Intellectual and Developmental Disabilities. Am J Intellect Dev Disabil;2024 (Mar 1);129(2):151-168.

Using National Longitudinal Transition Study 2012 data, this study explored parent and youth expectations in the areas of postsecondary education, employment, independent living, and financial independence. Compared to youth with other disabilities, youth with intellectual and developmental disabilities and their parents had much lower expectations for the four postschool goals, and parent expectations were much lower than youth’s own expectations. Also, youth’s race, along with their daily living skills and functional abilities, were positively associated with parent and youth expectations in several future goal areas. Our discussion highlights implications for improving the transition experiences of youth with intellectual and developmental disabilities.

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