1. Abd El-Raziq M, Meir N, Saiegh-Haddad E. Non-Word Repetition in Arabic-speaking children with and without Autism Spectrum Disorder (ASD): A closer look into accuracy and error patterns. Clin Linguist Phon;2024 (Sep 11):1-25.

Non-Word Repetition (NWR) tasks effectively identify language impairments and assess phonological skills across diverse populations and languages, including Arabic. Prior research revealed heterogeneity of performance in children with Autism Spectrum Disorder (ASD) on NWR tasks. The current study is the first to evaluate phonological skills of Palestinian-Arabic-speaking children with and without ASD, employing a Palestinian-Arabic NWR task. A total of 142 Palestinian-Arabic-speaking children, aged 5-11 participated in the study, including 75 children with Typical Language Development (TLD) and 67 children with ASD. The NWR task included 18 non-words of varying length (1-4 syllables) and complexity (with and without consonant clusters). Quantitative analysis examined the effects of length and phonological complexity on the NWR accuracy scores in children with TLD and ASD. Error pattern analysis accounting for phoneme and syllable substitutions/deletions/additions and lexicalisations aimed to shed light on the phonological representations of children with and without ASD. Within the ASD group, two subgroups emerged: 72% exhibited age-appropriate NWR performance, while 28% showed performance at-risk for phonological impairment. Non-word length, rather than complexity, significantly influenced the children’s performance. Consonant substitution was the most frequent error pattern across all groups. On the theoretical side, these findings extend cross-linguistic evidence of phonological skill heterogeneity in children with ASD to Arabic-speaking children. Additionally, they highlight an overall delayed but qualitatively similar pattern of phonological development in children with ASD. On the clinical side, results underscore the importance of comprehensive language assessment in children with ASD.

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2. Brown CE, Collins T, Foy RK, Bonish KE, Ramsey TE, Nowell KP, Bernardin CJ, Kanne SM. Correction: The How Rather than the What: A Qualitative Analysis of Modalities and Caregiver Descriptions of Special Interests in Autistic Youth. J Autism Dev Disord;2024 (Sep 11)

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3. David N, Rahlff P, König H, Dückert S, Gewohn P, Erik F, Vogeley K, Schöttle D, Konnopka A, Schulz H, Peth J. Barriers to healthcare predict reduced health-related quality of life in autistic adults without intellectual disability. Autism;2024 (Sep 11):13623613241275406.

Health-related quality of life reflects a person’s perspective on their well-being in physical, mental, social, work-related, and other aspects of health or life. Autistic adults typically report difficulties in many or all of these domains and, thus, often experience their health-related quality of life being reduced. Nonetheless, they do not obtain the professional support they need and report barriers to accessing or receiving appropriate healthcare. We know little about the impact of barriers to healthcare on health-related quality of life in autistic adults. In the present study, 311 autistic adults without intellectual disability in Germany completed an online survey on their current health-related quality of life and the number of barriers to healthcare they experience. In addition, they were asked about their personal and clinical background as well as about the amount of healthcare and support they recently received. We investigated how this information and, particularly, barriers to healthcare explained variations in individual levels of health-related quality of life. We found that barriers to healthcare, compared to most other variables, were a strong predictor of health-related quality of life: The more barriers autistic adults reported, the lower their experienced psychological and physical well-being. To our knowledge, this is the first paper to examine the relationship between barriers to healthcare and health-related quality of life in autism. Our results suggest that healthcare providers need to become aware of the barriers individuals with autism have in seeking and getting healthcare. Improved access to services might contribute to better health-related quality of life in autistic adults.

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4. García-Zambrano S, Pinto-Ocampo RH. How Many Autistic Children are there in Colombia? A Nationwide Examination of Autism Through Health System Data. J Autism Dev Disord;2024 (Sep 10)

PURPOSE: Accurate healthcare data is indispensable for monitoring the epidemiology of autism spectrum disorders (ASD) and improving the quality of care for individuals on the spectrum. In Colombia, the Ministry of Health has developed the social protection information system (SISPRO) as a comprehensive registry, drawing data from the healthcare system with close to universal coverage (approximately 95%). This study utilizes data gathered by SISPRO to estimate the prevalence and specific characteristics of autistic children registered between January 2020 and December 2022. METHOD: A descriptive epidemiological approach was employed, using the International Statistical Classification of Diseases as search terms for ASD within the SISPRO dataset. RESULTS: The study revealed a prevalence of 13.788 cases per 10,000 children in 2022 among aged 4 to 14. Regarding healthcare coverage types in 2022, the majority of autistic children served were under the contributory regime (68.28%), followed by the subsidized regime (25.36%). Geographic analysis indicated a non-uniform distribution of ASD prevalence in Colombia. The regions with the highest GDP, such as Antioquia, Atlántico, Bogotá, Cundinamarca, and Valle del Cauca, exhibited the highest prevalence (M = 17.90; SD = 14.3). In contrast, areas with the lowest GDP, including Amazonas, Guainía, Vaupés, Vichada, and Guaviare, showed the lowest prevalence among children (M = 2.6; SD = 2.5). CONCLUSION: The estimation of ASD prevalence in Colombia represents an ongoing initiative to inform public policy actions. During the COVID-19 pandemic, there was a decrease in the number of autistic children served by the healthcare sector; however, the prevalence of ASD changed to higher levels in 2022. These findings contribute to strategies aimed at improving the quality of life for autistic individuals and mitigating the economic burden on their families.

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5. Gray HL, Jimenez C, Pang T, Kim E, Shaffer-Hudkins E, Agazzi H, Rosado A, Klinger A, Young C, Kandil J, Won S, Perez A, Sayre WD, Waters KA, Miltenberger RG, Stern M. Recruitment feasibility and dietary and behavioral patterns in toddlers with ASD: Preliminary results from the Autism Eats program. Contemp Clin Trials;2024 (Sep 11);146:107688.

BACKGROUND: Problematic mealtime behaviors and inadequate diet quality are pressing concerns for children with autism spectrum disorder (ASD). This study aimed to evaluate recruitment feasibility and baseline outcomes of the Autism Eats program for children under 3 years with ASD. METHODS: Recruitment feasibility was assessed through reach and participation rates. The Healthy Eating Index (HEI-2015) scores were calculated from 3-day food records. Problematic mealtime behaviors were assessed with the Brief Autism Mealtime Behavior Inventory. Parental feeding practices were assessed using the Child Feeding Questionnaire. Anthropometric measurements of children and parents were taken. Weight-for-length percentiles were calculated based on the CDC growth charts. Descriptive statistics, one-sample t-tests, and Spearman’s rho correlations were used for data analysis. RESULTS: Of the contacted dyads, 74 % agreed to participate. All 51 enrolled dyads completed baseline survey (100 %), and 98 % completed 3-day food records and anthropometric measurements. Significantly higher problematic mealtime behaviors were observed, compared to the reference (e.g., Total score 55.7 vs. 32.5; p < .001). Children with ASD exhibited lower HEI-2015 scores than national data (e.g., Total score 59 vs. 62). A large proportion of the children (29 %) had a weight-for-length ≥ 95th percentile. Several significant associations were found among mealtime behaviors, diet quality, parental feeding practices, and weight status. CONCLUSION: Recruitment was highly feasible, and the findings suggest that early nutrition intervention may hold promise in addressing problematic mealtime behaviors and promoting healthier dietary habits in young children with ASD. CLINICAL TRIAL REGISTRATION: This trial has been registered at www. CLINICALTRIALS: gov (NCT05194345).

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6. Halladay A, Croffie J, Dallman J, Grabenstatter H, Holingue C, Madgett K, Margolis KG, Motil KJ, Jimenez-Gomez A, Ferguson BJ, Moshiree B, Still K, Williams K, Upp GR, Bennett W. Conference proceedings: Inaugural meeting of the consortium for autism, genetic neurodevelopmental disorders, and digestive diseases. J Pediatr Gastroenterol Nutr;2024 (Sep 11)

OBJECTIVES: Individuals with neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), often experience a higher prevalence of gastrointestinal (GI) symptoms but have complex medical and behavioral comorbidities that make diagnosis and treatment difficult. A multi-stakeholder conference was convened to (a) determine patient and family experiences related to GI symptoms in NDDs, (b) review the clinicians’ and researchers’ perspectives, and (c) determine actionable steps for future research. METHODS: The Consortium for Autism, Neurodevelopmental Disorders and Digestive Diseases (CANDID; www.candidgi.com) virtually over 2 days in 2022 and consisted of four key activities: (1) an electronic family survey to assess underlying NDDs and GI symptoms, (2) a session focused on family perspectives, (3) review current clinical care and research, and (4) discussion to identify key next steps. Survey results were obtained electronically via the REDCap platform, and descriptive statistics were generated. The sessions were recorded, and themes were identified. RESULTS: The pre-conference survey ran for ~2 months and 739 families provided responses, with 634 completing all items. 83% had a child with an NDD under age 18, and most patients were White (85%) and non-Hispanic (87%). Constipation (80%), gastrointestinal reflux disease (51%), and bloating (49%) were the most frequently reported symptoms. Families gave unstructured feedback that the measures used in the surveys were often difficult to answer for patients with NDDs or who were nonspeaking. Family and clinical/scientific sessions identified several common themes, including (1) the need for less invasive diagnostic modalities, (2) the need to validate or adapt existing diagnostic measures (e.g., the Rome IV criteria) and outcome assessments, and (3) the need for enhanced attention to parent and caregiver input in treatment plans. CONCLUSIONS: Those providing care to children with NDDs, especially those with communication and cognitive challenges, should be aware of the differing needs in this community and consider family perspectives in managing, treating, and measuring GI issues. Future research should focus on adapting or creating diagnostic and research measures for those with NDDs, developing new diagnostic methods to account for diversity in neurodevelopment and communication, and improving methods for family and caregiver engagement in the care of GI disorders.

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7. Harbin SG, Hugh ML, Tagavi D, Bravo A, Joshi M, Kiche S, Michael OG, Locke J. In an Imperfect World: Barriers and Facilitators to Educators’ Evidence-Based Practice Use for Elementary-Aged Autistic Students in Inclusive Settings. J Autism Dev Disord;2024 (Sep 11)

Educators’ use of evidence-based practices (EBP) provides positive outcomes for autistic students in multiple areas of learning (e.g., peer interactions and academic skills) and may promote access and participation in general educational settings. However, many teachers report limited use of EBPs for their autistic students, with inconsistent fidelity. This study sought to understand barriers and facilitators educators identify to implementing EBPs with autistic students in general education classrooms. To understand educators’ perspectives and experiences, we conducted a qualitative study with 81 educators who serve elementary-aged autistic students in one state. In response to interview questions based on the Consolidated Framework for Implementation Research framework, educators reported on multiple factors, including the general education environment, access to resources, training in EBPs, and professional collaboration. Implications for practice, training, and research are discussed. Specifically, we address educators’ need for increased training and the availability of educator resources.

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8. Herdi O, Yıldırım F. Sex-Specific Correlations Between Misophonia Symptoms and ADHD, OCD, and Autism-Related Traits in Adolescent Outpatients. Noro Psikiyatr Ars;2024;67(3):248-254.

INTRODUCTION: Misophonia, not yet classified within diagnostic manuals, triggers strong emotional, physiological, and behavioural reactions to specific sounds. This study examines its correlations with attention deficient/hyperactivity disorder (ADHD) traits, obsessive-compulsive traits, and autism-related traits in adolescent outpatients with non-psychotic disorders. We hypothesize a positive association between misophonic symptoms and these psychological traits. METHODS: This study was conducted at a Turkish psychiatric centre from January to July 2023 in adolescents aged 12-18. Parents completed the Autism Spectrum Quotient-Adolescent (AQ-Adolescent), and Conner’s ADHD Parent Rating Scale-48 (CPRS-48), while the adolescent filled out the Misophonic Symptom Checklist (MCL) and Maudsley Obsessive-Compulsive Inventory (MOCI). Using non-parametric statistical tests, the research found associations between the scales, with a total sample size of 348. RESULTS: Females had higher scores on MCL. There is a negative correlation between AQ-Adolescent and MCL, positive correlations between MCL-MOCI and MCL-CPRS-48. In gender specific correlation analysis found that AQ-Adolescent and MCL were negatively correlated, MCL and MOCI were positively correlated in males. MCL, CPRS-48 and MOCI were positively correlated in females. In regression AQ-Adolescent, MOCI and CPRS-48 significantly predicted the levels of MCL. CONCLUSIONS: Our study unveils a link between ADHD, obsessive-compulsive symptoms, autistic traits, and misophonic symptoms in adolescent psychiatric outpatients, highlighting sex differences.

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9. Kassee C, Jachyra P, Mahalingam V, Tint A, Lin HY, Ameis SH, Di Martino A, Lunsky Y, Lai MC. Negative and Positive Experiences During the COVID-19 Pandemic in Canadians With Developmental Disabilities: A One-Year Ontario-Based Survey. J Appl Res Intellect Disabil;2024 (Nov);37(6):e13300.

PURPOSE: Understanding the experiences of people with developmental disabilities during the initial period of COVID-19 pandemic. METHODS: Individuals with developmental disabilities and their caregivers completed baseline and up to five follow-up online surveys using the CRISIS-AFAR measures, between July 2020 and September 2021. We used qualitative (thematic analysis) and quantitative (MANOVA) analytic methods. RESULTS: One hundred and eighteen participants (64 caregivers on individuals 6-62 years, 54 self-reporting individuals aged 17-55 years) completed baseline survey; 46 participants (23 caregivers, 23 self-reporting adults) completed ≥1 follow-up. Qualitative themes included uncertainty, and negative and positive influences on behaviours and routines, daily life and mental wellness. Those experiencing positive impacts did not stably perceive so longitudinally. CONCLUSIONS: Despite both negative and positive influences on individuals with developmental disabilities and their families, the prolonged pandemic had wide-ranging repercussions. Emergency preparedness planning should consider the disruptive effects of public health measures on routine and support for this vulnerable population.

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10. Kim JH, Bae HG, Wu WC, Nip K, Gould E. SCN2A-linked myelination deficits and synaptic plasticity alterations drive auditory processing disorders in ASD. Res Sq;2024 (Aug 28)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by complex sensory processing deficits. A key unresolved question is how alterations in neural connectivity and communication translate into the behavioral manifestations seen in ASD. Here, we investigate how oligodendrocyte dysfunction alters myelin plasticity and neuronal activity, leading to auditory processing disorder associated with ASD. We focus on the SCN2A gene, an ASD-risk factor, to understand its role in myelination and neural processing within the auditory nervous system. Through transcriptional profiling, we identified alterations in the expression of myelin-associated genes in Scn2a conditional knockout mice, highlighting the cellular consequences engendered by Scn2a deletion in oligodendrocytes. The results reveal a nuanced interplay between oligodendrocytes and axons, where Scn2a deletion causes alterations in the intricate process of myelination. This disruption instigates changes in axonal properties, presynaptic excitability, and synaptic plasticity at the single cell level. Furthermore, oligodendrocyte-specific Scn2a deletion compromises the integrity of neural circuitry within auditory pathways, leading to auditory hypersensitivity. Our findings reveal a novel pathway linking myelin deficits to synaptic activity and sensory abnormalities in ASD.

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11. Micai M, Caruso A, Gila L, Campanella F, Colombi C, Funari F, Scordino V, Sogos C, Veronesi C, Zili V, Fulceri F, Scattoni ML. Effectiveness, implementation settings, and research priorities of telemedicine-delivered interventions for children and adolescents with autism spectrum disorder: A systematic review. Neurosci Biobehav Rev;2024 (Nov);166:105875.

This systematic review aims to examine evidence on telemedicine-delivered interventions for autistic children and adolescents, considering diverse approaches, settings, and modalities used to address core symptoms and co-occurring conditions. A comprehensive search strategy consulted PubMed and PsycInfo databases from inception to March 2023. PROSPERO registration: CRD42023404111. Each work was screened, and two blind authors extracted data. Out of 6010 studies, 19 publications with 366 participants (305 carers and 61 autistic children/adolescents) were included. Combined findings from observational and experimental studies indicate telemedicine-delivered interventions are comparable in effectiveness to traditional « in-person » treatments and involve lower costs. Tele-intervention outcomes show promise in facilitating interventions, actively engaging parents, and generalizing the socio-communicative behaviors of children. While the enforced adoption of telemedicine during the COVID-19 pandemic has prompted clinicians to assess its role in the field of autism, a comprehensive understanding of its efficacy, benefits, and associated costs has yet to be fully established. Future studies should prioritize rigorous experimental methodologies, including subgroup analyses based on child/adolescent and family characteristics, aiding intervention implementation.

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12. Ren W, Yu S, Guo K, Lu C, Zhang YQ. Disrupted Human-Dog Interbrain Neural Coupling in Autism-Associated Shank3 Mutant Dogs. Adv Sci (Weinh);2024 (Sep 11):e2402493.

Dogs interact with humans effectively and intimately. However, the neural underpinnings for such interspecies social communication are not understood. It is known that interbrain activity coupling, i.e., the synchronization of neural activity between individuals, represents the neural basis of social interactions. Here, previously unknown cross-species interbrain activity coupling in interacting human-dog dyads is reported. By analyzing electroencephalography signals from both dogs and humans, it is found that mutual gaze and petting induce interbrain synchronization in the frontal and parietal regions of the human-dog dyads, respectively. The strength of the synchronization increases with growing familiarity of the human-dog dyad over five days, and the information flow analysis suggests that the human is the leader while the dog is the follower during human-dog interactions. Furthermore, dogs with Shank3 mutations, which represent a promising complementary animal model of autism spectrum disorders (ASD), show a loss of interbrain coupling and reduced attention during human-dog interactions. Such abnormalities are rescued by the psychedelic lysergic acid diethylamide (LSD). The results reveal previously unknown interbrain synchronizations within an interacting human-dog dyad which may underlie the interspecies communication, and suggest a potential of LSD for the amelioration of social impairment in patients with ASD.

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13. Selick A, Volpe T, Morris S, Lunsky Y. Addressing Delayed Hospital Discharges for Patients With Intellectual and Developmental Disabilities and a Mental Illness. Psychiatr Serv;2024 (Sep 11):appips20240177.

Adults with intellectual and developmental disabilities (IDD) who also have a co-occurring mental illness are almost five times as likely to experience a delayed hospital discharge as adults with mental illness only. Such delays occur when a patient no longer requires hospital-level care but cannot be discharged, often because of a lack of appropriate postdischarge settings. Delayed discharges contribute to poor patient outcomes, increased system costs, and delayed access to care. Recently, practice guidance was developed in Canada, identifying 10 components of successful transitions for this population. Core to this guidance is a patient-centered, cross-sectoral approach, including the patient, family, hospital team, community health care providers, and IDD providers.

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14. Soleimanpour S, Abavisani M, Khoshrou A, Sahebkar A. Probiotics for autism spectrum disorder: An updated systematic review and meta-analysis of effects on symptoms. J Psychiatr Res;2024 (Sep 11);179:92-104.

BACKGROUND: Recent researches highlighted the significant role of the gut-brain axis and gut microbiota in autism spectrum disorder (ASD), a neurobehavioral developmental disorder characterized by a variety of neuropsychiatric and gastrointestinal symptoms, suggesting that alterations in the gut microbiota may correlate with the severity of ASD symptoms. Therefore, this study was designed to conduct a comprehensive systematic review and meta-analysis of the effectiveness of probiotic interventions in ameliorating behavioral symptoms in individuals with ASD. METHODS: This study adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guideline. A comprehensive literature search was performed across multiple databases including the Cochrane Library, PubMed, Web of Science, and Google Scholar up until June 2024. Inclusion criteria encompassed published randomized clinical trials (RCTs), focusing on probiotic interventions and evaluating outcomes related to ASD behavior symptoms. The study utilized Cochrane’s Risk of Bias 2 for bias assessment and applied random effect models with inverse variance method for statistical analysis, also addressing publication bias and conducting subgroup analyses through Begg’s and Egger’s tests to explore the effects of various factors on the outcomes. RESULTS: Our meta-analysis, which looked at eight studies with a total of 318 samples from ASD patients aged 1.5-20 years, showed that the probiotic intervention group had significantly better behavioral symptoms compared to the control group. This was shown by a pooled standardized mean difference (SMD) of -0.38 (95% CI: 0.58 to -0.18, p < 0.01). Subgroup analyses revealed significant findings across a variety of factors: studies conducted in the European region showed a notable improvement with an SMD of -0.44 (95%CI: 0.72 to -0.15); interventions lasting longer than three months exhibited a significant improvement with an SMD of -0.43 (95%CI: 0.65 to -0.21); and studies focusing on both participants under and greater than 10 years found significant benefits with an SMDs of -0.37 and -0.40, respectively (95%CI: 0.65 to -0.09, and 95%CI: 0.69 to -0.11, respectively). Moreover, both multi-strain probiotics and single-strain interventions showed an overall significant improvement with a SMD of -0.53 (95%CI: 0.85 to -0.22) and -0.28 (95%CI: 0.54 to -0.02), respectively. Also, the analysis confirmed the low likelihood of publication bias and the robustness of these findings. CONCLUSION: Our study highlighted the significant improvement in ASD behavioral symptoms through probiotic supplementation. The need for personalized treatment approaches and further research to confirm efficacy and safety of probiotics in ASD management is emphasized.

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15. Tamilson B, Eccles JA, Shaw SCK. The experiences of autistic adults who were previously diagnosed with borderline or emotionally unstable personality disorder: A phenomenological study. Autism;2024 (Sep 11):13623613241276073.

Autistic people face many barriers to receiving an autism diagnosis. Often, they may be misdiagnosed with borderline personality disorder instead. For our study, we interviewed 10 autistic adults who had previously been diagnosed with borderline personality disorder. This helped us to better understand their experiences. They explained how borderline personality disorder is quite stigmatised and may suggest that people are to blame for their differences in behaviour. They found the treatments they had to try for borderline personality disorder to be harmful. For example, these treatments promoted ‘masking’. Previous research showed that masking can be harmful for autistic people, linking it to risk of suicide. This diagnosis also led to healthcare professionals neglecting them and discounting their beliefs. Once they were diagnosed with borderline personality disorder, it was hard to access an autism assessment. When they did receive their autism diagnoses, this was much more positive. This diagnosis was validating. It also improved their mental health, as they were no longer expected to mask – their differences were now accepted. They still felt that autism was stigmatised in society. However, this was very different to the stigma around borderline personality disorder. They felt autism stigma was more about their competence as people, whereas borderline personality disorder stigma was about how they were broken and might be harmful to others. This study is important because it allows their stories to be heard by researchers and healthcare professionals alike. Adding their voices helps to humanise them, promoting positive change in mental health services. More research is now needed.

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16. Tozkır J, Yıldırım G, Demir S, Palabıyık O, Görker I, Gürkan H. Investigation of Pogz Gene Variants in Non-Syndromic Autism Spectrum Disorder. Noro Psikiyatr Ars;2024;67(3):208-212.

INTRODUCTION: Genetic factors play an important role in the etiopathogenesis of autism spectrum disorder (ASD). The Pogo Transposable Element with ZNF Domain protein (POGZ) gene (MIM*614787) has been reported to be one of the most frequently mutated genes associated with ASD. This study aims to analyze the exonic regions of the POGZ gene in individuals diagnosed with non-syndromic ASD. METHODS: Fifty-one non-syndromic cases diagnosed with ASD according to the DSM-V diagnostic criteria, aged 2-18 years, were included in the study. The healthy control group consisted of 50 children of similar age groups without neurodevelopmental problems. Amplicons produced using deep intronic primers covering the mRNA-encoded regions of the POGZ gene from at least 50 base pairs were sequenced by Next Generation Sequencing Analysis. RESULTS: No pathogenic or likely pathogenic variants reported in open-access databases (ClinVar, HGMD, etc.) were detected in the case group. In the ASD and healthy control groups, rs113396244, rs11204811, rs779479223, rs772352054, rs3831142, rs112072925, rs227453 and rs142860188 variants were determined. The rs3831142, rs112072925, rs2274535, rs142860188 variants were found statistically significant in the ASD group. The distribution of the cases with detected single nucleotide polymorphisms (SNPs) according to gender was not statistically significant. CONCLUSION: The variants identified as statistically significant within the patient group are situated in regions that encompass both the HP1-ZNF and DDE domains of the protein. Given the crucial role that the DDE domain plays, particularly in fetal brain development and neurogenesis, these four variants may potentially possess modifying and/or predisposing effects in the context of ASD.

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17. Ünal D, Varol AB, Köse TB, Koçak EE. Morphological Correlates of Behavioral Variation in Autism Spectrum Disorder Groups in A Maternal Immune Activation Model. Noro Psikiyatr Ars;2024;67(3):195-201.

INTRODUCTION: Clinical heterogeneity is one of the biggest challenges for researchers studying underlying neurobiological mechanisms in Autism Spectrum Disorder (ASD). We aimed to use polyinosinic-polycytidylic acid [Poly (I:C)] induced maternal immune activation mice model to investigate the behavioral variation and the role of brain circuits related to symptom clusters in ASD. For this purpose, behavioral tests were applied to offsprings and regional thickness was measured from histological brain sections in medial prefrontal cortex, hippocampus and striatum. METHODS: Pups of intraperitoneal Poly (I:C)-applied mothers (n: 14) and phosphate buffered saline-applied mothers (n: 6) were used for this study. We used three chamber socialization test and social memory test to evaluate social behavior deficit in mice. Marble burying test was used for assessing stereotypic behavior and new object recognition test for learning and cognitive flexibility. Three subgroups (n: 4 for each) were determined according to behavioral test parameters. Regional thickness was measured in medial prefrontal cortex, hippocampus and striatum and compared between subgroups. RESULTS: We detected that the behavioral differences were distributed in a spectrum as expected in the clinic and also detected increased hippocampus thickness in the stereotypic behavior dominant Poly (I:C) subgroup. CONCLUSION: Poly (I:C) induced maternal immune activation model creates the behavioral variation and cortical development differences that are seen in relation with symptom groups in ASD.

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18. Vardhan A, Kamath A, Soman S, Nagaraj AKM, Bhat V, Vishwanath R. AUTS2 variant in a child diagnosed with autism spectrum disorder and intellectual disability disorder, a case report. Indian J Psychiatry;2024 (Jul);66(7):673-675.

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19. Wang T, He W, Chen Y, Gou Y, Ma Y, Du X, Wang Y, Yan W, Zhou H. Differential One-carbon metabolites among children with autism spectrum disorder: A case-control study. J Nutr;2024 (Sep 11)

BACKGROUND: Driven by the complex multifactorial etiopathogenesis of autism spectrum disorder (ASD), a growing interest surrounds the disturbance in folate-dependent one-carbon metabolism (OCM) in the pathology of ASD, while the evidence remained inconclusive. OBJECTIVE: The study aims to investigate the association of OCM metabolism and ASD and characterize differential OCM metabolites among children with ASD. METHODS: Plasma OCM metabolites were investigated in 59 children with ASD and 40 neurotypical children using ultra-performance liquid chromatography tandem mass spectrometry (UPLC-MS) technology. Differences (significance level< 0.001) were tested in each OCM metabolite between cases and controls. Multivariable models were also performed after adjusting for covariates. RESULTS: Ten out of 22 examined OCM metabolites were significantly different in children with ASD, compared to neurotypical controls. Specifically, S-adenosylmethionine (SAM), oxidized glutathione (GSSG), and glutathione (GSH) levels were increased, while S-adenosylhomocysteine (SAH), choline, glycine, L-serine, cystathionine, L-cysteine, and taurine levels were significantly decreased. Children with ASD showed significantly higher SAM /SAH ratio (3.87±0.93 vs. 2.00±0.76, p=0.0001) and lower GSH/GSSG ratio (0.58 (0.46, 0.81) vs. 1.71 (0.93, 2.99)) compared with the neurotypical controls. Potential interactive effects between SAM/SAH ratio, taurine, L-serine and gastrointestinal syndromes were further observed. CONCLUSION: OCM disturbance was observed among children with ASD, particularly in methionine methylation and trans-sulfuration pathways. The findings add valuable insights into the mechanisms underlying ASD and the potential of ameliorating OCM as a promising therapeutic of ASD, which warrant further validation.

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20. Weber CF, Kebets V, Benkarim O, Lariviere S, Wang Y, Ngo A, Jiang H, Chai X, Park BY, Milham MP, Di Martino A, Valk S, Hong SJ, Bernhardt BC. Contracted functional connectivity profiles in autism. Mol Autism;2024 (Sep 11);15(1):38.

OBJECTIVE: Autism spectrum disorder (ASD) is a neurodevelopmental condition that is associated with atypical brain network organization, with prior work suggesting differential connectivity alterations with respect to functional connection length. Here, we tested whether functional connectopathy in ASD specifically relates to disruptions in long- relative to short-range functional connections. Our approach combined functional connectomics with geodesic distance mapping, and we studied associations to macroscale networks, microarchitectural patterns, as well as socio-demographic and clinical phenotypes. METHODS: We studied 211 males from three sites of the ABIDE-I dataset comprising 103 participants with an ASD diagnosis (mean ± SD age = 20.8 ± 8.1 years) and 108 neurotypical controls (NT, 19.2 ± 7.2 years). For each participant, we computed cortex-wide connectivity distance (CD) measures by combining geodesic distance mapping with resting-state functional connectivity profiling. We compared CD between ASD and NT participants using surface-based linear models, and studied associations with age, symptom severity, and intelligence scores. We contextualized CD alterations relative to canonical networks and explored spatial associations with functional and microstructural cortical gradients as well as cytoarchitectonic cortical types. RESULTS: Compared to NT, ASD participants presented with widespread reductions in CD, generally indicating shorter average connection length and thus suggesting reduced long-range connectivity but increased short-range connections. Peak reductions were localized in transmodal systems (i.e., heteromodal and paralimbic regions in the prefrontal, temporal, and parietal and temporo-parieto-occipital cortex), and effect sizes correlated with the sensory-transmodal gradient of brain function. ASD-related CD reductions appeared consistent across inter-individual differences in age and symptom severity, and we observed a positive correlation of CD to IQ scores. LIMITATIONS: Despite rigorous harmonization across the three different acquisition sites, heterogeneity in autism poses a potential limitation to the generalizability of our results. Additionally, we focussed male participants, warranting future studies in more balanced cohorts. CONCLUSIONS: Our study showed reductions in CD as a relatively stable imaging phenotype of ASD that preferentially impacted paralimbic and heteromodal association systems. CD reductions in ASD corroborate previous reports of ASD-related imbalance between short-range overconnectivity and long-range underconnectivity.

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21. Willim J, Woike D, Greene D, Das S, Pfeifer K, Yuan W, Lindsey A, Itani O, Böhme AL, Tibbe D, Hönck HH, Hassani Nia F, Zech M, Brunet T, Faivre L, Sorlin A, Vitobello A, Smol T, Colson C, Baranano K, Schatz K, Bayat A, Schoch K, Spillmann R, Davis EE, Conboy E, Vetrini F, Platzer K, Neuser S, Gburek-Augustat J, Grace AN, Mitchell B, Stegmann A, Sinnema M, Meeks N, Saunders C, Cadieux-Dion M, Hoyer J, Van-Gils J, de Sainte-Agathe JM, Thompson ML, Bebin EM, Weisz-Hubshman M, Tabet AC, Verloes A, Levy J, Latypova X, Harder S, Silverman GA, Pak SC, Schedl T, Freson K, Mumford A, Turro E, Schlein C, Shashi V, Kreienkamp HJ. Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors. Nat Commun;2024 (Sep 10);15(1):7909.

Members of the leucine rich repeat (LRR) and PDZ domain (LAP) protein family are essential for animal development and histogenesis. Densin-180, encoded by LRRC7, is the only LAP protein selectively expressed in neurons. Densin-180 is a postsynaptic scaffold at glutamatergic synapses, linking cytoskeletal elements with signalling proteins such as the α-subunit of Ca(2+)/calmodulin-dependent protein kinase II. We have previously observed an association between high impact variants in LRRC7 and Intellectual Disability; also three individual cases with variants in LRRC7 had been described. We identify here 33 individuals (one of them previously described) with a dominant neurodevelopmental disorder due to heterozygous missense or loss-of-function variants in LRRC7. The clinical spectrum involves intellectual disability, autism, ADHD, aggression and, in several cases, hyperphagia-associated obesity. A PDZ domain variant interferes with synaptic targeting of Densin-180 in primary cultured neurons. Using in vitro systems (two hybrid, BioID, coimmunoprecipitation of tagged proteins from 293T cells) we identified new candidate interaction partners for the LRR domain, including protein phosphatase 1 (PP1), and observed that variants in the LRR reduced binding to these proteins. We conclude that LRRC7 encodes a major determinant of intellectual development and behaviour.

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