1. Correction to « AST-001 versus placebo for social communication in children with autism spectrum disorder: A randomized clinical trial ». Psychiatry Clin Neurosci;2025 (Jun 10)

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2. Abbasian V, Davoudi S, Vahabzadeh A, Maftoon-Azad MJ, Janahmadi M. Astroglial Kir4.1 and AQP4 Channels: Key Regulators of Potassium Homeostasis and Their Implications in Autism Spectrum Disorders. Cell Mol Neurobiol;2025 (Jun 11);45(1):56.

Astroglial Kir4.1 and AQP4 channels are pivotal regulators of potassium (K(+)) and water homeostasis in the brain, playing essential roles in maintaining neuronal stability, facilitating synaptic transmission, and supporting overall brain function. Kir4.1 channels promote the efficient uptake of K(+) ions from the extracellular space, particularly during periods of high neuronal activity, thereby preventing excessive neuronal excitability-a condition linked to several neurological disorders, including Autism Spectrum Disorder (ASD). Meanwhile, AQP4 channels, predominantly expressed in the astrocytic end-feet at the blood-brain barrier, regulate water transport across cell membranes, ensuring osmotic balance that complements the function of Kir4.1 in K(+) clearance. Recent studies have underscored the critical link between dysfunctions in these channels and the pathophysiology of ASD, a complex neurodevelopmental disorder characterized by a broad range of social, communicative, and behavioral impairments. Mutations or dysregulations in Kir4.1 and AQP4 channels can disrupt K(+) and water homeostasis, exacerbating neuronal hyperexcitability and contributing to hallmark ASD symptoms, such as sensory processing abnormalities, social deficits, and an increased risk of seizures. This review synthesizes current findings, focusing on the molecular mechanisms of Kir4.1 and AQP4 channels, their role in astrocyte-neuron interactions, and their pathophysiological implications in ASD. It also provides a detailed discussion of potential therapeutic interventions targeting these channels to mitigate ASD symptoms.

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3. Ames JL, Ferrara A, Feng J, Alexeeff S, Avalos LA, Barrett ES, Bastain TM, Bennett DH, Buckley JP, Carignan CC, Cintora P, Ghassabian A, Hedderson MM, Hernandez-Castro I, Kannan K, Karagas MR, Karr CJ, Kuiper JR, Liang D, Lyall K, McEvoy CT, Morello-Frosch R, O’Connor TG, Oh J, Peterson AK, Quiros-Alcala L, Sathyanarayana S, Schantz S, Schmidt RJ, Starling AP, Woodruff TJ, Volk HE, Zhu Y, Croen LA. Exposure to organophosphate ester flame retardants and plasticizers during pregnancy and autism-related outcomes in the ECHO Cohort. Environ Health Perspect;2025 (Jun 11)

BACKGROUND: Organophosphate ester flame retardants and plasticizers (OPEs) have myriad uses in industry and consumer products. Increasing human exposure to OPEs has raised concerns about their potential effects on child neurodevelopment during pregnancy. OBJECTIVE: We investigated whether OPE urinary concentrations during pregnancy were associated with child autism-related outcomes. METHODS: We included 4159 mother-child pairs from 15 cohorts in the NIH Environmental influences on Child Health Outcomes (ECHO) Consortium, with children born from 2006-2020 (median age [interquartile range]: 6 [4,10] years). Nine OPE biomarkers were measured in urine samples collected mid- to late pregnancy. Dilution-adjusted biomarkers were modeled continuously, categorically (high [> median], moderate [≤ median], non-detect), or as detect/non-detect depending on their detection frequency. We assessed child autism-related traits via a) parent report on the Social Responsiveness Scale (SRS) and b) clinical autism diagnosis. We examined associations of OPEs with child outcomes, including modification by child sex, using generalized estimating equations to account for clustering by ECHO cohort. RESULTS: Compared with non-detectable concentrations, high exposure to bis(butoxyethyl) phosphate (BBOEP) was associated with higher autistic trait scores (adj-β 0.97, 95% confidence interval [CI]: 0.42, 1.52) and greater odds of autism diagnosis (adjusted odds ratio [adj-OR]: 1.27, 95% CI: 1.07, 1.50). Bis(1-chloro-2-propyl) phosphate (BCPP) showed associations with autistic trait scores (BCPP adj-β for high exposure vs. non-detect: 0.34, 95% CI: -0.46, 1.13; BCPP adj-β for moderate exposure vs. non-detect: 0.72, 95% CI: 0.24, 1.20). High exposure to bis(2-chloroethyl) phosphate (BCETP) was associated with lower odds of autism diagnosis (adj-OR: 0.76, 95% CI: 0.60, 0.95). Other OPEs showed no associations in adjusted models. Associations between BBOEP and higher autistic trait scores were stronger in males than females. DISCUSSION: Prenatal exposure to OPEs, specifically BCPP and BBOEP, may be associated with higher risk of autism diagnosis and related traits in childhood. https://doi.org/10.1289/EHP16177.

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4. Aydemir U. ChatGPT-Delivered Physical Activity Intervention for Children With Autism Spectrum Disorder: Pre-Post Feasibility Study. JMIR Hum Factors;2025 (Jun 11);12:e71119.

BACKGROUND: The use of digital technologies, such as mobile apps, Zoom (Zoom Communications), virtual reality, and video games, to promote physical activity in individuals with autism spectrum disorder (ASD) has been increasing. However, there are no studies using ChatGPT (OpenAI), a popular tool in recent years, for promoting physical activity in children with ASD. OBJECTIVE: This study aimed to evaluate the feasibility and potential effectiveness of ChatGPT-delivered physical activity interventions in children with ASD. METHODS: A total of 26 families (parent-child dyads) participated in the study. Families were randomly assigned to an application group (n=13) and a control group (n=13). In the application group, parents implemented physical activities recommended by ChatGPT for their children with ASD. Data were collected using the Leisure Time Exercise Questionnaire (LTEQ) and a feasibility questionnaire. RESULTS: Parents reported that ChatGPT-delivered physical activities were a feasible intervention to increase physical activity levels in children with ASD. They also found the activity content suggested by ChatGPT to be interesting and useful. LTEQ measurements corroborated these findings, showing a significant increase in the physical activity levels of children in the intervention group after the intervention. CONCLUSIONS: The results suggest that ChatGPT-delivered physical activities could be a promising intervention to enhance physical activity in children with ASD. Further investigation is warranted.

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5. Cameranesi M, Kostal K, Dufault B, Matlabi M, Baranowski M, McCombe L, Jiang D, Shooshtari S. Quality of life trajectories in persons with intellectual and developmental disabilities undergoing community transition in Central Canada: A longitudinal repeated measures study. Res Dev Disabil;2025 (Jun 9);164:105060.

BACKGROUND: Strong evidence suggests that, compared to congregate care, dispersed community living offers significant quality of life (QoL) benefits for individuals with intellectual and developmental disabilities. However, it is still unclear whether these improvements apply to all domains of QoL or if they remain stable long term. AIMS: This study investigated QoL trajectories across four time points over a 4-year period (2019-2022) in a cohort of Canadian adults with severe-to-profound intellectual and developmental disabilities and extensive support needs who transitioned from an institutional setting to dispersed community group homes in Central Canada. METHODS: A repeated measures quasi-experimental time-series study, without control group was used to address the stated research objective. Four waves of QoL data on 59 study participants was collected using the proxy-report standardized assessment tool San Martin Scale and analyzed at both the individual and aggregate levels using linear mixed-effects models. RESULTS: The mean QoL scores of the study cohort across eight QoL domains changed significantly across timepoints, with the highest scores at the first post-transition assessment and a general decline towards pre-transition levels by the last assessment. Global QoL followed a similar pattern. Notably, some QoL domains showed unique patterns of change. Individual QoL trajectories were highly variable, with some participants experiencing transient improvements and others maintaining sustained gains. IMPLICATIONS: Continued efforts to promote the QoL of persons with intellectual and developmental disabilities should be rooted in a transformative social justice framework emphasizing equity, inclusion, and health and well-being as universal human rights.

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6. Cheong PL, Wu YT, Xie LN, Chang JC, Kuo HI, Yang PY. Effects of Rhythmic Motor and Behavioral Intervention on Motor and Social Performance in Preschool Children with Autism Spectrum Disorder: A Pilot Randomized Controlled Study. J Autism Dev Disord;2025 (Jun 11)

This study aimed to explore the potential effectiveness of the Rhythmic Motor and Behavioral Intervention (RMBI) program for preschool children with Autism Spectrum Disorder (ASD). Thirty children with ASD (median age: 5.8 years; 20 males) were randomly assigned to either the RMBI group or a control group. Participants in the RMBI group underwent an 8-week program comprising a music-based rhythmic motor intervention and parent education in Pivotal Response Treatment (PRT), while parents in the control group received PRT education only. Changes in motor performance were assessed using the Peabody Developmental Motor Scales, Second Edition (PDMS-2) and the Movement Assessment Battery for Children, Second Edition (MABC-2). Parent-reported social impairments were evaluated using the Social Responsiveness Scale, Second Edition (SRS-2). A micro-analytic behavioral analysis was conducted to examine changes in imitation accuracy and movement synchrony during the intervention. The RMBI program showed medium-to-large improvements in gross motor skills, including stationary and locomotor abilities, visual-motor integration, and balance. Significant improvements were observed in autistic symptoms and social communication abilities. Furthermore, children in the RMBI group demonstrated enhanced imitation accuracy and movement synchrony compared to their baseline performance. These preliminary findings were further supported by parental reports of satisfaction with the program. This pilot study provides preliminary evidence of the feasibility and potential benefits of the RMBI program in enhancing motor and social skills in preschool children with ASD. Although the results are promising, further research with larger samples and longer follow-up is needed to confirm its efficacy and generalizability.

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7. Dutta K, Rai K, Shetty AA, Ananthu H, Nair MR. Assessment of stress levels in mothers of children with autism spectrum disorder using video self-modeling during children’s dental procedure. J Oral Biol Craniofac Res;2025 (Jul-Aug);15(4):779-782.

BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition affecting social interaction, communication, and behavior. Mothers of children with ASD often experience chronic stress, leading to dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis and low cortisol levels. Salivary cortisol, a non-invasive biomarker, reflects physiological stress responses. Effective behavior guidance in pediatric dentistry can improve the dental experience for children with ASD and reduce maternal stress. Video self-modeling (VSM) is a promising intervention to enhance cooperation in children with ASD during dental procedures. AIM: This study aimed to estimate the salivary cortisol levels in the mothers of children with ASD following the application of VSM as a behavior guidance technique for their children during dental procedures. MATERIALS AND METHODS: Twenty-two mothers of children with ASD (aged 6-12 years) participated. Salivary cortisol samples were collected at baseline and two weeks post-intervention. Cortisol levels were measured using enzyme-linked immunosorbent assay (ELISA), and a paired t-test compared pre- and post-intervention levels. RESULTS: Pre-intervention cortisol levels ranged from 13.35 ng/ml to 63.35 ng/ml (mean 33.2 ± 15.8 ng/ml). Post-intervention levels increased, ranging from 13.35 ng/ml to 55.52 ng/ml and difference was statistically significant (mean 44.2 ± 10.1 ng/ml; t = -2.53, p = 0.019). CONCLUSION: This study highlights the bidirectional relationship between child behavior and maternal stress. VSM improved cooperation in children with ASD during dental procedures and positively impacted maternal stress, as shown by increased salivary cortisol, thus emphasizing the need for behavior interventions benefiting both children and their families.

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8. Ghassabian A, Dickerson AS, Wang Y, Braun JM, Bennett DH, Croen LA, LeWinn KZ, Burris HH, Habre R, Lyall K, Frazier JA, Glass HC, Hooper SR, Joseph RM, Karr CJ, Schmidt RJ, Friedman C, Karagas MR, Stroustrup A, Straughen JK, Dunlop AL, Ganiban JM, Leve LD, Wright RJ, McEvoy CT, Hipwell AE, Giardino AP, Santos HP, Jr., Krause H, Oken E, Camargo CA, Jr., Oh J, Loftus C, O’Shea TM, O’Connor TG, Szpiro A, Volk HE. Prenatal Air Pollution Exposure and Autism Spectrum Disorder in the ECHO Consortium. Environ Health Perspect;2025 (Jun 11)

BACKGROUND: The relationship between prenatal exposure to low-level air pollution and child autism spectrum disorder (ASD) is unclear. OBJECTIVE: To examine associations of prenatal air pollution exposure with autism. METHODS: We analyzed data from 8,035 mother-child pairs from 44 United States cohorts in the Environmental influences on Child Health Outcomes (ECHO) Cohort. Fine particulate matter (PM(2.5)), nitrogen dioxide (NO(2)), and 8-hour-max ozone (O(3)) levels were estimated at residential addresses during pregnancy. Parents rated children’s autism-related traits using the Social Responsiveness Scale (SRS) (mean age 9.4 years, SD=3.6) and reported physician-diagnosed ASD. We examined associations of the three air pollutants with SRS scores (10(th), 50(th), and 90(th) quantiles) using quantile regression and with ASD diagnosis using logistic regression. Models were run within census divisions, and coefficients were pooled in a meta-analysis. RESULTS: Average (SD) pregnancy exposures were 9.3 µg/m3 (2.7) for PM(2.5), 21.8 ppb (8.8) for NO(2), and 40.3 ppb (5.5) for O(3), with variations across census divisions. The median SRS T-score was 46 (IQR=41 to 52), and 444 children (5.5%) had an ASD diagnosis. Higher PM(2.5) was associated with higher SRS scores at the 10(th) quantile (β=0.74, 95% CI: 0.09, 1.40) but not at the median or highest quantile. The association between PM(2.5) and ASD diagnosis was highly heterogeneous, with associations present in the South Central, Mountain, and Pacific census divisions. Heterogeneity was also high in the association between NO(2) and SRS at the median and only in the mid-Atlantic, West North Central, and South Atlantic census divisions. Higher O(3) was associated with higher SRS scores at the median (β per IQR increment=0.83, 95% CI: 0.05, 1.61) and highest quantile (β=2.19, 95% CI: 0.06, 4.32) in the meta-analysis. Higher O(3) also was associated with ASD. DISCUSSION: Associations with ASD outcomes were present even at low levels of air pollutants. https://doi.org/10.1289/EHP16675.

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9. Hartwell M, Elenwo C, Batioja K, Keener A, Mazur A, Chesher T. Disparities in the Use of Autism Support Services and Adverse Child Experiences: A State-Level Purview of the National Survey of Children’s Health. J Autism Dev Disord;2025 (Jun 11)

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10. Jin JB, Husain N, O’Halloran CP, Tannous P, Fox J, Nugent AW, Jone PN, Ramlogan SR. An Initial Experience in the Use of 3D ICE for the Periprocedural Guidance of Percutaneous ASD Closure at a Tertiary Pediatric Center. Pediatr Cardiol;2025 (Jun 11)

The dynamic, multiplanar nature of the atrial septum can make ASDs challenging to characterize with 2D imaging. 3D imaging instantly profiles defect(s) in a single, en face view. 2D ICE-guided ASD device closure in the pediatric population has been reported, but 3D ICE-guided closure has not, and the correlation of 3D ICE measurements with fluoroscopic balloon-sizing diameter (BSD) remains unstudied. We describe our initial experience with 3D ICE in the periprocedural evaluation of percutaneous ASD closure. Consecutive patients undergoing percutaneous ASD closure at our institution from July 2022 to July 2023 were included. BSD was measured by the primary interventionalist, and non-invasive ASD dimensions were measured by two investigators intra-procedurally. Correlations were assessed between maximal BSD versus maximal ASD diameter by 2D (TEE, ICE) and 3D modalities (TEE, ICE). Fifteen patients underwent percutaneous ASD closure, and 11/15 (73%) underwent ICE (2D and 3D). Three cases omitted ICE due to equipment unavailability, and one due to inadequate imaging windows related to spinal rods. 10 of 11 patients also underwent TEE, while one had ASD closure by fluoroscopy and ICE alone due to provider preference. Six of ten TEEs (60%) included 3D imaging based on weight cut-off. The median age of ICE patients was 6 years (IQR: 7.5), with a median weight of 20.5 kg (IQR: 35.8). 3D ICE was attempted in all; image quality assessed as ‘fair’ or ‘good’ by two reviewers in 8/11 patients. Intraprocedural imaging correlated strongly with BSD [3D ICE vs. BSD (n = 7): ICC = 0.915, p < 0.001)]. Median pre-device deployment evaluation time by ICE was 14 min (IQR: 8.25), and 5 min (IQR: 3.0) post-device deployment. 3D ICE is a viable adjunctive imaging tool for guiding ASD closure procedures within the pediatric cohort, offering safety, efficiency, and congruence with established imaging modalities. Maximal ASD dimensions by 3D ICE correlate well with BSD.

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11. Kaczyński J, Pasenkiewicz-Gierula M. Analysis of variant interactions in families with autism points to genes involved in the development of the central nervous system. PLoS One;2025;20(6):e0326022.

Whole-genome sequencing data of simplex families with autism spectrum disorder (ASD) were analyzed by searching for statistical interactions between loci. The resulting variant pairs mapped to 411 genes, of which 368 had not been associated with ASD before. The variants were used to build an ASD predictor based on an open-source machine learning library. The predictor correctly classifies over 78% of samples from a test set with an average significance level of 8.9· 10-158. Gene Ontology (GO) enrichment analysis of the identified risk genes points to functions related to the development of the Central Nervous System (CNS). Clustering cases on the basis of risk variants improves predictor accuracy and reveals additional overrepresented GO terms. Some of the detected statistical interactions can be linked to known biological interactions between genes involved in the development of the CNS. Analysis of the statistical interactions also points to genes whose biological functions are not yet known.

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12. Kalawatia M, Lucke-Wold B, Mehrunkar A. Supporting parents in autism care. World J Psychiatry;2025 (May 19);15(5):103575.

Autism spectrum disorder is a developmental disorder impacting a child’s social interactions, behaviors, and communication skills. One of the crucial aspects of autism care, which is often overlooked, is the parent’s mental health status while trying to improve and overcome challenges faced by their child. A study by Lu et al examined the effectiveness of remote family psychological support courses on the mental health status of parents having children with autism spectrum disorder. It was found that the integration of these remote psychological courses with conventional care had a positive impact on the parents by reducing their stress levels, leading to an increase in their competence, and hence they could engage effectively in child therapy. However, a long-term study is necessary to assess whether these interventions have a sustained effect. The study emphasizes the need for developing such culturally sensitive intervention models on a global scale, making them accessible to all and improving autism care support.

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13. Kanchi N, Yoshikawa Y, Kawata M, Utsumi A, Miyashita T, Nishikawa N, Lee A, Ishiguro H, Muramatsu T, Kumazaki H. Social Communication Training Using a Computer Graphics Avatar in a Real City Street Environment for Individuals with Autism Spectrum Disorder. J Autism Dev Disord;2025 (Jun 11)

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14. Kellerman A, Janis A, Piergies A, Dermody SS, Messinger DS, Miller M, Schwichtenberg AJ. Dyadic Synchrony and Responsiveness Within the Context of Elevated Autism Likelihood: Applying Time-Varying Effect Models. J Autism Dev Disord;2025 (Jun 11)

The ability to engage in synchronous interactions develops in the first year, as infants learn to sequentially regulate prosocial behaviors. Difficulty developing competence in these early social building blocks is linked to later developmental concerns, including autism spectrum disorder (ASD). Currently, metrics for quantifying social competence rely primarily on mean-level indices; however, interactions are dynamic. The present study modeled change in the odds of dyadic synchrony (DS), maternal responsiveness (MR), and infant responsiveness (IR) over time to explore if temporal patterns can inform developmental monitoring. Dyads were recruited from families with at least one older child with ASD (elevated ASD likelihood, n = 95) or families with no history of ASD (typical ASD likelihood, n = 72). Theory-driven indices of dyadic synchrony and responsiveness were derived from micro-analytically coded gaze, positive affect, and vocalizations. A series of logistic time-varying effect models (TVEMs) were conducted to compare temporal changes in synchrony and responsiveness across the infant/toddler groupings of (1) elevated- vs typical-ASD likelihood and (2) typical (TYP), ASD, or other developmental concerns (Non-ASD DC). DS, IR, and MR patterns were temporally stable but lower for the elevated ASD likelihood group. Temporal patterns of DS, IR, and MR were more variable for the ASD and Non-ASD DC groups. TVEMs captured meaningful dyadic information and could be used in future studies to inform prospective monitoring and parent-mediated intervention approaches.

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15. Khayyat AIA, Alabdali AN, Alonazi M, Alzahrani AA, Al-Shehri E, Ben Bacha A. Luteolin mitigates oxidative stress and multi-organ impairment in a propionic acid-induced rodent model of autism. Front Nutr;2025;12:1583119.

BACKGROUND/OBJECTIVES: Oxidative stress, organ impairments, and gastrointestinal abnormalities are the most common systemic dysfunctions that accompanied the neurodevelopmental condition, Autism Spectrum Disorder (ASD). Emerging evidence suggests that increased propionic acid (PPA) levels contribute to ASD pathophysiology through oxidative stress, neuroinflammation and disruption of the gut-liver-brain axis. Thanks to its strong anti-inflammatory and antioxidant potencies, luteolin, has shown to be promising in alleviating these effects. This study investigated the therapeutic and protective effects of luteolin in a PPA-induced rodent model of ASD by assessing oxidative stress, intestinal permeability, and liver and kidney dysfunction biomarkers. METHODS: Fifty young male albino rats were divided into five groups: control, PPA-treated, luteolin-treated, therapeutic (PPA followed by luteolin), and protective (luteolin followed by PPA). Oxidative stress markers (GSH, lipid peroxides, GST, SOD, and catalase), serum zonulin, liver enzymes (ALT, AST, ALP) and renal function markers (urea nitrogen, creatinine) were investigated. ROC analysis evaluated the diagnostic potential of these biomarkers, while Spearman correlation analysis explored interrelationships among parameters. RESULTS: PPA administration significantly reduced antioxidant defenses, including GSH, GST, SOD, and catalase, while increasing lipid peroxidation and inducing hepatic and renal dysfunction, as evidenced by elevated ALT, AST, ALP, urea nitrogen, and creatinine levels, along with increased zonulin levels. Luteolin intervention effectively reversed these alterations by restoring antioxidant capacity, lowering zonulin levels, and improving liver and kidney function. ROC analysis demonstrated high diagnostic accuracy (AUC = 1.000) for oxidative stress and organ dysfunction markers in the PPA-treated group, while luteolin treatment significantly enhanced biomarker sensitivity and specificity. Spearman correlation analysis revealed strong negative correlations between antioxidants and oxidative stress markers (p < 0.001) and positive correlations between zonulin and liver/kidney dysfunction indicators (p < 0.001), further confirming the systemic impact of PPA. CONCLUSION: Luteolin effectively alleviated oxidative stress, restored antioxidant defenses, and enhanced liver, kidney, and intestinal barrier functions in a PPA-induced ASD model. These findings underscored its therapeutic potential as a natural intervention for ASD-related systemic dysfunctions. Further clinical studies are needed to evaluate its translational applicability in ASD management.

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16. Laszlo K, Bacova Z, Zelena D, Bakos J. Developmental Disturbances in Animal Models of Autism Spectrum Disorder. Dev Neurobiol;2025 (Jul);85(3):e22977.

Although the early signs of autism spectrum disorder (ASD) are widely studied, the significant ambiguity and heterogeneity in symptoms require the comparison of available models, approaches, and the search for common denominators and key indicators. Early ASD symptoms in animal models include impaired somatic development (e.g., delayed eye opening), alterations in primitive motor reflexes, disrupted sensory function as well as communication deficits, such as reduced ultrasonic vocalization. This review aims to summarize early ASD-related symptoms based on studies involving transgenic or neurotoxic rodent models (postnatal days 1-21) and to compare these with human resemblance. The key brain areas (subventricular zone, cortex, hippocampus, cerebellum, etc.) as well as relevant neurotransmitter systems (GABA-glutamate imbalance, developmental GABA shift, serotonin, dopamine, oxytocin [OT], etc.) were identified as potential targets for intervention. OT, although a promising candidate, exemplifies the translational challenges inherent in ASD research. Therefore, it is recommended to monitor a wide range of behavioral signs simultaneously and employ diverse models (e.g., genetic, developmental, environmental, or combination) in preclinical studies to more accurately reflect the complexity of the disorder.

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17. Lehmann K, Rosato M, Leavey G. Increased risk of suicidality in treatment-seeking transgender adults and adolescents with autism traits and anxiety/depression. J Child Adolesc Ment Health;2025 (Jun 11):1-16.

Background: Transgender adolescents and adults appear to be at increased risk of suicidality, but the risk factors are unclear.Aim: This study aimed to examine suicidality in treatment-seeking adolescents and adults. We examined whether autism traits, anxiety/depression, access to gender affirming treatments, or self-identification category affected suicidality in this group.Methods: We conducted a cross-sectional study of 123 patients (16 years and older) currently attending, or previously attended, specialist gender services in Northern Ireland. Main outcome measures included a demographic information questionnaire, the Suicide Behaviour Questionnaire Revised, the Childhood Trauma Questionnaire or the Recent Trauma Questionnaire, and the Hospital Anxiety and Depression Scale. Autism traits were measured using the Autism Quotient, the Ritvo Autism and Asperger Diagnostic Scale-Revised, and the Cambridge Behaviour Scale (Empathy Quotient).Results: Only autism traits and anxiety/depression were independently associated with higher levels of suicidality. Self-reported future risk of suicidality was markedly lower than self-reported past suicidality for the patients who were attending the specialist gender service. This apparent reduction in suicidality is possibly attributable to the impact of being able to access the specialist service. Conclusion: This study highlights increased vulnerability in this population for suicidality, particularly those with autism traits and anxiety/depression. These findings are important in the context of the reclassification of gender incongruence to conditions of sexual health. While a move away from mental health services reduces stigma for individuals seeking gender-affirming interventions, the treatment of co-existing mental health needs requires close involvement with mental health services.

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18. Lombardo C, Silvestri MC, Iannuzzo F, Turiaco F, Genovese G, Muscatello MRA, Bruno A, Mento C, Pandolfo G. Exploring the role of subthreshold autistic traits on body image uneasiness: a study among Italian female with eating disorders. Int J Psychiatry Clin Pract;2025 (Jun 10):1-6.

OBJECTIVE: The present study evaluate the presence of subthreshold autistic traits, assess the level of body image dissatisfaction, and explore their potential association in female patients with eating disorders. METHOD: The study used the Adult Autism Subthreshold Spectrum – AdAS and the Body Uneasiness Test – BUT to identify autistic traits that predict body image distress, applying linear and stepwise regression. RESULTS: The sample consisted of 49 female patients with eating disorders with a mean duration of illness of 4 years. Regression analysis indicated that BUT ‘Weight Phobia’ factor was positively associated with AdAS ‘Non-Verbal communication’ and ‘Inflexibility and adherence to routine’ domains, BUT ‘Body Image Concerns’ factor was associated with AdAS ‘Non-Verbal communication’ and ‘Inflexibility and adherence to routine’ domains. BUT ‘Compulsive Self-Monitoring’ factor was associated with AdAS ‘Inflexibility and adherence to routine’ domain and, finally BUT ‘Depersonalization’ factor was positively associated with AdAS ‘Hyper- and hypo reactivity to sensory input’. The average AdAS score is 73.8 (± SD 22.8). CONCLUSIONS: The study highlights that subthreshold autistic traits may play a role in altering body image in patients with eating disorders, possibly due to altered sensory perception. Further research is needed to explore causes and therapies. The study finds subthreshold autistic traits may predict body image uneasinessAdAS domains predict Weight Phobia and Body Image Concerns factors of the BUTInflexibility and adherence to routine predict Compulsive Self-MonitoringSensory input reactivity predicts the Depersonalisation factor of the BUT. eng

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19. Mahgoub Y, Hamlin D, Kindt H, Francis A. Catatonia and autism spectrum disorder: A common comorbid syndrome or a core feature?. World J Psychiatry;2025 (May 19);15(5):103967.

Autism spectrum disorder (ASD) is an early-onset neurodevelopmental disorder marked by persistent deficits in social communication and interaction, alongside restricted, repetitive patterns of behaviors (RRB), interests, or activities. It often co-occurs with various neuropsychiatric disorders, though their frequency varies widely due to unclear boundaries between the core features of ASD and common comorbidities. Catatonia, increasingly noted in neurodevelopmental conditions like ASD, shares striking similarities with ASD in symptomatology, brain mechanisms, and treatment responses, prompting the question of whether it is a core feature of ASD or a distinct condition. This paper delved into this overlap, exploring the relationship between catatonia and ASD through a narrative review of peer-reviewed literature from 1943 to 2024, sourced from PubMed and psychiatric journals. Focusing on ASD diagnostic evolution, symptom overlap with catatonia, and shared neurobiological and therapeutic characteristics, we used thematic analysis to synthesize findings into key areas such as historical nosology, phenomenological overlap, neurobiological parallels, and treatment response. The evidence revealed weak support for separating catatonia from overlapping RRB features of ASD, suggesting that some RRB might align more with comorbid catatonia than intrinsic ASD traits. However, this idea needs further validation through rigorous clinical trials. Clarifying this relationship could refine diagnostic approaches and open doors to targeted treatments, potentially improving outcomes for those affected.

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20. Misra R, Chang R, Adebiyi OT, Orbe M, Pham D, Miner K, Frasier KM. Advancing Dermatologic Equity for Individuals With Autism Through Awareness and Structural Reform. Cureus;2025 (May);17(5):e83829.

Autism spectrum disorder (ASD), a neurodevelopmental condition affecting communication, social interaction, and sensory processing, has seen a marked increase in prevalence over the past two decades. Dermatologists are increasingly encountering patients with ASD, many of whom face compounded challenges due to mobility issues, such as reliance on wheelchairs, as well as sensory hypersensitivities and communication barriers. Despite the growing demand for specialized care, advocacy for accessible dermatologic health for individuals with ASD remains insufficient. This literature review highlights the challenges faced by this population, including higher susceptibility to certain dermatologic conditions and the significant barriers to effective clinical evaluation and management. By identifying key gaps in care, this review advocates for the implementation of sensory-aware practices, such as adapting clinical environments, employing tailored communication strategies, and designing individualized treatment plans. Furthermore, it emphasizes the critical role of dermatologists, researchers, and policymakers in championing systemic changes that address these barriers and promote equitable access to care. Through a commitment to advocacy and innovation, dermatology can better meet the needs of individuals with ASD and contribute to advancing skin health equity on a global scale.

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21. Nie C, Su YE, Durrleman S, He X. Differences in Language Impairment Between Developmental Language Disorder and Autism: Insights From Mandarin ba and bei Constructions. Autism Dev Lang Impair;2025 (Jan-Dec);10:23969415251341248.

BACKGROUND AND AIMS: Both developmental language disorder (DLD) and autism spectrum disorder (ASD) are characterized by language and communication deficits, and the extent to which commonalities in syntactic difficulties are shared between DLD and autism plus language impairment (ALI), a subtype of ASD, is a matter of debate. Thus, this study aims to further explore the extent of overlapping vulnerabilities in the syntactic profiles of children with DLD and ALI. METHOD: We investigated the comprehension and production of two complex syntactic structures, ba constructions and bei constructions in Mandarin by 18 children with DLD (mean age = 5;03) and 17 children with ALI (mean age = 5;05), compared to their 24 typically developing peers matched on chronological age. RESULTS: The results show that children with DLD and children with ALI differ in the errors committed when producing these two constructions. Specifically, children with DLD are prone to produce ungrammatical responses, use simple sentences, and misuse ba/bei constructions, while children with ALI produce pragmatically inappropriate responses which are scarce in the productions of children with DLD. In addition, the comprehension and production of bei constructions by children with DLD were significantly correlated with their nonverbal working memory (NVWM), while no such correlation was found in the ALI group. Finally, while ba and bei constructions yield higher comprehension than production in the DLD group, only ba constructions showed this pattern in the ALI group. CONCLUSIONS: These findings suggest that children with DLD and children with ALI do not constitute a continuum of the same language disorder despite their superficial resemblance on performance accuracy. IMPLICATIONS: This study highlights the need for tailored interventions to enhance mastery of ba and bei constructions: for children with DLD, focus on explicit instruction in complex syntax and NVWM training; for children with ALI, emphasize syntactic and pragmatic language development through context-rich activities integrating complex syntax and contextual cues.

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22. Nomura J, Zuko A, Kishimoto K, Mutsumine H, Maegawa H, Fukatsu K, Nomura Y, Liu X, Nakai N, Takahashi E, Kouno T, Shin JW, Takumi T. ESC models of autism with copy-number variations reveal cell-type-specific translational vulnerability. Cell Genom;2025 (Jun 11);5(6):100877.

Human genetics has identified numerous copy-number variations (CNVs) associated with autism spectrum disorders (ASDs). However, the lack of standardized biological resources impedes understanding of the cell-type-specific common features of ASD. Here, we establish a biological resource including 63 genetically modified mouse embryonic stem cell (ESC) lines as genetic models of ASD. We perform neural differentiation using 12 representative cell lines, and their comprehensive analyses, including single-cell RNA sequencing, uncover cell-type-specific susceptible pathways. Moreover, we find that a common phenotype in glutamatergic and GABAergic neurons is reduced expression of Upf3b, a core member of the translational termination and nonsense-mediated decay (NMD). This finding emphasizes that the dysfunction of translational machinery in the developing neurons can be a possible target of early intervention for ASD. This ESC model bank becomes an invaluable resource for studies in vitro and in vivo of ASD or other neuropsychiatric disorders.

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23. O’Flaherty M, Hill J, Bourke M, Gomersall S, Tweedy S, Cairney J. Comparing trajectories of sport participation for autistic- and non-autistic-youth: A group-based multi-trajectory modelling approach. Autism;2025 (Jun 11):13623613251345345.

Autistic children are less likely to participate in sport than non-autistic children, but we know little about how patterns of participation in team and individual sport change across childhood. Drawing on a nationally representative cohort of Australian children, this study analysed trajectories of participation in team and individual sport between the ages of 8 and 15 using a group-based multiple trajectory modelling approach. A five-group solution was found to be the best fit to the data, identifying distinct patterns of sport participation over time. In comparison with non-autistic children, autistic children were more likely to belong to the ‘sport avoider’ group with low participation in both team and individual sport at all ages. Conversely, autistic children were less likely to be classified in the ‘team sportsperson’, ‘ex-team sportsperson’ or ‘mixed sportsperson’ groups. No difference in the likelihood of belonging to the ‘individual sportsperson’ group was found. Risk factors for trajectory group membership were similar for autistic and non-autistic children. Our findings indicate that autistic children are particularly likely to experience exclusion from team sport environments, and this exclusion persists over time. Similar rates of participation in individual sport for autistic and non-autistic children indicate that these environments may be more supportive for autistic children.Lay abstractAutistic children are less likely to participate in sport than non-autistic children, but we know little about how patterns of participation in team and individual sport change across childhood. Drawing on data for a group of Australian children whose families were reinterviewed between ages 8 and 15, the present study patterns of participation in team and individual sport over time. Findings from the analysis suggested that children could be grouped into five patterns of participation in team and individual sport between the ages of 8 and 15. In comparison with non-autistic children, autistic children were more likely to belong to the ‘sport avoider’ group with low participation in both team and individual sport at all ages. Conversely, autistic children were less likely to belong to the ‘team sportsperson’, ‘ex-team sportsperson’ or ‘mixed sportsperson’ groups. Similar numbers of autistic and non-autistic children belonged to the ‘individual sportsperson’ group. Factors linked to patterns of participation over time were similar for autistic and non-autistic children. Our findings indicate that autistic children are particularly likely to experience exclusion from team sport environments, and this exclusion persists over time. Similar rates of participation in individual sport for autistic and non-autistic children indicate that these environments may be more supportive for autistic children.

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24. Passarini S, Parisi M, Guerrera S, Lazzaro G, Costanzo F, Menghini D, Vicari S, Fucà E. Exploring the association between sleep disturbances and repetitive behaviors in autistic children and adolescents: a systematic review. Sleep Med;2025 (May 29);133:106609.

INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by difficulties in social interaction and the presence of restricted and repetitive behaviors (RBs), which can be distinguished into lower and higher-level RBs. Autistic individuals frequently experience sleep disturbances that may be related to the autistic core features, particularly RBs. However, the current literature on this topic is fragmented. This systematic review aims to examine the relationship between RBs and sleep difficulties in autistic children and adolescents, also exploring whether this relationship varies between lower versus higher-level RBs. METHOD: This systematic review followed PRISMA guidelines and it is registered in PROSPERO (ID CRD420250644207). The search in the PubMed, Psycinfo, PsycArticles, and Scopus databases yielded 379 unique English-language records. According to inclusion/exclusion criteria, 21 records were considered eligible. RESULTS: Eleven studies explored the relationship between RBs and sleep disturbances, without distinguishing between lower and higher-level RBs. The remaining records examined the relationship between RBs and sleep disturbances considering the two different levels of RBs. All studies found a clear relationship between RBs and sleep difficulties, although mixed evidence emerged regarding lower-level RBs (i.e., self-injurious behaviors). Various hypotheses were proposed regarding the associative links between RBs and sleep disturbances. Further, some studies underscored that the relationship between RBs and sleep could be modulating by emotional symptoms, such as anxiety. CONCLUSION: The reviewed studies support the connection between sleep disturbances and RBs in autistic children and adolescents. This relationship appears to vary based on the levels of RBs and the presence of co-occurring symptoms.

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25. Qian L, Ding N, Fang H, Xiao T, Sun B, Gao H, Ke X. Predicting pragmatic language abilities from brain structural MRI in preschool children with ASD by NBS-Predict. Eur Child Adolesc Psychiatry;2025 (Jun 11)

Pragmatics plays a crucial role in effectively conveying messages across various social communication contexts. This aspect is frequently highlighted in the challenges experienced by children diagnosed with autism spectrum disorder (ASD). Notably, there remains a paucity of research investigating how the structural connectome (SC) predicts pragmatic language abilities within this population. Using diffusion tensor imaging (DTI) and deterministic tractography, we constructed the whole-brain white matter structural network (WMSN) in a cohort comprising 92 children with ASD and 52 typically developing (TD) preschoolers, matched for age and gender. We employed network-based statistic (NBS)-Predict, a novel methodology that integrates machine learning (ML) with NBS, to identify dysconnected subnetworks associated with ASD, and then to predict pragmatic language abilities based on the SC derived from the whole-brain WMSN in the ASD group. Initially, NBS-Predict identified a subnetwork characterized by 42 reduced connections across 37 brain regions (p = 0.01), achieving a highest classification accuracy of 79.4% (95% CI: 0.791 ~ 0.796). The dysconnected regions were predominantly localized within the brain’s frontotemporal and subcortical areas, with the right superior medial frontal gyrus (SFGmed.R) emerging as the region exhibiting the most extensive disconnection. Moreover, NBS-Predict demonstrated that the optimal correlation coefficient between the predicted pragmatic language scores and the actual measured scores was 0.220 (95% CI: 0.174 ~ 0.265). This analysis revealed a significant association between the pragmatic language abilities of the ASD cohort and the white matter connections linking the SFGmed.R with the bilateral anterior cingulate gyrus (ACG). In summary, our findings suggest that the subnetworks displaying the most significant abnormal connections were concentrated in the frontotemporal and subcortical regions among the ASD group. Furthermore, the observed abnormalities in the white matter connection pathways between the SFGmed.R and ACG may underlie the neurobiological basis for pragmatic language deficits in preschool children with ASD.

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26. Rodgers J, Cassidy S, Pelton M, Goodwin J, Nielsen E, Wagnild J, Bhattarai N, Gordon I, Wilson C, Heslop P, Ogundimu E, O’Connor RC, Ramsay SE, Townsend E, Vale L. Corrigendum to « Feasibility and acceptability of Autism Adapted Safety Plans: an external pilot randomised controlled trial ». EClinicalMedicine;2025 (Jun);84:103260.

[This corrects the article DOI: 10.1016/j.eclinm.2024.102662.].

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27. Rossignol DA, Frye RE. Early biomarker for autism spectrum disorder unveiled – what are we learning?. Expert Rev Mol Diagn;2025 (Jun 11):1-6.

INTRODUCTION: Autism Spectrum Disorder (ASD) affects 1 in 31 children in the U.S. highlighting the urgent need for early detection and intervention. Identifying reliable early biomarkers could revolutionize ASD diagnosis and improve outcomes by enabling timely therapeutic strategies. AREAS COVERED: This review explores maternal, paternal, and environmental risk factors contributing to ASD, including immune dysregulation, metabolic conditions, toxicant exposures, and placental and amniotic factors. Biomarkers aid in identifying these factors. EXPERT OPINION: Future research in maternal health and biomarkers is crucial for predicting ASD risk and developing personalized interventions. Advances in multi-omics, imaging, epigenetics, and AI-driven analysis can improve biomarker accuracy, enabling earlier detection and targeted therapies. However, challenges such as biomarker reliability and ASD heterogeneity must be addressed through large-scale validation studies and interdisciplinary collaboration to translate these discoveries into clinical practice effectively.

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28. Tagavi DM, Kim ES, Locke J. Brief Report: Structured and Unstructured Social Opportunities for Autistic Students in Elementary Educational Settings. J Autism Dev Disord;2025 (Jun 11)

PURPOSE: This study explored the structured and unstructured social opportunities available to autistic students in public elementary schools. Specifically, it examined the amount and types of social opportunities provided by teachers, as well as the relationship between grade level and pull-out special education support on these opportunities. METHODS: Participants included 27 autistic students from 12 public elementary schools. Teachers provided student school schedules, which were coded to quantify structured (e.g., small group work) and unstructured (e.g., recess) peer interaction opportunities. Descriptive analyses were conducted to determine the amount and types of social opportunities, and linear regressions examined whether grade level and pull-out special education support predicted teacher-reported time spent in these activities. RESULTS: On average, teachers reported that students spent 62.4 min per day (~ 17% of the school day) in unstructured social activities and 114.8 min per day (~ 31% of the school day) in structured social activities. Grade level significantly predicted unstructured social time, with students in grades K-2 receiving more unstructured peer opportunities than those in grades 3-5. However, grade level did not predict structured social time, and pull-out special education support was not a significant predictor of either structured or unstructured social time. CONCLUSIONS: These findings underscore the importance of teacher-facilitated peer interactions during unstructured times in early elementary years and point to opportunities for embedding social supports within these naturalistic contexts. Given the substantial amount of structured social time teachers report planning for their students, interventions leveraging these interactions may also support social development. Future research should examine the quality of these social interactions and their long-term impact on autistic students’ peer relationships and social outcomes.

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29. Violland P, Gagliardi A. [Autistic burnout: concrete elements to understand it]. Rev Med Suisse;2025 (Jun 11);21(922):1248-1251.

Autistic burnout, despite being widely discussed within the autistic community, only starts to draw attention in academic research. Nonetheless, there remains no doubt on the consequences of the autistic burnout on health, quality of life or ability to lead an independent life, given the wide variety of testimonials and the initial analyses. This article summarizes the available knowledge about this phenomenon, its description, its effects and the known therapeutic options. It also highlights how important the role of practitioners may be towards a finer understanding and a wider recognition of autistic burnout.

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30. Wang C, Shuai Y, Wang H, Ma Z. Latent profile analysis and influencing factors of psychological resilience in parents of children with autism. Front Psychiatry;2025;16:1595773.

OBJECTIVE: Based on Kumpfer’s psychological resilience framework, this study aimed to explore the potential categories of psychological resilience among parents of autistic children and to analyze the influencing factors of these categories. METHODS: Data were collected using a general information questionnaire, the Connor-Davidson Resilience Scale (CD-RISC), the Multidimensional Scale of Perceived Social Support (MSPSS), the General Self-Efficacy Scale (GSES), and the Simple Coping Style Questionnaire (SCSQ). From October 2023 to October 2024, a survey was conducted with 350 parents of autistic children at rehabilitation departments and hospitals in western Liaoning Province. A latent profile analysis was performed to assess the levels of psychological resilience, while univariate analysis, variance analysis, and logistic regression analysis were used to identify factors influencing the latent categories of psychological resilience. RESULTS: The latent profile analysis identified three categories of psychological resilience among parents: low resilience – pessimistic vulnerable type (34.8%), moderate resilience – comprehensive type (42.1%), and high resilience – strong tough type (23.1%). Logistic regression analysis revealed that multidimensional perceived social support, general self-efficacy, and coping styles (both positive and negative dimensions) significantly influenced the latent categories of psychological resilience (P < 0.05). CONCLUSIONS: The psychological resilience of parents of autistic children exhibits distinct categorical characteristics. Medical staff should implement targeted and personalized interventions tailored to these categories and their influencing factors to enhance the psychological resilience of this population.

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31. Wen C, Xu Z, Cao F, Yuan Q, Su W, Huang Z. Arecoline Alleviates Autism Spectrum Disorder-like Behaviors and Cognition Disorders in a Valproic Acid Mouse Model by Activating the AMPK/CREB/BDNF Signaling Pathway. Brain Res Bull;2025 (Jun 11):111431.

Studies in humans have revealed that the pathogenesis of autism spectrum disorder (ASD) is linked to white matter abnormalities involving hypomyelination and oligodendroglia dysfunction; however, effective treatments remain limited. Similarly, the valproic acid (VPA) model mice, which are widely used to study ASD, also exhibit white matter abnormalities with hypomyelination. Arecoline has been reported to enhance memory and cognition, facilitate myelination and improve neurological function. This study investigated the therapeutic potential of arecoline in a mouse model of prenatal VPA-induced ASD. We established an ASD mouse model through prenatal exposure to VPA and treated the mice with arecoline for 4 weeks. Behavioral analyses, including the elevated plus maze, open field, self-grooming, marble-burying, three-chamber, Y-maze, and Morris water maze tests, were conducted to assess the effects of arecoline on behavior. Western blotting was used to detect changes in protein expression in the frontal cortex after arecoline treatment. The results revealed that offspring prenatally exposed to VPA presented characteristic behavioral abnormalities, including increased repetitive and stereotyped behaviors, deficits in social interaction, and impairments in learning and memory, accompanied by reduced expression of the myelin marker MBP and the mature oligodendrocyte marker GST-pi in the frontal cortex. Four-week arecoline treatment (1 and 2mg/kg/day) significantly ameliorated these behavioral and cognitive abnormalities and restored myelination markers. Further mechanistic investigations demonstrated that arecoline enhanced the phosphorylation levels of AMPKα and CREB in the frontal cortex. This activation upregulated the expression of downstream BDNF, an essential neurotrophic factor for oligodendrocyte maturation and remyelination. These findings suggest that the AMPK/CREB/BDNF pathway may contribute to the therapeutic effects of arecoline, potentially through increased oligodendrocyte maturation and remyelination. This study provides preclinical evidence supporting arecoline as a potential myelination-targeting intervention, with implications for ASD and other neurological disorders involving myelination deficits.

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32. West P, Robbins L, Douglas SN, Given C, DeCicco B, Pathak D, Wyatt G. Family functioning among adolescents with developmental disabilities utilizing augmentative and alternative communication. Disabil Rehabil Assist Technol;2025 (Jun 11):1-14.

PURPOSE: Family involvement is critical for adolescents with developmental disabilities and complex communication needs; especially for adolescents requiring augmentative and alternative communication (AAC). This study aimed to examine the relationship between parental and adolescent characteristics and family functioning across three groups of families based on the frequency of adolescents’ use of AAC. METHODS: This cross-sectional study included families of adolescents aged 13 to 18 years with autism spectrum disorder (ASD) and/or Down syndrome (DS) who use AAC. A family consisted of at least one parent or guardian and an adolescent. Families enrolled in the study through online recruitment registries, support organizations, and social media. RESULTS: In total, 227 families (parent as proxy) completed an online survey, which included the Family Impact of Assistive Technology Scale for AAC (FIATS-ACC) measure. The FIATS-ACC scores across the three usage groups (high, moderate, low) were compared. Parental/adolescent characteristics associated with family functioning included parental employment and education, parent age, adolescent communication function, and type of AAC device. Communication function emerged as the only predictor of family functioning. The mean unadjusted family functioning score for the high-usage group was significantly higher than both the low- and moderate-usage groups. CONCLUSION: Findings provide insights into at-risk families and imply the need for individualized family interventions to optimize outcomes. Successful integration of AAC devices into an adolescent’s life is enhanced with support among family members and recognition of factors influencing outcomes.Utilization of a theoretical framework enhances assessment of family patterns of functioning among families of adolescents who use AAC devices.Integrating interdisciplinary professional assessments of family resources in AAC device utilization can facilitate AAC implementation.Building interprofessional collaborations across disciplines can aid the design of family focused AAC interventions and enhance outcomes for adolescents and families. eng

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33. Yao Y, Guo LL, Gao JQ, Jin XJ, Wang KC, Chen JH, Zhang YH, Che C, Cai ZF, Gao JJ, Niu XH, Leng J, Feng YL, Yu DX, Cao AH. Brain Cortical Volume and Thickness Abnormalities in Autism Spectrum Disorder Aged 2-4 Years: a Structural MRI Comparative Study. J Autism Dev Disord;2025 (Jun 11)

PURPOSE: To examine the brain morphological characteristics of 2-to-4-year-olds with ASD, including cortical and subcortical regions, and to investigate their associations with clinical behaviors. METHODS: A total of 43 toddlers with ASD aged 2-4 years, 44 age- and gender- matched toddlers with developmental delay (DD) and 18 typically developing (TD) children were recruited. All participants underwent whole-brain high-resolution MRI and clinical assessments. Brain structural data were analyzed using Surface-Based Morphometry with FreeSurfer. Linear mixed-effects models were employed to identify differences in brain regions between groups and to explore their links with clinical behaviors. RESULTS: Compared to TD group, ASD group demonstrated increased cortical thickness and volume, particularly within the frontal and parietal brain regions (FDR, p < 0.05). When compared to DD, ASD group exhibited a distinction in the increased cortical volume within the posterior frontal lobe and middle-post cingulate (FDR, p < 0.05). DD children had increased cortical thickness and cortical volume in the superior parietal gyrus compared to TD (FDR, p < 0.05). In the ASD + DD group, increased cortical thickness of the superior frontal sulcus was correlated with lower adaptive behavior, while reduced nucleus accumbens volume and increased cortical thickness of the superior frontal sulcus and precentral sulcus were associated with decreased language development (FDR, p < 0.05). CONCLUSION: Our study found widespread brain abnormalities in young children with ASD, notably altered cortical volume and thickness in frontal and parietal lobes. These findings may serve as important indicators of altered brain development trajectories in this population.

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34. Zeng W, Suarez-Balcazar Y, Errisuriz VL, Mirza M, Vanegas SB, Parra-Medina D, Magaña S. Social Determinants of Health, Maternal Quality of Life, and Family Functioning Among Latinx Families of Children with Intellectual and Developmental Disabilities. J Autism Dev Disord;2025 (Jun 11)

This study aims to understand the relationships of social determinants of health (SDOH) and sociocultural factors with maternal quality of life and family functioning among Latinx families of children with intellectual and developmental disabilities (IDD). We recruited 105 Latinx families of children with IDD across Texas and Illinois. We used conditional process models to examine the associations between demographic variables, SDOH, sociocultural factors (social support and family cohesion), and outcomes including maternal quality of life (QoL) and family functioning. We also tested whether sociocultural factors moderated the relationships between selected SDOH and the study outcomes. We found that not being a homeowner, experiencing food insecurity, and having greater levels of perceived discrimination were associated with lower maternal QoL. We also found that food insecurity and greater levels of perceived discrimination were associated with lower family functioning among Latinx families of children with IDD. Social support and family cohesion were positive correlates of the outcomes; however, they did not show significant moderation effects. On the contrary, we found that perceived discrimination may dampen the impact of social support on maternal QoL. This study highlights the impact of SDOH on the wellbeing of Latinx families of children with IDD. Policies and programs that promote homeownership, reduce food insecurity, and combat discrimination may benefit the wellbeing of Latinx families with children with IDD.

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35. Zhang E, Zhao T, Sikora T, Ellaway C, Gold WA, Van Bergen NJ, Stroud DA, Christodoulou J, Kaur S. CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum. Hum Mutat;2025;2025:5485987.

Rett syndrome (RTT) is a rare, X-linked, severe neurodevelopmental disorder, predominantly associated with pathogenic variants in the methyl-CpG-binding protein-2 (MECP2) gene, with an increasing number of atypical RTT or RTT-like individuals having pathogenic variants in other genes, such as cyclin-dependent kinase-like 5 (CDKL5) or forkhead box G1 (FOXG1). However, ~20% of individuals with a clinical diagnosis of RTT remain genetically undiagnosed, highlighting the importance of ongoing genomic and functional studies to expand the genetic spectrum of RTT. We present a female who was born to healthy nonconsanguineous parents and presented with severe intellectual disability, macrocephaly, ataxia, absent speech, and poor eye contact. The affected individual was clinically diagnosed with atypical RTT, but genetic testing showed no pathogenic variants in MECP2, CDKL5, or FOXG1. Singleton whole genome sequencing was conducted, which identified a heterozygous stop-gain variant [NM_001170629.2: c.5017C>T, p.(Arg1673⁣(∗))], in the chromodomain-helicase-DNA-binding protein 8 (CHD8) gene. Variant curation revealed its absence in unaffected populations, in silico predictions of pathogenicity, and an existing association with intellectual developmental disorder with autism and macrocephaly (IDDAM) (OMIM #615032). In vitro functional analyses, including Western blots, quantitative reverse transcription polymerase chain reaction (qRT-PCR), and proteomic analyses, demonstrated a significant reduction of the CHD8 transcript and two CHD8 protein isoforms in the proband’s skin fibroblasts relative to control fibroblasts. Additionally, proteomic analysis indicated a significant reduction of the MeCP2 protein, indicating a possible molecular link between CHD8 and MeCP2 and thus clinically between IDDAM and RTT. As the affected individual’s phenotype is consistent with atypical RTT, our results suggest that CHD8 could be considered in the expanding genetic spectrum of atypical RTT, which may assist the diagnosis of other MECP2-negative RTT individuals.

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